rag-article-list.txt

ENSID	HGNC	PMID Gene-disease	Disease OMIM ID Disease name	PMID Disease
ENSG00000188536	HBA2	1115799	604131	Thalassemia, alpha-	1115799
ENSG00000206172	HBA1	909779	604131	Thalassemias, alpha-	909779
ENSG00000052850	ALX4	11106354	609597	Parietal foramina 2 	11106354
ENSG00000102081	FMR1	1675488	300624	Fragile X syndrome 	1675488
ENSG00000047457	CP	3574673	604290	Cerebellar ataxia 	3574673
ENSG00000047457	CP	3574673	604290	Hemosiderosis, systemic, due to aceruloplasminemia	3574673
ENSG00000154743	TSEN2	18711368	612389	Pontocerebellar hypoplasia type 2B	18711368
ENSG00000198734	F5	8164741	188055	Thrombophilia due to activated protein C resistance	8164741
ENSG00000166206	GABRB3	23934111	617113	Epileptic encephalopathy, early infantile, 43	23934111
ENSG00000101966	XIAP	17080092	300635	Lymphoproliferative syndrome, X-linked, 2	17080092
ENSG00000105991	HOXA1	16155570	601536	Athabaskan brainstem dysgenesis syndrome	16155570
ENSG00000105991	HOXA1	16155570	601536	Bosley-Salih-Alorainy syndrome, 	16155570
ENSG00000161011	SQSTM1	22084127	616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 	22084127
ENSG00000132781	MUTYH	11818965	608456	Adenomas, multiple colorectal	11818965
ENSG00000108556	CHRNE	8957026	608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	8957026
ENSG00000163513	TGFBR2	15235604	610168	Loeys-Dietz syndrome 2	15235604
ENSG00000160877	NACC1	28132692	617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	28132692
ENSG00000108176	DNAJC12	28132689	617384	Hyperphenylalaninemia, mild, non-BH4-deficient	28132689
ENSG00000137802	MAPKBP1	28089251	617271	Nephronophthisis 20	28089251
ENSG00000138347	MYPN	28017374	617336	Nemaline myopathy 11, autosomal recessive	28017374
ENSG00000108001	EBF3	28017373	617330	Hypotonia, ataxia, and delayed development syndrome	28017373
ENSG00000146701	MDH2	27989324	617339	Epileptic encephalopathy, early infantile, 51	27989324
ENSG00000163848	ZNF148	27964749	617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	27964749
ENSG00000127152	BCL11B	27959755	617237	Immunodeficiency 49	27959755
ENSG00000156983	BRPF1	27939640	617333	Intellectual developmental disorder with dysmorphic facies and ptosis	27939640
ENSG00000147471	PLPBP	27912044	617290	Epilepsy, early-onset, vitamin B6-dependent	27912044
ENSG00000187098	MITF	27889061	617306	COMMAD syndrome	27889061
ENSG00000103723	AP3B2	27889060	617276	Epileptic encephalopathy, early infantile, 48	27889060
ENSG00000115255	REEP6	27889058	617304	Retinitis pigmentosa 77	27889058
ENSG00000159450	TCHH	27866708	617252	Uncombable hair syndrome 3	27866708
ENSG00000184014	DENND5A	27866705	617281	Epileptic encephalopathy, early infantile, 49	27866705
ENSG00000272333	KMT2B	27839873	617284	Dystonia 28, childhood-onset	27839873
ENSG00000160111	CPAMD8	27839872	617319	Anterior segement dysgenesis 8	27839872
ENSG00000116353	MECR	27817865	617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	27817865
ENSG00000163389	POGLUT1	27807076	617232	Muscular dystrophy, limb-girdle, type 2Z	27807076
ENSG00000027001	MIPEP	27799064	617228	Combined oxidative phosphorylation deficiency 31 	27799064
ENSG00000114796	KLHL24	27798626	617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss	27798626
ENSG00000139324	TMTC3	27773428	617255	Lissencephaly 8 	27773428
ENSG00000124827	GCM2	27745835	617343	Hyperparathyroidism 4	27745835
ENSG00000121350	PYROXD1	27745833	617258	Myopathy, myofibrillar, 8	27745833
ENSG00000182326	C1S	27745832	617174	Ehlers-Danlos syndrome, periodontal type, 2	27745832
ENSG00000049759	NEDD4L	27694961	617201	Periventricular nodular heterotopia 7	27694961
ENSG00000151729	SLC25A4	27693233	617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD	27693233
ENSG00000141556	TBCD	27666374	617193	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum	27666374
ENSG00000154864	PIEZO2	27653382	617146	Arthrogryposis, distal, with impaired proprioception and touch	27653382
ENSG00000168306	ACOX2	27647924	617308	Bile acid synthesis defect, congenital, 6	27647924
ENSG00000197785	ATAD3A	27640307	617183	Harel-Yoon syndrome 	27640307
ENSG00000167098	SUN5	27640305	617187	Spermatogenic failure 16	27640305
ENSG00000105464	GRIN2D	27616483	617162	Epileptic encephalopathy, early infantile, 46	27616483
ENSG00000186417	GLDN	27616481	617194	Lethal congenital contracture syndrome 11	27616481
ENSG00000148019	CEP78	27588451	617236	Cone-rod dystrophy and hearing loss 	27588451
ENSG00000196549	MME	27583304	617018	Spinocerebellar ataxia 43	27583304
ENSG00000115665	SLC5A7	27569547	617143	Myasthenic syndrome, congenital	27569547
ENSG00000161011	SQSTM1	27545679	617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	27545679
ENSG00000276747	PADI6	27545678	617234	Preimplantation embryonic lethality 2	27545678
ENSG00000126945	HNRPH2	27545675	300986	Mental retardation, X-linked, syndromic, Bain type	27545675
ENSG00000081307	UBA5	27545674	617132	Epileptic encephalopathy, early infantile, 44	27545674
ENSG00000154124	OTULIN	27523608	617099	Autoinflammation, panniculitis, and dermatosis syndrome	27523608
ENSG00000069966	GNB5	27523599	617173	Intellectual developmental disorder with cardiac arrhythmia	27523599
ENSG00000138777	PPA2	27523598	617222	Sudden cardiac failure, infantile	27523598
ENSG00000138777	PPA2	27523597	617223	Sudden cardiac failure, alcohol-induced	27523597
ENSG00000136758	YME1L1	27495975	617302	Optic atrophy 11	27495975
ENSG00000187726	DNAJB13	27486783	617091	Ciliary dyskinesia, primary, 34	27486783
ENSG00000136144	RCBTB1	27486781	617175	Retinal dystrophy with or without extraocular anomalies	27486781
ENSG00000204815	TTC25	27486780	617092	Ciliary dyskinesia, primary, 35	27486780
ENSG00000065883	CDK13	27479907	617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 	27479907
ENSG00000111642	CHD4	27479907	617159	Sifrim-Hitz-Weiss syndrome	27479907
ENSG00000184304	PRKD1	27479907	617364	Congenital heart defects and ectodermal dysplasia	27479907
ENSG00000173698	ADGRG2	27476656	300985	Vas deferens, congenital bilateral aplasia of, X-linked	27476656
ENSG00000113318	MSH3	27476653	617100	Familial adenomatous polyposis 4	27476653
ENSG00000166401	SERPINB8	27476651	617115	Peeling skin syndrome 5 	27476651
ENSG00000159082	SYNJ1	27435091	617389	Epileptic encephalopathy, early infantile, 53	27435091
ENSG00000107960	STN1	27432940	617341	Cerebroretinal microangiopathy with calcifications and cysts 2	27432940
ENSG00000185115	NSMCE3	27427983	617241	Lung disease, immunodeficiency, and chromosome breakage syndrome	27427983
ENSG00000196305	IARS	27426735	617093	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	27426735
ENSG00000147065	MSN	27405666	300988	Immunodeficiency 50 	27405666
ENSG00000122550	KLHL7	27392078	617055	Cold-induced sweating syndrome 3	27392078
ENSG00000058262	SEC61A1	27392076	617056	Hyperuricemic nephropathy, familial juvenile, 4	27392076
ENSG00000093009	CDC45L	27374770	617063	Meier-Gorlin syndrome 7 	27374770
ENSG00000111199	TRPV4	27330106	617383	?Avascular necrosis of femoral head, primary, 2	27330106
ENSG00000169884	WNT10B	27321946	617073	Tooth agenesis, selective, 8	27321946
ENSG00000146038	DCDC2	27319779	617394	Sclerosing cholangitis, neonatal	27319779
ENSG00000103043	VAC14	27292112	617054	Striatonigral degeneration, childhood-onset	27292112
ENSG00000079335	CDC14A	27259055	616958	Deafness, autosomal recessive 105	27259055
ENSG00000163931	TKT	27259054	617044	Short stature, developmental delay, and congenital heart defects	27259054
ENSG00000089597	GANAB	27259053	600666	Polycyctic kidney disease 3 	27259053
ENSG00000104635	SLC39A14	27231142	617013	Hypermanganesemia with dystonia 2	27231142
ENSG00000071553	ATP6AP1	27231034	300972	Immunodeficiency 47 	27231034
ENSG00000159363	ATP13A2	27217339	617225	Spastic paraplegia 78, autosomal recessive	27217339
ENSG00000115317	HTRA2	27208207	617248	3-methylglutaconic aciduria, type VIII	27208207
ENSG00000205413	SAMD9	27182967	617053	MIRAGE syndrome 	27182967
ENSG00000204103	MAFB	27181683	617041	Duane retraction syndrome 3	27181683
ENSG00000114279	FGF12	27164707	617166	Epileptic encephalopathy, early infantile, 47	27164707
ENSG00000014216	CAPN1	27153400	616907	Spastic paraplegia 76, autosomal recessive	27153400
ENSG00000100726	TELO2	27132593	616954	You-Hoover-Fong syndrome 	27132593
ENSG00000174173	TRMT10C	27132592	616974	Combined oxidative phosphorylation deficiency 30	27132592
ENSG00000163382	NAXE	27122014	617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	27122014
ENSG00000111664	GNB3	27063057	617024	Night blindness, congenital stationary, type 1H	27063057
ENSG00000112541	PDE10A	27058447	616922	Striatal degeneration, autosomal dominant	27058447
ENSG00000112541	PDE10A	27058446	616921	Dyskinesia, limb and orofacial, infantile-onset	27058446
ENSG00000110060	PUS3	27055666	617051	Mental retardation, autosomal recessive 55	27055666
ENSG00000183762	KREMEN1	27049303	617392	Ectodermal dysplasia 13, hair/tooth type	27049303
ENSG00000101266	CSNK2A1	27048600	617062	Okur-Chung neurodevelopmental syndrome 	27048600
ENSG00000105771	SMG9	27018474	616920	Heart and brain malformation syndrome	27018474
ENSG00000103671	TRIP4	27008887	617066	Muscular dystrophy, congenital, Davignon-Chauveau type	27008887
ENSG00000197265	GTF2E2	26996949	616943	Trichothiodystrophy 6, nonphotosensitive	26996949
ENSG00000174227	PIGG	26996948	616917	Mental retardation, autosomal recessive 53	26996948
ENSG00000127463	EMC1	26942288	616875	Cerebellar atrophy, visual impairment, and psychomotor retardation	26942288
ENSG00000197122	SRC	26936507	616937	Thrombocytopenia 6 	26936507
ENSG00000164933	SLC25A32	26933868	616839	Exercise intolerance, riboflavin-responsive	26933868
ENSG00000161202	DVL3	26924530	616894	Robinow syndrome, autosomal dominant 3	26924530
ENSG00000103671	TRIP4	26924529	616866	Spinal muscular atrophy with congenital bone fractures 1	26924529
ENSG00000138303	ASCC1	26924529	616867	Spinal muscular atrophy with congenital bone fractures 2	26924529
ENSG00000119638	NEK9	26908619	617022	Lethal congenital contracture syndrome 10	26908619
ENSG00000085998	POMGNT1	26908613	617123	Retinitis pigmentosa 76	26908613
ENSG00000049246	PER3	26903630	616882	Advanced sleep phase syndrome, familial, 3	26903630
ENSG00000102900	NUP93	26878725	616892	Nephrotic syndrome, type 12	26878725
ENSG00000155561	NUP205	26878725	616893	Nephrotic syndrome, type 13	26878725
ENSG00000081307	UBA5	26872069	617133	Spinocerebellar ataxia, autosomal recessive 24	26872069
ENSG00000113083	LOX	26838787	617168	Aortic aneurysm, familial thoracic 10	26838787
ENSG00000183597	TANGO2	26805781	616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	26805781
ENSG00000261456	TUBB8	26789871	616780	Oocyte maturation defect 2	26789871
ENSG00000115085	ZAP70	26783323	617006	Autoimmune disease, multisystem, infantile-onset, 2	26783323
ENSG00000091436	MAP3K20	26755636	616890	Split-foot malformation with mesoaxial polydactyly	26755636
ENSG00000139151	PLCZ1	26721930	617214	Spermatogenic failure 17	26721930
ENSG00000084693	AGBL5	26720455	617023	Retinitis pigmentosa 75	26720455
ENSG00000047578	KIAA0556	26714646	616784	Joubert syndrome 	26714646
ENSG00000072274	TFRC	26642240	616740	Immunodeficiency 46 	26642240
ENSG00000147133	TAF1	26637982	300966	Mental retardation, X-linked, syndromic 33	26637982
ENSG00000130347	RTN4IP1	26593267	616732	Optic atrophy 10 with or without ataxia, mental retardation, and seizures	26593267
ENSG00000147140	NONO	26571461	300967	Mental retardation, X-linked, syndromic 34	26571461
ENSG00000114988	LMAN2L	26566883	616887	Mental retardation, autosomal recessive, 52	26566883
ENSG00000011376	LARS2	26537577	617021	Hydrops, lactic acidosis, and sideroblastic anemia	26537577
ENSG00000104953	TLE6	26537248	616814	Preimplantation embryonic lethality	26537248
ENSG00000101310	SEC23B	26522472	616858	Cowden syndrome 7 	26522472
ENSG00000049130	KITLG	26522471	616697	Deafness, autosomal dominant 69, unilateral or asymmetric 	26522471
ENSG00000144741	SLC25A26	26522469	616794	Combined oxidative phosphorylation deficiency 28	26522469
ENSG00000185100	ADSSL1	26506222	617030	Myopathy, distal, 5	26506222
ENSG00000116198	CEP104	26477546	616781	Joubert syndrome 25	26477546
ENSG00000006283	CACNA1G	26456284	616795	Spinocerebellar ataxia 42 	26456284
ENSG00000132600	PRMT7	26437029	617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	26437029
ENSG00000154485	MMP21	26429889	616749	Heterotaxy, visceral, 7, autosomal	26429889
ENSG00000159110	IFNAR2	26424569	616669	Immunodeficiency 45	26424569
ENSG00000085382	HACE1	26424145	616756	Spastic paraplegia and psychomotor retardation with or without seizures	26424145
ENSG00000166326	TRIM44	26394807	617142	Aniridia 3	26394807
ENSG00000070018	LRP6	26387593	616724	Tooth agenesis, selective, 7	26387593
ENSG00000159579	RSPRY1	26365341	616723	Spondylopeimetaphyseal dsyplasia, Faden-Alkuraya type	26365341
ENSG00000169762	TAPT1	26365339	616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type	26365339
ENSG00000154781	CCDC174	26358778	616816	Hypotonia, infantile, with psychomotor retardation	26358778
ENSG00000103335	PIEZO1	26333996	616843	Lymphedema, hereditary, III	26333996
ENSG00000124140	SLC12A5	26333769	616645	Epileptic encephalopathy, early infantile, 34	26333769
ENSG00000160695	VPS11	26307567	616683	Leukodystrophy, hypomyelinating, 12	26307567
ENSG00000145375	SPATA5	26299366	616577	Epilepsy, hearing loss, and mental retardation syndrome	26299366
ENSG00000255072	PIGY	26293662	616809	Hyperphosphatasia with mental retardation syndrome 6	26293662
ENSG00000236320	SLFN14	26280575	616913	Bleeding disorder, platelet-type	26280575
ENSG00000151348	EXT2	26246518	616682	Seizures, scoliosis, and macrocephaly syndrome	26246518
ENSG00000215301	DDX3X	26235985	300958	Mental retardation, X-linked 102	26235985
ENSG00000125877	ITPA	26224535	616647	Epileptic encephalopathy, early infantile, 35	26224535
ENSG00000148702	HABP2	26222560	616535	Thyroid cancer, nonmedullary, 5	26222560
ENSG00000225830	ERCC6	26218421	616946	Premature ovarian failure 11	26218421
ENSG00000119969	HELLS	26216346	616911	Immunodeficiency-centromeric instability-facial anomalies syndrome 4	26216346
ENSG00000161011	SQSTM1	26208961	617158	Myopathy, distal, with rimmed vacuoles	26208961
ENSG00000150540	HNMT	26206890	616739	Mental retardation, autosomal recessive 51	26206890
ENSG00000135535	CD164	26197441	616969	Deafness, autosomal dominant 66	26197441
ENSG00000073111	MCM2	26196677	616968	Deafness, autosomal dominant 70	26196677
ENSG00000165119	HNRNPK	26173930	616580	Au-Kline syndrome 	26173930
ENSG00000164209	SLC25A46	26168012	616505	Neuropathy, hereditary motor and sensory, type VIB	26168012
ENSG00000204897	KRT25	26160856	616760	Woolly hair, autosomal recessive 3	26160856
ENSG00000158615	PPP1R15B	26159176	616817	Microcephaly, short stature, and impaired glucose metabolism 2	26159176
ENSG00000167244	IGF2	26154720	616489	Growth restriction, severe, with distinctive facies	26154720
ENSG00000171453	POLR1C	26151409	616494	Leukodystrophy, hypomyelinating, 11	26151409
ENSG00000100578	KIAA0586	26096313	616490	Joubert syndrome 23 	26096313
ENSG00000171865	RNASEH1	26094573	616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	26094573
ENSG00000167186	COQ7	26084283	616733	Coenzyme Q10 deficiency, primary, 8	26084283
ENSG00000134516	DOCK2	26083206	616433	Immunodeficiency 40	26083206
ENSG00000130363	RSPH3	26073779	616481	Ciliary dyskinesia, primary, 32	26073779
ENSG00000151779	NBAS	26073778	616483	Infantile liver failure syndrome 2	26073778
ENSG00000118217	ATF6	26063662	616517	Achromatopsia 7	26063662
ENSG00000166033	HTRA1	26063658	616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	26063658
ENSG00000207935	MIR204	26056285	616722	Retinal dystrophy and iris coloboma with or without cataract	26056285
ENSG00000177030	DEAF1	26048982	617171	Dyskinesia, seizures, and intellectual developmental disorder	26048982
ENSG00000189056	RELN	26046367	616436	Epilepsy, familial temporal lobe, 7	26046367
ENSG00000118217	ATF6	26029869	616517	Achromatopsia 7	26029869
ENSG00000113140	SPARC	26027498	616507	Osteogenesis imperfecta, type XVII	26027498
ENSG00000059573	ALDH18A1	26026163	616586	Spastic paraplegia 9B, autosomal recessive	26026163
ENSG00000130711	PRDM12	26005867	616488	Neuropathy, hereditary sensory and autonomic, type VIII	26005867
ENSG00000112414	ADGRG6	26004201	616503	Lethal congenital contracture syndrome 9	26004201
ENSG00000163359	COL6A3	26004199	616411	Dystonia 27	26004199
ENSG00000156171	DRAM2	25983245	616502	Cone-rod dystrophy 21	25983245
ENSG00000100379	KCTD17	25983243	616398	Dystonia 26	25983243
ENSG00000108813	DLX4	25954033	616788	Orofacial cleft 15	25954033
ENSG00000176619	LMNB2	25954030	616540	Epilepsy, progressive myoclonic, 9	25954030
ENSG00000105976	MET	25941349	616705	Deafness, autosomal recessive 97	25941349
ENSG00000065057	NTHL1	25938944	616415	Familial adenomatous polyposis 3	25938944
ENSG00000115902	SLC1A4	25930971	616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	25930971
ENSG00000138207	RBP4	25910211	616428	Microphthalmia, isolated, with coloboma 10	25910211
ENSG00000196557	CACNA1H	25907736	617027	Hyperaldosteronism, familial, type IV	25907736
ENSG00000171772	SYCE1	25899990	616950	Spermatogenic failure 15	25899990
ENSG00000122218	COPA	25894502	616414	Autoimmune interstitial lung, joint, and kidney disease	25894502
ENSG00000140694	PARN	25893599	616353	Dyskeratosis congenita, autosomal recessive 6	25893599
ENSG00000175213	ZNF408	25882705	616469	Retinitis pigmentosa 72 	25882705
ENSG00000143811	PYCR2	25865492	616420	Leukodystrophy, hypomyelinating, 10	25865492
ENSG00000165102	HGSNAT	25859010	616544	Retinitis pigmentosa 73	25859010
ENSG00000241973	PI4KA	25855803	616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	25855803
ENSG00000140694	PARN	25848748	616371	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4	25848748
ENSG00000142178	SIK1	25839329	616341	Epileptic encephalopathy, early infantile	25839329
ENSG00000137822	TUBGCP4	25817018	616335	Microcephaly and chorioretinopathy, autosomal recessive, 3	25817018
ENSG00000090861	AARS	25817015	616339	Epileptic encephalopathy, early infantile, 29	25817015
ENSG00000103942	HOMER2	25816005	616707	Deafness, autosomal dominant 68	25816005
ENSG00000105738	SIPA1L3	25804400	616851	Cataract 45	25804400
ENSG00000104973	MED25	25792360	616449	Basel-Vanagait-Smirin-Yosef syndrome	25792360
ENSG00000147123	NDUFB11	25772934	300952	Linear skin defects with multiple congenital anomalies 3 	25772934
ENSG00000138696	BMPR1B	25758993	616849	Brachydactyly, type A1, D	25758993
ENSG00000166123	GPT2	25758935	616281	Mental retardation, autosomal recessive 49	25758935
ENSG00000247626	MARS2	25754315	616430	Combined oxidative phosphorylation deficiency 25	25754315
ENSG00000115266	APC2	25753423	617169	Sotos syndrome 3	25753423
ENSG00000131263	RLIM 	25735484	300978	Mental retardation, X-linked 61	25735484
ENSG00000072364	AFF4	25730767	616368	CHOPS syndrome 	25730767
ENSG00000083168	KAT6A	25728775	616268	Mental retardation, autosomal dominant 32, 	25728775
ENSG00000039650	PNKP	25728773	616267	Ataxia-oculomotor apraxia 4 	25728773
ENSG00000178209	PLEC	25712130	616487	Epidermolysis bullosa simplex with nail dystrophy	25712130
ENSG00000110063	DCPS	25712129	616459	Al-Raqad syndrome	25712129
ENSG00000197106	SLC6A17	25704603	616269	Mental retardation, autosomal recessive 48	25704603
ENSG00000179151	EDC3	25701870	616460	Mental retardation, autosomal recessive 50	25701870
ENSG00000183735	TBK1	25700176	616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	25700176
ENSG00000069482	GAL	25691535	616461	Epilepsy, familial temporal lobe, 8	25691535
ENSG00000150961	SEC24D	25683121	616294	Cole-Carpenter syndrome 2	25683121
ENSG00000102452	NALCN	25683120	616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	25683120
ENSG00000084774	CAD	25678555	616457	Epileptic encephalopathy, early infantile, 50	25678555
ENSG00000197417	SHPK	25647543	617213	Sedoheptulokinase deficiency	25647543
ENSG00000169933	FRMPD4	25644381	300983	Mental retardation, X-linked 104	25644381
ENSG00000273820	USP27X	25644381	300984	Mental retardation 105	25644381
ENSG00000107201	DDX58	25620203	616298	Singleton-Merten syndrome 2	25620203
ENSG00000181873	IBA57	25609768	616451	Spastic paraplegia 74, autosomal recessive	25609768
ENSG00000162129	CLPB	25597510	616271	3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia	25597510
ENSG00000159140	SON	25590979	617140	ZTTK syndrome	25590979
ENSG00000072163	LIMS2	25589244	616827	Muscular dystrophy, limb-girdle, type 2W	25589244
ENSG00000139083	ETV6	25581430	616216	Thrombocytopenia 5 	25581430
ENSG00000185024	BRF1	25561519	616202	Cerebellofaciodental syndrome	25561519
ENSG00000146038	DCDC2	25557784	616217	Nephronophthisis 19 	25557784
ENSG00000125124	BBS2	25541840	616562	Retinitis pigmentosa 74	25541840
ENSG00000140854	KATNB1	25521378	616212	Lissencephaly 6, with microcephaly	25521379
ENSG00000111877	MCM9	25480036	616185	Ovarian dysgenesis 4	25480036
ENSG00000155816	FMN2	25480035	616193	Mental retardation, autosomal recessive 47	25480035
ENSG00000165370	GPR101	25470569	300943	Pituitary adenoma, growth hormone-secreting 2	25470569
ENSG00000135317	SNX14	25439728	616354	Spinocerebellar ataxia, autosomal recessive 20	24501761
ENSG00000197601	FAR1	25439727	616154	Peroxisomal fatty acyl-CoA reductase 1 disorder	25439727
ENSG00000197614	MFAP5	25434006	616166	Aortic aneurysm, familial thoracic 9	25434006
ENSG00000130299	GTPBP3	25434004	616198	Combined oxidative phosphorylation deficiency 23	25434004
ENSG00000155380	SLC16A1	25390740	616095	Monocarboxylate transporter 1 deficiency	25390740
ENSG00000091106	NLRC4	25385754	616115	Familial cold autoinflammatory syndrome 4	25385754
ENSG00000132639	SNAP25	25381298	616330	Myasthenic syndrome, congenital, 18	25381298
ENSG00000127824	TUBA4A	25374358	616208	Amyotrophic lateral sclerosis 22 with or without frontotemoral dementia	25374358
ENSG00000107815	TWNK	25355836	616138	Perrault syndrome 5	25355836
ENSG00000100412	ACO2	25351951	616289	Optic atrophy 9	25351951
ENSG00000128591	FLNC	25351925	617047	Cardiomyopathy, familial restrictive 5	25351925
ENSG00000142731	PLK4	25344692	616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	25344692
ENSG00000167723	TRPV3	25285920	616400	Palmoplantar keratoderma, nonepidermolytic, focal 2	25285920
ENSG00000129810	SGO1	25282101	616201	Chronic atrial and intestinal dysrhythmia 	25282101
ENSG00000176915	ANKLE2	25259927	616681	Microcephaly 16, primary, autosomal recessive	25259927
ENSG00000163380	LMOD3	25250574	616165	Nemaline myopathy 10	25250574
ENSG00000104093	DMXL2	25248098	616113	Polyendocrine-polyneuropathy syndrome	25248098
ENSG00000198003	CCDC151	25224326	616037	Ciliary dyskinesia, primary, 30	25224326
ENSG00000091106	NLRC4	25217960	616050	Autoinflammation with infantile enterocolitis	25217960
ENSG00000091106	NLRC4	25217959	616050	Autoinflammation with infantile enterocolitis	25217960
ENSG00000015171	ZMYND11	25217958	616083	Mental retardation, autosomal dominant 	25217958
ENSG00000102977	ACD	25205116	616553	Dyskeratosis congenita, autosomal dominant 6, Dyskeratosis congenita, autosomal recessive 7	25205116
ENSG00000101695	RNF125	25196541	616260	Tenorio syndrome 	25196541
ENSG00000143858	SYT2	25192047	616040	Myasthenic syndrome, congenital, 7, presynaptic	25192047
ENSG00000198003	CCDC151	25192045	616037	Ciliary dyskinesia, primary, 30	25192045
ENSG00000117528	ABCD3	25168382	616278	Bile acid synthesis defect, congenital, 5	25168382
ENSG00000158445	KCNB1	25164438	616056	Epileptic encephalopathy, early infantile, 26	25164438
ENSG00000135069	PSAT1	25152457	616038	Neu-Laxova syndrome 2 	25152457
ENSG00000083307	GRHL2	25152456	616029	Ectodermal dysplasia/short stature syndrome, 	25152456
ENSG00000145675	PIK3R1	25133428	616005	Immunodeficiency 36	25488983
ENSG00000171135	JAGN1	25129144	616022	Neutropenia, severe congenital, 6, autosomal recessive	25129144
ENSG00000127884	ECHS1	25125611	616277	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency	25125611
ENSG00000156831	NSMCE2	25105364	617253	Seckel syndrome 10	25105364
ENSG00000101680	LAMA1	25105227	615960	Poretti-Boltshauser syndrome	25105227
ENSG00000100246	DNAL4	25098561	616059	Mirror movements 3	25098561
ENSG00000153989	NUS1	25066056	617082	Congenital disorder of glycosylation, type 1aa	25066056
ENSG00000012660	ELOVL5	25065913	615957	Spinocerebellar ataxia 38	25065913
ENSG00000015133	CCDC88C	25062847	616053	Spinocerebellar ataxia 40	25062847
ENSG00000171772	SYCE1	25062452	616947	Premature ovarian failure 12	25062452
ENSG00000165059	PRKACG	25061177	616176	Bleeding disorder, platelet-type, 19	25061177
ENSG00000137411	VARS2	25058219	615917	Combined oxidative phosphorylation deficiency 20	25058219
ENSG00000179627	ZBTB42	25055871	616248	Lethal congenital contracture syndrome 6	25055871
ENSG00000168610	STAT3	25038750	615952	Autoimmune disease, multisystem, infantile-onset, 1	25038750
ENSG00000184584	TMEM173	25029335	615934	STING-associated vasculopathy, infantile-onset	25029335
ENSG00000139323	POC1B	25018096	615973	Cone-rod dystrophy 20	25018096
ENSG00000204922	UQCC3	25008109	616111	Mitochondrial complex III deficiency, nuclear type 9	25008109
ENSG00000168014	C2CD3	24997988	615948	Orofaciodigital syndrome XIV	24997988
ENSG00000141485	SLC13A5	24995870	615905	Epileptic encephalopathy, early infantile, 25	24995870
ENSG00000120699	EXOSC8	24989451	616081	Pontocerebellar hypoplasia, type 1C	24989451
ENSG00000111913	RIPOR2	24958875	616515	Deafness, autosomal recessive 104	24958875
ENSG00000068831	RASGRP2	24958846	615888	Bleeding disorder, platelet-type, 18	24958846
ENSG00000156876	SASS6	24951542	616402	Microcephaly 14, primary, autosomal recessive	24951542
ENSG00000250479	CHCHD10	24934289	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	24934289
ENSG00000185900	POMK	24925318	616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12	24925318
ENSG00000116783	TNNI3K	24925317	616117	Cardiac conduction disease with or without dilated cardiomyopathy	24925317
ENSG00000072042	RDH11	24916380	616108	Retinal dystrophy, juvenile cataracts, and short stature syndrome	24916380
ENSG00000132646	PCNA	24911150	615919	Ataxia-telangiectasia-like disorder	24911150
ENSG00000181541	MAB21L2	24906020	615877	Microphthalmia, syndromic 14	24906020
ENSG00000138829	FBN2	24899048	616118	Macular degeneration, early-onset	24899048
ENSG00000176887	SOX11	24886874	615866	Mental retardation, autosomal dominant, 27	24886874
ENSG00000011143	MKS1	24886560	617121	Joubert syndrome 28 	24886560
ENSG00000173588	CEP83	24882706	615862	Nephronophthisis 18 	24882706
ENSG00000171793	CTPS1	24870241	615897	Immunodeficiency 24	24870241
ENSG00000066629	EML1	24859200	600348	Band heterotopia 	24859200
ENSG00000178522	AMBN	24858907	616270	Amelogenesis imperfecta, type IF	24858907
ENSG00000143337	TOR1AIP1	24856141	617072	Muscular dystrophy, limb-girdle, type 2Y	24856141
ENSG00000079435	LIPE	24848981	615980	Lipodystrophy, familial partial, type 6	24848981
ENSG00000143374	TARS2	24827421	615918	Combined oxidative phosphorylation deficiency 21	24827421
ENSG00000105204	DYRK1B	24827035	615812	Abdominal obesity-metabolic syndrome 3	24827035
ENSG00000174010	KLHL15	24817631	300982	Mental retardation, X-linked 103	24817631
ENSG00000213853	EMP2	24814193	615861	Nephrotic syndrome, type 10	24814193
ENSG00000116641	DOCK7	24814191	615859	Epileptic encephalopathy, early infantile, 23	24814191
ENSG00000090889	KIF4A	24812067	300923	Mental retardation, X-linked 100	24812067
ENSG00000124608	AARS2	24808023	615889	Leukoencephalopathy, progressive, with ovarian failure	24808023
ENSG00000126705	AHDC1	24791903	615829	Xia-Gibbs syndrome 	24791903
ENSG00000119685	TTLL5	24791901	615860	Cone-rod dystrophy 19	24791901
ENSG00000197121	PGAP1	24784135	615802	Mental retardation, autosomal recessive 42	24784135
ENSG00000131504	DIAPH1	24781755	616632	Seizures, cortical blindness, microcephaly syndrome	24781755
ENSG00000113643	RARS	24777941	616140	Leukodystrophy, hypomyelinating, 9	24777941
ENSG00000132155	RAF1	24777450	615916	Cardiomyopathy, dilated, 1NN	24777450
ENSG00000119535	CSF3R	24753537	617014	Neutropenia, severe congenital, 7, autosomal recessive	24753537
ENSG00000138778	CENPE	24748105	616051	Microcephaly 13, primary, autosomal recessive	24748105
ENSG00000164588	HCN1	24747641	615871	Epileptic encephalopathy, early infantile, 24	24747641
ENSG00000152669	CCNO	24747639	615872	Ciliary dyskinesia, primary, 29	24747639
ENSG00000138684	IL21	24746753	615767	Immunodeficiency, common variable, 11	24746753
ENSG00000151491	EPS8	24741995	615974	Deafness, autosomal recessive 102	24741995
ENSG00000162065	TBC1D24	24729547	616044	Deafness, autosomal dominant 65	24729547
ENSG00000162065	TBC1D24	24729539	616044	Deafness, autosomal dominant 65	24729539
ENSG00000137267	TUBB2A	24702957	615763	Cortical dysplasia, complex, with other brain malformations 5	24702957
ENSG00000146648	EGFR	24691054	616069	?Inflammatory skin and bowel disease, neonatal, 2	24691054
ENSG00000088970	KIZ	24680887	615780	Retinitis pigmentosa 69 	24680887
ENSG00000011426	ANLN	24676636	616032	Focal segmental glomerulosclerosis 8	24676636
ENSG00000075891	PAX2	24676634	616002	Glomerulosclerosis, focal segmental, 7	24676634
ENSG00000013293	SLC7A14	24670872	615725	Retinitis pigmentosa 68 	24670872
ENSG00000149506	ZP1	24670168	615774	Oocyte maturation defect 1 	24670168
ENSG00000111802	TDP2	24658003	616949	Spinocerebellar ataxia, autosomal recessive 23	24658003
ENSG00000172053	QARS	24656866	615760	Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy	24656866
ENSG00000022355	GABRA1	24623842	615744	Epileptic encephalopathy, early infantile, 19	24623842
ENSG00000103264	FBXO31	24623383	615979	Mental retardation, autosomal recessive 45	24623383
ENSG00000204928	GRXCR2	24619944	615837	Deafness, autosomal recessive 101	24619944
ENSG00000119772	DNMT3A	24614070	615879	Tatton-Brown-Rahman syndrome	24614070
ENSG00000162669	HFM1	24597873	615724	Premature ovarian failure 9	24597873
ENSG00000164116	GUCY1A3	24581742	615750	Moyamoya 6 with achalasia	24581742
ENSG00000093072	ADA2	24552284	615688	Polyarteritis nodosa, childhood-onset	24552284
ENSG00000169946	ZFPM2	24549039	616067	46XY sex reversal 9	24549039
ENSG00000205336	ADGRG1	24531968	615752	Polymicrogyria, bilateral perisylvian	24531968
ENSG00000101126	ADNP	24531329	615873	Helsmoortel-van der Aa syndrome 	24531329
ENSG00000174990	CA5A	24530203	615751	Hyperammonemia due to carbonic anhydrase VA deficiency	24530203
ENSG00000182150	ERCC6L2	24507776	615715	Bone marrow failure syndrome 2	24507776
ENSG00000181038	METTL23	24501276	615942	Mental retardation, autosomal recessive 44	24501276
ENSG00000105695	MAG	24482476	616680	Spastic paraplegia 75, autosomal recessive	24482476
ENSG00000107566	ERLIN1	24482476	615681	Spastic paraplegia 62	24482476
ENSG00000116337	AMPD2	24482476	615686	Spastic paraplegia 63	24482476
ENSG00000138185	ENTPD1	24482476	615683	Spastic paraplegia 64, autosomal recessive	24482476
ENSG00000170540	ARL6IP1	24482476	615685	Spastic paraplegia 61	24482476
ENSG00000175745	NR2F1	24462372	615722	Bosch-Boonstra-Schaaf optic atrophy syndrome	24462372
ENSG00000184743	ATL3	24459106	615632	Neuropathy, hereditary sensory, type IF	24459106
ENSG00000141384	TAF4B	24431330	615841	Spermatogenic failure 13	24431330
ENSG00000141497	ZMYND15	24431330	615842	Spermatogenic failure 14	24431330
ENSG00000136875	PRPF4	24419317	615922	Retinitis pigmentosa 70	24419317
ENSG00000089818	NECAP1	24399846	615833	Epileptic encephalopathy, early infantile	24399846
ENSG00000119878	CRIPT	24389050	615789	Short stature with microcephaly and distinctive facies	24389050
ENSG00000132563	REEP2	24388663	615625	Spastic paraplegia 72, autosomal dominant	24388663
ENSG00000132563	REEP2	24388663	615625	Spastic paraplegia 72, autosomal recessive	24388663
ENSG00000137288	UQCC2	24385928	615824	Mitochondrial complex III deficiency, nuclear type 7	24385928
ENSG00000277161	PIGW	24367057	616025	Hyperphosphatasia with mental retardation syndrome 5	24367057
ENSG00000068120	COASY	24360804	615643	Neurodegeneration with brain iron accumulation 6	24360804
ENSG00000144182	LIPT1	24341803	616299	Lipoyltransferase 1 deficiency 	24341803
ENSG00000103266	STUB1	24312598	615768	Spinocerebellar ataxia, autosomal recessive 	24312598
ENSG00000115221	ITGB6	24305999	616221	Amelogenesis imperfecta, type IH	24305999
ENSG00000273079	GRIN2B	24272827	616139	Epileptic encephalopathy, early infantile	24272827
ENSG00000123815	COQ8B	24270420	615573	Nephrotic syndrome, type 9	24270420
ENSG00000239474	KLHL41	24268659	615731	Nemaline myopathy 9 	24268659
ENSG00000174007	CEP19	24268657	615703	Morbid obesity and spermatogenic failure	24268657
ENSG00000164458	TBXT	24253444	615709	Sacral agenesis with vertebral anomalies 	24253444
ENSG00000118162	KPTN	24239382	615637	Mental retardation, autosomal recessive 41	24239382
ENSG00000145331	TRMT10A	24204302	616033	Microcephaly, short stature, and impaired glucose metabolism 1	24204302
ENSG00000156973	PDE6D	24166846	615665	Joubert syndrome 22	24166846
ENSG00000070669	ASNS	24139043	615574	Asparagine synthetase deficiency 	24139043
ENSG00000056972	TRAF3IP2	24120361	615527	Candidiasis, familial, 8	24120361
ENSG00000178568	ERBB4	24119685	615515	Amyotrophic lateral sclerosis 19	24119685
ENSG00000183605	SFXN4	24119684	615578	Combined oxidative phosphorylation deficiency 18	24119684
ENSG00000166986	MARS	24103465	615486	Interstitial lung and liver disease	24103465
ENSG00000139537	CCDC65	24094744	615504	Ciliary dyskinesia, primary	24094744
ENSG00000159079	C21orf59	24094744	615500	Ciliary dyskinesia, primary, 26	24094744
ENSG00000102024	PLS3	24088043	300910	Bone mineral density QTL18, osteoporosis	24088043
ENSG00000130023	ERMARD	24056535	615544	Periventricular nodular heterotopia 6	24056535
ENSG00000104450	SPAG1	24055112	615505	Ciliary dyskinesia, primary, 28	24055112
ENSG00000115459	ELMOD3	24039609	615429	Deafness, autosomal recessive 88	24039609
ENSG00000168356	SCN11A	24036948	615548	Neuropathy, hereditary sensory and autonomic, type VII	24036948
ENSG00000144591	GMPPA	24035193	615510	Alacrima, achalasia, and mental retardation syndrome	24035193
ENSG00000117620	SLC35A3	24031089	615553	Arthrogryposis, mental retardation, and seizures	24031089
ENSG00000172379	ARNT2	24022475	615926	Webb-Dattani syndrome	24022475
ENSG00000186687	LYRM7	24014394	615838	Mitochondrial complex III deficiency, nuclear type 8	24014394
ENSG00000112706	IMPG1	23993198	616151	Macular dystrophy, vitelliform, 4	23993198
ENSG00000160188	RSPH1	23993197	615481	Ciliary dyskinesia, primary, 24	23993197
ENSG00000087258	GNAO1	23993195	615473	Epileptic encephalopathy, early infantile, 17	23993195
ENSG00000112234	FBXL4	23993193	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	23993193
ENSG00000139537	CCDC65	23991085	615504	Ciliary dyskinesia, primary	23991085
ENSG00000134760	DSG1	23974871	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE	23974871
ENSG00000263761	GDF2	23972370	615506	Telangiectasia, hereditary hemorrhagic, type 5	23972370
ENSG00000041982	TNC	23936043	615629	Deafness, autosomal dominant 56	23936043
ENSG00000163288	GABRB1	23934111	617153	Epileptic encephalopathy, early infantile, 45	23934111
ENSG00000105810	CDK6	23918663	616080	Microcephaly 12, primary, autosomal recessive	23918663
ENSG00000157388	CACNA1D	23913001	615474	Primary aldosteronism, seizures, and neurologic abnormalities	23913001
ENSG00000116337	AMPD2	23911318	615809	Pontocerebellar hypoplasia, type 9	23911318
ENSG00000179091	CYC1	23910460	615453	Mitochondrial complex III deficiency, nuclear type 6	23910460
ENSG00000004838	ZMYND10	23891469	615444	Ciliary dyskinesia, primary, 22	23891469
ENSG00000171303	KCNK3	23883380	615344	Pulmonary hypertension, primary, 4	23883380
ENSG00000256061	DNAAF4	23872636	615482	Ciliary dyskinesia, primary, 25	23872636
ENSG00000125813	PAX1	23851939	615560	Otofaciocervical syndrome 2	23851939
ENSG00000169126	ARMC4	23849778	615451	Ciliary dyskinesia, primary, 23	23849778
ENSG00000102931	ARL2BP	23849777	615434	Retinitis pigmentosa with or without situs inversus	23849777
ENSG00000006744	ELAC2	23849775	615440	Combined oxidative phosphorylation deficiency 17	23849775
ENSG00000134910	STT3A	23842455	615596	Congenital disorder of glycosylation, type Iw	23842455
ENSG00000163527	STT3B	23842455	615597	Congenital disorder of glycosylation, type Ix	23842455
ENSG00000148700	ADD3	23836506	617008	Cerebral palsy, spastic quadriplegic, 3	23836506
ENSG00000130226	DPP6	23832105	616311	Mental retardation, autosomal dominant 33	23832105
ENSG00000168538	TRAPPC11	23830518	615356	Muscular dystrophy, limb-girdle, type 2S	23830518
ENSG00000214113	LYRM4	23814038	615595	Combined oxidative phosphorylation deficiency 19	23814038
ENSG00000168955	TM4SF20	23810381	615432	Specific language impairment 5	23810381
ENSG00000165138	ANKS6	23793029	615382	Nephronophthisis 16	23793029
ENSG00000173540	GMPPB	23768512	615350	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14	23768512
ENSG00000173540	GMPPB	23768512	615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	23768512
ENSG00000102974	CTCF	23746550	615502	Mental retardation, autosomal dominant 	23746550
ENSG00000157119	KLHL40	23746549	615348	Nemaline myopathy 8, autosomal recessive	23746549
ENSG00000157869	RAB28	23746546	615374	Cone-rod dystrophy 18	23746546
ENSG00000136631	VPS45	23738510	615285	Neutropenia, severe congenital, 5, autosomal recessive	23738510
ENSG00000179455	MKRN3	23738509	615346	Precocious puberty, central, 2	23738509
ENSG00000124155	PIGT	23733340	615399	Paroxysmal nocturnal hemoglobinuria 2	23733340
ENSG00000074181	NOTCH3	23731542	615293	Myofibromatosis, infantile 2	23731542
ENSG00000172175	MALT1	23727036	615468	Immunodeficiency 12 	23727036
ENSG00000111817	DSE	23704329	615539	Ehlers-Danlos syndrome, musculocontractural type 2	23704329
ENSG00000175084	DES	23687351	615325	Muscular dystrophy, limb-girdle, type 2R	23687351
ENSG00000115866	DARS	23643384	615281	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	23643384
ENSG00000168477	TNXB	23620400	615963	Vesicoureteral reflux 8 	23620400
ENSG00000213638	ADAT3	23620220	615286	Mental retardation, autosomal recessive 36	23620220
ENSG00000133103	COG6	23606727	615328	Shaheen syndrome	23606727
ENSG00000068796	KIF2A	23603762	615411	Cortical dysplasia, complex, with other brain malformations 3	23603762
ENSG00000131462	TUBG1	23603762	615412	Cortical dysplasia, complex, with other brain malformations 4	23603762
ENSG00000152234	ATP5A1	23599390	615228	Mitochondrial complex (ATP synthase) deficiency, nuclear type 4	23599390
ENSG00000152234	ATP5A1	23596069	616045	Combined oxidative phosphorylation deficiency 22	23596069
ENSG00000168000	BSCL2	23564749	615924	Encephalopathy, progressive, with or without lipodystrophy	23564749
ENSG00000102100	SLC35A2	23561849	300896	Congenital disorder of glycosylation, type Iim	23561849
ENSG00000011376	LARS2	23541342	615300	Perrault syndrome 4	23541342
ENSG00000163378	EOGT	23522784	615297	Adams-Oliver syndrome 4	23522784
ENSG00000115657	ABCB6	23519333	615402	Dyschromatosis universalis hereditaria 3	23519333
ENSG00000185900	POMK	23519211	615249	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12	23519211
ENSG00000184144	CNTN2	23518707	615400	Epilepsy, myoclonic, familial adult, 5	23518707
ENSG00000163499	CRYBA2	23508780	115900	Cataract 42	23508780
ENSG00000114354	TFG	23479643	615658	Spastic paraplegia 57, autosomal recessive	23479643
ENSG00000091136	LAMB1	23472759	615191	Lissencephaly 5	23472759
ENSG00000181873	IBA57	23462291	615330	Multiple mitochondrial dysfunctions syndrome 3	23462291
ENSG00000135486	HNRNPA1	23455423	615426	Amyotrophic lateral sclerosis 20	23455423
ENSG00000162885	B3GALNT2	23453667	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A	23453667
ENSG00000103522	IL21R	23440042	615207	Immunodeficiency, primary, autosomal recessive,  IL21R-related	23440042
ENSG00000072110	ACTN1	23434115	615193	Bleeding disorder, platelet-type, 15	23434115
ENSG00000111752	PHC1	23418308	615414	Microcephaly 11, primary, autosomal recessive	23418308
ENSG00000150630	VEGFC	23410910	615907	Lymphedema, hereditary, ID	23410910
ENSG00000119523	ALG2	23404334	616228	Myasthenic syndrome, congenital, 14, with tubular aggregates	23404334
ENSG00000172339	ALG14	23404334	616227	Myasthenic syndrome, congenital, 15, without tubular aggregates	23404334
ENSG00000148655	LRMDA	23395477	615179	Albinism, oculocutaneous, type VII	23395477
ENSG00000170581	STAT2	23391734	616636	Immunodeficiency 44	23391734
ENSG00000214960	ISPD	23390185	616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	23390185
ENSG00000151150	ANK3	23390136	615493	Mental retardation, autosomal recessive, 37	23390136
ENSG00000143933	CALM2	23388215	616249	Long QT syndrome 15 	23388215
ENSG00000198668	CALM1	23388215	616247	Long QT syndrome 14	23388215
ENSG00000141431	ASXL3	23383720	615485	Bainbridge-Ropers syndrome	23383720
ENSG00000174684	B4GAT1	23359570	615287	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13	23359570
ENSG00000140262	TCF12	23354436	615314	Craniosynostosis 3	23354436
ENSG00000138346	DNA2	23352259	615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	23352259
ENSG00000091592	NLRP1	23349227	615225	Palmoplantar carcinoma, multiple self-healing	23349227
ENSG00000181392	SYNE4	23348741	615540	Deafness, autosomal recessive 76	23348741
ENSG00000158321	AUTS2	23332918	615834	Mental retardation, autosomal dominant 26	23332918
ENSG00000188613	NANOS1	23315541	615413	Spermatogenic failure 12	23315541
ENSG00000135900	MRPL44	23315540	615395	Combined oxidative phosphorylation deficiency 16	23315540
ENSG00000101752	MIB1	23314057	615092	Left ventricular noncompaction 7 	23314057
ENSG00000125871	MGME1	23313956	615084	Mitochondrial DNA depletion syndrome 11 	23313956
ENSG00000198799	LRIG2	23313374	615112	Urofacial syndrome 2 	23313374
ENSG00000184254	ALDH1A3	23312594	615113	Microphthalmia, isolated 8	23312594
ENSG00000182187	CRYGB	23288985	615188	Cataract 39, multiple types, autosomal dominant	23288985
ENSG00000140740	UQCRC2	23281071	615160	Mitochondrial complex III deficiency, nuclear type 5	23281071
ENSG00000105479	CCDC114	23261303	615067	Ciliary dyskinesia, primary	23261303
ENSG00000105479	CCDC114	23261302	615067	Ciliary dyskinesia, primary	23261302
ENSG00000196230	TUBB	23246003	615771	Cortical dysplasia, complex, with other brain malformations 6	23246003
ENSG00000107186	MPDZ	23240096	615219	Hydrocephalus, nonsyndromic, autosomal recessive 2	23240096
ENSG00000173898	SPTBN2	23236289	615386	Spinocerebellar ataxia, autosomal recessive 14	23236289
ENSG00000177084	POLE	23230001	615139	FILS syndrome	23230001
ENSG00000118600	TMEM5	23217329	615041	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10	23217329
ENSG00000198026	ZNF335	23178126	615095	Microcephaly 10, primary, autosomal recessive	23178126
ENSG00000196663	TECPR2	23176824	615031	Spastic paraplegia 49, autosomal recessive	23176824
ENSG00000155016	CYP2U1	23176821	615030	Spastic paraplegia 56, autosomal recessive	23176821
ENSG00000110723	EXPH5	23176819	615028	Epidermolysis bullosa, nonspecific, autosomal recessive	23176819
ENSG00000181555	SETD2	23160955	616831	Luscan-Lumish syndrome	22495309
ENSG00000131127	ZNF141	23160277	615226	?Polydactyly, postaxial, type A6	23160277
ENSG00000175115	PACS1	23159249	615009	Schuurs-Hoeijmakers syndrome 	23159249
ENSG00000183230	CTNNA3	23136403	615616	Arrhythmogenic right ventricular dysplasia, familial, 13	23136403
ENSG00000129295	LRRC6	23122589	614935	Ciliary dyskinesia, primary, 19	23122589
ENSG00000188162	OTOG	23122587	614945	Deafness, autosomal recessive 18B	23122587
ENSG00000165899	OTOGL	23122586	614944	Deafness autosomal recessive 84B 	23122586
ENSG00000185313	SCN10A	23115331	615551	Episodic pain syndrome, familial, 2	23115331
ENSG00000185000	DGAT1	23114594	615863	Diarrhea 7	23114594
ENSG00000138035	PNPT1	23084291	614932	Combined oxidative phosphorylation deficiency 13	23084291
ENSG00000138035	PNPT1	23084290	614934	Deafness, autosomal recessive 70	23084290
ENSG00000128731	HERC2	23065719	615516	Mental retardation, autosomal recessive 38	23065719
ENSG00000123364	HOXC13	23063621	614931	Ectodermal dysplasia 9, hair/nail type	23063621
ENSG00000114956	DGUOK	23043144	617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	23043144
ENSG00000198668	CALM1	23040497	614916	Ventricular tachycardia, catecholaminergic polymorphic, 4	23040497
ENSG00000101210	EEF1A2	23033978	616409	Epileptic encephalopathy, early infantile, 33	23033978
ENSG00000101901	ALG13	23033978	300884	Congenital disorder of glycosylation, type Is	23033978
ENSG00000143614	GATAD2B	23033978	615074	Mental retardation, autosomal dominant 18	23033978
ENSG00000168036	CTNNB1	23033978	615075	Mental retardation, autosomal dominant 19	23033978
ENSG00000131165	CHMP1A	23023333	614961	Pontocerebellar hypoplasia, type 8	23023333
ENSG00000173575	CHD2	23020937	615369	Epileptic encephalopathy, childhood-onset	23020937
ENSG00000205084	TMEM231	23012439	614970	Joubert syndrome 20	23012439
ENSG00000144647	POMGNT2	22958903	614830	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8	22958903
ENSG00000176225	RTTN	22939636	614833	Microcephaly, short stature, and polymicrogyria with seizures	22939636
ENSG00000100503	NIN	22933543	614851	Seckel syndrome 7 	22933543
ENSG00000140939	NOL3	22926851	614937	Myoclonus, familial cortical	22926851
ENSG00000119688	ABCD4	22922874	614857	Methylmalonic aciduria and homocystinuria, cblJ type	22922874
ENSG00000174792	ODAPH	22901946	614832	Amelogenesis imperfecta, type IIA4	22901946
ENSG00000168214	RBPJ	22883147	614814	Adams-Oliver syndrome 3	22883147
ENSG00000119977	TCTN3	22883145	614815	Joubert syndrome 18	22883145
ENSG00000159899	NPR2	22870295	615923	Epiphyseal chondrodysplasia, Miura type	22870295
ENSG00000089280	FUS	22863194	614782	Tremor, hereditary essential, 4	22863194
ENSG00000102935	ZNF423	22863007	614844	Joubert syndrome 19	22863007
ENSG00000102935	ZNF423	22863007	614844	Nephronophthisis 14	22863007
ENSG00000110274	CEP164	22863007	614845	Nephronophthisis 15	22863007
ENSG00000187608	ISG15	22859821	616126	Immunodeficiency 38	22859821
ENSG00000162004	CCDC78	22818856	614807	Myopathy, centronuclear, 4	22818856
ENSG00000155962	CLIC2	22814392	300886	Mental retardation, X-linked, syndromic 32	22814392
ENSG00000108518	PFN1	22801503	614808	Amyotrophic lateral sclerosis 18	22801503
ENSG00000092969	TGFB2	22772368	614816	Loeys-Dietz syndrome 4 	22772368
ENSG00000218336	TENM3	22766609	615145	Microphthalmia, isolated, with coloboma 9	22766609
ENSG00000155975	VPS37A	22717650	614898	Spastic paraplegia 53, autosomal recessive	22717650
ENSG00000068615	REEP1	22703882	614751	Neuronopathy, distal hereditary motor, type VB	22703882
ENSG00000171735	CAMTA1	22693284	614756	Cerebellar ataxia, nonprogressive, with mental retardation	22693284
ENSG00000134851	TMEM165	22683087	614727	Congenital disorder of glycosylation, type Iik	22683087
ENSG00000165282	PIGO	22683086	614749	Hyperphosphatasia with mental retardation syndrome 2	22683086
ENSG00000175894	TSPEAR	22678063	614861	Deafness, autosomal recessive 98	22678063
ENSG00000112992	NNT	22634753	614736	Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency	22634753
ENSG00000196091	MYBPC1	22610851	614915	Lethal congenital contracture syndrome 4	22610851
ENSG00000198589	LRBA	22608502	614700	Immunodeficiency, common variable, 8, with autoimmunity	22608502
ENSG00000135297	MTO1	22608499	614702	Combined oxidative phosphorylation deficiency 10 	22608499
ENSG00000133706	LARS	22607940	615438	Infantile liver failure syndrome 1	22607940
ENSG00000139648	KRT71	22592156	615896	Hypotrichosis 13	22592156
ENSG00000151092	NGLY1	22581936	615273	Congenital disorder of deglycosylation	22581936
ENSG00000172361	CFAP53	22577226	614779	Heterotaxy, visceral, 6, autosomal recessive	22577226
ENSG00000174780	SRP72	22541560	614675	Bone marrow failure syndrome 1 	22541560
ENSG00000151914	DST	22522446	614653	Neuropathy, hereditary sensory and autonomic, type VI	22522446
ENSG00000135924	DNAJB2	22522442	614881	Spinal muscular atrophy, distal, autosomal recessive, 5	22522442
ENSG00000174799	CEP135	22521416	614673	Microcephaly 8, primary, autosomal recessive	22521416
ENSG00000005884	ITGA3	22512483	614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	22512483
ENSG00000145982	FARS2	22499341	614946	Combined oxidative phosphorylation deficiency 14	22499341
ENSG00000168958	MFF	22499341	617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	22499341
ENSG00000086300	SNX10	22499339	615085	Osteopetrosis, autosomal recessive 8	22499339
ENSG00000181555	SETD2	22495309	616831	Luscan-Lumish syndrome	23160955
ENSG00000103356	EARS2	22492562	614924	Combined oxidative phosphorylation deficiency 12	22492562
ENSG00000140623	SEPT12	22479503	614822	Spermatogenic failure 10 	22479503
ENSG00000145244	CORIN	22437503	614595	Preeclampsia/eclampsia 5	22437503
ENSG00000070019	GUCY2C	22436048	614616	Diarrhea 6 	22436048
ENSG00000073584	SMARCE1	22426308	616938	Coffin-Siris syndrome 5	22426308
ENSG00000099956	SMARCB1	22426308	614608	Coffin-Siris syndrome 3 	22426308
ENSG00000117713	ARID1A	22426308	614607	Coffin-Siris syndrome 2	22426308
ENSG00000127616	SMARCA4	22426308	614609	Coffin-Siris syndrome 4 	22426308
ENSG00000186439	TRDN	22422768	615441	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness	22422768
ENSG00000006530	AGK	22415731	614691	Cataract 38, autosomal recessive	22415731
ENSG00000100412	ACO2	22405087	614559	Infantile cerebellar-retinal degeneration 	22405087
ENSG00000066468	FGFR2	22387015	614592	Bent bone dysplasia syndrome 	22387015
ENSG00000196876	SCN8A	22365152	614558	Epileptic encephalopathy, early infantile, 13	22365152
ENSG00000175054	ATR	22341969	614564	Cutaneous telangiectasia and cancer syndrome, familial	22341969
ENSG00000244038	DDOST	22305527	614507	Congenital disorder of glycosylation, type Ir	22305527
ENSG00000101109	STK4	22294732	614868	T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations	22294732
ENSG00000134532	SOX5	22290657	616803	Lamb-Shaffer syndrome	22290657
ENSG00000124302	CHST8	22289416	616265	Peeling skin syndrome 3	22289416
ENSG00000149483	TMEM138	22282472	614465	Joubert syndrome 16	22282472
ENSG00000106009	BRAT1	22279524	614498	Rigidity and multifocal seizure syndrome, lethal neonatal	22279524
ENSG00000163877	SNIP1	22279524	614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	22279524
ENSG00000169372	CRADD	22279524	614499	Mental retardation, autosomal recessive 34, with variant lissencephaly	22279524
ENSG00000137834	SMAD6	22275001	614823	Aortic valve disease 2	22275001
ENSG00000036257	CUL3	22266938	614496	Pseudohypoaldosteronism, type IIE	22266938
ENSG00000146021	KLHL3	22266938	614495	Pseudohypoaldosteronism, type IID	22266938
ENSG00000106080	FKBP14	22265013	614557	Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss	22265013
ENSG00000204248	COL11A2	22246659	614524	Fibrochondrogenesis 2 	22246659
ENSG00000106477	CEP41	22246503	614464	Joubert syndrome 15	22246503
ENSG00000167588	GPD1	22226083	614480	Hypertriglyceridemia, transient infantile	22226083
ENSG00000114349	GNAT1	22190596	616389	Night blindness, congenital stationary, type 1G	22190596
ENSG00000156172	C8orf37	22177090	614500	Cone-rod dystrophy 16	22177090
ENSG00000156172	C8orf37	22177090	614500	Retinitis pigmentosa 64	22177090
ENSG00000196511	TPK1	22152682	614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	22152682
ENSG00000121897	LIAS	22152680	614462	Hyperglycinemia, lactic acidosis, and seizures	22152680
ENSG00000105880	DLX5	22121204	220600	Split-hand/foot malformation 1 with sensorineural hearing loss	22121204
ENSG00000115107	STEAP3	22031863	615234	Anemia, hypochromic microcytic, with iron overload 2	22031863
ENSG00000141385	AFG3L2	22022284	614487	Spastic ataxia 5, autosomal recessive	22022284
ENSG00000157796	WDR19	22019273	614378	Cranioectodermal dysplasia 4	22019273
ENSG00000157796	WDR19	22019273	614377	Nephronophthisis 13	22019273
ENSG00000003137	CYP26B1	22019272	614416	Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies	22019272
ENSG00000151694	ADAM17	22010916	614328	Inflammatory skin and bowel disease, neonatal, 1	22010916
ENSG00000182923	CEP63	21983783	614728	Seckel syndrome 6	21983783
ENSG00000131943	C19orf12	21981780	614298	Neurodegeneration with brain iron accumulation 4 	21981780
ENSG00000157259	GATAD1	21965549	614672	Cardiomyopathy, dilated, 2B	21965549
ENSG00000131470	PSMC3IP	21963259	614324	Ovarian dysgenesis 3 	21963259
ENSG00000064313	TAF2	21937992	615599	Mental retardation, autosomal recessive 40	21937992
ENSG00000129696	TTI2	21937992	615541	Mental retardation, autosomal recessive 39	21937992
ENSG00000134759	ELP2	21937992	617270	Mental retardation autosomal recessive 58 	21937992
ENSG00000140471	LINS1	21937992	614340	Mental retardation, autosomal recessive 27	21937992
ENSG00000165078	CPA6	21922598	614417	Epilepsy, familial temporal lobe, 5	21922598
ENSG00000167207	NOD2	21914217	617321	Yao syndrome 	21914217
ENSG00000103707	MTFMT	21907147	614947	Combined oxidative phosphorylation deficiency 15	21907147
ENSG00000120053	GOT1	21900944	614419	Aspartate aminotransferase, serum level of, QTL1	21900944
ENSG00000151929	BAG3	21898660	613881	Cardiomyopathy, dilated, 1HH	21898660
ENSG00000090530	P3H2	21885030	614292	Myopia, high, with cataract and vitreoretinal degeneration	21885030
ENSG00000100697	DICER1	21882293	180295	Rhabdomyosarcoma, embryonal, 2	21882293
ENSG00000163930	BAP1	21874003	614327	Tumor predisposition syndrome	21874003
ENSG00000112282	MED23	21868677	614249	Mental retardation, autosomal recessive 18	21868677
ENSG00000136695	IL36RN	21848462	614204	Psoriasis 14, pustular	21839423
ENSG00000143469	SYT14	21835308	614229	Spinocerebellar ataxia, autosomal recessive 11	21835308
ENSG00000111837	MAK	21825139	614181	Retinitis pigmentosa 62	21825139
ENSG00000130294	KIF1A	21820098	614213	Neuropathy, hereditary sensory, type IIC	21820098
ENSG00000163104	SMARCAD1	21820097	136000	Adermatoglyphia	21820097
ENSG00000064309	CDON	21802063	614226	Holoprosencephaly 11	21802063
ENSG00000114686	MRPL3	21786366	614582	Combined oxidative phosphorylation deficiency 9	21786366
ENSG00000169515	CCDC8	21737058	614205	3-M syndrome 3	21737058
ENSG00000100722	ZC3H14	21734151	617125	Mental retardation, autosomal recessive 56	21734151
ENSG00000204852	TCTN1	21725307	614173	Joubert syndrome 13 	21725307
ENSG00000184047	DIABLO	21722859	614152	Deafness, autosomal dominant 64	21722859
ENSG00000151490	PTPRO	21722858	614196	Nephrotic syndrome, type 6	21722858
ENSG00000115415	STAT1	21714643	614162	Immunodeficiency 31C, autosomal dominant	21714643
ENSG00000102030	NAA10	21700266	300855	Ogden syndrome 	21700266
ENSG00000101361	NOP56	21683323	614153	Spinocerebellar ataxia 36 	21683323
ENSG00000166147	FBN1	21683322	614185	Geleophysic dysplasia 2 	21683322
ENSG00000164930	FZD6	21665003	614157	Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails)	21665003
ENSG00000100478	AP4S1	21620353	614067	Spastic paraplegia 52, autosomal recessive	21620353
ENSG00000134262	AP4B1	21620353	614066	Spastic paraplegia 47, autosomal recessive	21620353
ENSG00000050555	LAMC3	21572413	614115	Cortical malformations, occipital	21572413
ENSG00000168778	TCTN2	21565611	616654	Joubert syndrome 24 	21565611
ENSG00000166813	KIF7	21552264	614120	Hydrolethalus syndrome 2	21552264
ENSG00000124608	AARS2	21549344	614096	Combined oxidative phosphorylation deficiency 8	21549344
ENSG00000104331	IMPAD1	21549340	614078	Chondrodysplasia with joint dislocations, GPAPP type	21549340
ENSG00000108433	GOSR2	21549339	614018	Epilepsy, progressive myoclonic 6	21549339
ENSG00000101161	PRPF6	21549338	613983	Retinitis pigmentosa 	21549338
ENSG00000175334	BANF1	21549337	614008	Nestor-Guillermo progeria syndrome 	21549337
ENSG00000119723	COQ6	21540551	614650	Coenzyme Q10 deficiency, primary, 6	21540551
ENSG00000136051	WASHC4	21498477	615817	Mental retardation, autosomal recessive 43	21498477
ENSG00000119661	DNAL1	21496787	614017	Ciliary dyskinesia, primary	21496787
ENSG00000197563	PIGN	21493957	614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	21493957
ENSG00000105357	MYH14	21480433	614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss	21480433
ENSG00000183513	COA5	21457908	616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3	21457908
ENSG00000104356	POP1	21455487	617396	Anauxetic dysplasia 2	21455487
ENSG00000196116	TDRD7	21436445	613887	Cataract 36 	21436445
ENSG00000148842	CNNM2	21397062	613882	Hypomagnesemia 6, renal	21397062
ENSG00000197616	MYH6	21378987	614090	Sick sinus syndrome 3	21378987
ENSG00000088367	EPB41L1	21376300	614257	Mental retardation, autosomal dominant 11	21376300
ENSG00000130294	KIF1A	21376300	614255	Mental retardation, autosomal dominant 9	21376300
ENSG00000166862	CACNG2	21376300	614256	Mental retardation, autosomal dominant 10	21376300
ENSG00000176884	GRIN1	21376300	614254	Mental retardation, autosomal dominant 8	21376300
ENSG00000151929	BAG3	21353195	613881	Cardiomyopathy, dilated, 1HH	21353195
ENSG00000112116	IL17F	21350122	613956	Candidiasis, familial, 6, autosomal dominant	21350122
ENSG00000166819	PLIN1	21345103	613877	Lipodystrophy, familial partial, type 4	21345103
ENSG00000117594	HSD11B1	21325058	614662	Cortisone reductase deficiency 2	21325058
ENSG00000163646	CLRN1	21310491	614180	Retinitis pigmentosa 61	21310491
ENSG00000117682	DHDDS	21295283	613861	Retinitis pigmentosa 59	21295282
ENSG00000052802	MSMO1	21285510	616834	Microcephaly, congenital cataract, and psoriasiform dermatitis	21285510
ENSG00000011295	TTC19	21278747	615157	Mitochondrial complex III deficiency, nuclear type 2	21278747
ENSG00000123607	TTC21B	21258341	613820	Nephronophthisis 12	21258341
ENSG00000123607	TTC21B	21258341	613819	Short-rib thoracic dysplasia 4 with or without polydactyly	21258341
ENSG00000104835	SARS2	21255763	613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis	21255763
ENSG00000136574	GATA4	21220346	615542	Testicular anomalies with or without congenital heart disease	21220346
ENSG00000166949	SMAD3	21217753	613795	Loeys-Dietz syndrome 3 	21217753
ENSG00000277734	TRAC	21206088	615387	Immunodeficiency 7, TCR-alpha/beta deficient	21206088
ENSG00000141499	WRAP53	21205863	613988	Dyskeratosis congenita, autosomal recessive 3	21205863
ENSG00000101347	SAMHD1	21204240	614415	Chilblain lupus 2 	21204240
ENSG00000227268	KLLN	21177507	615107	Cowden syndrome 4 	21177507
ENSG00000103995	CEP152	21131973	613823	Seckel syndrome 5	21131973
ENSG00000145075	CCDC39	21131972	613807	Ciliary dyskinesia, primary, 14	21131972
ENSG00000157388	CACNA1D	21131953	614896	Sinoatrial node dysfunction and deafness	21131953
ENSG00000183072	NKX2-5	21110066	614432	Ventricular septal defect 3	21110066
ENSG00000178209	PLEC	21109228	613723	Muscular dystrophy, limb-girdle, type 2Q	21109228
ENSG00000168040	FADD	21109225	613759	Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations	21109225
ENSG00000166086	JAM3	21109224	613730	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts	21109224
ENSG00000166948	TGM6	21106500	613908	Spinocerebellar ataxia 35	21106500
ENSG00000160746	ANO10	21092923	613728	Spinocerebellar ataxia, autosomal recessive 10	21092923
ENSG00000177030	DEAF1	21076407	615828	Mental retardation, autosomal dominant 24	21076407
ENSG00000197102	DYNC1H1	21076407	614563	Mental retardation, autosomal dominant 13	21076407
ENSG00000107951	MTPAP	20970105	613672	Spastic ataxia 4, autosomal recessive	20970105
ENSG00000164736	SOX17	20960469	613674	Vesicoureteral reflux 3	20960469
ENSG00000114861	FOXP1	20950788	613670	Mental retardation with language impairment and with or without autistic features	20571508
ENSG00000042429	MED17	20950787	613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	20950787
ENSG00000080815	PSEN1	20929727	613737	Acne inversa, familial, 3	20929727
ENSG00000205155	PSENEN	20929727	613736	Acne inversa, familial, 2	20929727
ENSG00000100596	SPTLC2	20920666	613640	Neuropathy, hereditary sensory and autonomic, type IC	20920666
ENSG00000273079	GRIN2B	20890276	613970	Mental retardation, autosomal dominant 6	20890276
ENSG00000136931	NR5A1	20887963	613957	Spermatogenic failure 8	20887963
ENSG00000074621	SLC24A1	20850105	613830	Night blindness, congenital stationary (complete), 1D, autosomal recessive	20850105
ENSG00000182621	PLCB1	20833646	613722	Epileptic encephalopathy, early infantile, 12	20833646
ENSG00000258947	TUBB3	20829227	614039	Cortical dysplasia, complex, with other brain malformations 1	20829227
ENSG00000145016	RUBCN	20826435	615705	Spinocerebellar ataxia, autosomal recessive 15	20826435
ENSG00000118965	WDR35	20817137	613610	Cranioectodermal dysplasia 2	20817137
ENSG00000148600	CDHR1	20805371	613660	Cone-rod dystrophy 15	20805371
ENSG00000148600	CDHR1	20805371	613660	Retinitis pigmentosa 65	20805371
ENSG00000134389	CFHR5	20800271	614809	Nephropathy due to CFHR5 deficiency	20800271
ENSG00000241935	HOGA1	20797690	613616	Hyperoxaluria, primary, type III	20797690
ENSG00000163795	ZNF513	20797688	613617	Retinitis pigmentosa 58	20797688
ENSG00000125965	GDF5	20683927	615072	Brachydactyly, type A1, C	20683927
ENSG00000105610	KLF1	20676099	613566	Hereditary persistence of fetal hemoglobin	20676099
ENSG00000008441	NFIX	20673863	614753	Sotos syndrome 2 	20673863
ENSG00000081148	IMPG2	20673862	613581	Retinitis pigmentosa 56 	20673862
ENSG00000185527	PDE6G	20655036	613582	Retinitis pigmentosa 57	20655036
ENSG00000141448	GATA6	20631719	614475	Atrial septal defect 9	20631719
ENSG00000242802	AP5Z1	20613862	613647	Spastic paraplegia 48, autosomal recessive	20613862
ENSG00000133103	COG6	20605848	614576	Congenital disorder of glycosylation, type Iil	20605848
ENSG00000130921	C12orf65	20598281	613559	Combined oxidative phosphorylation deficiency 7	20598281
ENSG00000073578	SDHA	20551992	613642	Cardiomyopathy, dilated, 1GG	20551992
ENSG00000104321	TRPA1	20547126	615040	Episodic pain syndrome, familial	20547126
ENSG00000198835	GJC2	20537300	613480	Lymphedema, hereditary, IC	20537300
ENSG00000167775	CD320	20524213	613646	Methylmalonic aciduria, transient, due to transcobalamin receptor defect	20524213
ENSG00000030582	GRN	20522652	614706	Ceroid lipofuscinosis, neuronal, 11	20522652
ENSG00000055208	TAB2	20493459	614980	Congenital heart defects, nonsyndromic, 2	20493459
ENSG00000073578	SDHA	20484225	614165	Paragangliomas 5	20484225
ENSG00000165533	TTC8	20451172	613464	Retinitis pigmentosa 51	20451172
ENSG00000180318	ALX1	20451171	613456	Frontonasal dysplasia 3	20451171
ENSG00000124570	SERPINB6	20451170	613453	Deafness, autosomal recessive 91	20451170
ENSG00000123240	OPTN	20428114	613435	Amyotrophic lateral sclerosis 12	20428114
ENSG00000141756	FKBP10	20362275	610968	Osteogenesis imperfecta, type XI	20362275
ENSG00000156709	AIFM1	20362274	300816	Combined oxidative phosphorylation deficiency 6	20362274
ENSG00000163754	GYG1	20357282	613507	Glycogen storage disease XV	20357282
ENSG00000110651	CD81	20237408	613496	Immunodeficiency, common variable, 6	20237408
ENSG00000151445	VIPAS39	20190753	613404	Arthrogryposis, renal dysfunction, and cholestasis 2	20190753
ENSG00000149257	SERPINH1	20188343	613848	Osteogenesis imperfecta, type X	20188343
ENSG00000196236	XPNPEP3	20179356	613159	Nephronophthisis-like nephropathy 1	20179356
ENSG00000176058	TPRN	20170899	613307	Deafness, autosomal recessive 79	20170899
ENSG00000078747	ITCH	20170897	613385	Autoimmune disease, multisystem, with facial dysmorphism	20170897
ENSG00000087494	PTHLH	20170896	613382	Brachydactyly, type E2	20170896
ENSG00000151914	DST	20164846	615425	Epidermolysis bullosa simplex, autosomal recessive 2	20164846
ENSG00000169271	HSPB3	20142617	613376	Neuronopathy, distal hereditary motor, type IIC	20142617
ENSG00000215203	GRXCR1	20137778	613285	Deafness, autosomal recessive 25	20137778
ENSG00000013573	DDX11	20137776	613398	Warsaw breakage syndrome 	20137776
ENSG00000039650	PNKP	20118933	613402	Microcephaly, seizures, and developmental delay	20118933
ENSG00000148600	CDHR1	20087419	613660	Cone-rod dystrophy 15	20087419
ENSG00000253710	ALG11	20080937	613661	Congenital disorder of glycosylation, type Ip	20080937
ENSG00000196091	MYBPC1	20045868	614335	Arthrogryposis, distal, type 1B	20045868
ENSG00000156738	MS4A1	20038800	613495	Immunodeficiency, common variable, 5	20038800
ENSG00000113966	ARL6	19956407	613575	Retinitis pigmentosa 55	19956407
ENSG00000154099	DNAAF1	19944400	613193	Ciliary dyskinesia, primary, 13	19944400
ENSG00000284547	MIR2861	19920351	613418	Bone mineral density QTL 15	19920351
ENSG00000179915	NRXN1	19896112	614325	Pitt-Hopkins-like syndrome 2 	19896112
ENSG00000183785	TUBA8	19896110	613180	Polymicrogyria with optic nerve hypoplasia	19896110
ENSG00000110324	IL10RA	19890111	613148	Inflammatory bowel disease 28, early onset, autosomal recessive	19890111
ENSG00000162614	NEXN	19881492	613122	Cardiomyopathy, dilated, 1CC	19881492
ENSG00000213139	CRYGS	16141006	116100	Cataract 20, multiple types	16141006
ENSG00000026025	VIM	19126778	116300	Cataract 	19126778
ENSG00000074582	BCS1L	11528392	124000	Mitochondrial complex III deficiency, nuclear type 1	11528392
ENSG00000084674	APOB	4368448	144010	Hypercholesterolemia, due to ligand-defective apo B	4368448
ENSG00000109163	GNRHR	9371856	146110	Hypogonadotropic hypogonadism 7 without anosmia	9371856
ENSG00000185245	GP1BA	1730088	153670	Bernard-Soulier syndrome, type A2 (dominant)	1730088
ENSG00000198691	ABCA4	9295268	153800	Macular degeneration, age-related, 2	9295268
ENSG00000162552	WNT4	15317892	158330	Mullerian aplasia and hyperandrogenism	15317892
ENSG00000134575	ACP2	5410815	200950	Lysosomal acid phosphatase deficiency	5410815
ENSG00000139197	PEX5	7719337	202370	Peroxisome biogenesis disorder 2B	7719337
ENSG00000105953	OGDH	7075624	203740	Alpha-ketoglutarate dehydrogenase deficiency	7075624
ENSG00000179583	CIITA		209920	Bare lymphocyte syndrome, type II, complementation group A	650344
ENSG00000168282	MGAT2	8808595	212066	Congenital disorder of glycosylation, type Iia	8808595
ENSG00000166278	C2	14446782	217000	C2 deficiency 	14446782
ENSG00000240505	TNFRSF13B	16007087	240500	Immunodeficiency, common variable, 2	16007087
ENSG00000240505	TNFRSF13B	16007086	240500	Immunodeficiency, common variable, 2	16007086
ENSG00000101292	PROKR2	17054399	244200	Hypogonadotropic hypogonadism 3 with or without anosmia	17054399
ENSG00000082175	PGR	217888	264080	Progesterone resistance	217888
ENSG00000269335	IKBKG	11242109	300301	Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency	11242109
ENSG00000130821	SLC6A8	11326334	300352	Cerebral creatine deficiency syndrome 1	11326334
ENSG00000102145	GATA1	10700180	300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	10700180
ENSG00000089289	IGBP1	14556245	300472	Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia	14556245
ENSG00000008056	SYN1	14985377	300491	Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 	14985377
ENSG00000269335	IKBKG	15356572	300584	Immunodeficiency, isolated	15577852
ENSG00000124429	POF1B	16773570	300604	Premature ovarian failure 2B	16773570
ENSG00000131089	ARHGEF9	15215304	300607	Epileptic encephalopathy, early infantile, 8	15215304
ENSG00000189221	MAOA	8211186	300615	Brunner syndrome 	8503438
ENSG00000189221	MAOA	8211186	300615	Antisocial behavior 	8503438
ENSG00000102081	FMR1	11445641	300623	Fragile X tremor/ataxia syndrome 	11445641
ENSG00000269335	IKBKG	16818673	300636	Immunodeficiency 33	16818673
ENSG00000102359	SRPX2	16497722	300643	Rolandic epilepsy, mental retardation, and speech dyspraxia	16497722
ENSG00000147044	CASK	19165920	300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	19165920
ENSG00000158578	ALAS2	18760763	300752	Protoporphyria, erythropoietic, X-linked	18760763
ENSG00000198223	CSF2RA	18955567	300770	Surfactant metabolism dysfunction, pulmonary, 4	18955570
ENSG00000188706	ZDHHC9	17436253	300799	Mental retardation, X-linked syndromic, Raymond type	17436253
ENSG00000102003	SYP	19377476	300802	Mental retardation, X-linked 96	19377476
ENSG00000101850	GPR143	17516023	300814	Nystagmus 6, congenital, X-linked	18087240
ENSG00000147383	NSDHL	19377476	300831	CK syndrome 	19842190
ENSG00000156313	RPGR	12160730	300834	Macular degeneration, X-linked atrophic	12160730
ENSG00000082458	DLG3	15185169	300850	Mental retardation, X-linked 90	15185169
ENSG00000077721	UBE2A	16909393	300860	Mental retardation, X-linked syndromic, Nascimento-type	16909393
ENSG00000147155	EBP	12503101	300960	MEND syndrome 	12503101
ENSG00000155966	AFF2	1301146	309548	Mental retardation, X-linked, FRAXE type	1301146
ENSG00000152661	GJA1	11470490	600309	Atrioventricular septal defect 3	11470490
ENSG00000105639	JAK3	7659163	600802	SCID, autosomal recessive, T-negative/B-positive type	7659163
ENSG00000087086	FTL	7493028	600886	Hyperferritinemia-cataract syndrome	7669675
ENSG00000151067	CACNA1C	15454078	601005	Timothy syndrome 	15454078
ENSG00000036828	CASR	7874174	601198	Hypocalcemia, autosomal dominant	7874174
ENSG00000144452	ABCA12	8845852	601277	Ichthyosis, congenital, autosomal recessive 4A	8845852
ENSG00000170624	SGCD	8841194	601287	Muscular dystrophy, limb-girdle, type 2F	8841194
ENSG00000163599	CTLA4	8817351	601388	Diabetes mellitus, insulin-dependent, 12	8817351
ENSG00000187486	KCNJ11	8923010	601820	Hyperinsulinemic hypoglycemia, familial, 2	8923010
ENSG00000091010	POU4F3	9506947	602459	Deafness, autosomal dominant 15	9506947
ENSG00000106633	GCK	9435328	602485	Hyperinsulinemic hypoglycemia, familial, 3	9435328
ENSG00000068078	FGFR3	9042914	602849	Muenke syndrome 	9042914
ENSG00000135604	STX11	15703195	603552	Hemophagocytic lymphohistiocytosis, familial, 4	15703195
ENSG00000180644	PRF1	10583959	603553	Hemophagocytic lymphohistiocytosis, familial, 2	9915956
ENSG00000109927	TECTA	9949200	603629	Deafness, autosomal recessive 	9949200
ENSG00000183873	SCN5A	7956363	603830	Long QT syndrome-3	8541846
ENSG00000198691	ABCA4	9466990	604116	Cone-rod dystrophy 3	9466990
ENSG00000163536	SERPINI1	10517635	604218	Encephalopathy, familial, with neuroserpin inclusion bodies	10517635
ENSG00000160202	CRYAA	9467006	604219	Cataract 9, multiple types	9467006
ENSG00000112964	GHR	7565946	604271	Growth hormone insensitivity, partial	7565946
ENSG00000156475	PPP2R2B	10581021	604326	Spinocerebellar ataxia 12	10581021
ENSG00000132170	PPARG	10622252	604367	Lipodystrophy, familial partial, type 3	10622252
ENSG00000130489	SCO2	10545952	604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	10545952
ENSG00000081277	PKP1	9326952	604536	Ectodermal dysplasia/skin fragility syndrome	9326952
ENSG00000198807	PAX9	10615120	604625	Tooth agenesis, selective, 3	10615120
ENSG00000120149	MSX2	8106171	604757	Craniosynostosis 2	8357019
ENSG00000175084	DES	10430757	604765	Cardiomyopathy, dilated, 1I	10430757
ENSG00000151623	NR3C2	10884226	605115	Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy	10884226
ENSG00000105048	TNNT1	10952871	605355	Nemaline myopathy 5, Amish type	10952871
ENSG00000112319	EYA4	10769282	605362	Cardiomyopathy, dilated, 1J	10769282
ENSG00000160716	CHRNB2	11062464	605375	Epilepsy, nocturnal frontal lobe, 3	11062464
ENSG00000180176	TH	7814018	605407	Segawa syndrome, recessive	7814018
ENSG00000073734	ABCB11	15300568	605479	Cholestasis, benign recurrent intrahepatic, 2	15300568
ENSG00000152591	DSPP	11175790	605594	Deafness, autosomal dominant 39, with dentinogenesis	11175790
ENSG00000132837	DMGDH	10102904	605850	Dimethylglycine dehydrogenase deficiency	10102904
ENSG00000177156	TALDO1	11283793	606003	Transaldolase deficiency 	11283793
ENSG00000115275	MOGS	10788335	606056	Congenital disorder of glycosylation, type Iib	10788335
ENSG00000196586	MYO6	11468689	606346	Deafness, autosomal dominant 22	11468689
ENSG00000134460	IL2RA	9096364	606367	Immunodeficiency 41 with lymphoproliferation and autoimmunity	9096364
ENSG00000162992	NEUROD1	10545951	606394	Maturity-onset diabetes of the young 6	10545951
ENSG00000164175	SLC45A2	11574907	606574	Albinism, oculocutaneous, type IV	11574907
ENSG00000174405	LIG4	11779494	606593	LIG4 syndrome	11779494
ENSG00000171867	PRNP	9266722	606688	Prion disease with protracted course	9266722
ENSG00000165091	TMC1	11850618	606705	Deafness, autosomal dominant 36	11850618
ENSG00000147889	CDKN2A	7666917	606719	Pancreatic cancer/melanoma syndrome	7666917
ENSG00000135636	DYSF	9731526	606768	Myopathy, distal, with anterior tibial onset	9731526
ENSG00000101017	CD40	11675497	606843	Immunodeficiency with hyper-IgM, type 3	11675497
ENSG00000155719	OTOA	11972037	607039	Deafness, autosomal recessive 22	11972037
ENSG00000095777	MYO3A	12032315	607101	Deafness, autosomal recessive 	12032315
ENSG00000125454	SLC25A19	12185364	607196	Microcephaly, Amish type	12376931
ENSG00000140279	DUOX2	12110737	607200	Thyroid dyshormonogenesis 6 	12110737
ENSG00000003393	ALS2	12145748	607225	Spastic paralysis, infantile onset ascending	12145748
ENSG00000042088	TDP1	12244316	607250	Spinocerebellar ataxia, autosomal recessive with axonal neuropathy	12244316
ENSG00000197912	SPG7	9635427	607259	Spastic paraplegia 7, autosomal recessive	9635427
ENSG00000064012	CASP8	12353035	607271	Autoimmune lymphoproliferative syndrome, type IIB	12353035
ENSG00000109929	SC5D	12189593	607330	Lathosterolosis	12189593
ENSG00000170262	MRAP	15654338	607398	Glucocorticoid deficiency 2	15654338
ENSG00000096696	DSP	12373648	607450	Arrhythmogenic right ventricular dysplasia 8	12373648
ENSG00000140522	RLBP1	10102298	607475	Bothnia retinal dystrophy 	10102298
ENSG00000129170	CSRP3	12507422	607482	Cardiomyopathy, dilated, 1M	12507422
ENSG00000053918	KCNQ1	12522251	607554	Atrial fibrillation, familial, 3	12522251
ENSG00000204843	DCTN1	12627231	607641	Neuropathy, distal hereditary motor, type VIIB	12627231
ENSG00000167768	KRT1	11982762	607654	Keratosis palmoplantaris striata III	11982762
ENSG00000096696	DSP	11841538	607655	Skin fragility-woolly hair syndrome 	11841538
ENSG00000277586	NEFL	12566280	607734	Charcot-Marie-Tooth disease, type 1F	12566280
ENSG00000163501	IHH	12632327	607778	Acrocapitofemoral dysplasia	12624140
ENSG00000196586	MYO6	12687499	607821	Deafness, autosomal recessive 37	12687499
ENSG00000198087	CD2AP	12764198	607832	Glomerulosclerosis, focal segmental, 3	12764198
ENSG00000119523	ALG2	12684507	607906	Congenital disorder of glycosylation, type Ii	12684507
ENSG00000186765	FSCN2	11527955	607921	Retinitis pigmentosa 30	11527955
ENSG00000136574	GATA4	12845333	607941	Atrial septal defect 2 	12845333
ENSG00000172269	DPAGT1	12872255	608093	Congenital disorder of glycosylation, type Ij	12872255
ENSG00000076248	UNG	12958596	608106	Immunodeficiency with hyper IgM, type 5	12958596
ENSG00000092200	RPGRIP1	12920076	608194	Cone-rod dystrophy 13 	12920076
ENSG00000128340	RAC2	10758162	608203	Neutrophil immunodeficiency syndrome 	10758162
ENSG00000068305	MEF2A	14645853	608320	Coronary artery disease, autosomal dominant, 1	14645853
ENSG00000120708	TGFBI	9497262	608471	Corneal dystrophy, lattice type IIIA	9497262
ENSG00000069431	ABCC9	15034580	608569	Cardiomyopathy, dilated, 1O	15034580
ENSG00000168646	AXIN2	15042511	608615	Oligodontia-colorectal cancer syndrome 	15042511
ENSG00000124164	VAPB	15372378	608627	Amyotrophic lateral sclerosis 8	15060112
ENSG00000106211	HSPB1	15122254	608634	Neuropathy, distal hereditary motor, type IIB	15122254
ENSG00000083307	GRHL2	12393799	608641	Deafness, autosomal dominant 28, 	12393799
ENSG00000188095	MESP2	15122512	608681	Spondylocostal dysostosis 2, autosomal recessive	15122512
ENSG00000132031	MATN3	15121775	608728	Spondyloepimetaphyseal dysplasia	15121775
ENSG00000230223	ATXN8OS	10192387	608768	Spinocerebellar ataxia 8	10192387
ENSG00000086848	ALG9	15148656	608776	Congenital disorder of glycosylation, type Il	15148656
ENSG00000168434	COG7	15107842	608779	Congenital disorder of glycosylation, type Iie	15107842
ENSG00000000419	DPM1	10642597	608799	Congenital disorder of glycosylation, type Ie	10642597
ENSG00000189241	TSPYL1	15273283	608800	Sudden infant death with dysgenesis of the testes syndrome	15273283
ENSG00000198835	GJC2	15192806	608804	Leukodystrophy, hypomyelinating, 2	15192806
ENSG00000133424	LARGE1	12966029	608840	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	12966029
ENSG00000163132	MSX1	9683588	608874	Orofacial cleft 5 	9683588
ENSG00000092929	UNC13D	14622600	608898	Hemophagocytic lymphohistiocytosis, familial, 3	14622600
ENSG00000153563	CD8A	11435463	608957	CD8 deficiency, familial	11435463
ENSG00000183770	FOXL2	12149404	608996	Premature ovarian failure 3	12149404
ENSG00000187017	ESPN	15286153	609006	Deafness, autosomal recessive 36, Deafness, neurosensory, without vestibular involvement, autosomal dominant	15286153
ENSG00000168827	GFM1	15537906	609060	Combined oxidative phosphorylation deficiency 1 	15537906
ENSG00000171812	COL8A2	11689488	609140	Corneal dystrophy, posterior polymorphous 2	11689488
ENSG00000139219	COL2A1	8244341	609162	Czech dysplasia	8244341
ENSG00000129255	MPDU1	11733564	609180	Congenital disorder of glycosylation, type If	11733556
ENSG00000129255	MPDU1	11733556	609180	Congenital disorder of glycosylation, type If	11733556
ENSG00000106799	TGFBR1	15731757	609192	Loeys-Dietz syndrome 1	15731757
ENSG00000186081	KRT5	12925204	609352	Epidermylysis bullosa simplex-MCR	12925204
ENSG00000138696	BMPR1B	15805157	609441	Acromesomelic dysplasia, Demirhan type	15805157
ENSG00000122367	LDB3	15668942	609452	Myopathy, myofibrillar, 4	15668942
ENSG00000099940	SNAP29	15968592	609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	15968592
ENSG00000150275	PCDH15	14570705	609533	Deafness, autosomal recessive 23	14570705
ENSG00000066468	FGFR2	16061565	609579	Scaphocephaly, maxillary retrusion, and mental retardation	16061565
ENSG00000053918	KCNQ1	15159330	609621	Short QT syndrome 2	15159330
ENSG00000123700	KCNJ2	15761194	609622	Short QT syndrome 3	15761194
ENSG00000096696	DSP	16175511	609638	Epidermolysis bullosa, lethal acantholytic	16175511
ENSG00000187742	SECISBP2	16228000	609698	Thyroid hormone metabolism, abnormal	16228000
ENSG00000204248	COL11A2	16033917	609706	Deafness, autosomal recessive 53	16033917
ENSG00000115138	POMC	9620771	609734	Obesity, adrenal insufficiency, and red hair due to POMC deficiency	9620771
ENSG00000100053	CRYBB3	15914629	609741	Cataract 22 	15914629
ENSG00000135766	EGLN1	16407130	609820	Erythrocytosis, familial, 3	16407130
ENSG00000100106	TRIOBP	16385458	609823	Deafness, autosomal recessive 28	16385458
ENSG00000166349	RAG1	16276422	609889	Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity	16276422
ENSG00000198523	PLN	12610310	609909	Cardiomyopathy, dilated, 1P	12610310
ENSG00000243989	ACY1	16274666	609924	Aminoacylase 1 deficiency	16274666
ENSG00000171105	INSR	15161766	609968	Hyperinsulinemic hypoglycemia, familial, 5	15161766
ENSG00000196177	ACADSB	11013134	610006	2-methylbutyrylglycinuria 	11013134
ENSG00000135821	GLUL	16267323	610015	Glutamine deficiency, congenital	16267323
ENSG00000256525	POLG2	16685652	610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	16685652
ENSG00000046604	DSG2	16505173	610193	Arrhythmogenic right ventricular dysplasia 10 	16505173
ENSG00000205981	DNAJC19	16055927	610198	3-methylglutaconic aciduria, type V	16055927
ENSG00000178573	MAF	11772997	610202	Cataract 21, multiple types	11772997
ENSG00000141579	ZNF750	16751772	610227	Seborrhea-like dermatitis with psoriasiform elements	16751772
ENSG00000155256	ZFYVE27	16826525	610244	Spastic paraplegia 33, autosomal dominant	16826525
ENSG00000068615	REEP1	16826527	610250	Spastic paraplegia 31, autosomal dominant	16826527
ENSG00000196189	SEMA4A	16199541	610282	Retinitis pigmentosa 35 	16199541
ENSG00000196189	SEMA4A	16199541	610283	Cone-rod dystrophy 10 	16199541
ENSG00000143315	PIGM	16767100	610293	Glycosylphosphatidylinositol deficiency	16767100
ENSG00000175505	CLCF1	16782820	610313	Cold-induced sweating syndrome 2	16782820
ENSG00000120903	CHRNA2	16826524	610353	Epilepsy, nocturnal frontal lobe, type 4	16826524
ENSG00000122859	NEUROG3	16855267	610370	Diarrhea 4, malabsorptive, congenital	16855267
ENSG00000006071	ABCC8	16885549	610374	Diabetes mellitus transient neonatal 2 	16885549
ENSG00000173976	RAX2	15028672	610381	Cone-rod dystrophy 11	15028672
ENSG00000175544	CABP4	16960802	610427	Cone-rod synaptic disorder, congenital nonprogressive	16960802
ENSG00000068078	FGFR3	17033969	610474	CATSHL syndrome 	17033969
ENSG00000128655	PDE11A	16767104	610475	Pigmented nodular adrenocortical disease, primary, 2	16767104
ENSG00000151062	CACNA2D4	17033974	610478	Retinal cone dystrophy 4	17033974
ENSG00000182180	MRPS16	15505824	610498	Combined oxidative phosphorylation deficiency 2	15505824
ENSG00000123297	TSFM	17033963	610505	Combined oxidative phosphorylation deficiency 3	17033963
ENSG00000172059	KLF11	15774581	610508	Maturity-onset diabetes of the young, type VII	15774581
ENSG00000122591	FAM126A	16951682	610532	Leukodystrophy, hypomyelinating, 5	16951682
ENSG00000214140	PRCD	16938425	610599	Retinitis pigmentosa 36	16938425
ENSG00000107859	PITX3	9620774	610623	Cataract 11, multiple types	9620774
ENSG00000107859	PITX3	9620774	610623	Cataract 11, syndromic	9620774
ENSG00000163421	PROK2	17054399	610628	Hypogonadotropic hypogonadism 4 with or without anosmia	17054399
ENSG00000178952	TUFM	17160893	610678	Combined oxidative phosphorylation deficiency 4	17160893
ENSG00000165410	CFL2	17160903	610687	Nemaline myopathy 7, autosomal recessive	17160903
ENSG00000000971	CFH	15761122	610698	Macular degeneration, age-related, 4	15761122
ENSG00000128714	HOXD13	17236141	610713	Brachydactyly-syndactyly syndrome	17236141
ENSG00000138193	PLCE1	17086182	610725	Nephrotic syndrome, type 3	17086182
ENSG00000111276	CDKN1B	17030811	610755	Multiple endocrine neoplasia, type IV	17030811
ENSG00000104884	ERCC2	11443545	610756	Cerebrooculofacioskeletal syndrome 2	11443545
ENSG00000012061	ERCC1	17273966	610758	Cerebrooculofacioskeletal syndrome 4	17273966
ENSG00000175283	DOLK	17273964	610768	Congenital disorder of glycosylation, type Im	17273964
ENSG00000075415	SLC25A3	17273968	610773	Mitochondrial phosphate carrier deficiency 	17273968
ENSG00000086288	NME8	17360648	610852	Ciliary dyskinesia, primary, 6	17360648
ENSG00000185008	ROBO2	17357069	610878	Vesicoureteral reflux 2	17357069
ENSG00000177045	SIX5	17357085	610896	Branchiootorenal syndrome 2	17357085
ENSG00000168484	SFTPC	11207353	610913	Surfactant metabolism dysfunction, pulmonary, 2	11207353
ENSG00000167972	ABCA3	15044640	610921	Surfactant metabolism dysfunction, pulmonary, 3	15044640
ENSG00000070018	LRP6	17332414	610947	Coronary artery disease, autosomal dominant, 2	17332414
ENSG00000175595	ERCC4	17183314	610965	XFE progeroid syndrome	17183314
ENSG00000136352	NKX2-1	9565498	610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	9565498
ENSG00000135069	PSAT1	17436247	610992	Phosphoserine aminotransferase deficiency, 20	17436247
ENSG00000137710	RDX	17226784	611022	Deafness, autosomal recessive 24	17226784
ENSG00000235718	MFRP	17167404	611040	Microphthalmia, isolated 5	17167404
ENSG00000266173	STRADA	17522105	611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy	17522105
ENSG00000164418	GRIK2	17847003	611092	Mental retardation, autosomal recessive, 6	17847003
ENSG00000213380	COG8	17220172	611182	Congenital disorder of glycosylation, type Iih	17220172
ENSG00000166685	COG1	16537452	611209	Congenital disorder of glycosylation, type Iig	16537452
ENSG00000068885	IFT80	17468754	611263	Short-rib thoracic dysplasia 2 with or without polydactyly	17468754
ENSG00000164532	TBX20	17668378	611363	Atrial septal defect 4 	17668378
ENSG00000186111	PIP5K1C	17701898	611369	Lethal congenital contractural syndrome 3	17701898
ENSG00000125730	C3	17634448	611378	Macular degeneration, age-related, 9	17634448
ENSG00000125864	BFSP1	17225135	611391	Cataract 33 	17225135
ENSG00000035403	VCL	11815424	611407	Cardiomyopathy, dilated, 1W	11815424
ENSG00000166068	SPRED1	17704776	611431	Legius syndrome 	17704776
ENSG00000103249	CLCN7	11207362	611490	Osteopetrosis, autosomal recessive 4	11741829
ENSG00000126603	GLIS2	17618285	611498	Nephronophthisis 7 	17618285
ENSG00000105397	TYK2	17088085	611521	Immunodeficiency 35	17088085
ENSG00000146282	RARS2	17847012	611523	Pontocerebellar hypoplasia, type 6	17847012
ENSG00000173801	JUP	17924338	611528	Arrhythmogenic right ventricular dysplasia 12	17924338
ENSG00000100122	CRYBB1	12360425	611544	Cataract 17, multiple types	12360425
ENSG00000106410	NOBOX	17701902	611548	Premature ovarian failure 5	17701902
ENSG00000132155	RAF1	17603483	611554	LEOPARD syndrome 2	17603483
ENSG00000104812	GYS1	17928598	611556	Glycogen storage disease 0, muscle	17928598
ENSG00000106692	FKTN	17044012	611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4	17044012
ENSG00000004939	SLC4A1	9854053	611590	Renal tubular acidosis, distal, AR	9854053
ENSG00000170819	BFSP2	10739768	611597	Cataract 12, multiple types	10634598
ENSG00000170819	BFSP2	10729115	611597	Cataract 12, multiple types	10634598
ENSG00000167552	TUBA1A	17584854	611603	Lissencephaly 3 	17218254
ENSG00000167552	TUBA1A	17218254	611603	Lissencephaly 3 	17218254
ENSG00000106692	FKTN	17036286	611615	Cardiomyopathy, dilated, 1X	17036286
ENSG00000155657	TTN	17444505	611705	Myopathy, early-onset, with fatal cardiomyopathy	17444505
ENSG00000175110	MRPS22	17873122	611719	Combined oxidative phosphorylation deficiency 5	17873122
ENSG00000197746	PSAP	15773042	611722	Krabbe disease, atypical	15773042
ENSG00000243335	KCTD7	17455289	611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions	17455289
ENSG00000142405	NLRP12	18230725	611762	Familial cold autoinflammatory syndrome 2	18230725
ENSG00000130203	APOE	9176854	611771	Lipoprotein glomerulopathy	9176854
ENSG00000116016	EPAS1	18184961	611783	Erythrocytosis, familial, 4	18184961
ENSG00000167995	BEST1	18179881	611809	Bestrophinopathy, autosomal recessive	18179881
ENSG00000177098	SCN4B	17592081	611819	Long QT syndrome-10	17592081
ENSG00000140416	TPM1	11273725	611878	Cardiomyopathy, dilated, 1Y	11273725
ENSG00000140416	TPM1	11273725	611878	Left ventricular noncompaction 9	11273725
ENSG00000114854	TNNC1	15542288	611879	Cardiomyopathy, dilated, 1Z	15542288
ENSG00000118729	CASQ2	11704930	611938	Ventricular tachycardia, catecholaminergic polymorphic, 2	11401939
ENSG00000101439	CST3	11815350	611953	Macular degeneration, age-related, 11	11815350
ENSG00000172115	CYCS	18345000	612004	Thrombocytopenia 4 	18345000
ENSG00000032444	PNPLA6	18313024	612020	Spastic paraplegia 39, autosomal recessive	18313024
ENSG00000180228	PRKRA	18243799	612067	Dystonia 16	18420150
ENSG00000136143	SUCLA2	15877282	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	15877282
ENSG00000048392	RRM2B	17486094	612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)	17486094
ENSG00000048392	RRM2B	17486094	612075	Mitochondrial DNA depletion syndrome 8B (MNGIE type)	17486094
ENSG00000106344	RBM28	18439547	612079	Alopecia, neurologic defects, and endocrinopathy syndrome	18439547
ENSG00000007062	PROM1	10587575	612095	Retinitis pigmentosa 41 	10587575
ENSG00000100906	NFKBIA	14523047	612132	Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency	14523047
ENSG00000077522	ACTN2	14567970	612158	Cardiomyopathy, dilated, 1AA, with or without LVNC	14567970
ENSG00000106331	PAX4	17426099	612225	Maturity-onset diabetes of the young, type IX	17426099
ENSG00000144381	HSPD1	18571143	612233	Leukodystrophy, hypomyelinating, 4	18571143
ENSG00000128604	IRF5	17881657	612245	Inflammatory bowel disease 14	17881657
ENSG00000172936	MYD88	18669862	612260	Pyogenic bacterial infections, recurrent, due to MYD88 deficiency	18669862
ENSG00000109062	SLC9A3R1	18784102	612287	Nephrolithiasis/osteoporosis, hypophosphatemic, 2	18784102
ENSG00000105996	HOXA2	18394579	612290	Microtia, hearing impairment, and cleft palate (AR)	18394579
ENSG00000169427	KCNK9	18678320	612292	Birk-Barel mental retardation dysmorphism syndrome	18678320
ENSG00000183733	FIGLA	18499083	612310	Premature ovarian failure 6	18499083
ENSG00000103089	FA2H	19068277	612319	Spastic paraplegia 35, autosomal recessive	18463364
ENSG00000180509	KCNE1	9341873	612347	Jervell and Lange-Nielsen syndrome 2	9341873
ENSG00000165915	SLC39A13	18513683	612350	Spondylocheirodysplasia, Ehlers-Danlos syndrome-like	18513683
ENSG00000106397	PLOD3	18834968	612394	Lysyl hydroxylase 3 deficiency	18834968
ENSG00000125965	GDF5	17384641	612400	Osteoarthritis-5	17384641
ENSG00000165506	DNAAF2	19052621	612518	Ciliary dyskinesia, primary, 10	19052621
ENSG00000135100	HNF1A	9313763	612520	Diabetes mellitus, insulin-dependent, 20	9313763
ENSG00000169359	SLC33A1	19061983	612539	Spastic paraplegia 42, autosomal dominant	19061983
ENSG00000141349	G6PC3	19118303	612541	Dursun syndrome 	19118303
ENSG00000141349	G6PC3	19118303	612541	Neutropenia, severe congenital 4, autosomal recessive	19118303
ENSG00000101365	IDH3B	18806796	612572	Retinitis pigmentosa 46 	18806796
ENSG00000112367	FIG4	19118816	612577	Amyotrophic lateral sclerosis 11	19118816
ENSG00000129910	CDH15	19012874	612580	Mental retardation, autosomal dominant 3 	19012874
ENSG00000149571	KIRREL3	19012874	612581	Mental retardation autosomal dominant 4 	19012874
ENSG00000197283	SYNGAP1	19196676	612621	Mental retardation, autosomal dominant 5	19196676
ENSG00000121742	GJB6	10471490	612643	Deafness, autosomal dominant 3B	10471490
ENSG00000188910	GJB3	9843210	612644	Deafness, autosomal dominant 2B	9843210
ENSG00000121742	GJB6	11807148	612645	Deafness, autosomal recessive 1B	11807148
ENSG00000111834	RSPH4A	19200523	612649	Ciliary dyskinesia, primary, 11	19200523
ENSG00000112144	ICK	19185282	612651	Endocrine-cerebroosteodysplasia	19185282
ENSG00000079215	SLC1A3	16116111	612656	Episodic ataxia, type 6	16116111
ENSG00000007062	PROM1	18654668	612657	Cone-rod dystrophy 12	18654668
ENSG00000007312	CD79B	17675462	612692	Agammaglobulinemia 6 	17675462
ENSG00000123473	STIL	19215732	612703	Microcephaly 7, primary, autosomal recessive	19215732
ENSG00000131055	COX4I2	19268275	612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis	19268275
ENSG00000159251	ACTC1	17947298	612794	Atrial septal defect 5	17947298
ENSG00000198682	PAPSS2	9771708	612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes	9714015
ENSG00000046604	DSG2	18678517	612877	Cardiomyopathy, dilated, 1BB	18678517
ENSG00000107104	KANK1	16301218	612900	Cerebral palsy, spastic quadriplegic, 2	16301218
ENSG00000096696	DSP	9887343	612908	Keratosis palmoplantaris striata II	9887343
ENSG00000124006	OBSL1	19481195	612921	3-M syndrome 2	19481195
ENSG00000108515	ENO3	11506403	612932	Glycogen storage disease XIII	11506403
ENSG00000221838	AP4M1	19559397	612936	Spastic paraplegia 50, autosomal recessive	19559397
ENSG00000179085	DPM3	19576565	612937	Congenital disorder of glycosylation, type Io	19576565
ENSG00000140718	FTO	19559399	612938	Growth retardation, developmental delay, facial dysmorphism	19559399
ENSG00000102678	FGF9	19589401	612961	Multiple synostoses syndrome 3	19589401
ENSG00000171202	TMEM126A	19327736	612989	Optic atrophy 7 	19327736
ENSG00000113263	ITK	19425169	613011	Lymphoproliferative syndrome 1	19425169
ENSG00000110195	FOLR1	19732866	613068	Neurodegeneration due to cerebral folate transport deficiency	19732866
ENSG00000166828	SCNN1G	18507830	613071	Bronchiectasis with or without elevated sweat chloride 3	18507830
ENSG00000127554	GFER	19409522	613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay	19409522
ENSG00000048392	RRM2B	19664747	613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	19664747
ENSG00000167210	LOXHD1	19732867	613079	Deafness, autosomal recessive 77	19732867
ENSG00000095464	PDE6C	19615668	613093	Cone dystrophy 4 	19615668
ENSG00000156466	GDF6	19129173	613094	Microphthalmia, isolated 4	19129173
ENSG00000076944	STXBP2	19804848	613101	Hemophagocytic lymphohistiocytosis, familial, 5	19804848
ENSG00000134762	DSC3	19765682	613102	Hypotrichosis and recurrent skin vesicles	19765682
ENSG00000172243	CLEC7A	19864674	613108	Candidiasis, familial, 4, autosomal recessive	19864674
ENSG00000101162	TUBB1	15956286	613112	Macrothrombocytopenia, autosomal dominant, TUBB1-related	15956286
ENSG00000154153	RETREG1	19838196	613115	Neuropathy, hereditary sensory and autonomic, type IIB	19838196
ENSG00000142319	SLC6A3	19478460	613135	Parkinsonism-dystonia, infantile	19478460
ENSG00000085998	POMGNT1	19067344	613151	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3	19067344
ENSG00000009830	POMT2	17634419	613156	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2	17634419
ENSG00000009830	POMT2	17878207	613158	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2	17923109
ENSG00000203867	RBM20	19712804	613172	Cardiomyopathy, dilated, 1DD	19712804
ENSG00000167995	BEST1	19853238	613194	Retinitis pigmentosa, concentric	19853238
ENSG00000167995	BEST1	19853238	613194	Retinitis pigmentosa-50	19853238
ENSG00000160789	LMNA	15148145	613205	Muscular dystrophy, congenital	15148145
ENSG00000198835	GJC2	19056803	613206	Spastic paraplegia 44, autosomal recessive	19056803
ENSG00000166415	WDR72	19853237	613211	Amelogenesis imperfecta, type IIA3	19853237
ENSG00000197616	MYH6	15998695	613252	Cardiomyopathy, dilated, 1EE	15998695
ENSG00000129991	TNNI3	19590045	613286	Cardiomyopathy, dilated, 1FF	19590045
ENSG00000254647	INS	18162506	613370	Maturity-onset diabetes of the young, type 10	18162506
ENSG00000159251	ACTC1	9563954	613424	Cardiomyopathy, dilated, 1R	9563954
ENSG00000092054	MYH7	11106718	613426	Cardiomyopathy, dilated, 1S	11106718
ENSG00000092054	MYH7	11106718	613426	Left ventricular noncompaction 5 	11106718
ENSG00000176165	FOXG1	18571142	613454	Rett syndrome, congenital variant	18571142
ENSG00000177455	CD19	16672701	613493	Immunodeficiency, common variable, 3	16672701
ENSG00000159958	TNFRSF13C	19666484	613494	Immunodeficiency, common variable, 4	19666484
ENSG00000128322	IGLL1	9419212	613500	Agammaglobulinemia 2 	9419212
ENSG00000105369	CD79A	10525050	613501	Agammaglobulinemia 3	10525050
ENSG00000095585	BLNK	10583958	613502	Agammaglobulinemia 4 	10583958
ENSG00000136802	LRRC8A	14660746	613506	Agammaglobulinemia 5	14660746
ENSG00000164597	COG5	19690088	613612	Congenital disorder of glycosylation, type Iii	19690088
ENSG00000179111	HES7	18775957	613686	Spondylocostal dysostosis 4, autosomal recessive	18775957
ENSG00000159197	KCNE2	10219239	613693	Long QT syndrome 6 	10219239
ENSG00000080815	PSEN1	17186461	613694	Cardiomyopathy, dilated, 1U	17186461
ENSG00000156466	GDF6	19864492	613703	Microphthalmia with coloboma 6, digenic	19864492
ENSG00000184344	GDF3	19864492	613703	Microphthalmia with coloboma 6	19864492
ENSG00000184344	GDF3	19864492	613704	Microphthalmia, isolated 7	19864492
ENSG00000116030	SUMO1	16990542	613705	Orofacial cleft 10	16990542
ENSG00000125454	SLC25A19	19798730	613710	Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)	19798730
ENSG00000075043	KCNQ2	12742592	613720	Epileptic encephalopathy, early infantile, 7 	12742592
ENSG00000136531	SCN2A	15028761	613721	Epileptic encephalopathy, early infantile, 11	15028761
ENSG00000116171	SCP2	16685654	613724	Leukoencephalopathy with dystonia and motor neuropathy	16685654
ENSG00000140459	CYP11A1	11502818	613743	Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete	11502818
ENSG00000129535	NRL	10192380	613750	Retinitis pigmentosa 	10192380
ENSG00000114739	ACVR2B	9916847	613751	Heterotaxy, visceral, 4, autosomal	9916847
ENSG00000198515	CNGA1	7479749	613756	Retinitis pigmentosa 49	7479749
ENSG00000173976	RAX2	15028672	613757	Macular degeneration, age-related, 6	15028672
ENSG00000130561	SAG	9565049	613758	Retinitis pigmentosa 47	9565049
ENSG00000109846	CRYAB	11577372	613763	Cataract 	11577372
ENSG00000155657	TTN	10462489	613765	Cardiomyopathy, familial hypertrophic, 9	10462489
ENSG00000070729	CNGB1	11379879	613767	Retinitis pigmentosa 45 	11379879
ENSG00000148604	RGR	10581022	613769	Retinitis pigmentosa 44	10581022
ENSG00000182326	C1S	9856483	613783	C1s deficiency 	9856483
ENSG00000168329	CX3CR1	15208270	613784	Macular degeneration, age-related, 12	15208270
ENSG00000009724	MASP2	12904520	613791	MASP2 deficiency 	12904520
ENSG00000116745	RPE65	9326941	613794	Retinitis pigmentosa 	9326941
ENSG00000115415	STAT1	12590259	613796	Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive	12590259
ENSG00000133256	PDE6B	8394174	613801	Retinitis pigmentosa-40	8394174
ENSG00000132915	PDE6A	7493036	613810	Retinitis pigmentosa 43 	7493036
ENSG00000172817	CYP7B1	9802883	613812	Bile acid synthesis defect, congenital, 3	9802883
ENSG00000160602	NEK8	18199800	613824	Nephronophthisis 9	18199800
ENSG00000156413	FUT6	8175676	613852	Fucosyltransferase 6 deficiency	8175676
ENSG00000130283	GDF1	17924340	613854	Transposition of great arteries, dextro-looped 3	17924340
ENSG00000182389	CACNB4	10762541	613855	Episodic ataxia, type 5	10762541
ENSG00000134183	GNAT2	12077706	613856	Achromatopsia 4	12077706
ENSG00000142748	FCN3	19535802	613860	Immunodeficiency due to ficolin 3 deficiency	19535802
ENSG00000153208	MERTK	11062461	613862	Retinitis pigmentosa 38	11062461
ENSG00000170615	SLC26A5	12719379	613865	Deafness, autosomal recessive 61	12719379
ENSG00000278540	ACACA	6114432	613933	Acetyl-CoA carboxylase deficiency	6114432
ENSG00000165588	OTX2	18728160	613986	Pituitary hormone deficiency, combined, 6	18728160
ENSG00000145912	NHP2	18523010	613987	Dyskeratosis congenita, autosomal recessive 2	18523010
ENSG00000164362	TERT	16247010	613989	Dyskeratosis congenita, autosomal dominant 2	16247010
ENSG00000164362	TERT	16247010	613989	Dyskeratosis congenita, autosomal recessive 4	16247010
ENSG00000092330	TINF2	18252230	613990	Dyskeratosis congenita, autosomal dominant 3	18252230
ENSG00000110245	APOC3	2022742	614028	Apolipoprotein C-III deficiency	2022742
ENSG00000063854	HAGH	5485124	614033	Glyoxalase II deficiency	5485124
ENSG00000159261	CLDN14	11163249	614035	Deafness, autosomal recessive 29	11163249
ENSG00000175899	A2M	94459	614036	Alpha-2-macroglobulin deficiency 	94459
ENSG00000213316	LTC4S	9820300	614037	Leukotriene C4 synthase deficiency	9820300
ENSG00000107796	ACTA2	19409525	614042	Moyamoya disease 5	19409525
ENSG00000175606	TMEM70	18953340	614052	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2	18953340
ENSG00000120437	ACAT2	20597	614055	ACAT2 deficiency	20597
ENSG00000197616	MYH6	15735645	614089	Atrial septal defect 3	15735645
ENSG00000115414	FN1	2869211	614101	Plasma fibronectin deficiency	2869211
ENSG00000168291	PDHB	15138885	614111	Pyruvate dehydrogenase E1-beta deficiency	15138885
ENSG00000112280	COL9A1	11565064	614135	Epiphyseal dysplasia, multiple, 6	11565064
ENSG00000106605	BLVRA	19580635	614156	Hyperbiliverdinemia	19580635
ENSG00000059377	TBXAS1	6101498	614158	Thromboxane synthase deficiency	6101498
ENSG00000138379	MSTN	15215484	614160	Muscle hypertrophy 	15215484
ENSG00000113231	PDE8B	18272904	614190	Pigmented nodular adrenocortical disease, primary, 3	18272904
ENSG00000181481	RNF135	17632510	614192	Macrocephaly, macrosomia, facial dysmorphism syndrome	17632510
ENSG00000100987	VSX1	15051220	614195	?Craniofacial anomalies and anterior segment dysgenesis syndrome	15051220
ENSG00000007314	SCN4A	12766226	614198	Myasthenic syndrome congenital 	12766226
ENSG00000088053	GP6	19549989	614201	Bleeding disorder, platelet-type, 11	19549989
ENSG00000242110	AMACR	10655068	614307	Alpha-methylacyl-CoA racemase deficiency	10655068
ENSG00000182533	CAV3	11805270	614321	Myopathy, distal, Tateyama type	11805270
ENSG00000111046	MYF6	11053684	614408	Myopathy, centronuclear, 3	11053684
ENSG00000136574	GATA4	18672102	614429	Ventricular septal defect 1 	18672102
ENSG00000164442	CITED2	16287139	614431	Ventricular septal defect 2 	16287139
ENSG00000164442	CITED2	16287139	614433	Atrial septal defect 8	16287139
ENSG00000140092	FBLN5	12618961	614434	Cutis laxa, autosomal dominant 2	12618961
ENSG00000178726	THBD	7811989	614486	Thrombophilia due to thrombomodulin defect	7811989
ENSG00000165970	SLC6A5	16751771	614618	Hyperekplexia 3 	16751771
ENSG00000109738	GLRB	11929858	614619	Hyperekplexia 2, autosomal recessive	11929858
ENSG00000049167	ERCC8	19329487	614621	UV-sensitive syndrome 2	19329487
ENSG00000148459	PDSS1	17332895	614651	Coenzyme Q10 deficiency, primary, 2	17332895
ENSG00000164494	PDSS2	17186472	614652	Coenzyme Q10 deficiency, primary, 3	17186472
ENSG00000083937	CHMP2B	16807408	614696	Amyotrophic lateral sclerosis 17	16807408
ENSG00000270141	TERC	9572992	614743	Aplastic anemia	9572992
ENSG00000116014	KISS1R	14573733	614837	Hypogonadotropic hypogonadism 8 with or without anosmia	12788881
ENSG00000165802	NSMF	15362570	614838	Hypogonadotropic hypogonadism 9 with or without anosmia	15362570
ENSG00000113302	IL12B	9854038	614890	Immunodeficiency 29, mycobacteriosis	9854038
ENSG00000096996	IL12RB1	9603733	614891	Immunodeficiency 	9603732
ENSG00000096996	IL12RB1	9603732	614891	Immunodeficiency 	9603732
ENSG00000115415	STAT1	11452125	614892	Immunodeficiency 31A, mycobacteriosis, autosomal dominant	11452125
ENSG00000079739	PGM1	19625727	614921	Congenital disorder of glycosylation, type It	19625727
ENSG00000186197	EDARADD	17354266	614940	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	17354266
ENSG00000174697	LEP	9202122	614962	Obesity, morbid, due to leptin deficiency	9202122
ENSG00000116678	LEPR	9537324	614963	Obesity, morbid, due to leptin receptor deficiency	9537324
ENSG00000005471	ABCB4	9419367	614972	Cholestasis, intrahepatic, of pregnancy, 3	9419367
ENSG00000138207	RBP4	9888420	615147	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome	9888420
ENSG00000156467	UQCRB	12709789	615158	Mitochondrial complex III deficiency, nuclear type 3	12709789
ENSG00000164405	UQCRQ	18439546	615159	Mitochondrial complex III deficiency, nuclear type 4	18439546
ENSG00000109846	CRYAB	16483541	615184	Cardiomyopathy, dilated, 1II	16483541
ENSG00000112769	LAMA4	17646580	615235	Cardiomyopathy, dilated, 1JJ	17646580
ENSG00000105370	LIM2	11917274	615277	Cataract 19, multiple types	11917274
ENSG00000169032	MAP2K1	16439621	615279	Cardiofaciocutaneous syndrome 3 	16439621
ENSG00000125965	GDF5	16127465	615298	Symphalangism, proximal, 1B	16127465
ENSG00000120693	SMAD9	19211612	615342	Pulmonary hypertension, primary, 2	19211612
ENSG00000091831	ESR1	8090165	615363	Estrogen resistance 	8090165
ENSG00000134571	MYBPC3	12379228	615396	Cardiomyopathy, dilated, 1MM	12379228
ENSG00000171723	GPHN	11095995	615501	Molybdenum cofactor deficiency C	11095995
ENSG00000167996	FTH1	11389486	615517	Hemochromatosis, type 5	11389486
ENSG00000113494	PRLR	18779591	615554	Multiple fibroadenomas of the breast	18779591
ENSG00000087086	FTL	15173247	615604	L-ferritin deficiency, dominant and recessive	15173247
ENSG00000167286	CD3D	14602880	615617	Immunodeficiency 19 	14602880
ENSG00000203747	FCGR3A	8608639	615707	Immunodeficiency 20	8608639
ENSG00000170465	KRT6C	19609311	615735	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse	19609311
ENSG00000182866	LCK	9664084	615758	Immunodeficiency 22	9664084
ENSG00000171401	KRT13	7493031	615785	White sponge nevus 2	7493031
ENSG00000096696	DSP	16628197	615821	Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis	16628197
ENSG00000121853	GHSR	16511605	615925	Growth hormone deficiency, isolated partial	16511605
ENSG00000277494	GPIHBP1	17883852	615947	Hyperlipoproteinemia, type 1D	17883852
ENSG00000167748	KLK1	11912256	615953	Kallikrein, decreased urinary activity of	11912256
ENSG00000099769	IGFALS	14762184	615961	Acid-labile subunit, deficiency of	14762184
ENSG00000170175	CHRNB1	8872460	616313	Myasthenic syndrome, congenital, 2A, slow-channel	8872460
ENSG00000170175	CHRNB1	10562302	616314	Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency	10562302
ENSG00000135902	CHRND	11782989	616321	Myasthenic syndrome, congenital, 3A, slow-channel	11782989
ENSG00000135902	CHRND	11435464	616322	Myasthenic syndrome, congenital, 3B, fast-channel	11435464
ENSG00000135902	CHRND	16916845	616323	Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency	16916845
ENSG00000030304	MUSK	15496425	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	15496425
ENSG00000187486	KCNJ11	15784703	616329	Maturity-onset diabetes of the young, type 13	15784703
ENSG00000163161	ERCC3	9012405	616390	Trichothiodystrophy 2, photosensitive	9012405
ENSG00000138061	CYP1B1	11403040	617315	Anterior segment dysgenesis 6, multiple subtypes	11403040
ENSG00000105711	SCN1B	19710327	617350	Epileptic encephalopathy, early infantile, 52	19710327
ENSG00000105429	MEGF8	23063620	614976	Carpenter syndrome 2	Altunhan, H., Annagur, A., Ors, R. The association of Carpenter syndrome and situs inversus totalis: first case report. Turk. Klin. J. Med. Sci. 31: 464-467, 2011.
ENSG00000048545	GUCA1A	9425234	602093	Cone dystrophy-3 	Payne, A. M., Downes, S. M., Bessant, D. A. R., Taylor, R., Fitzke, F. W., Holder, G., Bird, A. C., Bhattacharya, S. New locus for autosomal dominant cone dystrophy mapping to 6p21.1. (Abstract) Am. J. Hum. Genet. 61 (suppl.): A290 only, 1997.
ENSG00000048545	GUCA1A	9425234	602093	Cone-rod dystrophy 14 	Payne, A. M., Downes, S. M., Bessant, D. A. R., Taylor, R., Fitzke, F. W., Holder, G., Bird, A. C., Bhattacharya, S. New locus for autosomal dominant cone dystrophy mapping to 6p21.1. (Abstract) Am. J. Hum. Genet. 61 (suppl.): A290 only, 1997.
ENSG00000186832	KRT16	8595410	613000	Palmoplantar keratoderma, nonepidermolytic, focal	Stevens, H. P., Kelsell, D. P., Spurr, N. K., Bishop, D. T., Purkis, P. E., Griffiths, W. A. D., Rustin, M. H. A., Leigh, I. M. Keratin staining and linkage of non-epidermolytic focal palmoplantar keratodermas (PPK) to 17q. (Abstract) Brit. J. Derm. 131: 425 only, 1994.
ENSG00000131100	ATP6V1E1	28065471	617402	Cutis laxa, autosomal recessive, type IIC	28065471
ENSG00000156983	BRPF1	27939639	617333	Intellectual developmental disorder with dysmorphic facies and ptosis	27939639
ENSG00000101935	AMMECR1	27811305	300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	27811305
ENSG00000182492	BGN	27632686	300989	Meester-Loeys syndrome	27632686
ENSG00000034693	PEX3	27557811	617370	Peroxisome biogenesis disorder 10B	27557811
ENSG00000139719	VPS33A	27547915	617303	Mucopolysaccharidosis-plus syndrome	27547915
ENSG00000138411	HECW2	27389779	617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language	27334371
ENSG00000198336	MYL4	27066836	617280	Atrial fibrillation, familial, 18	25807286
ENSG00000134313	KIDINS220	27005418	617296	Spastic paraplegia, intellectual disability, nystagmus, and obesity	26083449
ENSG00000144406	UNC80	26708751	616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	26708751
ENSG00000196876	SCN8A	26677014	617080	Seizures, benign familial infantile, 5	26677014
ENSG00000172500	FIBP	26660953	617107	Thauvin-Robinet-Faivre syndrome	26660953
ENSG00000198920	KIAA0753	26643951	617127	Orofaciodigital syndrome XV	26643951
ENSG00000112276	BVES	26642364	616812	Muscular dystrophy, limb-girdle, type 2X	26642364
ENSG00000118503	TNFAIP3	26642243	616744	Autoinflammatory syndrome, familial, Behcet-like	26642243
ENSG00000100348	TXN2	26626369	616811	Combined oxidative phosphorylation deficiency 29	26626369
ENSG00000090924	PLEKHG2	26573021	616763	Leukodystrophy and acquired microcephaly with or without dystonia	26573021
ENSG00000198836	OPA1	26561570	616896	Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)	26561570
ENSG00000145982	FARS2	26553276	617046	?Spastic paraplegia 77, autosomal recessive	25851414
ENSG00000149196	HIKESHI	26545878	616881	Leukodystrophy, hypomyelinating, 13	26545878
ENSG00000103148	NPRL3	26505888	617118	Epilepsy, familial focal, with variable foci 3	26505888
ENSG00000114388	NPRL2	26505888	617116	Epilepsy, familial focal, with variable foci 2	26505888
ENSG00000072756	TRNT1	26494905	616959	Retinitis pigmentosa and erythrocytic microcytosis 	26494905
ENSG00000151806	GUF1	26486472	617065	Epileptic encephalopathy, early infantile, 40	26486472
ENSG00000133731	IMPA1	26416544	617323	Mental retardation, autosomal recessive 59	26416544
ENSG00000128917	DLL4	26299364	616589	Adams-Oliver syndrome 6 	25132448
ENSG00000168658	VWA3B	26157035	616948	Spinocerebellar ataxia, autosomal recessive 22	26157035
ENSG00000168389	MFSD2A	26005868	616486	Microcephaly 15, primary, autosomal recessive	24828044
ENSG00000068654	POLR1A	25913037	616462	Acrofacial dysostosis, Cincinnati type	25434003
ENSG00000134905	CARS2	25787132	616672	Combined oxidative phosphorylation deficiency 27	25361775
ENSG00000106290	TAF6	25558065	617126	Alazami-Yuan syndrome	25558065
ENSG00000108963	DPH1	25558065	616901	Developmental delay with short stature, dysmorphic features, and sparse hair	25558065
ENSG00000145348	TBCK	25558065	616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	25558065
ENSG00000173409	ARV1	25558065	617020	Epileptic encephalopathy, early infantile, 38	25558065
ENSG00000198860	TSEN15	25558065	617026	Pontocerebellar hypoplasia, type 2F	25558065
ENSG00000148204	CRB2	25557779	616220	Focal segmental glomerulosclerosis 9 	25557779
ENSG00000165898	ISCA2	25539947	616370	Multiple mitochondrial dysfunctions syndrome 4	25539947
ENSG00000105568	PPP2R1A	25533962	616362	Mental retardation, autosomal dominant 36	25533962
ENSG00000112640	PPP2R5D	25533962	616355	Mental retardation, autosomal dominant 35	25533962
ENSG00000113163	COL4A3BP	25533962	616351	Mental retardation, autosomal dominant 34	25533962
ENSG00000188517	COL25A1	25500261	616219	Fibrosis of extraocular muscles, congenital, 5	25500261
ENSG00000129159	KCNC1	25401298	616187	Epilepsy, progressive myoclonic 7	25401298
ENSG00000151474	FRMD4A	25388005	616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	25388005
ENSG00000168944	CEP120	25361962	616300	Short-rib thoracic dysplasia 13 with or without polydactyly	25361962
ENSG00000203877	RIPPLY2	25343988	616566	Spondylocostal dysostosis 6	25343988
ENSG00000164073	MFSD8	25227500	616170	Macular dystrophy with central cone involvement	25227500
ENSG00000072756	TRNT1	25193871	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	23553769
ENSG00000138002	IFT172	25168386	616394	Retinitis pigmentosa 71	25168386
ENSG00000130703	OSBPL2	25077649	616340	Deafness, autosomal dominant 67	25077649
ENSG00000135775	COG2	24784932	617395	Congenital disorder of glycosylation, type IIq	24784932
ENSG00000172409	CLP1	24766810	615803	Pontocerebellar hypoplasia, type 10	23474986
ENSG00000172409	CLP1	24766809	615803	Pontocerebellar hypoplasia, type 10	23474986
ENSG00000101210	EEF1A2	24697219	616393	Mental retardation, autosomal dominant 38	24697219
ENSG00000138078	PREPL	24610330	616224	Myasthenic syndrome, congenital, 22	23794250
ENSG00000166402	TUB	24375934	616188	Retinal dystrophy and obesity	24375934
ENSG00000104218	CSPP1	24360808	615636	Joubert syndrome 21	24360808
ENSG00000107745	MICU1	24336167	615673	Myopathy with extrapyramidal signs	24336167
ENSG00000108797	CNTNAP1	24319099	616286	Lethal congenital contracture syndrome 7	24319099
ENSG00000174233	ADCY6	24319099	616287	Lethal congenital contracture syndrome 8	24319099
ENSG00000134569	LRP4	24234652	616304	Myasthenic syndrome, congenital, 17	24234652
ENSG00000180879	SSR4	24218363	300934	Congenital disorder of glycosylation, type Iy	24218363
ENSG00000168267	PTF1A	24212882	615935	Pancreatic agenesis 2	24212882
ENSG00000080561	MID2	24115387	300928	Mental retardation, X-linked 101	24115387
ENSG00000196159	FAT4	24056717	615546	Van Maldergem syndrome 2 	22473091
ENSG00000136156	ITM2B	24026677	616079	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities	24026677
ENSG00000126870	WDR60	23910462	615503	Short-rib thoracic dysplasia 8 with or without polydactyly	22791528
ENSG00000140873	ADAMTS18	23818446	615458	Microcornea, myopic chorioretinal atrophy, and telecanthus	22686506
ENSG00000197565	COL4A6	23714752	300914	Deafness, X-linked 6	23714752
ENSG00000153187	HNRNPU	23708187	617391	Epileptic encephalopathy, early infantile, 54	22581936
ENSG00000101346	POFUT1	23684010	615327	Dowling-Degos disease 2 	23018017
ENSG00000168280	KIF5C	23603762	615282	Cortical dysplasia, complex, with other brain malformations 2	23033978
ENSG00000153933	DGKE	23274426	615008	Nephrotic syndrome, type 7	23274426
ENSG00000171551	ECEL1	23261301	615065	Arthrogryposis, distal, type 5D	23261301
ENSG00000183423	LRIT3	23246293	615058	Night blindness, congenital stationary (complete), 1F, autosomal recessive	23246293
ENSG00000121879	PIK3CA	23246288	615108	Cowden syndrome 5	23246288
ENSG00000142208	AKT1	23246288	615109	Cowden syndrome 6	23246288
ENSG00000184302	SIX6	23167593	212550	Optic disc anomalies with retinal and/or macular dystrophy	23167593
ENSG00000079805	DNM2	23092955	615368	Lethal congenital contracture syndrome 5 	23092955
ENSG00000186487	MYT1L	23033978	616521	Mental retardation, autosomal dominant 39	21990140
ENSG00000167791	CABP2	22981119	614899	Deafness, autosomal recessive 93	21542834
ENSG00000174720	LARP7	22865833	615071	Alazami syndrome 	21937992
ENSG00000250479	CHCHD10	22535186	615048	Spinal muscular atrophy, Jokela type	21715705
ENSG00000051180	RAD51	22305526	614508	Mirror movements 2	21242494
ENSG00000134871	COL4A2	22209246	614483	Porencephaly 2 	22209246
ENSG00000139193	CD27	22197273	615122	Lymphoproliferative syndrome 2	22197273
ENSG00000109103	UNC119	22184408	615518	Cone-rod dystrophy (3)?Immunodeficiency 13	22184408
ENSG00000148704	VAX1	22095910	614402	Microphthalmia, syndromic 11	22095910
ENSG00000141506	PIK3R5	22065524	615217	Ataxia-oculomotor apraxia 3 	22065524
ENSG00000117322	CR2	22035880	614699	Immunodeficiency, common variable, 7	22035880
ENSG00000157796	WDR19	22019273	614376	Short-rib thoracic dysplasia 5 with or without polydactyly	19430947
ENSG00000166548	TK2	21937588	617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	21937588
ENSG00000177239	MAN1B1	21763484	614202	Mental retardation, autosomal recessive 15	20345473
ENSG00000165478	HEPACAM	21419380	613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A	20517947
ENSG00000165478	HEPACAM	21419380	613926	Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation	20517947
ENSG00000122026	RPL21	21412954	615885	Hypotrichosis 12	19751230
ENSG00000119650	IFT43	21378380	614099	Cranioectodermal dysplasia 3	20493458
ENSG00000198513	ATL1	21194679	613708	Neuropathy, hereditary sensory, type ID	21194679
ENSG00000186184	POLR1D	21131976	613717	Treacher Collins syndrome 2	21131976
ENSG00000141519	CCDC40	21131974	613808	Ciliary dyskinesia, primary, 15	21131974
ENSG00000081014	AP4E1	20972249	613744	Spastic paraplegia 51, autosomal recessive	20972249
ENSG00000118873	RAB3GAP2	20967465	614225	Warburg micro syndrome 2	20967465
ENSG00000182054	IDH2	20847235	613657	D-2-hydroxyglutaric aciduria 2	19228619
ENSG00000187288	CIDEC	20049731	615238	Lipodystrophy, familial partial, type 5	18654663
ENSG00000134982	APC	8102685	135290	Desmoid disease, hereditary	1544113
ENSG00000116701	NCF2	2770793	233710	Chronic granulomatous disease due to deficiency of NCF-2	2848318
ENSG00000124253	PCK1	179269	261680	Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency	1092127
ENSG00000140274	DUOXA2	18042646	274900	Thyroid dyshormonogenesis 5, 	18042646
ENSG00000079482	OPHN1	9582072	300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	9195162
ENSG00000269335	IKBKG	16950813	300640	Invasive pneumococcal disease, recurrent isolated, 2	16950813
ENSG00000008086	CDKL5	15499549	300672	Epileptic encephalopathy, early infantile, 2	12746405
ENSG00000008086	CDKL5	15492925	300672	Epileptic encephalopathy, early infantile, 2	12746405
ENSG00000101204	CHRNA4	7550350	600513	Epilepsy, nocturnal frontal lobe, 1	7906762
ENSG00000157184	CPT2	1528846	600649	CPT II deficiency, infantile	1999498
ENSG00000137474	MYO7A	9354784	601317	Deafness, autosomal dominant 11 	8776602
ENSG00000088035	ALG6	10359825	603147	Congenital disorder of glycosylation, type Ic	9710431
ENSG00000105711	SCN1B	9697698	604233	Epilepsy, generalized, with febrile seizures plus, type 1	9126059
ENSG00000106327	TFR2	10802645	604250	Hemochromatosis, type 3	10216143
ENSG00000144285	SCN1A	10742094	604403	Epilepsy, generalized, with febrile seizures plus, type 2	10486327
ENSG00000143252	SDHC	11062460	605373	Paragangliomas 3	10541590
ENSG00000181027	FKRP	11592034	606612	Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5	11053680
ENSG00000124713	GNMT	11810299	606664	Glycine N-methyltransferase deficiency	11596649
ENSG00000159363	ATP13A2	16964263	606693	Kufor-Rakeb syndrome	15986421
ENSG00000139549	DHH	11017805	607080	46XY partial gonadal dysgenesis, with minifascicular neuropathy	10483790
ENSG00000196569	LAMA2	7550355	607855	Muscular dystrophy, congenital merosin-deficient	8000914
ENSG00000196569	LAMA2	7550355	607855	Muscular dystrophy, congenital, due to partial LAMA2 deficiency	8000914
ENSG00000124198	ARFGEF2	14647276	608097	Periventricular heterotopia with microcephaly	12682315
ENSG00000108823	SGCA	8069911	608099	Muscular dystrophy, limb-girdle, type 2D	8281158
ENSG00000168685	IL7R	9843216	608971	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type	9068311
ENSG00000177542	SLC25A22	15592994	609304	Epileptic encephalopathy, early infantile, 3	15592994
ENSG00000102466	FGF14	12489043	609307	Spinocerebellar ataxia 	12123606
ENSG00000144285	SCN1A	16054936	609634	Migraine, familial hemiplegic, 3	15277634
ENSG00000204311	PJVK	17301963	610220	Deafness, autosomal recessive 59	16804542
ENSG00000197753	LHFPL5	16459341	610265	Deafness, autosomal recessive 67	15905332
ENSG00000187486	KCNJ11	15784703	610582	Diabetes mellitus, transient neonatal, 3	15115830
ENSG00000177666	PNPLA2	17187067	610717	Neutral lipid storage disease with myopathy 	17187067
ENSG00000131018	SYNE1	17159980	610743	Spinocerebellar ataxia, autosomal recessive 8	17159980
ENSG00000116586	LAMTOR2	17195838	610798	Immunodeficiency due to defect in MAPBP-interacting protein	17195838
ENSG00000198001	IRAK4	16950813	610799	Invasive pneumococcal disease, recurrent isolated, 1	16950813
ENSG00000171680	PLEKHG5	17564964	611067	Spinal muscular atrophy, distal, autosomal recessive, 4	16728649
ENSG00000152779	SLC16A12	18304496	612018	Cataract 47, juvenile, with microcornea	17458810
ENSG00000136854	STXBP1	18469812	612164	Epileptic encephalopathy, early infantile, 4	18065176
ENSG00000171316	CHD7	18834967	612370	Hypogonadotropic hypogonadism 5 with or without anosmia	17761590
ENSG00000107831	FGF8	18596921	612702	Hypogonadotropic hypogonadism 6 with or without anosmia	17761590
ENSG00000171766	GATM	11555793	612718	Cerebral creatine deficiency syndrome 3	10762163
ENSG00000157766	ACAN	19110214	612813	Spondyloepimetaphyseal dysplasia, aggrecan type	19110214
ENSG00000038295	TLL1	18830233	613087	Atrial septal defect 6 	18830233
ENSG00000085998	POMGNT1	18195152	613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3	17878207
ENSG00000135424	ITGA7	9590299	613204	Muscular dystrophy, congenital, due to ITGA7 deficiency	9354797
ENSG00000081189	MEF2C	19592390	613443	Chromosome 5q14.3 deletion syndrome 	19876902
ENSG00000081189	MEF2C	19592390	613443	Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations	19876902
ENSG00000052850	ALX4	19692347	613451	Frontonasal dysplasia 2 	18541970
ENSG00000140521	POLG	12825077	613662	Mitochondrial DNA depletion syndrome 4B (MNGIE type)	12297582
ENSG00000055118	KCNH2	7889573	613688	Long QT syndrome 2	7842012
ENSG00000163914	RHO	2137202	613731	Retinitis pigmentosa 4, autosomal dominant or recessive	2564733
ENSG00000112599	GUCA1B	15452722	613827	Retinitis pigmentosa 48	15452722
ENSG00000148053	NTRK2	15494731	613886	Obesity, hyperphagia, and developmental delay	12796784
ENSG00000164509	IL31RA	19690585	613955	Amyloidosis, primary localized cutaneous, 2	19663869
ENSG00000196876	SCN8A	16236810	614306	?Cognitive impairment with or without cerebellar ataxia	16236810
ENSG00000060237	WNK1	11498583	614492	Pseudohypoaldosteronism, type IIC	10869238
ENSG00000265203	RBP3	19074801	615233	Retinitis pigmentosa 66	19074801
ENSG00000138347	MYPN	18006477	615248	Cardiomyopathy, dilated, 1KK	18006477
ENSG00000102879	CORO1A	19097825	615401	Immunodeficiency 8	18836449
ENSG00000253729	PRKDC	19075392	615966	Immunodeficiency 26, with or without neurologic abnormalities	19075392
ENSG00000159899	NPR2	16384845	616255	Short stature with nonspecific skeletal abnormalities	16384845
ENSG00000103316	CRYM	12471561	616357	Deafness, autosomal dominant 40	12471561
ENSG00000134899	ERCC5	9096355	616570	Cerebrooculofacioskeletal syndrome 3 	8818951
ENSG00000198951	NAGA	2243144	609241	Schindler disease, type I	Schindler, D., Bishop, D. F., Wallace, S., Wolfe, D. E., Desnick, R. J. Characterization of alpha-N-acetylgalactosaminidase deficiency: a new neurodegenerative lysosomal disease. (Abstract) Pediat. Res. 23: 333A only, 1988.
ENSG00000078369	GNB1	27108799	616973	Mental retardation, autosomal dominant 42	25485910
ENSG00000124486	USP9X	26833328	300968	Mental retardation, X-linked 99, syndromic, female-restricted	24690944
ENSG00000180875	GREM2	26416033	617275	Tooth agenesis, selective, 9	23401279
ENSG00000152977	ZIC1	26340333	616602	Craniosynostosis 6	23438589
ENSG00000169169	CPT1C	25751282	616282	Spastic paraplegia 73, autosomal dominant	23973755
ENSG00000004487	KDM1A	24838796	616728	Cleft palate, psychomotor retardation, and distinctive facial features	23020937
ENSG00000118971	CCND2	24705253	615938	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	22228622
ENSG00000168137	SETD5	24680889	615761	Mental retardation, autosomal dominant 23	23020937
ENSG00000066923	STAG3	24597867	615723	Premature ovarian failure 8 	22428046
ENSG00000168275	COA6	24549041	616501	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4	22277967
ENSG00000161395	PGAP3	24439110	615716	Hyperphosphatasia with mental retardation syndrome 4	22315194
ENSG00000168356	SCN11A	24207120	615552	Episodic pain syndrome, familial, 3	21698661
ENSG00000100311	PDGFB	23913003	615483	Basal ganglia calcification, idiopathic, 5	21409505
ENSG00000100241	SBF1	23749797	615284	Charcot-Marie-Tooth disease, type 4B3	21210780
ENSG00000124155	PIGT	23636107	615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	21493957
ENSG00000148985	PGAP2	23561846	614207	Hyperphosphatasia with mental retardation syndrome 3	21643797
ENSG00000124356	STAMBP	23542699	614261	Microcephaly-capillary malformation syndrome	21271646
ENSG00000126091	ST3GAL3	23252400	615006	Epileptic encephalopathy, early infantile, 15	21907012
ENSG00000164818	DNAAF5	23040496	614874	Ciliary dyskinesia, primary, 18	20350728
ENSG00000167131	CCDC103	22581229	614679	Ciliary dyskinesia, primary, 17	19720631
ENSG00000157483	MYO1E	21756023	614131	Glomerulosclerosis, focal segmental, 6	19005011
ENSG00000174099	MSRB3	21185009	613718	Deafness, autosomal recessive 74	19650862
ENSG00000100997	ABHD12	20797687	612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	19005174
ENSG00000128039	SRD5A3	20637498	612379	Congenital disorder of glycosylation type Iq 	18271001
ENSG00000124172	ATP5E	20566710	614053	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3	18953340
ENSG00000197694	SPTAN1	20493457	613477	Epileptic encephalopathy, early infantile, 5	18469812
ENSG00000243646	IL10RB	19890111	612567	Inflammatory bowel disease 25, early onset, autosomal recessive	17554300
ENSG00000179477	ALOX12B	11773004	242100	Ichthyosis, congenital, autosomal recessive 2	10712205
ENSG00000068366	ACSL4	11889465	300387	Mental retardation, X-linked 63	10854107
ENSG00000077264	PAK3	9731525	300558	Mental retardation, X-linked 	8826460
ENSG00000169057	MECP2	10577905	300673	Encephalopathy, neonatal severe	9326329
ENSG00000175426	PCSK1	9207799	600955	Obesity with impaired prohormone processing 	7477119
ENSG00000100473	COCH	9806553	601369	Deafness, autosomal dominant 9	8817345
ENSG00000132518	GUCY2D	9618177	601777	Cone-rod dystrophy 6 	8554074
ENSG00000204248	COL11A2	10581026	601868	Deafness, autosomal dominant 13	9106521
ENSG00000121743	GJA3	10205266	601885	Cataract 14, multiple types	9199569
ENSG00000117400	MPL	16868251	601977	Thrombocythemia 2	15269348
ENSG00000005471	ABCB4	9419367	602347	Cholestasis, progressive familial intrahepatic 3	8666348
ENSG00000242866	STRC	11687802	603720	Deafness, autosomal recessive 16	10090914
ENSG00000157978	LDLRAP1	9409298	603813	Hypercholesterolemia, familial, autosomal recessive	7628519
ENSG00000003400	CASP10	10412980	603909	Autoimmune lymphoproliferative syndrome, type II	9028957
ENSG00000047457	CP	7820540	604290	Hypoceruloplasminemia, hereditary	1458725
ENSG00000164199	ADGRV1	12402266	604352	Febrile seizures, familial, 4	10587582
ENSG00000117400	MPL	10077649	604498	Thrombocytopenia, congenital amegakaryocytic	9029014
ENSG00000144381	HSPD1	11898127	605280	Spastic paraplegia 13, autosomal dominant	10677329
ENSG00000125414	MYH2	11114175	605637	Proximal myopathy and ophthalmoplegia	9708547
ENSG00000096696	DSP	11063735	605676	Cardiomyopathy, dilated, with woolly hair and keratoderma	9738775
ENSG00000004864	SLC25A13	11281457	605814	Citrullinemia type II neonatal-onset 	10369257
ENSG00000138449	SLC40A1	11431687	606069	Hemochromatosis, type 4	10471458
ENSG00000179148	ALOXE3	11773004	606545	Ichthyosis, congenital, autosomal recessive 3	10712205
ENSG00000148672	GLUD1	9571255	606762	Hyperinsulinism-hyperammonemia syndrome	8769351
ENSG00000163347	CLDN1	15521008	607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	12164927
ENSG00000203883	SOX18	12740761	607823	Hypotrichosis-lymphedema-telangiectasia syndrome	11701398
ENSG00000162676	GFI1	12778173	607847	Neutropenia, nonimmune chronic idiopathic, of adults	11807637
ENSG00000151849	CENPJ	15793586	608393	Microcephaly 6, primary, autosomal recessive	12843329
ENSG00000148516	ZEB1	16252232	609141	Corneal dystrophy, posterior polymorphous, 3	12654361
ENSG00000183765	CHEK2	11479205	609265	Li-Fraumeni syndrome	10617473
ENSG00000130714	POMT1	15792865	609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	14678799
ENSG00000106003	LFNG	16385447	609813	Spondylocostal dysostosis 3, autosomal recessive	15122512
ENSG00000197579	TOPORS	17924349	609923	Retinitis pigmentosa 31 	16189705
ENSG00000152939	MARVELD2	17186462	610153	Deafness, autosomal recessive 49	15538632
ENSG00000181090	EHMT1	16826528	610253	Kleefstra syndrome 	15258833
ENSG00000196431	CRYBA4	16960806	610425	Cataract 23 	15452067
ENSG00000104723	TUSC3	18452889	611093	Mental retardation, autosomal recessive 7	17120046
ENSG00000113327	GABRG2	11326274	611277	Epilepsy, generalized, with febrile seizures plus, type 3	9894880
ENSG00000113327	GABRG2	11326274	611277	Febrile seizures, familial, 8	9894880
ENSG00000184154	LRTOMT	18953341	611451	Deafness, autosomal recessive 63	17166180
ENSG00000187498	COL4A1	18160688	611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	15882279
ENSG00000163961	RNF168	19203578	611943	RIDDLE syndrome 	17940005
ENSG00000120948	TARDBP	18309045	612069	Amyotrophic lateral sclerosis 10, with or without FTD	17036243
ENSG00000085063	CD59	1382994	612300	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 	1699124
ENSG00000130005	GAMT	8651275	612736	Cerebral creatine deficiency syndrome 2	7808840
ENSG00000109132	PHOX2B	15024693	613013	Neuroblastoma with Hirschsprung disease	11747263
ENSG00000106692	FKTN	19299310	613152	Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4	17878207
ENSG00000157764	BRAF	19206169	613707	LEOPARD syndrome 3	18042262
ENSG00000254636	ARMS2	16174643	613778	Macular degeneration, age-related, 8	12900797
ENSG00000042781	USH2A	12427073	613809	Retinitis pigmentosa 39	10775529
ENSG00000100292	HMOX1	9884342	614034	Heme oxygenase-1 deficiency	9380736
ENSG00000166863	TAC3	19079066	614839	Hypogonadotropic hypogonadism 10 with or without anosmia	17761590
ENSG00000169836	TACR3	19079066	614840	Hypogonadotropic hypogonadism 11 with or without anosmia	17761590
ENSG00000161594	KLHL10	17047026	615081	Spermatogenic failure 11	15136734
ENSG00000182512	GLRX5	17485548	616860	Anemia, sideroblastic, 3, pyridoxine-refractory	16110529
ENSG00000006611	USH1C	10973247	602092	Deafness, autosomal recessive 18A	Jain, P. K., Lalwani, A. K., Li, X. C., McDuffie, T., Deshmukh, D., Verma, I. C., Wilcox, E. R. A gene for recessive nonsyndromic sensorineural hearing impairment (DFNB18) maps to the chromosomal region containing the Usher syndrome type 1C gene. (Abstract) Am. J. Hum. Genet. 61 (suppl.): A280 only, 1997.
ENSG00000068078	FGFR3	10053006	616482	SADDAN 	Francomano, C. A., Bellus, G. A., Szabo, J., McIntosh, I., Dorst, J., Lee, R., Hurko, O., Fraley, A. E., Bamshad, M. J. A new skeletal dysplasia with severe tibial bowing, profound developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in fibroblast growth factor receptor 3 (FGFR3). (Abstract) Am. J. Hum. Genet. 59 (suppl.): A25 only, 1996.
ENSG00000109927	TECTA	9590290	601543	Deafness, autosomal dominant 8/12	Kirshhofer, K., Hoover, D. M., Kenyon, J. B., Franz, P., Weipoltshammer, K., Wachtler, F., Kimberling, W. J. Localisation of a gene responsible for an autosomal dominant non-syndromic sensorineural hearing loss to chromosome 15. Molecular Biology of Hearing and Deafness, Bethesda, Md. 1995.
ENSG00000103197	TSC2	7581393	613254	Tuberous sclerosis-2	Kandt, R. S., Haines, J. L., Smith, M., Northrup, H., Gardner, R. J. M., Short, M. P., Dumars, K., Roach, E. S., Steingold, S., Wall, S., Blanton, S. H., Flodman, P., Kwiatkowski, D. J., Jewell, A., Weber, J. L., Roses, A. D., Pericak-Vance, M. A. Linkage of a major gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A4, 1992.
ENSG00000004939	SLC4A1	8282779	612653	Spherocytosis, type 4	Prchal, J. T., Guan, Y., Jarolim, P., Palek, J., Showe, L., Bertoli, L. Hereditary spherocytosis in a large family is linked with the band 3 gene and not with alpha-spectrin, beta-spectrin or ankyrin. (Abstract) Blood 78 (suppl.): 81a, 1991.
ENSG00000114573	ATP6V1A	28065471	617403	Cutis laxa, autosomal recessive, type IID	24459010
ENSG00000080572	PIH1D3	28041644	300991	Ciliary dyskinesia, primary, 36, X-linked	24421334
ENSG00000125780	TGM3	27866708	617251	Uncombable hair syndrome 2	24183230
ENSG00000110436	SLC1A2	27476654	617105	Epileptic encephalopathy, early infantile, 41	23934111
ENSG00000141837	CACNA1A	27476654	617106	Epileptic encephalopathy, early infantile, 42	23934111
ENSG00000155980	KIF5A	27463701	617235	Myoclonus, intractable, neonatal	24215330
ENSG00000142599	RERE	27087320	616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	23451234
ENSG00000114738	MAPKAPK3	26744326	617111	Macular dystrophy, patterned, 3	23370609
ENSG00000138821	SLC39A8	26637978	616721	Congenital disorder of glycosylation, type Iin	22563477
ENSG00000149256	TENM4	26188006	616736	Tremor, hereditary essential, 5	22915103
ENSG00000100578	KIAA0586	26166481	616546	Short-rib thoracic dysplasia 14 with polydactyly	22791528
ENSG00000213123	TCTEX1D2	26044572	617405	Short-rib thoracic dysplasia 17 with or without polydactyly	22791528
ENSG00000198793	MTOR	25851998	616638	Smith-Kingsmore syndrome 	22729223
ENSG00000167113	COQ4	25658047	616276	Coenzyme Q10 deficiency, primary, 7	22368301
ENSG00000143442	POGZ	25533962	616364	White-Sutton syndrome 	22495311
ENSG00000198824	CHAMP1	25533962	616579	Mental retardation, autosomal dominant 40	23020937
ENSG00000137513	NARS2	25385316	616239	Combined oxidative phosphorylation deficiency 24 	22237560
ENSG00000070614	NDST1	25125150	616116	Mental retardation, autosomal recessive 46	21937992
ENSG00000162065	TBC1D24	24387994	614617	Deafness , autosomal recessive 86	22211675
ENSG00000111799	COL12A1	24334604	616470	Ullrich congenital muscular dystrophy 2	21670218
ENSG00000111799	COL12A1	24334604	616471	Bethlem myopathy 2	21670218
ENSG00000182512	GLRX5	24334290	616859	Spasticity, childhood-onset, with hyperglycinemia	21471552
ENSG00000125875	TBC1D20	24239381	615663	Warburg micro syndrome 4 	20512159
ENSG00000186827	TNFRSF4	23897980	615593	Immunodeficiency 16	20156905
ENSG00000062822	POLD1	23770608	615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	20631028
ENSG00000065427	KARS	23768514	613916	Deafness, autosomal recessive 89	21181198
ENSG00000131652	THOC6	23621916	613680	Beaulieu-Boycott-Innes syndrome 	20503307
ENSG00000135486	HNRNPA1	23455423	615424	Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3	20116073
ENSG00000196998	WDR45	23176820	300894	Neurodegeneration with brain iron accumulation 5	18981035
ENSG00000136908	DPM2	23109149	615042	Congenital disorder of glycosylation, type Iu	19901254
ENSG00000117020	AKT3	22729224	615937	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	19353582
ENSG00000204351	SKIV2L	22444670	614602	Trichohepatoenteric syndrome 2	18982349
ENSG00000197943	PLCG2	22236196	614468	Familial cold autoinflammatory syndrome 3	19910034
ENSG00000115657	ABCB6	22226084	614497	Microphthalmia, isolated, with coloboma 7	19504436
ENSG00000013503	POLR3B	22036171	614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	18851904
ENSG00000163687	DNASE1L3	22019780	614420	Systemic lupus erythematosus 16	18204446
ENSG00000164946	FREM1	21931569	614485	Trigonocephaly 2	18452192
ENSG00000101997	CCDC22	21826058	300963	Ritscher-Schinzel syndrome 2 	19377476
ENSG00000112365	ZBTB24	21596365	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome-2	17893117
ENSG00000177646	ACAD9	21057504	611126	Mitochondrial complex I deficiency due to ACAD9 deficiency	17564966
ENSG00000065534	MYLK	21055718	613780	Aortic aneurysm, familial thoracic 7	17666408
ENSG00000112320	SOBP	21035105	613671	Mental retardation, anterior maxillary protrusion, and strabismus	17618476
ENSG00000128039	SRD5A3	20700148	612713	Kahrizi syndrome 	18781183
ENSG00000167632	TRAPPC9	20004763	613192	Mental retardation, autosomal recessive 13	17120046
ENSG00000144028	SNRNP200	19878916	610359	Retinitis pigmentosa 33	16612614
ENSG00000133392	MYH11	14722581	132900	Aortic aneurysm, familial thoracic 4	11249915
ENSG00000151348	EXT2	8782816	133701	Exostoses, multiple, type 2	8317501
ENSG00000169554	ZEB2	11279515	235730	Mowat-Wilson syndrome	9719364
ENSG00000102001	CACNA1F	9662399	300071	Night blindness, congenital stationary (incomplete), 2A, X-linked	7633454
ENSG00000229807	XIST	9354806	300087	X-inactivation, familial skewed	8198142
ENSG00000156298	TSPAN7	12070254	300210	Mental retardation, X-linked 58	10449641
ENSG00000165704	HPRT1	6020292	300322	Lesch-Nyhan syndrome 	14142409
ENSG00000182220	ATP6AP2	15746149	300423	Mental retardation, X-linked, syndromic, Hedera type	11782983
ENSG00000158352	SHROOM4	16249884	300434	Stocco dos Santos X-linked mental retardation syndrome	12673656
ENSG00000171365	CLCN5	8559248	300554	Hypophosphatemic rickets	7915957
ENSG00000137474	MYO7A	9171833	600060	Deafness, autosomal recessive 2	7951250
ENSG00000092758	COL9A3	10090888	600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy 	8528240
ENSG00000115155	OTOF	10192385	601071	Auditory neuropathy, autosomal recessive, 1	8789454
ENSG00000115155	OTOF	10192385	601071	Deafness, autosomal recessive 9	8789454
ENSG00000144452	ABCA12	10094194	601277	Ichthyosis, congenital, autosomal recessive 4A	8845852
ENSG00000114378	HYAL1	10339581	601492	Mucopolysaccharidosis type IX	8793927
ENSG00000165474	GJB2	9139825	601544	Deafness, autosomal dominant 3A	7881423
ENSG00000109101	FOXN1	10206641	601705	T-cell immunodeficiency, congenital alopecia, and nail dystrophy 	8911612
ENSG00000198691	ABCA4	9425888	601718	Retinitis pigmentosa 19	8556816
ENSG00000173991	TCAP	10655062	601954	Muscular dystrophy, limb-girdle, type 2G	9245996
ENSG00000169344	UMOD	12471200	603860	Medullary cystic kidney disease 2	10330352
ENSG00000114270	COL7A1	9182828	604129	Epidermolysis bullosa pruriginosa	8204470
ENSG00000155657	TTN	11788824	604145	Cardiomyopathy, dilated, 1G	10051295
ENSG00000073282	TP63	10535733	604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	8737655
ENSG00000113971	NPHP3	12872122	604387	Nephronophthisis 3	10631142
ENSG00000184009	ACTG1	13680526	604717	Deafness, autosomal dominant 20/26	10662538
ENSG00000111732	AICDA	11007475	605258	Immunodeficiency with hyper-IgM, type 2	9058789
ENSG00000126583	PRKCG	12644968	605361	Spinocerebellar ataxia 14 	10939565
ENSG00000196586	MYO6	15060111	606346	Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy	11468689
ENSG00000170624	SGCD	10974018	606685	Cardiomyopathy, dilated, 1L	9391120
ENSG00000181027	FKRP	11592034	607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	9577386
ENSG00000114270	COL7A1	9856844	607523	Toenail dystrophy, isolated	7577595
ENSG00000100934	SEC23A	16980979	607812	Craniolenticulosutural dysplasia 	12677423
ENSG00000132024	CC2D1A	16033914	608443	Mental retardation, autosomal recessive 3	14569116
ENSG00000138363	ATIC	15114530	608688	AICA-ribosiduria due to ATIC deficiency 	11323713
ENSG00000108439	PNPO	15772097	610090	Pyridoxamine 5'-phosphate oxidase deficiency	12200739
ENSG00000160789	LMNA	18611980	610140	Heart-hand syndrome, Slovenian type	15996213
ENSG00000166033	HTRA1	17053108	610149	Macular degeneration, age-related, 7	12900797
ENSG00000166033	HTRA1	17053108	610149	Macular degeneration, age-related, neovascular type	12900797
ENSG00000148384	INPP5E	19668215	610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis	16493448
ENSG00000107249	GLIS3	16715098	610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	12966531
ENSG00000184381	PLA2G6	16783378	610217	Neurodegeneration with brain iron accumulation 2B	12843330
ENSG00000164073	MFSD8	17564970	610951	Ceroid lipofuscinosis, neuronal, 7	15074367
ENSG00000187736	NHEJ1	16439204	611291	Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation	12604777
ENSG00000225190	PLEKHM1	17404618	611497	Osteopetrosis, autosomal recessive 6	14969387
ENSG00000197746	PSAP	1371116	611721	Combined SAP deficiency 	2514102
ENSG00000139174	PRICKLE1	18976727	612437	Epilepsy, progressive myoclonic 1B	15634728
ENSG00000116096	SPR	11443547	612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	9700606
ENSG00000143278	F13B	8324218	613235	Factor XIIIB deficiency	2334637
ENSG00000106366	SERPINE1	1435917	613329	Plasminogen activator inhibitor-1 deficiency	2496147
ENSG00000180509	KCNE1	10973849	613695	Long QT syndrome 5	9354802
ENSG00000143801	PSEN2	17186461	613697	Cardiomyopathy, dilated, 1V	14623725
ENSG00000100365	NCF4	19692703	613960	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III	16880254
ENSG00000254647	INS	381941	616214	Hyperproinsulinemia	815812
ENSG00000108556	CHRNE	8755487	616324	Myasthenic syndrome, congenital, 4B, fast-channel	8232384
ENSG00000008196	TFAP2B	18752453	617035	Patent ductus arteriosus 2 	15684060
ENSG00000130203	APOE	7175379	617347	Hyperlipoproteinemia, type III	759055
ENSG00000132669	RIN2	19631308	613075	Macrocephaly, alopecia, cutis laxa, and scoliosis	Verloes, A., Benmansour, A., Mortier, G., Pierard, G. E., Le Merrer, M. A new recessive connective tissue disorder with fleshy swelling of lips, lid and cheeks, macrocephaly, hyperextensible skin and severe scoliosis. (Abstract) 55th Annual Meeting, American Society of Human Genetics, Salt Lake City, Utah , 2005. P. 140.
ENSG00000111537	IFNG	15327519	609135	Aplastic anemia	Young, N. S. The etiology of acquired aplastic anemia. Rev. Clin. Exp. Hemat. 4: 236-239, 2000.
ENSG00000074047	GLI2	14581620	610829	Holoprosencephaly 9 	Guion-Almeida, M. L., Zechi-Ceidi, R. M., Richieri-Costa, A. Alobar holoprosencephaly sequence, anophthalmia, preauricular skin tags, and pulmonary hypoplasia: a previously undescribed condition. Braz. J. Dysmorph. Speech Hear. Disord. 3: 19-22, 1999.
ENSG00000165462	PHOX2A	11600883	602078	Fibrosis of extraocular muscles, congenital, 2	Engle, E. C., Wang, S. M., Zwaan, J. T., Mullaney, P. B., Jabak, M. H., Beggs, A. H. Linkage and homozygosity mapping of a variant of congenital fibrosis of the extraocular muscles to chromosome 11q13.1. (Abstract) Am. J. Hum. Genet. 61 (suppl.): A30 only, 1997.
ENSG00000143549	TPM3	7704029	609284	CAP myopathy 1 	Laing, N. G., Majda, B. T., Akkari, P. A., Layton, M. G., Mulley, J. C., Phillips, H., Haan, E. A., White, S. J., Beggs, A. H., Kunkel, L. M., Groth, D. M., Boundy, K. L., Kneebone, C. S., Blumbergs, P. C., Wilton, S. D., Speer, M. C., Kakulas, B. A. Assignment of nemaline myopathy (MIM 161800, NEM1) to chromosome 1. (Abstract) Cytogenet. Cell Genet. 58: 1858, 1991.
ENSG00000143549	TPM3	7704029	609284	Nemaline myopathy 1, autosomal dominant or recessive	Laing, N. G., Majda, B. T., Akkari, P. A., Layton, M. G., Mulley, J. C., Phillips, H., Haan, E. A., White, S. J., Beggs, A. H., Kunkel, L. M., Groth, D. M., Boundy, K. L., Kneebone, C. S., Blumbergs, P. C., Wilton, S. D., Speer, M. C., Kakulas, B. A. Assignment of nemaline myopathy (MIM 161800, NEM1) to chromosome 1. (Abstract) Cytogenet. Cell Genet. 58: 1858, 1991.
ENSG00000125505	MBOAT7	27616480	617188	Mental retardation, autosomal recessive 57	23097495
ENSG00000119866	BCL11A	27453576	617101	Dias-Logan syndrome	22542183
ENSG00000181656	GPR88	27123486	616939	Chorea, childhood-onset, with psychomotor retardation	23064379
ENSG00000154310	TNIK	27106596	617028	Mental retardation, autosomal recessive 54	23035106
ENSG00000012504	NR1H4	26888176	617049	Cholestasis, progressive familial intrahepatic, 5	21633855
ENSG00000101052	IFT52	26880018	617102	Short-rib thoracic dysplasia 	22791528
ENSG00000113721	PDGFRB	25454926	616592	Kosaki overgrowth syndrome	21307714
ENSG00000106976	DNM1	25262651	616346	Epileptic encephalopathy, early infantile, 31	20700442
ENSG00000152217	SETBP1	25217958	616078	Mental retardation, autosomal dominant 29	21037274
ENSG00000081148	IMPG2	25085631	616152	Macular dystrophy, vitelliform, 5	20673862
ENSG00000108375	RNF43	24512911	617108	Sessile serrated polyposis cancer syndrome	20584785
ENSG00000163389	POGLUT1	24387993	615696	Dowling-Degos disease 4	20664185
ENSG00000119333	WDR34	24183449	615633	Short-rib thoracic dysplasia 11 with or without polydactyly	19610081
ENSG00000179950	PUF60	24140112	615583	Verheij syndrome 	19464398
ENSG00000103489	XYLT1	23982343	615777	Desbuquois dysplasia 2	21037275
ENSG00000198198	SZT2	23932106	615476	Epileptic encephalopathy, early infantile, 18	19624305
ENSG00000131943	C19orf12	23857908	615043	Spastic paraplegia 43, autosomal recessive	20039086
ENSG00000173540	GMPPB	23768512	615351	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14	19901254
ENSG00000258366	RTEL1	23453664	615190	Dyskeratosis congenita, autosomal dominant 4	19461895
ENSG00000258366	RTEL1	23453664	615190	Dyskeratosis congenita, autosomal recessive 5	19461895
ENSG00000113721	PDGFRB	23255827	615007	Basal ganglia calcification, idiopathic, 4	19506901
ENSG00000163644	PPM1K	23086801	615135	Maple syrup urine disease, mild variant	19411760
ENSG00000155906	RMND1	23022099	614922	Combined oxidative phosphorylation deficiency 11	18835491
ENSG00000145794	MEGF10	22101682	614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	17236770
ENSG00000145794	MEGF10	22101682	614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant	17236770
ENSG00000118402	ELOVL4	22100072	614457	Ichthyosis, spastic quadriplegia, and mental retardation	17208947
ENSG00000136720	HS6ST1	21700882	614880	Hypogonadotropic hypogonadism 15 with or without anosmia	17761590
ENSG00000140968	IRF8	21524210	614893	Immunodeficiency 32A, mycobacteriosis, autosomal dominant	17616516
ENSG00000118965	WDR35	21473986	614091	Short-rib thoracic dysplasia 7 with or without polydactyly	17935248
ENSG00000237693	IRGM	21278745	612278	Inflammatory bowel disease (Crohn disease) 19	17447842
ENSG00000165168	CYBB	21278736	300645	Immunodeficiency 34, mycobacteriosis, X-linked	17293536
ENSG00000132517	SLC52A1	21089064	615026	Riboflavin deficiency 	17689999
ENSG00000133703	KRAS	21079152	614470	RAS-associated autoimmune leukoproliferative disorder	17517660
ENSG00000120948	TARDBP	20697052	612069	Frontotemporal lobar degeneration, TARDBP-related	17036243
ENSG00000126934	MAP2K2	20358587	615280	Cardiofaciocutaneous syndrome 4 	16439621
ENSG00000169057	MECP2	10986043	300055	Mental retardation, X-linked, syndromic 13	8651288
ENSG00000129675	ARHGEF6	11017088	300436	Mental retardation, X-linked 46	8737982
ENSG00000072506	HSD17B10	12696021	300438	17-beta-hydroxysteroid dehydrogenase X deficiency 	10521307
ENSG00000018510	AGPS	9553082	600121	Rhizomelic chondrodysplasia punctata, type 3	7807941
ENSG00000112041	TULP1	9462751	600132	Retinitis pigmentosa 14	7987322
ENSG00000080815	PSEN1	9641683	600274	Dementia, frontotemporal	7977375
ENSG00000186868	MAPT	9641683	600274	Dementia, frontotemporal, with or without parkinsonism	7977375
ENSG00000214160	ALG3	10581255	601110	Congenital disorder of glycosylation, type Id	8552211
ENSG00000211899	IGHM	8890099	601495	Agammaglobulinemia 1	1560108
ENSG00000092621	PHGDH	11055895	601815	Phosphoglycerate dehydrogenase deficiency	8758134
ENSG00000074582	BCS1L	11977179	603358	GRACILE syndrome 	9482441
ENSG00000164414	SLC35A1	15576474	603585	Congenital disorder of glycosylation, type Iif	11157507
ENSG00000169174	PCSK9	12730697	603776	Hypercholesterolemia, familial, 3	10205269
ENSG00000118137	APOA1	10431236	604091	Hypoalphalipoproteinemia	7627690
ENSG00000165029	ABCA1	10431236	604091	HDL deficiency, type 2	7627690
ENSG00000166147	FBN1	8406497	604308	MASS syndrome 	2739055
ENSG00000126778	SIX1	15141091	605192	Deafness, autosomal dominant 23	10777717
ENSG00000134240	HMGCS2	11228257	605911	HMG-CoA synthase-2 deficiency	9337379
ENSG00000075624	ACTB	16685646	607371	Dystonia, juvenile-onset	12325076
ENSG00000113851	CRBN	15557513	607417	Mental retardation, autosomal recessive 2	10932263
ENSG00000152492	CCDC50	17503326	607453	Deafness, autosomal dominant 44	12483295
ENSG00000167397	VKORC1	14765194	607473	Vitamin K-dependent clotting factors, combined deficiency of, 2	11154138
ENSG00000065361	ERBB3	17701904	607598	Lethal congenital contractural syndrome 2	12548738
ENSG00000162337	LRP5	12579474	607636	van Buchem disease, type 2	10434540
ENSG00000126778	SIX1	15141091	608389	Branchiootic syndrome 3 	10762556
ENSG00000135218	CD36	7686693	608404	Platelet glycoprotein IV deficiency	2617957
ENSG00000081237	PTPRC	11145714	608971	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive	9068311
ENSG00000084754	HADHA	7738175	609015	Trifunctional protein deficiency 	2019931
ENSG00000152952	PLOD2	12881513	609220	Bruck syndrome 2	9927692
ENSG00000151729	SLC25A4	10926541	609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	8644740
ENSG00000165730	STOX1	15806103	609404	Preeclampsia/eclampsia 4 	11781687
ENSG00000156113	KCNMA1	15937479	609446	Generalized epilepsy and paroxysmal dyskinesia	11520321
ENSG00000128591	FLNC	15929027	609524	Myopathy, myofibrillar, 5	11222786
ENSG00000055118	KCNH2	14676148	609620	Short QT syndrome 1	11173780
ENSG00000134755	DSC2	17033975	610476	Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair	12392835
ENSG00000170275	CRTAP	17055431	610682	Osteogenesis imperfecta, type VII	12110406
ENSG00000151498	ACAD8	12359132	611283	Isobutyryl-CoA dehydrogenase deficiency	9889013
ENSG00000164690	SHH	12503095	611638	Microphthalmia with coloboma 5	10556296
ENSG00000172548	NIPAL4	15317751	612281	Ichthyosis, congenital, autosomal recessive 6	10712205
ENSG00000131183	SLC34A1	12324554	612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1	9560283
ENSG00000141655	TNFRSF11A	18606301	612301	Osteopetrosis, autosomal recessive 7	15231021
ENSG00000099937	SERPIND1	2647747	612356	Thrombophilia due to heparin cofactor II deficiency 	2863444
ENSG00000115840	SLC25A12	19641205	612949	Epileptic encephalopathy, early infantile, 39	15987682
ENSG00000130226	DPP6	19285295	612956	Ventricular fibrillation, paroxysmal familial, 2	15890703
ENSG00000178538	CA8	19461874	613227	Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3	16118194
ENSG00000103051	COG4	19494034	613489	Congenital disorder of glycosylation, type Iij	16356446
ENSG00000117298	ECE1	9915973	613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	8530372
ENSG00000244734	HBB	287080	613985	Thalassemias, beta-	49057
ENSG00000133063	CHIT1	9748235	614122	Chitotriosidase deficiency	8132768
ENSG00000186197	EDARADD	11780064	614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	9245989
ENSG00000171608	PIK3CD	16984281	615513	Immunodeficiency 14 	12130661
ENSG00000113569	NUP155	19070573	615770	Atrial fibrillation 15	15596564
ENSG00000117593	DARS2	17384640	611105	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation	van der Knaap, M. S., van der Voorn, P., Barkhof, F., Van Coster, R., Krageloh-Mann, I., Feigenbaum, A., Blaser, S., Vles, J. S. H., Rieckmann, P., Pouwels, P. J. W. A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann. Neurol. 53: 252-258, 2002.
ENSG00000168000	BSCL2	11479539	269700	Lipodystrophy, congenital generalized, type 2	Seip, M., Trygstad, O. Generalized lipodystrophy, congenital and acquired (lipoatrophy). Acta Paediat. Suppl. 413: 2-28, 1996.
ENSG00000158683	PKD1L1	27616478	617205	Heterotaxy, visceral, 8, autosomal	21307093
ENSG00000136710	CCDC115	26833332	616828	Congenital disorder of glycosylation, type Iio	21362473
ENSG00000119638	NEK9	26633546	614262	Arthrogryposis, Perthes disease, and upward gaze palsy	21271645
ENSG00000070831	CDC42	26386261	616737	Takenouchi-Kosaki syndrome 	20139097
ENSG00000163702	IL17RC	25918342	616445	Candidiasis, familial, 9	20554964
ENSG00000177301	KCNA2	25477152	616366	Epileptic encephalopathy, early infantile, 32	20696761
ENSG00000177565	TBL1XR1	25102098	616944	Mental retardation, autosomal dominant 41 	19760657
ENSG00000072195	SPEG	25087613	615959	Centronuclear myopathy 5 	19118250
ENSG00000006042	TMEM98	24852644	615972	Nanophthalmos 4 	19452014
ENSG00000223802	CERS1	24782409	616230	Epilepsy, progressive myoclonic, 8	19243074
ENSG00000124486	USP9X	24607389	300919	Mental retardation, X-linked 99	19377476
ENSG00000141161	UNC45B	24549050	616279	Cataract 43	19182255
ENSG00000076685	NT5C2	24482476	613162	Spastic paraplegia 45, autosomal recessive	19415352
ENSG00000186153	WWOX	24456803	616211	Epileptic encephalopathy, early infantile, 28	19500159
ENSG00000140691	ARMC5	24283224	615954	ACTH-independent macronodular adrenal hyperplasia 2	19018784
ENSG00000105996	HOXA2	23775976	612290	Microtia with or without hearing impairment (AD)	18394579
ENSG00000142611	PRDM16	23768516	615373	Cardiomyopathy, dilated, 1LL	18506004
ENSG00000142611	PRDM16	23768516	615373	Left ventricular noncompaction 8	18506004
ENSG00000141522	ARHGDIA	23434736	615244	Nephrotic syndrome, type 8	19029984
ENSG00000132932	ATP8A2	22892528	615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4	18326629
ENSG00000176842	IRX5	22581230	611174	Hamamy syndrome	17230486
ENSG00000170498	KISS1	22335740	614842	Hypogonadotropic hypogonadism 13 with or without anosmia	17761590
ENSG00000138347	MYPN	22286171	615248	Cardiomyopathy, familial restrictive, 4	18006477
ENSG00000156110	ADK	21963049	614300	Hypermethioninemia due to adenosine kinase deficiency	17120046
ENSG00000126091	ST3GAL3	21907012	611090	Mental retardation, autosomal recessive 12	17120046
ENSG00000215417	MIR17HG	21892160	614326	Feingold syndrome 2	16906565
ENSG00000167716	WDR81	21885617	610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	16484061
ENSG00000134049	IER3IP1	21835305	614231	Microcephaly, epilepsy, and diabetes syndrome	16972080
ENSG00000130294	KIF1A	21487076	610357	Spastic paraplegia 	16434418
ENSG00000182173	TSEN54	21368912	610204	Pontocerebellar hypoplasia type 5	16470708
ENSG00000177663	IL17RA	21350122	613953	Immunodeficiency 51	16670328
ENSG00000147475	ERLIN2	21330303	611225	Spastic paraplegia 18, autosomal recessive	16636240
ENSG00000166257	SCN3B	20558140	613120	Atrial fibrillation, familial	15655131
ENSG00000141385	AFG3L2	20208537	610246	Spinocerebellar ataxia 28	16251216
ENSG00000094631	HDAC6	20181727	300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	16001442
ENSG00000106025	TSPAN12	20159111	613310	Exudative vitreoretinopathy 5	15665352
ENSG00000213398	LCAT	6428166	136120	Fish-eye disease	91022
ENSG00000122971	ACADS	2808706	201470	Acyl-CoA dehydrogenase, short-chain, deficiency of	6493275
ENSG00000178537	SLC25A20	9399886	212138	Carnitine-acylcarnitine translocase deficiency	1598097
ENSG00000135636	DYSF	9731527	253601	Muscular dystrophy, limb-girdle, type 2B	8320700
ENSG00000115085	ZAP70	8124727	269840	Immunodeficiency 48	2511270
ENSG00000120889	TNFRSF10B	9721851	275355	Squamous cell carcinoma, head and neck	8327510
ENSG00000147202	DIAPH2	9497258	300511	Premature ovarian failure	8406446
ENSG00000126012	KDM5C	15586325	300534	Mental retardation, X-linked, syndromic, Claes-Jensen type	10982473
ENSG00000102119	EMD	7894480	310300	Emery-Dreifuss muscular dystrophy 1, X-linked	2685312
ENSG00000171365	CLCN5	8559248	310468	Nephrolithiasis, type I	1908057
ENSG00000147168	IL2RG	7883965	312863	Combined immunodeficiency, X-linked, moderate	2243135
ENSG00000117013	KCNQ4	10025409	600101	Deafness, autosomal dominant 2A	8035838
ENSG00000160183	TMPRSS3	11137999	601072	Deafness, autosomal recessive 8/10	8789456
ENSG00000112319	EYA4	11159937	601316	Deafnessautosomal dominant 10	8776603
ENSG00000107736	CDH23	11090341	601386	Deafness, autosomal recessive 12	8817348
ENSG00000118194	TNNT2	11106718	601494	Cardiomyopathy, dilated, 1D	8825069
ENSG00000118194	TNNT2	11106718	601494	Left ventricular noncompaction 6	8825069
ENSG00000128973	CLN6	11791207	601780	Ceroid lipofuscinosis, neuronal, 6	9097964
ENSG00000128973	CLN6	11727201	601780	Ceroid lipofuscinosis, neuronal, 6	9097964
ENSG00000171867	PRNP	10581230	603218	Huntington disease-like 1	8178825
ENSG00000136280	CCM2	14624391	603284	Cerebral cavernous malformations-2	9811928
ENSG00000079841	RIMS1	12659814	603649	Cone-rod dystrophy 7	9634506
ENSG00000100427	MLC1	11254442	604004	Megalencephalic leukoencephalopathy with subcortical cysts 	8841668
ENSG00000060069	CTDP1	14517542	604168	Congenital cataracts, facial dysmorphism, and neuropathy	9638664
ENSG00000171953	ATPAF2	14757859	604273	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	10484764
ENSG00000136861	CDK5RAP2	15793586	604804	Microcephaly 3, primary, autosomal recessive	10677332
ENSG00000251322	SHANK3	16284256	606232	Phelan-McDermid syndrome	11391650
ENSG00000117118	SDHB	17804857	606864	Paraganglioma and gastric stromal sarcoma	11857563
ENSG00000143252	SDHC	17804857	606864	Paraganglioma and gastric stromal sarcoma	11857563
ENSG00000204370	SDHD	17804857	606864	Paraganglioma and gastric stromal sarcoma	11857563
ENSG00000198001	IRAK4	12637671	607676	IRAK4 deficiency	9789052
ENSG00000104728	ARHGEF10	14508709	608236	Slowed nerve conduction velocity, AD	9678704
ENSG00000119715	ESRRB	18179891	608565	Deafness, autosomal recessive 35	12529709
ENSG00000153574	RPIA	14988808	608611	Ribose 5-phosphate isomerase deficiency	10589548
ENSG00000138029	HADHB	8651282	609015	Trifunctional protein deficiency	2019931
ENSG00000084754	HADHA	7811722	609016	Fatty liver, acute, of pregnancy	2567831
ENSG00000084754	HADHA	7811722	609016	LCHAD deficiency 	2567831
ENSG00000168267	PTF1A	15543146	609069	Pancreatic and cerebellar agenesis 	10507728
ENSG00000043355	ZIC2	9771712	609637	Holoprosencephaly 5	8418661
ENSG00000182372	CLN8	10508524	610003	Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant	8014963
ENSG00000134250	NOTCH2	16773578	610205	Alagille syndrome 2	11171333
ENSG00000214274	ANG	15557516	611895	Amyotrophic lateral sclerosis 9 	10371543
ENSG00000163050	COQ8A	18319074	612016	Coenzyme Q10 deficiency, primary, 4	12682339
ENSG00000163050	COQ8A	18319072	612016	Coenzyme Q10 deficiency, primary, 4	12682339
ENSG00000018236	CNTN1	19026398	612540	Myopathy, congenital, Compton-North	12899872
ENSG00000136931	NR5A1	10369247	612965	46XY sex reversal 3	8187173
ENSG00000199158	MIR96	19363479	613074	Deafness, autosomal dominant 50	14757864
ENSG00000136573	BLK	19667185	613375	Maturity-onset diabetes of the young, type 11	15111509
ENSG00000012174	MBTPS2	22931912	300918	Olmsted syndrome, X-linked	17367233
ENSG00000100024	UPB1	15385443	613161	Beta-ureidopropionase deficiency 	Assmann, B., Gohlich-Ratmann, G., Brautigam, C., Wagner, L., Moolenaar, S., Engelke, U., Wevers, R., Voit, T., Hoffmann, G. F. Presumptive ureidopropionase deficiency as a new defect in pyrimidine catabolism found with in vitro H-NMR spectroscopy. J. Inherit. Metab. Dis. 21 (suppl. 2): 1 only, 1998.
ENSG00000075643	MOCOS	11302742	603592	Xanthinuria, type II	Simmonds, H. A., Reiter, S., Nishino, T. Hereditary xanthinuria. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II New York: McGraw-Hill 1995. P. 1781.
ENSG00000198951	NAGA	8040340	609242	Kanzaki disease 	Kanzaki, T., Yokota, M., Mizuno, N. Clinical and ultrastructural studies of novel angiokeratoma corporis diffusum. (Abstract) Clin. Res. 36: 377A only, 1988.
ENSG00000166228	PCBD1	8352282	264070	Hyperphenylalaninemia, BH4-deficient, D	Dhondt, J.-L., Forzy, G., Hayte, J. M., Guibaud, P., Rolland, M. O., Dorche, C., Andre, S. Impaired biopterin synthesis in a patient with mild hyperphenylalaninemia: a new variant? In: Curtius, H.-C.; Blau, N.; Levin, R. A.: Unconjugated Pterins and Related Biogenic Amines. Berlin: de Gruyter (pub.) 1987. Pp. 257-263.
ENSG00000175707	KDF1	27838789	617337	Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type	20979233
ENSG00000187714	SLC18A3	27590285	617239	Myasthenic syndrome, congenital, 21, presynaptic	20123977
ENSG00000069966	GNB5	27523599	617182	Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia	20959458
ENSG00000260230	FRRS1L	27236917	616981	Epileptic encephalopathy, early infantile, 37	21147040
ENSG00000166974	MAPRE2	26637975	616734	Symmetric circumferential skin creases, congenital, 2	19182162
ENSG00000103657	HERC1	26138117	617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	20041218
ENSG00000131183	SLC34A1	26047794	616963	Hypercalcemia, infantile, 2	20466674
ENSG00000157103	SLC6A1	25865495	616421	Myoclonic-atonic epilepsy	19966779
ENSG00000258366	RTEL1	25848748	616373	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3	19461895
ENSG00000125352	RNF113A	25612912	300953	?Trichothiodystrophy 5, nonphotosensitive	19377476
ENSG00000141378	PTRH2	25574476	616263	Infantile-onset multisystem neurologic, endocrine, and pancreatic disease	18218778
ENSG00000138741	TRPC3	25477146	616410	Spinocerebellar ataxia 41	19351902
ENSG00000125885	MCM8	25437880	612885	Premature ovarian failure 10	19448619
ENSG00000217930	PAM16	24786642	613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type	18925669
ENSG00000185551	NR2F2	24702954	615779	Congenital heart defects, multiple types, 4	18371933
ENSG00000148842	CNNM2	24699222	616418	Hypomagnesemia, seizures, and mental retardation	18371933
ENSG00000119139	TJP2	24614073	615878	Cholestasis, progressive familial intrahepatic 4	18172007
ENSG00000112367	FIG4	24598713	612691	Polymicrogyria, bilateral temporooccipital	18758830
ENSG00000152422	XRCC4	24389050	616541	Short stature, microcephaly, and endocrine dysfunction	18695064
ENSG00000077150	NFKB2	24140114	615577	Immunodeficiency, common variable, 10	18025196
ENSG00000254585	MAGEL2	24076603	615547	Schaaf-Yang syndrome 	17728320
ENSG00000077092	RARB	24075189	615524	Microphthalmia, syndromic 12	17506106
ENSG00000139318	DUSP6	23643382	615269	Hypogonadotropic hypogonadism 19 with or without anosmia	17761590
ENSG00000144730	IL17RD	23643382	615267	Hypogonadotropic hypogonadism 18 with or without anosmia	17761590
ENSG00000187678	SPRY4	23643382	615266	Hypogonadotropic hypogonadism 17 with or without anosmia	17761590
ENSG00000177098	SCN4B	23604097	611819	Atrial fibrillation, familial, 17	17592081
ENSG00000125656	CLPP	23541340	614129	Perrault syndrome 3	17690910
ENSG00000085788	DDHD2	23176823	615033	Spastic paraplegia 54, autosomal recessive	16636240
ENSG00000010818	HIVEP2	23020937	616977	Mental retardation, autosomal dominant 43	16836985
ENSG00000103507	BCKDK	22956686	614923	Branched-chain ketoacid dehydrogenase kinase deficiency	16875466
ENSG00000172269	DPAGT1	22742743	614750	Myasthenic syndrome, congenital, 13, with tubular aggregates	16870884
ENSG00000122335	SERAC1	22683713	614739	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 	16527507
ENSG00000172007	RAB33B	22652534	615222	Smith-McCort dysplasia 2	16470731
ENSG00000037474	NSUN2	22541559	611091	Mental retardation, autosomal recessive 5	17120046
ENSG00000247626	MARS2	22448145	611390	Spastic ataxia 3, autosomal recessive	16672289
ENSG00000104738	MCM4	22354167	609981	Natural killer cell and glucocorticoid deficiency with DNA repair defect	16532402
ENSG00000148606	POLR3A	21855841	607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism	15851747
ENSG00000102158	MAGT1	21796205	300853	Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia	15804357
ENSG00000128591	FLNC	21620354	614065	Myopathy, distal, 4	15824355
ENSG00000145103	ILDR1	21255762	609646	Deafness, autosomal recessive 42	15641023
ENSG00000165280	VCP	21145000	613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia	15034582
ENSG00000101327	PDYN	21035104	610245	Spinocerebellar ataxia 23 	15306549
ENSG00000165240	ATP7A	20170900	300489	Spinal muscular atrophy, distal, X-linked 3	14985388
ENSG00000113231	PDE8B	20085714	609161	Striatal degeneration, autosomal dominant	15210883
ENSG00000203485	INF2	20023659	613237	Glomerulosclerosis, focal segmental, 5	14750104
ENSG00000115718	PROC	2437584	176860	Thrombophilia due to protein C deficiency, autosomal dominant	6895379
ENSG00000116906	GNPAT	9536089	222765	Rhizomelic chondrodysplasia punctata, type 2	1405476
ENSG00000161533	ACOX1	8040306	264470	Peroxisomal acyl-CoA oxidase deficiency	2894756
ENSG00000169306	IL1RAPL1	10471494	300143	Mental retardation, X-linked 21/34	8357005
ENSG00000169057	MECP2	15689435	300260	Mental retardation, X-linked syndromic, Lubs type	10398236
ENSG00000172943	PHF8	16199551	300263	Mental retardation syndrome, X-linked, Siderius type	10398231
ENSG00000004848	ARX	11971879	300419	Mental retardation, X-linked 29 and others	9001795
ENSG00000203879	GDI1	9620768	300849	Mental retardation, X-linked 41	1362558
ENSG00000171867	PRNP	1439789	600072	Insomnia, fatal familial	3762620
ENSG00000198626	RYR2	11159936	600996	Arrhythmogenic right ventricular dysplasia 2	8589694
ENSG00000183873	SCN5A	9521325	601144	Brugada syndrome 1	1309182
ENSG00000117360	PRPF3	11773002	601414	Retinitis pigmentosa 18	8842740
ENSG00000135828	RNASEL	11799394	601518	Prostate cancer 1	8910276
ENSG00000018625	ATP1A2	12539047	602481	Migraine, familial basilar	9403481
ENSG00000018625	ATP1A2	12539047	602481	Migraine, familial hemiplegic	9403481
ENSG00000137672	TRPC6	15879175	603965	Glomerulosclerosis, focal segmental, 2	10200986
ENSG00000155980	KIF5A	12355402	604187	Spastic paraplegia 10, autosomal dominant	8649538
ENSG00000020922	MRE11	10612394	604391	Ataxia-telangiectasia-like disorder	8445618
ENSG00000144285	SCN1A	16326807	604403	Febrile seizures, familial, 3A	10486327
ENSG00000171954	CYP4F22	16436457	604777	Ichthyosis, congenital, autosomal recessive 5	10712223
ENSG00000139219	COL2A1	1975693	604864	Osteoarthritis with mild chondrodysplasia 	6496567
ENSG00000131398	KCNC3	16501573	605259	Spinocerebellar ataxia 13	10820125
ENSG00000105974	CAV1	18237401	606721	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome	11781404
ENSG00000089280	FUS	19251627	608030	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia	12858291
ENSG00000077942	FBLN1	11836357	608180	Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses	8831136
ENSG00000019991	HGF	19576567	608265	Deafness, autosomal recessive 39	14512973
ENSG00000188452	CERKL	14681825	608380	Retinitis pigmentosa 26	9507394
ENSG00000007314	SCN4A	8308722	608390	Myotonia congenita atypical acetazolamide-responsive 	3822145
ENSG00000033011	ALG1	14973782	608540	Congenital disorder of glycosylation, type Ik	9762608
ENSG00000033011	ALG1	14973778	608540	Congenital disorder of glycosylation, type Ik	9762608
ENSG00000033011	ALG1	14709599	608540	Congenital disorder of glycosylation, type Ik	9762608
ENSG00000084754	HADHA	7846063	609016	HELLP syndrome, maternal, of pregnancy	2567831
ENSG00000119614	VSX2	10932181	610092	Microphthalmia with coloboma 3	8209881
ENSG00000131187	F12	16638441	610618	Angioedema, hereditary, type III	10963200
ENSG00000109906	ZBTB16	18611983	612447	Skeletal defects, genital hypoplasia, and mental retardation 	11891687
ENSG00000143839	REN	19664745	613092	Hyperuricemic nephropathy, familial juvenile 2	12634862
ENSG00000087470	DNM1L	17460227	614388	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission 1	11514614
ENSG00000141551	CSNK1D	15800623	615224	Advanced sleep-phase syndrome, familial, 2	10470086
ENSG00000160654	CD3G	1635567	615607	Immunodeficiency 17, CD3 gamma deficient	2872416
ENSG00000189057	FAM111B	24268661	615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	17034542
ENSG00000122482	ZNF644	21695231	614167	Myopia 21	Kaiser, P. K., Friedman, N. J., Pineda, R., II. The Massachusetts Eye and Ear Infirmary Illustrated Manual of Ophthalmology. Vol. 2. Philadelphia : Saunders , 2004. P. 457.
ENSG00000090006	LTBP4	19836010	613177	Cutis laxa, autosomal recessive, type IC	Davidson, J. M., Giro, M. Cutis laxa and premature aging syndromes.In: Royce, P. M.; Steinmann, B. (eds.) : Connective Tissue and its Heritable Disorders: Molecular, Genetic, and Medical Aspects. (2nd ed.) New York: Wiley Liss (pub.) 2002. Pp. 525-560.
ENSG00000125965	GDF5	16532400	610017	Multiple synostoses syndrome 2	Akarsu, A. N., Rezaie, T., Demirtas, M., Farhud, D. D., Sarfarazi, M. Multiple synostosis type 2 (SYNS2) maps to 20q11.2 and caused by a missense mutation in the growth/differentiation factor 5 (GDF5). Am. J. Hum. Genet. Suppl. 65: A281 only, 1999.
ENSG00000087086	FTL	11438811	606159	Neurodegeneration with brain iron accumulation 3	Hirayama, K., Takayanagi, T., Nakamura, R., Yanagisawa, N., Hattori, T., Kita, K., Yanagimoto, S., Fujita, M., Nagaoka, M., Satomura, Y., Sobue, I., Iizuka, R., Toyokura, Y., Satoyoshi, E. Spinocerebellar degenerations in Japan: a nationwide epidemiological and clinical study. Acta Neurol. Scand. 89 (suppl. 153): 1-22, 1994.
ENSG00000136698	CFC1	11062482	605376	Heterotaxy, visceral, 2, autosomal	Perry, L. W., Neill, C. A., Ferencz, C., Rubin, J. D., Loffredo, C. A. Infants with congenital heart disease: the cases. In: Ferencz, C.; Rubin, J. D.; Loffredo, C. A.; Magee, C. A. (eds.): Epidemiology of Congenital Heart Disease: The Baltimore-Washington Infant Study 1981-1989. Vol. 4. Perspectives in Pediatric Cardiology. Mount Kisco, NY: Futura Publ. Co. 1993. Pp. 33-62.
ENSG00000143970	ASXL2	27693232	617190	Shashi-Pena syndrome 	19270745
ENSG00000141013	GAS8	26387594	616726	Ciliary dyskinesia, primary, 33	19043402
ENSG00000095787	WAC	26264232	616708	Desanto-Shinawi syndrome 	18080323
ENSG00000147416	ATP6B1B2	25915598	616455	Zimmermann-Laband syndrome 2	18541964
ENSG00000128610	FEZF1	25192046	616030	Hypogonadotropic hypogonadism 22, with or without anosmia	17761590
ENSG00000170484	KRT74	24714551	614929	Ectodermal dysplasia 7, hair/nail type	17489990
ENSG00000186153	WWOX	24369382	614322	Spinocrebellar ataxia, autosomal recessive 12	17470496
ENSG00000129250	KIF1C	24319291	611302	Spastic ataxia 2, autosomal recessive	17273843
ENSG00000185532	PRKG1	23910461	615436	Aortic aneurysm, familial thoracic 8	16646045
ENSG00000174080	CTSF	23297359	615362	Ceroid lipofuscinosis, neuronal, 13, Kufs type	16508006
ENSG00000100523	DDHD1	23176821	609340	Spastic paraplegia 28, autosomal recessive	15786464
ENSG00000136425	CIB2	23023331	609439	Deafness autosomal recessive 48 	15711797
ENSG00000167658	EEF2	23001565	609306	Spinocerebellar ataxia 26	15732118
ENSG00000197943	PLCG2	23000145	614878	Autoinflammation, antibody deficiency, and immune dysregulation syndrome	15845450
ENSG00000101333	PLCB4	22560091	614669	Auriculocondylar syndrome 2 	16114046
ENSG00000169359	SLC33A1	22243965	614482	Congenital cataracts, hearing loss, and neurodegeneration	15902551
ENSG00000174640	SLCO2A1	22197487	614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2	16283874
ENSG00000140092	FBLN5	21576112	608895	Macular degeneration, age-related, 3	15269314
ENSG00000140092	FBLN5	21576112	608895	Neuropathy, hereditary, with or without age-related macular degeneration	15269314
ENSG00000134571	MYBPC3	21551322	615396	Left ventricular noncompaction 10 	15519027
ENSG00000072864	NDE1	21529752	614019	Lissencephaly 4 (with microcephaly)	15473967
ENSG00000177990	DPY19L2	21397063	613958	Spermatogenic failure 9	15533374
ENSG00000120925	RNF170	21115467	608984	Ataxia, sensory, 1, autosomal dominant	15286160
ENSG00000109618	SEPSECS	20920667	613811	Pontocerebellar hypoplasia type 2D	12920088
ENSG00000139304	PTPRQ	20346435	613391	Deafness, autosomal recessive 84A	14534255
ENSG00000197594	ENPP1	20137773	613312	Hypophosphatemic rickets, autosomal recessive, 2	12881724
ENSG00000184156	KCNQ3	9425900	121201	Seizures, benign neonatal, type 2	1859177
ENSG00000225830	ERCC6	9443879	133540	Cockayne syndrome, type B	1951442
ENSG00000147889	CDKN2A	10797439	155755	Melanoma and neural system tumor syndrome	8414022
ENSG00000196712	NF1	9529361	162210	Neurofibromatosis, familial spinal	1745350
ENSG00000108557	RAI1	8401506	182290	Smith-Magenis syndrome	2425619
ENSG00000127948	POR	14758361	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	9332650
ENSG00000133111	RFXAP	3934559	209920	Bare lymphocyte syndrome, type II, complementation group D	650344
ENSG00000143390	RFX5	3934559	209920	Bare lymphocyte syndrome, type II, complementation group C	650344
ENSG00000143390	RFX5	3934559	209920	Bare lymphocyte syndrome, type II, complementation group E	650344
ENSG00000139515	PDX1	9399911	245349	Lacticacidemia due to PDX1 deficiency	2112155
ENSG00000006016	CRLF1	12509788	272430	Cold-induced sweating syndrome 1 	8723066
ENSG00000077279	DCX	9489699	300067	Lissencephaly, X-linked	1922811
ENSG00000077279	DCX	9489699	300067	Subcortical laminal heteropia, X-linked	1922811
ENSG00000158290	CUL4B	17236139	300354	Mental retardation, X-linked, syndromic 15 (Cabezas type)	10978355
ENSG00000174231	PRPF8	11468273	600059	Retinitis pigmentosa 13	7951236
ENSG00000108231	LGI1	11810107	600512	Epilepsy, familial temporal lobe, 1	7647791
ENSG00000181585	TMIE	12145746	600971	Deafness, autosomal recessive 6	8593615
ENSG00000165091	TMC1	11850618	600974	Deafness, autosomal recessive 7	8634715
ENSG00000122367	LDB3	14662268	601493	Cardiomyopathy, dilated, 1C, with or without LVNC	8823300
ENSG00000122367	LDB3	14662268	601493	Left ventricular noncompaction 3	8823300
ENSG00000244752	CRYBB2	9158139	601547	Cataract 3, multiple types	2240043
ENSG00000169714	CNBP	11486088	602668	Myotonic dystrophy 2	8058147
ENSG00000114209	PDCD10	15543491	603285	Cerebral cavernous malformations 3	9811928
ENSG00000130638	ATXN10	11017075	603516	Spinocerebellar ataxia 10	8421960
ENSG00000163898	LIPH	17095700	604379	Hypotrichosis 7	10509509
ENSG00000163898	LIPH	17095700	604379	Woolly hair, autosomal recessive 2 with or without hypotrichosis	10509509
ENSG00000145354	CISD2	17846994	604928	Wolfram syndrome 2 	10739754
ENSG00000101421	CHMP4B	17701905	605387	Cataract 31, multiple types	10682967
ENSG00000223953	C1QTNF5	12944416	605670	Retinal degeneration, late-onset, autosomal dominant	8759344
ENSG00000117394	SLC2A1	9462754	606777	GLUT1 deficiency syndrome 1, infantile onset, severe	1714544
ENSG00000135917	SLC19A3	15871139	607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)	9679779
ENSG00000170820	FSHR	12930927	608115	Ovarian hyperstimulation syndrome	8894317
ENSG00000230223	ATXN8OS	16804541	608768	Spinocerebellar ataxia 8	10192387
ENSG00000123066	MED13L	14638541	608808	Transposition of the great arteries, dextro-looped 1	8957507
ENSG00000164946	FREM1	19732862	608980	Bifid nose with or without anorectal and renal anomalies	11822703
ENSG00000134755	DSC2	18957847	610476	Arrhythmogenic right ventricular dysplasia 11 	12392835
ENSG00000278570	NR2E3	17564971	611131	Retinitis pigmentosa 37	10655056
ENSG00000159197	KCNE2	15368194	611493	Atrial fibrillation, familial, 4	9070470
ENSG00000182533	CAV3	17060380	611818	Long QT syndrome 9	10220144
ENSG00000105974	CAV1	18211975	612526	Lipodystrophy, congenital generalized, type 3	11739396
ENSG00000100416	TRMU	19732863	613070	Liver failure, transient infantile	12408186
ENSG00000146733	PSPH	14673469	614023	Phosphoserine phosphatase deficiency	9222972
ENSG00000151849	CENPJ	20522431	613676	Seckel syndrome 4	Faivre, L., Le Merrer, M., Lyonnet, S., Plauchu, H., Dagoneau, N., Campos-Xavier, A. B., Attia-Sobol, J., Verloes, A., Munnich, A., Cormier-Daire, V. Clinical and genetic heterogeneity of Seckel syndrome. Am. J. Med. Genet. 112: 369-383, 2002.
ENSG00000198951	NAGA	8782044	609241	Schindler disease, type III	Schindler, D., Bishop, D. F., Wallace, S., Wolfe, D. E., Desnick, R. J. Characterization of alpha-N-acetylgalactosaminidase deficiency: a new neurodegenerative lysosomal disease. (Abstract) Pediat. Res. 23: 333A only, 1988.
ENSG00000244045	TMEM199	26833330	616829	Congenital disorder of glycosylation, type Iip	19067230
ENSG00000038382	TRIO	26721934	617061	Mental retardation, autosomal dominant 44	18388777
ENSG00000142186	SCYL1	26581903	616719	Spinocerebellar ataxia, autosomal recessive 	17571074
ENSG00000163754	GYG1	25272951	616199	Polyglucosan body myopathy 2	17106730
ENSG00000143318	CASQ1	25116801	616231	Myopathy, vacuolar, with CASQ1 aggregates	16714317
ENSG00000188467	SLC24A5	23364476	113750	Albinism, oculocutaneous, type VI	16357253
ENSG00000070610	GBA2	23332916	614409	Spastic paraplegia 46, autosomal recessive	16550933
ENSG00000152784	PRDM8	22961547	616640	Epilepsy, progressive myoclonic, 10	15304597
ENSG00000121552	CSTA	21944047	607936	Peeling skin syndrome 4	12890214
ENSG00000173402	DAG1	21388311	613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	14678799
ENSG00000234438	KBTBD13	21109227	609273	Nemaline myopathy 6, autosomal dominant	11731279
ENSG00000139131	YARS2	20598274	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	12075011
ENSG00000170374	SP7	20579626	613849	Osteogenesis imperfecta, type XII	11792318
ENSG00000174469	CNTNAP2	19896112	610042	Pitt-Hopkins like syndrome 1	11568923
ENSG00000239900	ADSL	1302001	103050	Adenylosuccinase deficiency	6150139
ENSG00000073282	TP63	11528512	103285	ADULT syndrome	8456838
ENSG00000118271	TTR	1979335	145680	Dystransthyretinemic hyperthyroxinemia	6287778
ENSG00000106571	GLI3	9054938	146510	Pallister-Hall syndrome	2596511
ENSG00000106617	PRKAG2	1587727	261740	Glycogen storage disease of heart, lethal congenital	6424667
ENSG00000196924	FLNA	17632775	300321	FG syndrome 2	10449643
ENSG00000067177	PHKA1	7874115	300559	Muscle glycogenosis 	3083284
ENSG00000125675	GRIA3	17989220	300699	Mental retardation, X-linked 94	10644433
ENSG00000145362	ANK2	12571597	600919	Cardiac arrhythmia, ankyrin-B-related	7485162
ENSG00000145362	ANK2	12571597	600919	Long QT syndrome 4	7485162
ENSG00000036828	CASR	12241879	601198	Hypocalcemia, autosomal dominant, with Bartter syndrome 	7874174
ENSG00000162337	LRP5	15024691	601813	Exudative vitreoretinopathy 4 	8832721
ENSG00000073282	TP63	11462173	603543	Limb-mammary syndrome	8456838
ENSG00000164961	WASHC5	17160902	603563	Spastic paraplegia 8, autosomal dominant	9973294
ENSG00000128881	TTBK2	18037885	604432	Spinocerebellar ataxia 11 	10417284
ENSG00000179520	SLC17A8	18674745	605583	Deafness, autosomal dominant 25	11115382
ENSG00000108556	CHRNE	7531341	605809	Myasthenic syndrome, congenital, 4A, slow-channel	3651795
ENSG00000104055	TGM5	16380904	609796	Peeling skin syndrome 2	9126018
ENSG00000169344	UMOD	14570709	609886	Glomerulocystic kidney disease with hyperuricemia and isosthenuria	7723240
ENSG00000127914	AKAP9	18093912	611820	Long QT syndrome-11	10220144
ENSG00000168615	ADAM9	19409519	612775	Cone-rod dystrophy 9 	11581183
ENSG00000177807	KCNJ10	19289823	612780	SESAME syndrome 	11466414
ENSG00000183010	PYCR1	19576563	612940	Cutis laxa, autosomal recessive, type IIB	11424136
ENSG00000175294	CATSPER1	19344877	612997	Spermatogenic failure 7 	11595941
ENSG00000118762	PKD2	8650545	613095	Polycystic kidney disease 2	2843768
ENSG00000162676	GFI1	12778173	613107	Neutropenia, severe congenital 2, autosomal dominant	7789186
ENSG00000123700	KCNJ2	15922306	613980	Atrial fibrillation, familial, 9	9070470
ENSG00000185818	NAT8L	19807691	614063	N-acetylaspartate deficiency	11310630
ENSG00000146070	PLA2G7	8675689	614278	Platelet-activating factor acetylhydrolase deficiency	3198761
ENSG00000088682	COQ9	19375058	614654	Coenzyme Q10 deficiency, primary, 5	11562630
ENSG00000188157	AGRN	19631309	615120	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects	11323662
ENSG00000025796	SEC63	15133510	617004	Polycystic liver disease 2 	8591848
ENSG00000163956	LRPAP1	23830514	615431	Myopia 23, autosomal recessive	Kaiser, P. K., Friedman, N. J., Pineda, R., II. The Massachusetts Eye and Ear Infirmary Illustrated Manual of Ophthalmology. Vol. 2. Philadelphia : Saunders , 2004. P. 457.
ENSG00000164306	PRIMPOL	23579484	615420	Myopia 22, autosomal dominant	Kaiser, P. K., Friedman, N. J., Pineda, R., II. The Massachusetts Eye and Ear Infirmary Illustrated Manual of Ophthalmology. Vol. 2. Philadelphia : Saunders , 2004. P. 457.
ENSG00000081051	AFP	7684942	615970	[Hereditary persistence of alpha-fetoprotein] 	Ferguson-Smith, M. A., May, H. M., Aitken, D. A., O'Hare, E., Yates, J. R. W., Gallagher, J., Krumlauf, R., Tilghman, S. M. Hereditary persistence of alphafetoprotein (HPAFP); linkage studies with chromosome 4 markers. (Abstract) Cytogenet. Cell Genet. 37: 469, 1984.
ENSG00000205678	TECRL	27861123	614021	Ventricular tachycardia, catecholaminergic polymorphic, 3	17666061
ENSG00000186790	FOXE3	27218149	612968	Cataract 34, multiple types	17893665
ENSG00000114956	DGUOK	26874653	617068	Portal hypertension, noncirrhotic	17452231
ENSG00000111581	NUP107	26411495	616730	Nephrotic syndrome, type 11	16968734
ENSG00000160285	LSS	26200341	616509	Cataract 44	16440058
ENSG00000102580	DNAJC3	25466870	616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	15793246
ENSG00000095485	CWF19L1	25361784	616127	Spinocerebellar ataxia, autosomal recessive 17	15981765
ENSG00000112782	CLIC5	24781754	616042	?Deafness, autosomal recessive 103	17021174
ENSG00000113494	PRLR	24195502	615555	Hyperprolactinemia	15218000
ENSG00000050030	NEXMIF	23615299	300912	Mental retardation, X-linked 98	15466006
ENSG00000166340	TPP1	23418007	609270	Spinocerebellar ataxia, autosomal recessive 7	15520412
ENSG00000078579	FGF20	22698282	615721	Renal hypodysplasia/aplasia 2	12694239
ENSG00000060762	MPC1	22628558	614741	Mitochondrial pyruvate carrier deficiency	12649063
ENSG00000091262	ABCC6	22209248	614473	Arterial calcification, generalized, of infancy, 2	12881724
ENSG00000207695	MIR184	21996275	614303	EDICT syndrome	11874753
ENSG00000111199	TRPV4	21964574	606835	Digital arthropathy-brachydactyly, familial	11891693
ENSG00000203908	KHDC3L	21885028	614293	Hydatidiform mole, recurrent, 2	11932746
ENSG00000163453	IGFBP7	21835307	614224	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis	12441727
ENSG00000166037	CEP57	21552266	614114	Mosaic variegated aneuploidy syndrome 2	12116237
ENSG00000092054	MYH7	15322983	160500	Laing distal myopathy	7847377
ENSG00000106031	HOXA13	11968094	176305	Guttmacher syndrome	8484413
ENSG00000185245	GP1BA	2052556	177820	von Willebrand disease, platelet-type	6798442
ENSG00000106348	IMPDH1	11875050	180105	Retinitis pigmentosa 10	8513323
ENSG00000234906	APOC2	3467353	207750	Hyperlipoproteinemia, type Ib	565877
ENSG00000178919	FOXE1	9697705	241850	Bamforth-Lazarus syndrome	2918525
ENSG00000198689	SLC9A6	18342287	300243	Mental retardation, X-linked syndromic, Christianson type	10528855
ENSG00000130385	BMP15	15136966	300510	Ovarian dysgenesis 2 	7553856
ENSG00000130385	BMP15	15136966	300510	Premature ovarian failure 4 	7553856
ENSG00000125351	UPF3B	17704778	300676	Mental retardation, X-linked, syndromic 14	9805132
ENSG00000105357	MYH14	15015131	600652	Deafness, autosomal dominant 4A	7655461
ENSG00000167434	CA4	15090652	600852	Retinitis pigmentosa 17 	7581389
ENSG00000116133	DHCR24	11519011	602398	Desmosterolosis	1642277
ENSG00000149418	ST14	17273967	602400	Ichthyosis, congenital, autosomal recessive 11	9450882
ENSG00000155657	TTN	10053013	603689	Myopathy, proximal, with early respiratory muscle involvement	2376753
ENSG00000128656	CHN1	18653847	604356	Duane retraction syndrome 2	10577917
ENSG00000204267	TAP2	7517574	604571	Bare lymphocyte syndrome, type I, due to TAP2 deficiency	3891604
ENSG00000156515	HK1	19536174	605285	Neuropathy, hereditary motor and sensory, Russe type	10915613
ENSG00000163703	CRELD1	12632326	606217	Atrioventricular septal defect, partial, with heterotaxy syndrome	7951234
ENSG00000095397	WHRN	12833159	607084	Deafness, autosomal recessive 31	8088814
ENSG00000269900	RMRP	16252239	607095	Anauxetic dysplasia 	8723091
ENSG00000120708	TGFBI	9054935	607541	Corneal dystrophy, Avellino type	3278259
ENSG00000103126	AXIN1	12376942	607864	Caudal duplication anomaly	8213674
ENSG00000007062	PROM1	18654668	608051	Macular dystrophy retinal 2 	10205271
ENSG00000107815	TWNK	11431692	609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	1634620
ENSG00000169313	P2RY12	11196645	609821	Bleeding disorder, platelet-type, 8	1333302
ENSG00000137285	TUBB2B	19465910	610031	Polymicrogyria, symmetric or asymmetric	10891642
ENSG00000162552	WNT4	18179883	611812	SERKAL syndrome	9989404
ENSG00000130037	KCNA5	16772329	612240	Atrial fibrillation, familial, 7	9070470
ENSG00000101400	SNTA1	18591664	612955	Long QT syndrome 12 	10220144
ENSG00000136931	NR5A1	19246354	612964	Premature ovarian failure 7	11038323
ENSG00000159251	ACTC1	17611253	613424	Left ventricular noncompaction 4	9563954
ENSG00000196565	HBG2	2483933	613977	Cyanosis, transient neonatal	6158500
ENSG00000183873	SCN5A	16684018	614022	Atrial fibrillation, familial, 10	9070470
ENSG00000166035	LIPC	1883393	614025	Hepatic lipase deficiency 	6961921
ENSG00000265107	GJA5	16790700	614049	Atrial fibrillation, familial, 11	9070470
ENSG00000133703	KRAS	16474404	615278	Cardiofaciocutaneous syndrome 2 	9272711
ENSG00000139540	SLC39A5	24891338	615946	Myopia 24, autosomal dominant	Kaiser, P. K., Friedman, N. J., Pineda, R., II. The Massachusetts Eye and Ear Infirmary Illustrated Manual of Ophthalmology. Vol. 2. Philadelphia: Saunders. 2004. P. 457.
ENSG00000267534	S1PR2	26805784	610419	Deafness, autosomal recessive 68	16703383
ENSG00000124587	PEX6	26387595	616617	Heimler syndrome 2	16530715
ENSG00000174996	KLC2	26385635	609541	Spastic paraplegia, optic atrophy, and neuropathy	15852396
ENSG00000139197	PEX5	26220973	616716	Rhizomelic chondrodysplasia punctata, type 5	15679822
ENSG00000185507	IRF7	25814066	616345	Immunodeficiency 39	15800576
ENSG00000151617	EDNRA	25772936	616367	Mandibulofacial dysostosis with alopecia, 	16116593
ENSG00000146038	DCDC2	25601850	610212	?Deafness, autosomal recessive 66	16244493
ENSG00000152795	HNRNPDL	24647604	609115	Muscular dystrophy, limb-girdle, type 1G	15367920
ENSG00000276045	ORAI1	24591628	615883	Myopathy, tubular aggregate, 2	15452313
ENSG00000164742	ADCY1	24482543	610154	Deafness, autosomal recessive 44	15583425
ENSG00000161217	PCYT1A	24387990	608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	15326626
ENSG00000166558	SLC38A8	24045842	609218	Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis	15466012
ENSG00000198286	CARD11	23561803	615206	Immunodeficiency 11	12818158
ENSG00000123066	MED13L	23403903	616789	Mental retardation and distinctive facial features with or without cardiac defects	14638541
ENSG00000198286	CARD11	23374270	615206	Immunodeficiency 11	12818158
ENSG00000157856	DRC1	23354437	615294	Ciliary dyskinesia, primary	12746204
ENSG00000119681	LTBP2	22539340	614819	Weill-Marchesani syndrome 3, recessive	11941487
ENSG00000101773	RBBP8	21998596	606744	Seckel syndrome 2 	11781686
ENSG00000163170	BOLA3	21944046	614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	11156534
ENSG00000099246	RAB18	21473985	614222	Warburg micro syndrome 3 	11237903
ENSG00000094804	CDC6	21358632	613805	Meier-Gorlin syndrome 5	11477602
ENSG00000115947	ORC4	21358632	613800	Meier-Gorlin syndrome 2	11477602
ENSG00000167513	CDT1	21358632	613804	Meier-Gorlin syndrome 4 	11477602
ENSG00000099797	TECR	21212097	614020	Mental retardation, autosomal recessive 14	11590547
ENSG00000162065	TBC1D24	20727515	605021	Myoclonic epilepsy, infantile, familial	10741954
ENSG00000154856	APCDD1	20393562	605389	Hypotrichosis 1	10878665
ENSG00000155961	RAB39B	20159109	300271	Mental retardation, X-linked 72	11050621
ENSG00000107882	SUFU	10969942	155255	Medulloblastoma, desmoplastic	1979050
ENSG00000164610	RP9	12032732	180104	Retinitis pigmentosa 9	1427827
ENSG00000160789	LMNA	10080180	181350	Emery-Dreifuss muscular dystrophy 2, AD	2685312
ENSG00000234906	APOC2	3225819	207750	Hyperlipoproteinemia, type Ib	565877
ENSG00000164172	MOCS2	10053004	252160	Molybdenum cofactor deficiency B	2522104
ENSG00000111424	VDR	2849209	277440	Rickets, vitamin D-resistant, type IIA	205789
ENSG00000004848	ARX	12379852	300215	Hydranencephaly with abnormal genitalia	1605226
ENSG00000004848	ARX	12379852	300215	Lissencephaly, X-linked 2	1605226
ENSG00000147180	ZNF711	19377476	300803	Mental retardation, X-linked 97	10398247
ENSG00000186104	CYP2R1	15128933	600081	Rickets due to defect in vitamin D 25-hydroxylation	8201479
ENSG00000188107	EYS	18510646	602772	Retinitis pigmentosa 25	9585594
ENSG00000170876	TMEM43	18313022	604400	Arrhythmogenic right ventricular dysplasia 5	9860777
ENSG00000077498	TYR	6770679	606952	Albinism, oculocutaneous, type IB	5516239
ENSG00000125779	PANK2	12058097	607236	HARP syndrome	1734303
ENSG00000057294	PKP2	15489853	609040	Arrhythmogenic right ventricular dysplasia 9	8142187
ENSG00000107779	BMPR1A	16525031	610069	Polyposis syndrome, hereditary mixed, 2	8644741
ENSG00000163933	RFT1	18313027	612015	Congenital disorder of glycosylation, type In	9516657
ENSG00000068078	FGFR3	7493034	612247	Crouzon syndrome with acanthosis nigricans 	3894462
ENSG00000134333	LDHA	2334430	612933	Glycogen storage disease XI	7449146
ENSG00000130714	POMT1	16575835	613155	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1	8879654
ENSG00000175197	DDIT3	8913727	613488	Myxoid liposarcoma 	3955533
ENSG00000169432	SCN9A	19763161	613863	Epilepsy, generalized, with febrile seizures plus, type 7	10514109
ENSG00000169432	SCN9A	19763161	613863	Febrile seizures, familial, 3B	10514109
ENSG00000010610	CD4	1961196	613949	OKT4 epitope deficiency 	6790623
ENSG00000010610	CD4	1708753	613949	OKT4 epitope deficiency 	6790623
ENSG00000126231	PROZ	15626740	614024	Protein Z deficiency	7495103
ENSG00000175899	A2M	2475424	614036	Alpha-2-macroglobulin deficiency 	94459
ENSG00000069431	ABCC9	17245405	614050	Atrial fibrillation, familial, 12	9070470
ENSG00000172638	EFEMP2	16685658	614437	Cutis laxa, autosomal recessive, type IB	8985490
ENSG00000072682	P4HA2	25741866	617238	Myopia 25, autosomal dominant	Kaiser, P. K., Friedman, N. J., Pineda, R., II. The Massachusetts Eye and Ear Infirmary Illustrated Manual of Ophthalmology. Vol. 2. Philadelphia: Saunders 2004. P. 457.
ENSG00000137070	IL11RA	21741611	614188	Craniosynostosis and dental anomalies	Cohen, M. M., Jr., MacLean, R. E. Craniosynostosis: Diagnosis, Evaluation, and Management. (2nd ed.) New York: Oxford Univ. Press (pub.) 2000. P. 412.
ENSG00000132386	SERPINF1	21353196	613982	Osteogenesis imperfecta, type VI	Ward, L. M., Lalic, L., Lalic, R., Roughley, P., Rauch, F., Plotkin, H., Travers, R., Glorieux, F. H. The clinical, molecular and histological heterogeneity of type IV osteogenesis imperfecta. (Abstract) J. Bone Miner. Res. 15: S163 only, 2000.
ENSG00000151779	NBAS	20577004	614800	Short stature, optic nerve atrophy, and Pelger-Huet anomaly	Nogovitsina, A. N., Maximova, N. R., Khandy, M. V., Alexeeva, S. P. Monogenic hereditary diseases in families consulted in Medical Genetic Department of National Center of Medicine of Republic of Sakha in 1990-1998. Far East. Med. J. 1: 17-21, 1999. Note: Article in Russian.
ENSG00000158887	MPZ	8816708	605253	Neuropathy, congenital hypomyelinating	Harati, Y., Butler, I. J. Congenital hypomyelinating neuropathy. J. Neurol. Neurosurg. Psych. 48: 1269-1276, 1985.
ENSG00000104884	ERCC2	7849702	278730	Xeroderma pigmentosum, group D	Moshell, A. N., Ganges, M. B., Lutzner, M. A., Coon, H. G., Barrett, S. F., Dupuy, J. M., Robbins, J. H. A new patient with both xeroderma pigmentosum and Cockayne syndrome establishes the new xeroderma pigmentosum complementation group H. In: Friedberg, E. C.; Bridges, B. A. (eds.): Cellular Responses to DNA Damage. New York: Alan R. Liss (pub.) 1983. Pp. 209-213.
ENSG00000021852	C8B	8098723	613789	C8 deficiency, type II	Marcus, D., Spira, T. J., Petersen, B. H., Raum, D., Alper, C. A. There are two unlinked genetic loci for human C8. (Abstract) Molec. Immun. 19: 1385 only, 1982.
ENSG00000224389	C4B	7451653	614379	C4B deficiency	Torisu, M., Sonozaki, H., Inai, S., Arata, M. Deficiency of the fourth component of complement in man. J. Immunogenet. 104: 728-737, 1970.
ENSG00000244731	C4A	7451653	614380	C4a deficiency	Torisu, M., Sonozaki, H., Inai, S., Arata, M. Deficiency of the fourth component of complement in man. J. Immunogenet. 104: 728-737, 1970.
ENSG00000164885	CDK5	25560765	616342	Lissencephaly 7 with cerebellar hypoplasia	15067135
ENSG00000185129	PURA	25439098	616158	Mental retardation, autosomal dominant 31	12972605
ENSG00000010072	SPRTN	25261934	616200	Ruijs-Aalfs syndrome 	12503110
ENSG00000141252	VPS53	24577744	615851	Pontocerebellar hypoplasia, type 2E	12920088
ENSG00000173402	DAG1	24052401	616538	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9	12140559
ENSG00000185825	BCAP31	24011989	300475	Deafness, dystonia, and cerebral hypomyelination	11992258
ENSG00000102452	NALCN	23749988	615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	12558119
ENSG00000104833	TUBB4A	23582646	612438	Leukodystrophy, hypomyelinating, 6	12372733
ENSG00000112053	SLC26A8	23582645	606766	Spermatogenic failure 3	11935327
ENSG00000122566	HNRNPA2B1	23455423	615422	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2	11891683
ENSG00000160602	NEK8	23418306	615415	Renal-hepatic-pancreatic dysplasia 2	12421721
ENSG00000187848	P2RX2	23345450	608224	Deafness, autosomal dominant 41	12161595
ENSG00000163932	PRKCD	23319571	615559	Autoimmune lymphoproliferative syndrome, type III	11976687
ENSG00000171385	KCND3	23280837	607346	Spinocerebellar ataxia 19	11284128
ENSG00000120071	KANSL1	22544367	610443	Koolen-De Vries syndrome	11237021
ENSG00000105974	CAV1	22474227	615343	Pulmonary hypertension, primary, 3	11498544
ENSG00000113448	PDE4D	22464250	614613	Acrodysostosis 2, with or without hormone resistance	11200992
ENSG00000163820	FYCO1	21636066	610019	Cataract 18, autosomal recessive	11006246
ENSG00000204020	LIPN	21439540	613943	Ichthyosis, congenital, autosomal recessive 8	10712205
ENSG00000170484	KRT74	21188418	613981	Hypotrichosis 3	10793007
ENSG00000154227	CERS3	21093221	615023	Ichthyosis, congenital, autosomal recessive 9	10712205
ENSG00000164619	BMPER	20869035	608022	Diaphanospondylodysostosis 	10457849
ENSG00000107796	ACTA2	20734336	613834	Multisystemic smooth muscle dysfunction syndrome	10532176
ENSG00000170264	FAM161A	20705278	606068	Retinitis pigmentosa 28	10507729
ENSG00000121680	PEX16	20647552	614877	Peroxisome biogenesis disorder 8B	10573465
ENSG00000103995	CEP152	20598275	614852	Microcephaly 9, primary, autosomal recessive	10521316
ENSG00000120457	KCNJ5	20560207	613485	Long QT syndrome 13	10220144
ENSG00000160882	CYP11B1	1731223	103900	Aldosteronism, glucocorticoid-remediable	6268977
ENSG00000160882	CYP11B1	1472060	103900	Aldosteronism, glucocorticoid-remediable	6268977
ENSG00000149131	SERPING1	7883978	120790	Complement component 4, partial deficiency of	6480834
ENSG00000135903	PAX3	7942851	122880	Craniofacial-deafness-hand syndrome	6859126
ENSG00000105409	ATP1A3	15260953	128235	Dystonia-12	8255463
ENSG00000160789	LMNA	10814726	159001	Muscular dystrophy, limb-girdle, type 1B	2685312
ENSG00000131979	GCH1	7869202	233910	Hyperphenylalaninemia, BH4-deficient, B	6734669
ENSG00000073578	SDHA	7550341	252011	Mitochondrial respiratory chain complex II deficiency	6318158
ENSG00000133835	HSD17B4	9345094	261515	D-bifunctional protein deficiency	2868085
ENSG00000167711	SERPINF2	2572590	262850	Alpha-2-plasmin inhibitor deficiency 	82839
ENSG00000181830	SLC35C1	11326280	266265	Congenital disorder of glycosylation, type Iic	1699667
ENSG00000181830	SLC35C1	11326279	266265	Congenital disorder of glycosylation, type Iic	1699667
ENSG00000175595	ERCC4	8797827	278760	Xeroderma pigmentosum, group F	3834095
ENSG00000182372	CLN8	15024724	600143	Ceroid lipofuscinosis, neuronal, 8	7683855
ENSG00000110711	AIP	16728643	600634	Pituitary adenoma, prolactin-secreting	7621566
ENSG00000198734	F5	9245936	600880	Budd-Chiari syndrome	3949113
ENSG00000134769	DTNA	11238270	604169	Left ventricular noncompaction 1, with or without congenital heart defects	2372897
ENSG00000091483	FH	8200987	606812	Fumarase deficiency 	6616883
ENSG00000084073	ZMPSTE24	12913070	608612	Mandibuloacral dysplasia with type B lipodystrophy	1642279
ENSG00000155657	TTN	12145747	608807	Muscular dystrophy, limb-girdle, type 2J	1745277
ENSG00000155380	SLC16A1	12502513	610021	Hyperinsulinemic hypoglycemia, familial, 7	1358043
ENSG00000169946	ZFPM2	16103912	610187	Diaphragmatic hernia 3	7815446
ENSG00000175206	NPPA	18614783	612201	Atrial fibrillation, familial, 6	9070470
ENSG00000184500	PROS1	7545463	612336	Thrombophilia due to protein S deficiency, autosomal dominant	6239102
ENSG00000026297	RNASET2	19525954	612951	Leukoencephalopathy, cystic, without megalencephaly	9810556
ENSG00000111319	SCNN1A	19462466	613021	Bronchiectasis with or without elevated sweat chloride 2	9654209
ENSG00000173894	CBX2	19361780	613080	46XY sex reversal 5	9641679
ENSG00000113905	HRG	9414276	613116	Thrombophilia due to elevated HRG	3689697
ENSG00000113905	HRG	9414276	613116	Thrombophilia due to HRG deficiency	3689697
ENSG00000116031	CD207	15816828	613393	Birbeck granule deficiency	7798619
ENSG00000172037	LAMB2	16912710	614199	Nephrotic syndrome, type 5, with or without ocular abnormalities	7670489
ENSG00000197408	CYP2B6	15622315	614546	Efavirenz, poor metabolism of	8432525
ENSG00000160789	LMNA	10739764	616516	Emery-Dreifuss muscular dystrophy 3, AR	2685312
ENSG00000070182	SPTB	8102379	616649	Spherocytosis, type 2	6215583
ENSG00000166147	FBN1	20979188	616914	Marfan lipodystrophy syndrome 	Verloes, A., Pierard, G., Lombet, J., De Paepe, A. Congenital progeroid-marfanoid syndrome: variant of Wiedemann-Rautenstrauch or new syndrome? (Abstract) Proc. Greenwood Genet. Center 17: 103-104, 1998.
ENSG00000132326	PER2	11232563	604348	Advanced sleep phase syndrome, familial, 1	Singer, C. M., Lewy, A. J. Use of the dim light melatonin onset in the treatment of ASPS with bright light. Sleep Res. 18: 445, 1989.
ENSG00000157184	CPT2	11477613	608836	CPT II deficiency, lethal neonatal	Hug, G., Soukup, S., Berry, H., Bove, K. Carnitine palmityl transferase (CPT): deficiency of CPT II but not of CPT I with reduced total and free carnitine but increased acylcarnitine. (Abstract) Pediat. Res. 25 (suppl.): 115A only, 1989.
ENSG00000160255	ITGB2	2880869	116920	Leukocyte adhesion deficiency	Niethammer, D., Dieterle, U., Kleihauer, E., Wildfeuer, A., Haferkamp, O., Hitzig, W. H. An inherited defect in granulocyte function: impaired chemotaxis, phagocytosis and intracellular killing of microorganisms. Helv. Paediat. Acta 30: 537-541, 1975.
ENSG00000143373	ZNF687	26849110	616833	Paget disease of bone 6	15123951
ENSG00000197256	KANK2	24671081	616099	Palmoplantar keratoderma and woolly hair	11874502
ENSG00000114859	CLCN2	23707145	615651	Leukoencephalopathy with ataxia	11250895
ENSG00000064419	TNPO3	23667635	608423	Muscular dystrophy, limb-girdle, type 1F	11222786
ENSG00000064419	TNPO3	23543484	608423	Muscular dystrophy, limb-girdle, type 1F	11222786
ENSG00000134343	ANO3	23200863	615034	Dystonia 24	11009204
ENSG00000185803	SLC52A2	22740598	614707	Brown-Vialetto-Van Laere syndrome 2	10797435
ENSG00000107371	EXOSC3	22544365	614678	Pontocerebellar hypoplasia, type 1B	11020648
ENSG00000167646	DNAAF3	22387996	606763	Ciliary dyskinesia, primary, 2	10745040
ENSG00000196660	SLC30A10	22341972	613280	Hypermanganesemia with dystonia 1 	11040156
ENSG00000180316	PNPLA1	22246504	615024	Ichthyosis, congenital, autosomal recessive 10	10712205
ENSG00000125744	RTN2	22232211	604805	Spastic paraplegia 12, autosomal dominant	10677333
ENSG00000131873	CHSY1	21129728	605282	Temtamy preaxial brachydactyly syndrome 	9823490
ENSG00000185002	RFX6	20148032	615710	Mitchell-Riley syndrome	9677074
ENSG00000104133	SPG11	20110243	602099	Amyotrophic lateral sclerosis 5, juvenile	9933301
ENSG00000171714	ANO5	20096397	613319	Miyoshi muscular dystrophy 3 	9673985
ENSG00000018625	ATP1A2	15174025	104290	Alternating hemiplegia of childhood	1361034
ENSG00000114270	COL7A1	9406826	131705	Transient bullous of the newborn	3901931
ENSG00000141655	TNFRSF11A	10615125	174810	Osteolysis, familial expansile	3346299
ENSG00000183691	NOG	12089654	184460	Stapes ankylosis with broad thumb and toes	2319886
ENSG00000068078	FGFR3	7773297	187601	Thanatophoric dysplasia, type II	6683076
ENSG00000110400	NECTIN1	10932188	225060	Orofacial cleft 7	2845087
ENSG00000269900	RMRP	11940090	250460	Metaphyseal dysplasia without hypotrichosis	2277385
ENSG00000125741	OPA3	11668429	258501	3-methylglutaconic aciduria, type III	2494568
ENSG00000164708	PGAM2	8447317	261670	Glycogen storage disease X	6262916
ENSG00000130948	HSD17B3	6310248	264300	Pseudohermaphroditism, male, with gynecomastia	4252809
ENSG00000004848	ARX	14722918	300004	Proud syndrome 	1605226
ENSG00000102144	PGK1	6933565	300653	Phosphoglycerate kinase 1 deficiency 	4230542
ENSG00000022267	FHL1	18179901	300695	Scapuloperoneal myopathy, X-linked dominant	8619529
ENSG00000262919	CCNQ	18297069	300707	STAR syndrome	8818947
ENSG00000171365	CLCN5	9062355	308990	Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis	4006335
ENSG00000068438	FTSJ1	15162322	309549	Mental retardation, X-linked 9/44	1605215
ENSG00000115839	RAB3GAP1	15696165	600118	Warburg micro syndrome 1	8249951
ENSG00000173898	SPTBN2	16429157	600224	Spinocerebellar ataxia 5 	7874171
ENSG00000091622	PITPNM3	17377520	600977	Cone-rod dystrophy 5 	8586428
ENSG00000178802	MPI	9525984	602579	Congenital disorder of glycosylation, type Ib	3080572
ENSG00000131931	THAP1	19182804	602629	Dystonia 6, torsion	9382482
ENSG00000203782	LOR	8673107	604117	Vohwinkel syndrome with ichthyosis	6237617
ENSG00000104133	SPG11	17322883	604360	Spastic paraplegia 11, autosomal recessive	7561945
ENSG00000073282	TP63	10839977	605289	Split-hand/foot malformation 4 	3366140
ENSG00000169696	ASPSCR1	11244503	606243	Alveolar soft-part sarcoma 	2642727
ENSG00000133020	MYH8	15282353	608837	Carney complex variant 	1600999
ENSG00000118194	TNNT2	16651346	612422	Cardiomyopathy, familial restrictive, 3	8205619
ENSG00000149781	FERMT3	19234463	612840	Leukocyte adhesion deficiency, type III	9312170
ENSG00000105711	SCN1B	19808477	615377	Atrial fibrillation, familial, 13	9070470
ENSG00000149575	SCN2B	19808477	615378	Atrial fibrillation, familial, 14	9070470
ENSG00000151729	SLC25A4	16155110	615418	Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR	8479824
ENSG00000163631	ALB	8064810	615999	Dysalbuminemic hyperthyroxinemia	6806311
ENSG00000165917	RAPSN	11791205	616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	2245297
ENSG00000139219	COL2A1	15930420	608805	Avascular necrosis of the femoral head	Atsumi, T., Kuroki, Y. Role of impairment of blood supply of the femoral head in the pathogenesis of idiopathic osteonecrosis. Clin. Orthop. 277: 22-30, 1992.
ENSG00000122877	EGR2	9537424	605253	Neuropathy, congenital hypomyelinating, 1	Harati, Y., Butler, I. J. Congenital hypomyelinating neuropathy. J. Neurol. Neurosurg. Psych. 48: 1269-1276, 1985.
ENSG00000196517	SLC6A9	27481395	617301	Glycine encephalopathy with normal serum glycine	14622582
ENSG00000184979	USP18	27325888	617397	Pseudo-TORCH syndrome 2	12833411
ENSG00000142867	BCL10	25365219	616098	Immunodeficiency 37	11163238
ENSG00000099365	STX1B	25362483	616172	Generalized epilepsy with febrile seizures plus, type 9	11591834
ENSG00000205090	TMEM240	25070513	607454	Spinocerebellar ataxia 21	11160961
ENSG00000158526	TSR2	24942156	300946	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis	11424144
ENSG00000158055	GRHL3	24360809	606713	Van der Woude syndrome 2	11781685
ENSG00000138002	IFT172	24140113	615630	Short-rib thoracic dysplasia 10 with or without polydactyly	11030072
ENSG00000274286	ADRA2B	24114805	607876	Epilepsy, myoclonic, familial adult, 2	11701600
ENSG00000117650	NEK2	24043777	615565	Retinitis pigmentosa 67	10932196
ENSG00000119699	TGFB3	23824657	615582	Loeys-Dietz syndrome 5	10807574
ENSG00000100075	SLC25A1	23561848	615182	Combined D-2- and L-2-hydroxyglutaric aciduria 	10963100
ENSG00000162065	TBC1D24	23343562	615338	Epileptic encephalopathy, early infantile	10741954
ENSG00000078401	EDN1	23315542	615706	Auriculocondylar syndrome 3	11045585
ENSG00000137812	KNL1	22983954	604321	Microcephaly 4, primary, autosomal recessive	10521316
ENSG00000114354	TFG	22883144	604484	Hereditary motor and sensory neuropathy, Okinawa type	10545038
ENSG00000129757	CDKN1C	22634751	614732	IMAGE syndrome	10599684
ENSG00000100288	CHKB	21665002	602541	Muscular dystrophy, congenital, megaconial type	9427222
ENSG00000162769	FLVCR1	21070897	609033	Ataxia, posterior column, with retinitis pigmentosa	9409377
ENSG00000121957	GPSM2	20602914	604213	Chudley-McCullough syndrome	9024571
ENSG00000187049	TMEM216	20036350	608091	Joubert syndrome 2	9373798
ENSG00000165474	GJB2	10633135	148350	Keratoderma, palmoplantar, with deafness	2956987
ENSG00000137731	FXYD2	11062458	154020	Hypomagnesemia 2, renal	3298795
ENSG00000198400	NTRK1	10443680	155240	Medullary thyroid carcinoma, familial	3697657
ENSG00000137074	APTX	11586299	208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	3239952
ENSG00000160801	PTH1R	9649554	215045	Chondrodysplasia, Blomstrand type	3975110
ENSG00000091409	ITGA6	7545057	226730	Epidermolysis bullosa, junctional, with pyloric stenosis	6177243
ENSG00000132470	ITGB4	7545057	226730	Epidermolysis bullosa, junctional, with pyloric atresia	6177243
ENSG00000169071	ROR2	10932186	268310	Robinow syndrome, autosomal recessive	3631143
ENSG00000015285	WAS	11242115	300299	Neutropenia, severe congenital, X-linked	3284030
ENSG00000102001	CACNA1F	16505158	300476	Cone-rod dystrophy, X-linked, 3	8288262
ENSG00000165288	BRWD3	17668385	300659	Mental retardation, X-linked 93	7943039
ENSG00000022267	FHL1	18274675	300718	Reducing body myopathy, X-linked 1b, with late childhood or adult onset	7709723
ENSG00000091536	MYO15A	17851452	600316	Deafness, autosomal recessive 3	7704031
ENSG00000100697	DICER1	19556464	601200	Pleuropulmonary blastoma 	8636815
ENSG00000168056	LTBP3	19344874	601216	Dental anomalies and short stature 	8721563
ENSG00000105755	ETHE1	14732903	602473	Ethylmalonic encephalopathy	1683940
ENSG00000119718	EIF2B2	11704758	603896	Ovarioleukodystrophy	3239951
ENSG00000145191	EIF2B5	11704758	603896	Ovarioleukodystrophy	3239951
ENSG00000164266	SPINK1	12011155	608189	Tropical calcific pancreatitis	2813331
ENSG00000168263	KCNV2	16909397	610356	Retinal cone dystrophy 3B	8333273
ENSG00000171105	INSR	2544998	610549	Diabetes mellitus, insulin-resistant, with acanthosis nigricans	176581
ENSG00000169218	RSPO1	17072299	610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal	8475082
ENSG00000169218	RSPO1	17041600	610644	Palmoplantar hyperkeratosis and true hermaphroditism	8475082
ENSG00000185920	PTCH1	11941477	610828	Holoprosencephaly 7	2688166
ENSG00000151067	CACNA1C	15655131	611875	Brugada syndrome 3 	1309182
ENSG00000119392	GLE1	18204449	611890	Arthrogryposis, lethal, with anterior horn cell disease	7821908
ENSG00000276045	ORAI1	16582901	612782	Immunodeficiency 9 	8167687
ENSG00000167323	STIM1	19420366	612783	Immunodeficiency 10	8921403
ENSG00000257017	HP	9463309	614081	Anhaptoglobinemia	3981086
ENSG00000257017	HP	9463309	614081	Hypohaptoglobinemia	3981086
ENSG00000211592	IGKC	3931219	614102	Kappa light chain deficiency	4117311
ENSG00000014919	COX15	12474143	615119	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 	2175025
ENSG00000109911	ELP4	17679951	617141	Aniridia 2	8032206
ENSG00000136068	FLNB	14991055	108721	Atelosteogenesis, type III	2368807
ENSG00000116957	TBCE	12389028	241410	Hypoparathyroidism-retardation-dysmorphism syndrome	Sanjad, S., Sakati, N., Abu-Osba, Y. Congenital hypoparathyroidism with dysmorphic features: a new syndrome. (Abstract) Pediat. Res. 23: 271A, 1988.
ENSG00000151090	THRB	2510172	188570	Thyroid hormone resistance	Lamberg, B. A., Sandstrom, R., Rosegard, S., Saarinen, P., Evered, D. C. Sporadic and familial partial peripheral resistance to thyroid hormones.In: Harland, W. A.; Orr, J. S. : Thyroid Hormone Metabolism. London: Academic Press (pub.) 1975. Pp. 139-161.
ENSG00000105141	CASP14	27494380	617320	Ichthyosis, congenital, autosomal recessive 12	12780701
ENSG00000062598	ELMO2	27476657	606893	Vascular malformation, primary intraosseous	11932989
ENSG00000112312	GMNN	26637980	616835	Meier-Gorlin syndrome 6	11477602
ENSG00000197467	COL13A1	26626625	616720	Myasthenic syndrome, congenital, 19	11583983
ENSG00000109320	NFKB1	26279205	616576	Immunodeficiency, common variable, 12	11583829
ENSG00000015532	XYLT2	26027496	605822	Spondyloocular syndrome 	11260210
ENSG00000104365	IKBKB	24369075	615592	Immunodeficiency 15	10195897
ENSG00000176022	B3GALT6	23664117	615349	Ehlers-Danlos syndrome, progeroid type, 2	10506123
ENSG00000131174	COX7B	23122588	300887	Linear skin defects with multiple congenital anomalies 2	9747372
ENSG00000105647	PIK3R2	22729224	603387	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	9788554
ENSG00000166813	KIF7	22587682	607131	Al-Gazali-Bakalinova syndrome	9689990
ENSG00000167371	PRRT2	22120146	602066	Convulsions, familial infantile, with paroxysmal choreoathetosis	9382100
ENSG00000179855	GIPC3	21326233	601869	Deafness, autosomal recessive 15	9286457
ENSG00000157540	DYRK1A	21294719	614104	Mental retardation, autosomal dominant 7	9106547
ENSG00000100368	CSF2RB	21075760	614370	Surfactant metabolism dysfunction, pulmonary, 5	9410898
ENSG00000186847	KRT14	16960809	125595	Dermatopathia pigmentosa reticularis,	1303619
ENSG00000244734	HBB	1186896	141749	Hereditary persistence of fetal hemoglobin	14006447
ENSG00000081479	LRP2	17632512	222448	Donnai-Barrow syndrome	8266995
ENSG00000124275	MTRR	9501215	236270	Homocystinuria-megaloblastic anemia, cbl E type	6511919
ENSG00000160957	RECQL4	12952869	266280	RAPADILINO syndrome 	2801769
ENSG00000108733	PEX12	15184617	266510	Peroxisome biogenesis disorder 3B	2122101
ENSG00000159640	ACE	9350819	267430	Renal tubular dysgenesis	6638071
ENSG00000044090	CUL7	16142236	273750	3-M syndrome 1	2051454
ENSG00000154767	XPC	8298653	278720	Xeroderma pigmentosum, group C	487635
ENSG00000086758	HUWE1	18252223	300706	Mental retardation, X-linked syndromic, Turner type	7943042
ENSG00000085224	ATRX	7697714	301040	Alpha-thalassemia/mental retardation syndrome	6267462
ENSG00000131269	ABCB7	10196363	301310	Anemia, sideroblastic, with ataxia	4045952
ENSG00000147224	PRPS1	17701896	301835	Arts syndrome 	8498830
ENSG00000010671	BTK	8013627	307200	Agammaglobulinemia and isolated hormone deficiency 	7189577
ENSG00000004848	ARX	11889467	309510	Partington syndrome	3177452
ENSG00000125378	BMP4	19249007	600625	Orofacial cleft 11	8533798
ENSG00000173801	JUP	10902626	601214	Naxos disease 	2945574
ENSG00000159216	RUNX1	10508512	601399	Platelet disorder, familial, with associated myeloid malignancy	3855665
ENSG00000111361	EIF2B1	11835386	603896	Leukoencephalopathy with vanishing white matter	3239951
ENSG00000171862	PTEN	15805158	605309	Macrocephaly/autism syndrome	1719811
ENSG00000015479	MATR3	19344878	606070	Amyotrophic lateral sclerosis 	7847377
ENSG00000205336	ADGRG1	15044805	606854	Polymicrogyria, bilateral frontoparietal	2290486
ENSG00000140522	RLBP1	11868161	607476	Newfoundland rod-cone dystrophy 	3377008
ENSG00000149925	ALDOA	2825199	611881	Glycogen storage disease XII	4788792
ENSG00000178235	SLITRK1	16224024	613229	Trichotillomania	2018177
ENSG00000101444	AHCY	15024124	613752	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	2380820
ENSG00000135517	MIP	10802646	615274	Cataract 15, multiple types	3456204
ENSG00000116748	AMPD1	1631143	615511	Myopathy due to myoadenylate deaminase deficiency	644316
ENSG00000081051	AFP	15280901	615969	Alpha-fetoprotein deficiency 	Faucett, W. A., Greenberg, F., Rose, E., Alpert, E., Bancalari, L., Kardon, N. B., Mizjewski, G., Knight, G., Haddow, J. E. Congenital deficiency of alpha-fetoprotein. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A259, 1989.
ENSG00000145715	RASA1	14639529	608354	Capillary malformation-arteriovenous malformation	Mulliken, J. B., Young, A. E. (eds.). Vascular Birthmarks: Hemangiomas and Vascular Malformations. Philadelphia: W. B. Saunders Co. 1988.
ENSG00000159267	HLCS	7842009	253270	Holocarboxylase synthetase deficiency	Saunders, M., Sweetman, L., Robinson, B., Roth, K., Kohn, S., Sherwood, G., Gravel, R. Multiple carboxylase defects and complementation studies in biotin responsive organicaciduria. (Abstract) Am. J. Hum. Genet. 31: 61A, 1979.
ENSG00000174611	KY	27484770	617114	Myopathy, myofibrillar, 7	11136708
ENSG00000183763	TRAIP	26595769	616777	Seckel syndrome 9	11424145
ENSG00000143365	RORC	26160376	616622	Immunodeficiency 42	10963675
ENSG00000147955	SIGMAR1	26078401	605726	Spinal muscular atrophy, distal, autosomal recessive, 2	11117544
ENSG00000147274	RBMX	25256757	300238	Mental retardation, X-linked, syndromic 11, Shashi type	10677307
ENSG00000133937	GSC	24290375	602471	Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities	9475592
ENSG00000182004	SNRPE	23246290	615059	Hypotrichosis 11	9621144
ENSG00000157423	HYDIN	23022101	608647	Ciliary dyskinesia, primary, 5	9387968
ENSG00000165195	PIGA	22305531	300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	9307258
ENSG00000167371	PRRT2	22243967	605751	Seizures, benign familial infantile, 2	9579893
ENSG00000091482	SMPX	21549336	300066	Deafness, X-linked 4	8872482
ENSG00000120008	WDR11	20887964	614858	Hypogonadotropic hypogonadism 14 with or without anosmia	8825924
ENSG00000196839	ADA	6198631	102700	Severe combined immunodeficiency due to ADA deficiency	5366284
ENSG00000129991	TNNI3	12531876	115210	Cardiomyopathy, familial restrictive, 1	2977941
ENSG00000275410	HNF1B	9398836	137920	Renal cysts and diabetes syndrome	7151342
ENSG00000087237	CETP	2215607	143470	Hyperalphalipoproteinemia	171539
ENSG00000007372	PAX6	7668281	148190	Keratitis	7362501
ENSG00000100345	MYH9	10973259	153640	Fechtner syndrome	2981587
ENSG00000184058	TBX1	8733128	192430	Velocardiofacial syndrome	7243439
ENSG00000072778	ACADVL	7668252	201475	VLCAD deficiency 	6774167
ENSG00000143815	LBR	12618959	215140	Greenberg skeletal dysplasia	3377005
ENSG00000130283	GDF1	14585638	217095	Double-outlet right ventricle	3341225
ENSG00000180053	NKX2-6	14585638	217095	Conotruncal heart malformations	3341225
ENSG00000183072	NKX2-5	14585638	217095	Conotruncal heart malformations, variable	3341225
ENSG00000182173	TSEN54	18711368	225753	Pontocerebellar hypoplasia type 4	8480512
ENSG00000122787	AKR1D1	12970144	235555	Bile acid synthesis defect, congenital, 2	3198770
ENSG00000150768	DLAT	16049940	245348	Pyruvate dehydrogenase E2 deficiency	2112155
ENSG00000110921	MVK	10369262	260920	Hyper-IgD syndrome2	6144826
ENSG00000110921	MVK	10369261	260920	Hyper-IgD syndrome2	6144826
ENSG00000151552	QDPR	2116088	261630	Hyperphenylalaninemia, BH4-deficient, C	49470
ENSG00000185960	SHOX	9140395	300582	Short stature, idiopathic familial	6954848
ENSG00000185960	SHOX	9140395	300582	Short stature, idiopathic familial	6954848
ENSG00000102145	GATA1	16783379	300835	Anemia, X-linked, with/without neutropenia and/or platelet abnormalities	1999341
ENSG00000177189	RPS6KA3	10319851	300844	Mental retardation, X-linked 19	6146889
ENSG00000004961	HCCS	16059943	309801	Linear skin defects with multiple congenital anomalies 1 	2308157
ENSG00000126759	CFP	8530058	312060	Properdin deficiency, X-linked	6903190
ENSG00000091137	SLC26A4	9500541	600791	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct	6602318
ENSG00000135443	KRT85	16525032	602032	Ectodermal dysplasia 4, hair/nail type	1879585
ENSG00000115211	EIF2B4	14566705	603896	Ovarioleukodystrophy	3239951
ENSG00000142192	APP	2111584	605714	Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants	1190293
ENSG00000157766	ACAN	16080123	608361	Spondyloepiphyseal dysplasia, Kimberley type	1978986
ENSG00000017427	IGF1	8857020	608747	Growth retardation with deafness and mental retardation due to IGF1 deficiency	7024810
ENSG00000000971	CFH	9312129	609814	Complement factor H deficiency	6461667
ENSG00000152642	GPD1L	17967977	611777	Brugada syndrome 2	1309182
ENSG00000165995	CACNB2	17224476	611876	Brugada syndrome 4 	1309182
ENSG00000170892	TSEN34	18711368	612390	Pontocerebellar hypoplasia type 2C	8147499
ENSG00000183044	ABAT	10407778	613163	GABA-transaminase deficiency	6148708
ENSG00000007314	SCN4A	10599760	613345	Hypokalemic periodic paralysis type 2 	6325904
ENSG00000137869	CYP19A1	8265607	613546	Aromatase deficiency 	162557
ENSG00000119711	ALDH6A1	10947204	614105	Methylmalonate semialdehyde dehydrogenase deficiency	3939535
ENSG00000136574	GATA4	17643447	614430	Atrioventricular septal defect 4 	1534968
ENSG00000184500	PROS1	10063989	614514	Thrombophilia due to protein S deficiency, autosomal recessive	6239877
ENSG00000113580	NR3C1	1704018	615962	Glucocorticoid resistance	186477
ENSG00000157131	C8A	9759902	613790	C8 deficiency, type I	Marcus, D., Spira, T. J., Petersen, B. H., Raum, D., Alper, C. A. There are two unlinked genetic loci for human C8. (Abstract) Molec. Immun. 19: 1385 only, 1982.
ENSG00000122966	CIT	27453578	617090	Microcephaly 17, primary, autosomal recessive	11086988
ENSG00000135341	MAP3K7	27426733	617137	Frontometaphyseal dysplasia 2 	10706363
ENSG00000113013	HSPA9	26598328	616854	Even-plus syndrome	10424819
ENSG00000166341	DCHS1	26258302	607829	Mitral valve prolapse 2	10387935
ENSG00000107404	DVL1	25817016	616331	Robinow syndrome, autosomal dominant 2	10319206
ENSG00000205899	BHLHA9	25466284	609432	Syndactyly, mesoaxial synostotic, with phalangeal reduction	9783716
ENSG00000186073	C15orf41	23716552	615631	Dyserythropoietic anemia, congenital, type Ib	9220189
ENSG00000120094	HOXB1	22770981	614744	Facial paresis, hereditary congenital, 3	8898234
ENSG00000169599	NFU1	21944046	605711	Multiple mitochondrial dysfunctions syndrome 1	7606932
ENSG00000165078	CPA6	21922598	614418	Febrile seizures, familial, 11	8730286
ENSG00000130816	DNMT1	21532572	614116	Neuropathy, hereditary sensory, type IE	7898717
ENSG00000213892	CEACAM16	21368133	614614	Deafness, autosomal dominant 4B	7655461
ENSG00000111199	TRPV4	20037588	606071	Hereditary motor and sensory neuropathy, type Iic	8179305
ENSG00000203883	SOX18	12740761	137940	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	3435166
ENSG00000112619	PRPH2	8251014	169150	Macular dystrophy, patterned, 1	843272
ENSG00000124299	PEPD	1972707	170100	Prolidase deficiency	4828441
ENSG00000167207	NOD2	11528384	186580	Blau syndrome	4056967
ENSG00000077782	FGFR1	11173846	190440	Trigonocephaly 1	6741996
ENSG00000091140	DLD	8506365	246900	Dihydrolipoamide dehydrogenase deficiency	413089
ENSG00000092330	TINF2	18252230	268130	Revesz syndrome 	1404302
ENSG00000162733	DDR2	19110212	271665	Spondylometaepiphyseal dysplasia, short limb-hand type	8434618
ENSG00000188641	DPYD	7832988	274270	5-fluorouracil toxicity, Dihydropyrimidine dehydrogenase deficiency	287571
ENSG00000169297	NR0B1	7951319	300018	46XY sex reversal 2, dosage-sensitive	567843
ENSG00000085224	ATRX	8630485	309580	Mental retardation-hypotonic facies syndrome, X-linked	6107045
ENSG00000036473	OTC	2983225	311250	Ornithine transcarbamylase deficiency	5779425
ENSG00000127980	PEX1	9398847	601539	Peroxisome biogenesis disorder 1B (NALD/IRD)	7287005
ENSG00000115414	FN1	18268355	601894	Glomerulopathy with fibronectin deposits 2	1544672
ENSG00000119509	INVS	12872123	602088	Nephronophthisis 2, infantile	2884728
ENSG00000070785	EIF2B3	15054402	603896	Leukoencephalopathy with vanishing white matter 	3239951
ENSG00000115211	EIF2B4	15054402	603896	Leukoencephaly with vanishing white matter	3239951
ENSG00000244734	HBB	2563949	603902	Thalassemia-beta, dominant inclusion-body	4351905
ENSG00000007168	PAFAH1B1	11754098	607432	Lissencephaly 1 	3744365
ENSG00000007168	PAFAH1B1	11754098	607432	Subcortical laminar heterotopia 	3744365
ENSG00000162337	LRP5	12579474	607634	Osteopetrosis, autosomal dominant 1	3588909
ENSG00000117595	IRF6	18836445	608864	Orofacial cleft 6	1642245
ENSG00000184937	WT1	17853480	608978	Meacham syndrome	1844355
ENSG00000177697	CD151	15265795	609057	Nephropathy with pretibial epidermolysis bullosa and deafness	3412548
ENSG00000120729	MYOT	15111675	609200	Myopathy, myofibrillar, 3	3275904
ENSG00000163161	ERCC3	2167179	610651	Xeroderma pigmentosum, group B	4811796
ENSG00000186895	FGF3	17236138	610706	Deafness, congenital with inner ear agenesis, microtia, and microdontia	2044484
ENSG00000105711	SCN1B	18464934	612838	Brugada syndrome 5	1309182
ENSG00000105711	SCN1B	18464934	612838	Cardiac conduction defect, nonspecific	1309182
ENSG00000156873	PHKG2	8896567	613027	Glycogen storage disease Ixc	6931596
ENSG00000064835	POU1F1	1302000	613038	Pituitary hormone deficiency, combined, 1	1271194
ENSG00000175538	KCNE3	19122847	613119	Brugada syndrome 6 	1309182
ENSG00000177469	CAVIN1	19726876	613327	Lipodystrophy, congenital generalized, type 4	8313629
ENSG00000167114	SLC27A4	19631310	608649	Ichthyosis prematurity syndrome 	Anton-Lamprecht, I. The skin.In: Papadimitriou, J. M.; Henderson, D. W.; Spagnolo, D. V. (eds.) : Diagnostic Ultrastructure of Non-neoplastic Diseases. Edinburgh: Churchill Livingstone 1992. Pp. 459-550.
ENSG00000053747	LAMA3	12915477	245660	Laryngoonychocutaneous syndrome	Shabbir, G., Hassan, M., Kazmi, A. Laryngo-onycho-cutaneous syndrome: a study of 22 cases. Biomedica 2: 15-25, 1986.
ENSG00000107815	TWNK	12459258	271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	Kallio, A.-K., Jauhiainen, T. A new syndrome of ophthalmoplegia, hypoacusis, ataxia, hypotonia and athetosis (OHAHA). Adv. Audiol. 3: 84-90, 1985.
ENSG00000150787	PTS	8178819	261640	Hyperphenylalaninemia, BH4-deficient, A	Rey, F., Harpey, J.-P., Leeming, R. J., Blair, J. A., Aicardi, J., Rey, J. Les hyperphenylalaninemies avec activite normale de la phenylalanine-hydroxylase: le deficit en tetrahydrobiopterine et le deficit en dihydropteridine reductase. Arch. Franc. Pediat. 34 (suppl. 2): 109-120, 1977.
ENSG00000205899	BHLHA9	27041388	607539	Camptosynpolydactyly, complex	10096595
ENSG00000059573	ALDH18A1	26320891	616603	Cutis laxa, autosomal dominant 3	9643297
ENSG00000101194	SLC17A9	25180256	616063	Porokeratosis 8, disseminated superficial actinic type	9188872
ENSG00000138346	DNA2	24389050	615807	Seckel syndrome 8	9128935
ENSG00000130489	SCO2	23643385	608908	Myopia 6 	9021311
ENSG00000111678	C12orf57	23453665	218340	Temtamy syndrome	8818452
ENSG00000107147	KCNT1	23086397	614959	Epileptic encephalopathy, early infantile, 14	7555952
ENSG00000198690	FAN1	22772369	614817	Interstitial nephritis, karyomegalic	7847351
ENSG00000046651	OFD1	22619378	300424	Retinitis pigmentosa 23	7611300
ENSG00000214960	ISPD	22522420	614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	7604843
ENSG00000141527	CARD14	22521418	602723	Psoriasis 2	7562968
ENSG00000145675	PIK3R1	22351933	615214	Agammaglobulinemia 7, autosomal recessive	7705412
ENSG00000130816	DNMT1	22328086	604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	8747854
ENSG00000108883	EFTUD2	22305528	610536	Mandibulofacial dysostosis, Guion-Almeida type	7586653
ENSG00000141448	GATA6	22158542	600001	Pancreatic agenesis and congenital heart defects 	8071961
ENSG00000147955	SIGMAR1	21842496	614373	Amyotrophic lateral sclerosis 16 juvenile	7807156
ENSG00000176715	ACSF3	21841779	614265	Combined malonic and methylmalonic aciduria	7537025
ENSG00000134569	LRP4	21471202	614305	Sclerosteosis 2	7891385
ENSG00000091651	ORC6	21358632	613803	Meier-Gorlin syndrome 3 	7710253
ENSG00000109846	CRYAB	21337604	613869	Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related	8000975
ENSG00000127616	SMARCA4	20137775	613325	Rhabdoid tumor predisposition syndrome 2 	8269278
ENSG00000166257	SCN3B	20031595	613120	Brugada syndrome 7 	1309182
ENSG00000196839	ADA	3007108	102700	Adenosine deaminase deficiency, partial	5366284
ENSG00000175445	LPL	1975179	144250	Combined hyperlipidemia, familial	4718953
ENSG00000130675	MNX1	9843207	176450	Currarino syndrome	6789651
ENSG00000104447	TRPS1	11112658	190351	Trichorhinophalangeal syndrome, type III	6517098
ENSG00000149311	ATM	7792600	208900	Ataxia-telangiectasia	651946
ENSG00000164692	COL1A2	15077201	225320	Ehlers-Danlos syndrome, cardiac valvular form	2952379
ENSG00000170266	GLB1	1909089	230650	GM1-gangliosidosis, type III	4139552
ENSG00000170266	GLB1	1907800	230650	GM1-gangliosidosis, type III	4139552
ENSG00000137700	SLC37A4	9428641	232240	Glycogen storage disease Ic	6253473
ENSG00000104320	NBN	9590181	251260	Nijmegen breakage syndrome	7315300
ENSG00000104320	NBN	9590180	251260	Nijmegen breakage syndrome	7315300
ENSG00000110090	CPT1A	9691089	255120	CPT deficiency, hepatic, type IA	7014807
ENSG00000163554	SPTA1	1541680	266140	Pyropoikilocytosis	1191563
ENSG00000112294	ALDH5A1	9683595	271980	Succinic semialdehyde dehydrogenase deficiency	7226548
ENSG00000114374	USP9Y	8269511	415000	Spermatogenic failure, Y-linked, 2	1002136
ENSG00000134376	CRB1	10508521	600105	Retinitis pigmentosa-12, autosomal recessive	7055539
ENSG00000130402	ACTN4	10700177	603278	Glomerulosclerosis, focal segmental, 1	6229501
ENSG00000173085	COQ2	16400613	607426	Coenzyme Q10 deficiency, primary, 1	2928337
ENSG00000170099	SERPINA6	7061486	611489	Corticosteroid-binding globulin deficiency	14320983
ENSG00000115718	PROC	10942114	612304	Thrombophilia due to protein C deficiency, autosomal recessive	6139528
ENSG00000137674	MMP20	15744043	612529	Amelogenesis imperfecta, type IIA2	3150442
ENSG00000172426	RSPH9	19200523	612650	Ciliary dyskinesia, primary, 12	1601418
ENSG00000151929	BAG3	19085932	612954	Myopathy, myofibrillar, 6	1517757
ENSG00000138622	HCN4	19165230	613123	Brugada syndrome 8 	1309182
ENSG00000198805	PNP	3029074	613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	5455521
ENSG00000113600	C9	9144525	613825	C9 deficiency	7430628
ENSG00000197766	CFD	11457876	613912	Complement factor D deficiency	6568950
ENSG00000171862	PTEN	11748304	276950	VATER association with macrocephaly and ventriculomegaly	Sujansky, E., Leonard, B. VACTERL association with hydrocephalus--a new recessive syndrome? (Abstract) Am. J. Hum. Genet. 35: 119A only, 1983
ENSG00000107165	TYRP1	8651291	203290	Albinism, oculocutaneous, type III	King, R. A., Cervenka, J., Okoro, A. N., Witkop, C. J., Jr. The brown albino: a new type of tyrosinase-positive oculocutaneous albinism. (Abstract) Am. J. Hum. Genet. 30: 56A only, 1978.
ENSG00000108064	TFAM	27448789	617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	9500544
ENSG00000113721	PDGFRB	26279204	601812	Premature aging syndrome, Penttinen type	9056558
ENSG00000160752	FDPS	26202976	616631	Porokeratosis 9, multiple types	9188872
ENSG00000167508	MVD	26202976	614714	Porokeratosis 7, multiple types	9188872
ENSG00000250479	CHCHD10	25193783	616209	Myopathy, isolated mitochondrial, autosomal dominant	9324076
ENSG00000105409	ATP1A3	24468074	601338	CAPOS syndrome	8733056
ENSG00000145868	FBXO38	24207122	615575	Neuronopathy, distal hereditary motor, type IID	7723957
ENSG00000152208	GRID2	23611888	616204	Spinocerebellar ataxia, autosomal recessive 18	7736576
ENSG00000100150	DEPDC5	23542697	604364	Epilepsy, familial focal, with variable foci 1	7895015
ENSG00000125826	RBCK1	23104095	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	7971833
ENSG00000152822	GRM1	22901947	614831	Spinocerebellar ataxia, autosomal recessive 13	7969468
ENSG00000277399	GPR179	22325361	614565	Night blindness, congenital stationary (complete), 1E, autosomal recessive	8088964
ENSG00000101773	RBBP8	21998596	251255	Jawad syndrome	8434622
ENSG00000138738	PRDM5	21664999	614170	Brittle cornea syndrome 2 	8458232
ENSG00000185811	IKZF1	21548011	616873	Immunodeficiency, common variable, 13	7923373
ENSG00000171453	POLR1C	21131976	248390	Treacher Collins syndrome 3	8362908
ENSG00000244486	SCARF2	20887961	600920	Van den Ende-Gupta syndrome	1609830
ENSG00000141448	GATA6	20581743	614474	Atrioventricular septal defect 5 	1534968
ENSG00000111199	TRPV4	20037587	181405	Scapuloperoneal spinal muscular atrophy	1520078
ENSG00000131979	GCH1	7874165	128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia	942621
ENSG00000151090	THRB	8381821	145650	Thyroid hormone resistance, selective pituitary	1159077
ENSG00000160789	LMNA	12927431	212112	Malouf syndrome	3993676
ENSG00000113889	KNG1	7901207	228960	Kininogen deficiency	1202089
ENSG00000114956	DGUOK	11687800	251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	6314875
ENSG00000177706	FAM20C	17924334	259775	Raine syndrome	2614802
ENSG00000186868	MAPT	11220749	260540	Supranuclear palsy, progressive atypical	6685236
ENSG00000259384	GH1	8552145	262650	Kowarski syndrome	263308
ENSG00000049860	HEXB	3017984	268800	Sandhoff disease, infantile, juvenile, and adult forms	5651108
ENSG00000198910	L1CAM	1303258	303350	MASA syndrome 	4855169
ENSG00000182287	AP1S2	19377476	304340	Mental retardation, X-linked syndromic 5	2018058
ENSG00000183873	SCN5A	15466643	601154	Cardiomyopathy, dilated, 1E	3953067
ENSG00000154118	JPH3	15468075	606438	Huntington disease-like 2	2942452
ENSG00000112592	TBP	10484774	607136	Spinocerebellar ataxia 17	6937161
ENSG00000134371	CDC73	14585940	608266	Parathyroid carcinoma	3985291
ENSG00000066279	ASPM	12355089	608716	Microcephaly 5, primary, autosomal recessive	6745946
ENSG00000138435	CHRNA1	10195214	608930	Myasthenic syndrome, congenital, 1B, fast-channel	7254233
ENSG00000166548	TK2	11687801	609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	6314875
ENSG00000198821	CD247	16672702	610163	Immunodeficiency 25	3262828
ENSG00000110921	MVK	12563048	610377	Mevalonic aciduria	4053401
ENSG00000205413	SAMD9	16960814	610455	Tumoral calcinosis, familial, normophosphatemic	3366131
ENSG00000119042	SATB2	17377962	612313	Glass syndrome	2918541
ENSG00000166947	EPB42	1558976	612690	Spherocytosis, type 5	4830746
ENSG00000131018	SYNE1	17761684	612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2685312
ENSG00000054654	SYNE2	17761684	612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2685312
ENSG00000113522	RAD50	19409520	613078	Nijmegen breakage syndrome-like disorder	1887849
ENSG00000125730	C3	1976733	613779	C3 deficiency	4117597
ENSG00000103005	USB1	20004881	604173	Poikiloderma with neutropenia	Clericuzio, C., Hoyme, H. E., Aase, J. M. Immune deficient poikiloderma: a new genodermatosis. (Abstract) Am. J. Hum. Genet. 49 (suppl.): 131 only, 1991.
ENSG00000049239	H6PD	12858176	604931	Cortisone reductase deficiency 1	Taylor, N. F., Bartlett, W. A., Dawson, D. J., Enoch, B. A. Cortisone reductase deficiency: evidence for a new inborn error in metabolism of adrenal steroids. (Abstract) J. Endocr. 102 (suppl.): A90, 1984.
ENSG00000119899	SLC17A5	10581036	269920	Sialic acid storage disorder, infantile	Aula, P., Autio, S. Salla disease. In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K.: Population Structure and Genetic Disorders. New York: Academic Press (pub.) 1980. Pp. 677-679.
ENSG00000139219	COL2A1	8723097	271700	Spondyloperipheral dysplasia 	Kelly, T. E., Lichtenstein, J. R., Dorst, J. P. An unusual familial spondyloepiphyseal dysplasia: 'spondyloperipheral dysplasia'. Birth Defects Orig. Art. Ser. XIII(3B): 149-165, 1977.
ENSG00000205420	KRT6A	7545493	615726	Pachyonychia congenita 3	Gorlin, R. J., Pindborg, J. J., Cohen, M. M., Jr. Syndromes of the Head and Neck. (2nd ed.) New York: McGraw-Hill (pub.) 1976. Pp. 600-603.
ENSG00000163374	YY1AP1	27939641	602531	Grange syndrome	9489789
ENSG00000095139	ARCN1	27476655	617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	9021021
ENSG00000059573	ALDH18A1	26026163	601162	Spastic paraplegia 9A, autosomal dominant	8779323
ENSG00000186472	PCLO	25832664	608027	Pontocerebellar hypoplasia, type 3	8912329
ENSG00000163599	CTLA4	25329329	616100	Autoimmune lymphoproliferative syndrome, type V	7481803
ENSG00000163599	CTLA4	25213377	616100	Autoimmune lymphoproliferative syndrome, type V	7481803
ENSG00000198363	ASPH	24768550	601552	Traboulsi syndrome	8749053
ENSG00000071564	TCF3	24216514	616941	Agammaglobulinemia 8, autosomal dominant	8001124
ENSG00000161798	AQP5	23830519	600231	Palmoplantar keratoderma, Bothnian type	7531539
ENSG00000135454	B4GALNT1	23746551	609195	Spastic paraplegia 26	7864052
ENSG00000185963	BICD2	23664116	615290	Spinal muscular atrophy, lower extremity-predominant, 2, AD	8114789
ENSG00000011275	RNF216	23656588	212840	Cerebellar ataxia and hypogonadotropic hypogonadism 	8114789
ENSG00000141404	GNAL	23222958	615073	Dystonia 25	8309575
ENSG00000080503	SMARCA2	22366787	601358	Nicolaides-Baraitser syndrome 	8287185
ENSG00000178394	HTR1A	21990073	614674	Periodic fever, menstrual cycle dependent	7684743
ENSG00000117394	SLC2A1	21832227	601042	Dystonia 9	1575453
ENSG00000171385	KCND3	21349352	616399	Brugada syndrome 9	1309182
ENSG00000105610	KLF1	21055716	613673	Dyserythropoietic anemia, congenital, type IV 	1659863
ENSG00000143217	NECTIN4	20691405	613573	Ectodermal dysplasia-syndactyly syndrome 1	1646587
ENSG00000144962	SPATA16	17847006	102530	Spermatogenic failure 6	3338587
ENSG00000074181	NOTCH3	8878478	125310	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1	906807
ENSG00000021574	SPAST	9302257	182601	Spastic paraplegia 4, autosomal dominant	703033
ENSG00000213689	TREX1	17660820	192315	Vasculopathy, retinal, with cerebral leukodystrophy	3174024
ENSG00000117054	ACADM	2393404	201450	Acyl-CoA dehydrogenase, medium chain, deficiency of	5567005
ENSG00000131844	MCCC2	11181649	210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	7128647
ENSG00000140650	PMM2	9140401	212065	Congenital disorder of glycosylation, type Ia	685730
ENSG00000197535	MYO5A	9207796	214450	Griscelli syndrome, type 1	707528
ENSG00000197746	PSAP	8554069	249900	Metachromatic leukodystrophy due to SAP-b deficiency	15613
ENSG00000090581	GNPTG	10712439	252605	Mucolipidosis III gamma	6461005
ENSG00000108379	WNT3	14872406	273395	Tetra-amelia syndrome	4076260
ENSG00000005893	LAMP2	10972294	300257	Danon disease 	6450334
ENSG00000022267	FHL1	18179888	300696	Emery-Dreifuss muscular dystrophy 6, X-linked	2685312
ENSG00000022267	FHL1	18179888	300696	Myopathy, X-linked, with postural muscle atrophy	2685312
ENSG00000157399	ARSE	7720070	302950	Chondrodysplasia punctata, X-linked recessive	993917
ENSG00000198814	GK	8651297	307030	Glycerol kinase deficiency 	200232
ENSG00000102081	FMR1	9719368	311360	Premature ovarian failure 1	499583
ENSG00000131828	PDHA1	2537010	312170	Pyruvate dehydrogenase E1-alpha deficiency	4313434
ENSG00000138435	CHRNA1	7619526	601462	Myasthenic syndrome, congenital, 1A, slow-channel	1011024
ENSG00000145191	EIF2B5	17646634	603896	Leukoencephalopathy with vanishing white matter	3239951
ENSG00000136531	SCN2A	12243921	607745	Seizures, benign familial infantile, 3	6660252
ENSG00000112619	PRPH2	8485576	608161	Macular dystrophy, vitelliform, 3	4142662
ENSG00000127948	POR	14758361	613571	Disordered steroidogenesis due to cytochrome P450 oxidoreductase	2932643
ENSG00000111716	LDHB	2334429	614128	Lactate dehydrogenase-B deficiency	5119336
ENSG00000198931	APRT	3680503	614723	Adenine phosphoribosyltransferase deficiency	5676523
ENSG00000175084	DES	9697706	601419	Myopathy, myofibrillar, 1	Clark, J. R., D'Agostino, A. N., Wilson, J., Brooks, R. R., Cole, G. C. Autosomal dominant myofibrillar inclusion body myopathy: clinical, histologic, histochemical, and ultrastructural characteristics. (Abstract) Neurology 28: 399 only, 1978.
ENSG00000168878	SFTPB	8163685	265120	Surfactant metabolism dysfunction, pulmonary, 1	Tsubura, E., Kawase, I., Yamamura, Y. Hereditary metabolic diseases of the lung. Rec. Med. 26: 1727 only, 1974. Note: Cited by: Webster et al.: Am. J. Med. 69: 786-789, 1980.
ENSG00000200463	SNORD118	27571260	614561	Leukoencephalopathy, brain calcifications, and cysts	8628470
ENSG00000184634	MED12	23395478	300895	Ohdo syndrome, X-linked	8279489
ENSG00000164087	POC1A	22840364	614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	1632447
ENSG00000115935	WIPF1	22231303	614493	Wiskott-Aldrich syndrome 2	1515642
ENSG00000111199	TRPV4	20503319	184095	SED, Maroteaux type	2229114
ENSG00000183287	CCBE1	19935664	235510	Hennekam lymphangiectasia-lymphedema syndrome 1	2624276
ENSG00000064195	DLX3	10466415	104510	Amelogenesis imperfecta, type IV	292959
ENSG00000186081	KRT5	8799157	131960	Epidermolysis bullosa simplex-MP	939040
ENSG00000139219	COL2A1	9800905	132450	Epiphyseal dysplasia, multiple, with myopia and deafness	699354
ENSG00000007372	PAX6	8640214	136520	Foveal hypoplasia 1	1247409
ENSG00000165731	RET	16205644	155240	Medullary thyroid carcinoma	3697657
ENSG00000075239	ACAT1	1715688	203750	Alpha-methylacetoacetic aciduria 	4143539
ENSG00000059377	TBXAS1	18264100	231095	Ghosal hematodiaphyseal syndrome	3385529
ENSG00000124615	MOCS1	9731530	252150	Molybdenum cofactor deficiency A	117254
ENSG00000005381	MPO	2462938	254600	Myeloperoxidase deficiency	5796360
ENSG00000196743	GM2A	1915858	272750	GM2-gangliosidosis, AB variant	5135907
ENSG00000156313	RPGR	10094550	300455	Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness	450098
ENSG00000147155	EBP	10391219	302960	Chondrodysplasia punctata, X-linked dominant	535904
ENSG00000147155	EBP	10391218	302960	Chondrodysplasia punctata, X-linked dominant	535904
ENSG00000198910	L1CAM	7920660	303350	CRASH syndrome 	4855169
ENSG00000198910	L1CAM	7920659	303350	CRASH syndrome 	4855169
ENSG00000119899	SLC17A5	10581036	604369	Salla disease	420628
ENSG00000159921	GNE	11528398	605820	Nonaka myopathy	7252518
ENSG00000131697	NPHP4	12244321	606966	Nephronophthisis 4 	7072145
ENSG00000030582	GRN	11220736	607485	Aphasia, primary progressive	7470845
ENSG00000030582	GRN	11220736	607485	Frontotemporal lobar degeneration with ubiquitin-positive inclusions	7470845
ENSG00000109846	CRYAB	9731540	608810	Myopathy, myofibrillar, 2	570292
ENSG00000138798	EGF	17671655	611718	Hypomagnesemia 4, renal	3436090
ENSG00000106992	AK1	2542324	612631	Hemolytic anemia due to adenylate kinase deficiency	4179026
ENSG00000148218	ALAD	2063868	612740	Porphyria, acute hepatic	4109097
ENSG00000102383	ZDHHC15	15915161	300577	Mental retardation, X-linked 91	Gustavson, K.-H., Anneren, G., Jagell, S. Prader-Willi syndrome in a child with a balanced (X;15) de novo translocation. Clin. Genet. 26: 245-247, 1984.
ENSG00000088305	DNMT3B	10647011	242860	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	Hulten, M. Selective somatic pairing and fragility at 1q12 in a boy with common variable immunodeficiency. (Abstract) Clin. Genet. 14: 294 only, 1978.
ENSG00000073734	ABCB11	9326328	601847	Cholestasis, progressive familial intrahepatic 2	Sandor, T., Surinya, M., Monus, Z. Familial occurrence of giant cell hepatitis in infancy. Acta Hepatogastroent. (Stuttg.) 23: 101-104, 1976.
ENSG00000125255	SLC10A2	9109432	613291	Bile acid malabsorption, primary	Hess Thaysen, E., Pedersen, L. Idiopathic bile acid catharis. Gut 17: 965-970, 1976.
ENSG00000147257	GPC3	8589713	312870	Simpson-Golabi-Behmel syndrome, type 1	Simpson, J. L., Landey, S., New, M., German, J. A previously unrecognized X-linked syndrome of dysmorphia. Birth Defects Orig. Art. Ser. XI(2): 18-24, 1975.
ENSG00000176387	HSD11B2	7670488	218030	Apparent mineralocorticoid excess	Werder, E. A., Zachmann, M., Vollmin, J. A., Veyrat, R., Prader, A. Unusual steroid excretion in a child with low renin hypertension. Res. Steroids 6: 385-389, 1974
ENSG00000105607	GCDH	8541831	231670	Glutaricaciduria, type I	Goodman, S. I., Moe, P. G., Markey, S. P. Glutaric aciduria: a 'new' inborn error of amino acid metabolism. (Abstract) Am. J. Hum. Genet. 26: 36A, 1974.
ENSG00000118520	ARG1	2365823	207800	Argininemia	Terheggen, H. G., Schwenk, A., Lowenthal, A., Van Sande, M., Colombo, J. P. Argininaemia with arginase deficiency. (Letter) Lancet 294: 748-749, 1969. Note: Originally Volume II.
ENSG00000179163	FUCA1	2903667	230000	Fucosidosis	Durand, P., Philippart, M., Borrone, C., Della Cella, G. A new glycolipid storage disease. (Abstract) Pediat. Res. 1: 416 only, 1967.
ENSG00000213398	LCAT	3338256	245900	Norum disease	Norum, K. R., Gjone, E. Familial plasma lecithin:cholesterol acyltransferase deficiency: biochemical study of a new inborn error of metabolism. Scand. J. Clin. Lab. Invest. 20: 231-243, 1967.
ENSG00000177565	TBL1XR1	26769062	602342	Pierpont syndrome 	7640861
ENSG00000067704	IARS2	25130867	616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	8409271
ENSG00000166341	DCHS1	24056717	601390	Van Maldergem syndrome 1	1633641
ENSG00000088256	GNA11	23802516	145981	Hypocalciuric hypercalcemia, type II	1517376
ENSG00000042753	AP2S1	23222959	600740	Hypocalciuric hypercalcemia, type III	1524075
ENSG00000187553	CYP26C1	23161670	614974	Focal facial dermal dysplasia 4	1401310
ENSG00000183638	RP1L1	20826268	613587	Occult macular dystrophy	2774037
ENSG00000132963	POMP	20226437	601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma	2521286
ENSG00000244734	HBB	6179097	141749	Delta-beta thalassemia	14006447
ENSG00000141510	TP53	1978757	151623	Li-Fraumeni syndrome	5360287
ENSG00000135111	TBX3	9207801	181450	Ulnar-mammary syndrome	991870
ENSG00000141837	CACNA1A	8988170	183086	Spinocerebellar ataxia 6	990897
ENSG00000197299	BLM	3808032	210900	Bloom syndrome 	5901336
ENSG00000197299	BLM	3808031	210900	Bloom syndrome 	5901336
ENSG00000158158	CNNM4	19200527	217080	Jalili syndrome	3236352
ENSG00000141448	GATA6	19666519	217095	Persistent truncus arteriosus 	3341225
ENSG00000104774	MAN2B1	9158146	248500	Mannosidosis, alpha-, types I and II	1008071
ENSG00000102805	CLN5	9662406	256731	Ceroid lipofuscinosis, neuronal, 5	193610
ENSG00000116704	SLC35D1	17952091	269250	Schneckenbecken dysplasia	3799723
ENSG00000154764	WNT7A	16826533	276820	Ulna and fibula, absence of, with severe limb deficiency	3981578
ENSG00000156313	RPGR	11857109	304020	Cone-rod dystrophy, X-linked, 1	6971088
ENSG00000160801	PTH1R	15525660	600002	Eiken syndrome	6734674
ENSG00000206561	COLQ	9689136	603034	Myasthenic syndrome, congenital, 5	214017
ENSG00000119718	EIF2B2	19625339	603896	Leukoencephalopathy with vanishing white matter	3239951
ENSG00000162711	NLRP3	12032915	607115	CINCA syndrome 	7252669
ENSG00000198467	TPM2	11738357	609285	CAP myopathy 2	7196531
ENSG00000198467	TPM2	11738357	609285	Nemaline myopathy 4, autosomal dominant	7196531
ENSG00000112936	C7	8892662	610102	C7 deficiency	1099121
ENSG00000112936	C7	8871666	610102	C7 deficiency	1099121
ENSG00000178209	PLEC	14675180	612138	Epidermolysis bullosa simplex with pyloric atresia	7136614
ENSG00000087460	GNAS	11788646	612462	Pseudohypoparathyroidism Ic 	6265935
ENSG00000181092	ADIPOQ	10918532	612556	Adiponectin deficiency	474565
ENSG00000111669	TPI1	2876430	615512	Hemolytic anemia due to triosephosphate isomerase deficiency	14242501
ENSG00000074047	GLI2	15994174	615849	Culler-Jones syndrome 	6726521
ENSG00000105722	ERF	23354439	600775	Craniosynostosis 4	McComb, J. G. Treatment of functional lambdoid synostosis. Neurosurg. Clin. North Am. 2: 665-672, 1991.
ENSG00000161653	NAGS	12594532	237310	N-acetylglutamate synthase deficiency	Bachmann, C., Colombo, J. P., Jaggi, K. N-acetylglutamate synthetase (NAGS) deficiency: diagnosis, clinical observations and treatment. Adv. Exp. Med. Biol. 153: 39-46, 1981.
ENSG00000086062	B4GALT1	11901181	607091	Congenital disorder of glycosylation, type Iid	Jaeken, J., Vanderschueren-Lodeweyckx, M., Casaer, P., Snoeck, L., Corbeel, L., Eggermont, E., Eeckels, R. Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome? (Abstract) Pediat. Res. (suppl.) 14: 179 only, 1980.
ENSG00000182858	ALG12	11983712	607143	Congenital disorder of glycosylation, type Ig	Jaeken, J., Vanderschueren-Lodeweyckx, M., Casaer, P., Snoeck, L., Corbeel, L., Eggermont, E., Eeckels, R. Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome? (Abstract) Pediat. Res. (suppl.) 14: 179 only, 1980.
ENSG00000008196	TFAP2B	10802654	169100	Char syndrome 	Char, F. Peculiar facies with short philtrum, duck-bill lips, ptosis and low-set ears--a new syndrome? Birth Defects Orig. Art. Ser. XIV 6B: 303-305, 1978.
ENSG00000196924	FLNA	9883725	300049	Heterotopia, periventricular	Nezelof, C., Jaubert, F., Lyon, G. Familial syndrome combining short small intestine, intestinal malrotation, pyloric hypertrophy and brain malformation. 3 anatomoclinical case reports. Ann. Anat. Path. (Paris) 21: 401-412, 1976.
ENSG00000073734	ABCB11	9806540	601847	Cholestasis, progressive familial intrahepatic 2	Sandor, T., Surinya, M., Monus, Z. Familial occurrence of giant cell hepatitis in infancy. Acta Hepatogastroent. (Stuttg.) 23: 101-104, 1976.
ENSG00000185479	KRT6B	9618173	615728	Pachyonychia congenita 4	Gorlin, R. J., Pindborg, J. J., Cohen, M. M., Jr. Syndromes of the Head and Neck. (2nd ed.) New York: McGraw-Hill (pub.) 1976. Pp. 600-603.
ENSG00000104313	EYA1	9020840	113650	Branchiootorenal syndrome 1, with or without cataracts	Melnick, M., Bixler, D., Silk, K., Yune, H., Nance, W. E. Autosomal dominant branchiootorenal dysplasia. Birth Defects Orig. Art. Ser. XI(5): 121-128, 1975.
ENSG00000186575	NF2	7798645	162091	Schwannomatosis	Niimura, M. Neurofibromatosis. Rinsho Derma 15: 653-663, 1973.
ENSG00000182492	BGN	27236923	300106	Spondyloepimetaphyseal dysplasia, X-linked	8064814
ENSG00000117724	CENPF	25564561	243605	Stromme syndrome	8261651
ENSG00000141759	TXNL4A	25434003	608572	Burn-McKeown syndrome 	1342861
ENSG00000148408	CACNA1B	25296916	614860	Dystonia 23	8232359
ENSG00000148400	NOTCH1	25132448	616028	Adams-Oliver syndrome 5 	1621771
ENSG00000196739	COL27A1	24986830	615155	Steel syndrome	8423186
ENSG00000113790	EHHADH	24401050	615605	Fanconi renotubular syndrome 3	1627757
ENSG00000141543	EIF4A3	24360810	268305	Robin sequence with cleft mandible and limb anomalies	1632438
ENSG00000149260	CAPN5	23055945	193235	Vitreoretinopathy, neovascular inflammatory	2234842
ENSG00000172534	HCFC1	23000143	309541	Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )	2378346
ENSG00000179348	GATA2	21670465	614172	Immunodeficiency 21	2543925
ENSG00000170876	TMEM43	21391237	614302	Emery-Dreifuss muscular dystrophy 7, AD	2685312
ENSG00000118004	COLEC11	21258343	265050	3MC syndrome 2	2569826
ENSG00000131183	SLC34A1	20335586	613388	Fanconi renotubular syndrome 2 	2842681
ENSG00000105392	CRX	9390563	120970	Cone-rod retinal dystrophy-2	1201699
ENSG00000138083	SIX3	10369266	157170	Holoprosencephaly 2	891015
ENSG00000165280	VCP	15034582	167320	Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1	7182974
ENSG00000148795	CYP17A1	2843762	202110	17-alpha-hydroxylase/17,20-lyase deficiency	4288776
ENSG00000213689	TREX1	16845398	225750	Aicardi-Goutieres syndrome 1, dominant and recessive	6712192
ENSG00000131808	FSHB	8220432	229070	Hypogonadotropic hypogonadism 24 without anosmia	5002675
ENSG00000051523	CYBA	2243141	233690	Chronic granulomatous disease, autosomal, due to deficiency of CYBA	4384563
ENSG00000164258	NDUFS4	9463323	252010	Mitochondrial complex I deficiency	947896
ENSG00000131238	PPT1	7637805	256730	Ceroid lipofuscinosis, neuronal, 1	4698309
ENSG00000183098	GPC6	19481194	258315	Omodysplasia 1	3591839
ENSG00000135744	AGT	16116425	267430	Renal tubular dysgenesis 	6638071
ENSG00000143839	REN	16116425	267430	Renal tubular dysgenesis 	6638071
ENSG00000144891	AGTR1	16116425	267430	Renal tubular dysgenesis 	6638071
ENSG00000151835	SACS	10655055	270550	Spastic ataxia, Charlevoix-Saguenay type	647499
ENSG00000134574	DDB2	8798680	278740	Xeroderma pigmentosum, group E, DDB-negative subtype	4842087
ENSG00000269335	IKBKG	11047757	300291	Ectodermal dysplasia, hypohidrotic, with immune deficiency	117248
ENSG00000170113	NIPA1	14508710	600363	Spastic paraplegia 6, autosomal dominant	7310405
ENSG00000152457	DCLRE1C	12055248	602450	Severe combined immunodeficiency, Athabascan type	6105560
ENSG00000069974	RAB27A	10835631	607624	Griscelli syndrome, type 2	707528
ENSG00000165409	TSHR	7920658	609152	Hyperthyroidism, nonautoimmune	5068321
ENSG00000139053	PDE6H	15629837	610024	Achromatopsia 6 	6601944
ENSG00000139053	PDE6H	15629837	610024	Retinal cone dystrophy 3 	6601944
ENSG00000136104	RNASEH2B	16845400	610181	Aicardi-Goutieres syndrome 2 	6712192
ENSG00000172922	RNASEH2C	16845400	610329	Aicardi-Goutieres syndrome 3 	6712192
ENSG00000104889	RNASEH2A	16845400	610333	Aicardi-Goutieres syndrome 4	6712192
ENSG00000039537	C6	8690922	612446	C6 deficiency 	11344568
ENSG00000272047	GTF2H5	15220921	616395	Trichothiodystrophy 3, photosensitive	7082576
ENSG00000213341	CHUK	20961246	613630	Cocoon syndrome 	Stevenson, R. E., Saul, R. A., Collins, J., Davis, W. M., Lanford, C. Cocoon fetus--fetal encasement secondary to ectodermal dysplasia. Proc. Greenwood Genet. Center 6: 10-15, 1987.
ENSG00000119699	TGFB3	15639475	107970	Arrhythmogenic right ventricular dysplasia 1	7053899
ENSG00000159063	ALG8	12480927	608104	Congenital disorder of glycosylation, type Ih	Jaeken, J., Vanderschueren-Lodeweyckx, M., Casaer, P., Snoeck, L., Corbeel, L., Eggermont, E., Eeckels, R. Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome? (Abstract) Pediat. Res. (suppl.) 14: 179 only, 1980.
ENSG00000134899	ERCC5	11228268	278780	Xeroderma pigmentosum, group G/Cockayne syndrome	Cheesbrough, M. J., Kinmont, P. D. S. Xeroderma pigmentosum--a unique variant with neurologic involvement. Brit. J. Derm. 99 (suppl. 16): 61 only, 1978.
ENSG00000198626	RYR2	11208676	604772	Ventricular tachycardia, catecholaminergic polymorphic, 1	Coumel, P., Fidelle, J., Lucet, V., Attuel, P., Bouvrain, Y. Catecholaminergic-induced severe ventricular arrhythmias with Adams-Stokes syndrome in children: report of four cases. Brit. Heart J. 40 (suppl.): 28-37, 1978.
ENSG00000144285	SCN1A	11359211	607208	Epileptic encephalopathy, early infantile, 6	Dravet, C. Les epilepsies graves de l'enfant. Vie Med 8: 543-548, 1978.
ENSG00000161610	HCRT	10973318	161400	Narcolepsy 1	Westphal, C. C. Eigenthumliche mit Einschafen verbundene Anfalle. Arch. Psychiat. Nervenkr. 7: 681-683, 1877.
ENSG00000073282	TP63	10535733	106260	Hay-Wells syndrome	Hay, R. J., Wells, R. S. The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition. Brit. J. Derm. 94: 287-289, 1976.
ENSG00000135960	EDAR	10431241	129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Zanier, J. H. M., Roubicek, M. M. Hypohidrotic ectodermal dysplasia with autosomal dominant transmission. (Abstract) 5th International Congress of Human Genetics, Mexico City 1976. P. 108.
ENSG00000004848	ARX	10353782	308350	Epileptic encephalopathy, early infantile, 1	Ohtahara, S., Ishida, T., Oka, E., Yamatogi, Y., Inoue, H., Karita, S., Ohtsuka, Y. On the specific age dependent epileptic syndrome: the early-infantile epileptic encephalopathy with suppression-burst. No to Hattatsu 8: 270-279, 1976. Note: Article in Japanese.
ENSG00000066468	FGFR2	9605588	207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	Antley, R. M., Bixler, D. Trapezoidocephaly, midface hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. Birth Defects Orig. Art. Ser. XI(2): 397-401, 1975.
ENSG00000157184	CPT2	8358442	255110	CPT II deficiency, myopathic, stress-induced	Bressler, R. Carnitine and the twins. (Editorial) New Eng. J. Med. 282: 745-746, 1970. [PubMed: 5416207, related citations] [Full Text]
ENSG00000139219	COL2A1	2543071	183900	SED congenita	Spranger, J. W., Wiedemann, H.-R. Dysplasia spondyloepiphysaria congenita. Helv. Paediat. Acta 21: 598-611, 1966.
ENSG00000095380	NANS	27213289	610442	Spondyloepimetaphyseal dysplasia, Camera-Genevieve type	8152878
ENSG00000125676	THOC2	26166480	300957	Mental retardation, X-linked 12/35	1605217
ENSG00000086848	ALG9	25966638	263210	Gillessen-Kaesbach-Nishimura syndrome 	8465860
ENSG00000143951	WDPCP	25427950	217085	Congenital heart defects, hamartomas of tongue, and polysyndactyly	1516223
ENSG00000175309	PHYKPL	23242558	615011	Phosphohydroxylysinuria	2387074
ENSG00000130741	EIF2S3	23063529	300987	Mental retardation, X-linked, syndromic, Borck type	2635712
ENSG00000136068	FLNB	14991055	112310	Boomerang dysplasia	7194471
ENSG00000107485	GATA3	10935639	146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia	874665
ENSG00000126522	ASL	7250970	207900	Argininosuccinic aciduria 	13503250
ENSG00000064490	RFXANK	11313409	209920	MHC class II deficiency, complementation group B	650344
ENSG00000120054	CPN1	12560874	212070	Carboxypeptidase N deficiency	7437116
ENSG00000170266	GLB1	1909089	230600	GM1-gangliosidosis, type II	4173446
ENSG00000170266	GLB1	1907800	230600	GM1-gangliosidosis, type II	4173446
ENSG00000146085	MUT	1977311	251000	Methylmalonic aciduria, mut(0) type	6061291
ENSG00000167792	NDUFV1	10080174	252010	Mitochondrial complex I deficiency	947896
ENSG00000135677	GNS	12573255	252940	Mucopolysaccharidosis type IIID	6450420
ENSG00000085998	POMGNT1	11709191	253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	581135
ENSG00000140443	IGF1R	14657428	270450	Insulin-like growth factor I, resistance to	6987254
ENSG00000185339	TCN2	7849710	275350	Transcobalamin II deficiency	5096637
ENSG00000137561	TTPA	2298915	277460	Ataxia with isolated vitamin E deficiency 	6079812
ENSG00000102125	TAZ	8630491	302060	Barth syndrome 	4685904
ENSG00000156925	ZIC3	9354794	306955	Congenital heart defects, nonsyndromic, 1, X-linked 	4839027
ENSG00000156925	ZIC3	9354794	306955	Heterotaxy, visceral, 1, X-linked 	4839027
ENSG00000184634	MED12	17369503	309520	Lujan-Fryns syndrome	6711603
ENSG00000169083	AR	2062380	313200	Spinal and bulbar muscular atrophy of Kennedy	4233749
ENSG00000136160	EDNRB	11891690	600501	ABCD syndrome, 	397773
ENSG00000225830	ERCC6	15486090	600630	UV-sensitive syndrome 1 	7264357
ENSG00000182533	CAV3	9537420	607801	Muscular dystrophy, limb-girdle, type IC	1146501
ENSG00000117601	SERPINC1	3055413	613118	Thrombophilia due to antithrombin III deficiency	14347873
ENSG00000027697	IFNGR1	10192386	615978	Immunodeficiency 	1248490
ENSG00000156650	KAT6B	22265014	606170	Genitopatellar syndrome 	Goldblatt, J., Wallis, C., Zieff, S. A syndrome of hypoplastic patellae, mental retardation, skeletal and genitourinary anomalies with normal chromosomes. Dysmorph. Clin. Genet. 2: 91-93, 1988.
ENSG00000136068	FLNB	14991055	108720	Atelosteogenesis, type I	Rimoin, D. L., Sillence, D. O., Lachman, R. S., Jenkins, T., Riccardi, V. Giant cell chondrodysplasia: a second case of a rare lethal newborn skeletal dysplasia. (Abstract) Am. J. Hum. Genet. 32: 125A only, 1980.
ENSG00000134899	ERCC5	11841555	278780	Xeroderma pigmentosum, group G	Cheesbrough, M. J., Kinmont, P. D. S. Xeroderma pigmentosum--a unique variant with neurologic involvement. Brit. J. Derm. 99 (suppl. 16): 61 only, 1978.
ENSG00000142798	HSPG2	11279527	224410	Dyssegmental dysplasia, Silverman-Handmaker type	Handmaker, S. D., Robinson, L. D., Campbell, J. A., Chinwah, O., Gorlin, R. J. Dyssegmental dwarfism: a new syndrome of lethal dwarfism. Birth Defects Orig. Art. Ser. XIII(3D): 79-90, 1977.
ENSG00000122691	TWIST1	10465122	180750	Robinow-Sorauf syndrome	Robinow, M., Sorauf, T. J. Acrocephalopolysyndactyly, type Noack, in a large kindred. Birth Defects Orig. Art. Ser. XI(5): 99-106, 1975.
ENSG00000183918	SH2D1A	9771704	308240	Lymphoproliferative syndrome, X-linked, 1	Purtilo, D. T., Cassel, C. K., Yang, J. P. S. Fatal infectious mononucleosis in familial lymphohistiocytosis. (Letter) New Eng. J. Med. 201: 736 only, 1974.
ENSG00000038002	AGA	1904874	208400	Aspartylglucosaminuria 	Jenner, F. A., Pollitt, R. J. Large quantities of 2-acetamido-1-(beta-L-aspartamido)-1,2-dideoxyglucose in the urine of mentally retarded siblings. Biochem. J. 103: 48P-49P, 1967.
ENSG00000038002	AGA	1703489	208400	Aspartylglucosaminuria 	Jenner, F. A., Pollitt, R. J. Large quantities of 2-acetamido-1-(beta-L-aspartamido)-1,2-dideoxyglucose in the urine of mentally retarded siblings. Biochem. J. 103: 48P-49P, 1967.
ENSG00000197249	SERPINA1	2696185	613490	Emphysema due to AAT deficiency 	Eriksson, S. Studies in alpha 1-antitrypsin deficiency. Acta Med. Scand. 177 (suppl. 432): 1-85, 1965.
ENSG00000197249	SERPINA1	2696185	613490	Emphysema-cirrhosis, due to AAT deficiency	Eriksson, S. Studies in alpha 1-antitrypsin deficiency. Acta Med. Scand. 177 (suppl. 432): 1-85, 1965.
ENSG00000197249	SERPINA1	2696185	613490	Hemorrhagic diathesis due to antithrombin Pittsburgh	Eriksson, S. Studies in alpha 1-antitrypsin deficiency. Acta Med. Scand. 177 (suppl. 432): 1-85, 1965.
ENSG00000115355	CCDC88A	28335020	260565	PEHO syndrome	8301648
ENSG00000105722	ERF	27738187	617180	Chitayat syndrome	8418638
ENSG00000127980	PEX1	26387595	234580	Heimler syndrome 1	2063923
ENSG00000144354	CDCA7	26216346	616910	Immunodeficiency-centromeric instability-facial anomalies syndrome 3	1999836
ENSG00000196365	LONP1	25574826	600373	CODAS syndrome 	1887855
ENSG00000143473	KCNH1	25420144	611816	Temple-Baraitser syndrome 	1785628
ENSG00000123104	ITPR2	25329695	106190	Anhidrosis, isolated, with normal sweat glands	2401610
ENSG00000152620	NADK2	24847004	616034	2,4-dienoyl-CoA reductase deficiency	2332510
ENSG00000184009	ACTG1	22366783	614583	Baraitser-Winter syndrome 2	3351890
ENSG00000178971	CTC1	22267198	612199	Cerebroretinal microangiopathy with calcifications and cysts	3402627
ENSG00000156650	KAT6B	22077973	603736	SBBYSS syndrome 	3430551
ENSG00000109705	NKX3-2	20004766	613330	Spondylo-megaepiphyseal-metaphyseal dysplasia	3925497
ENSG00000101384	JAG1	9207788	118450	Deafness, congenital heart defects, and posterior embryotoxon, Alagille syndrome 1	4712776
ENSG00000101384	JAG1	9207787	118450	Deafness, congenital heart defects, and posterior embryotoxon, Alagille syndrome 1	4712776
ENSG00000130175	PRKCSH	12577059	174050	Polycystic liver disease 1	508507
ENSG00000141646	SMAD4	15031030	175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	7372073
ENSG00000164093	PITX2	15591271	180550	Ring dermoid of cornea	7387508
ENSG00000090534	THPO	9425899	187950	Thrombocythemia 1	4365053
ENSG00000184937	WT1	1655284	194080	Denys-Drash syndrome	4292870
ENSG00000132464	ENAM	14684688	204650	Amelogenesis imperfecta type IC 	284277
ENSG00000133111	RFXAP	12368908	209920	Bare lymphocyte syndrome, type II, complementation group D	650344
ENSG00000143390	RFX5	12368908	209920	Bare lymphocyte syndrome, type II, complementation group E	650344
ENSG00000143390	RFX5	12368908	209920	Bare lymphocyte syndrome, type II, complementation group C	650344
ENSG00000197375	SLC22A5	9916797	212140	Carnitine deficiency, systemic primary	234182
ENSG00000198331	HYLS1	15843405	236680	Hydrolethalus syndrome	7028327
ENSG00000087299	L2HGDH	15385440	236792	L-2-hydroxyglutaric aciduria	6787330
ENSG00000021826	CPS1	8486760	237300	Carbamoylphosphate synthetase I deficiency	5356974
ENSG00000083720	OXCT1	8751852	245050	Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)	4258782
ENSG00000155850	SLC26A2	8571951	256050	Atelosteogenesis II	4644462
ENSG00000155850	SLC26A2	8571951	256050	De la Chapelle dysplasia	4644462
ENSG00000189056	RELN	10973257	257320	Lissencephaly 2 (Norman-Roberts type)	175907
ENSG00000167642	SPINT2	19185281	270420	Diarrhea 3, secretory sodium, congenital, syndromic	2860286
ENSG00000139351	SYCP3	14643120	270960	Spermatogenic failure 4	574357
ENSG00000151090	THRB	1991834	274300	Thyroid hormone resistance, autosomal recessive	4163616
ENSG00000001626	CFTR	1359500	277180	Congenital bilateral absence of vas deferens	5657013
ENSG00000168216	LMBRD1	19136951	277380	Methylmalonic aciduria and homocystinuria, cblF type	4001945
ENSG00000147224	PRPS1	8253776	300661	Gout, PRPS-related	5782823
ENSG00000147224	PRPS1	8253776	300661	Phosphoribosylpyrophosphate synthetase superactivity	5782823
ENSG00000124479	NDP	8252044	305390	Exudative vitreoretinopathy 2, X-linked	5394449
ENSG00000102302	FGD1	7954831	305400	Aarskog-Scott syndrome	5504078
ENSG00000102302	FGD1	7954831	305400	Mental retardation, X-linked syndromic 	5504078
ENSG00000139567	ACVRL1	8640225	600376	Telangiectasia, hereditary hemorrhagic, type 2	5037289
ENSG00000083937	CHMP2B	16041373	600795	Dementia, familial, nonspecific	7470845
ENSG00000116218	NPHS2	10742096	600995	Nephrotic syndrome, type 2	997538
ENSG00000025708	TYMP	9924029	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	1219124
ENSG00000107290	SETX	14770181	606002	Spinocerebellar ataxia, autosomal recessive 1	7214250
ENSG00000150995	ITPR1	17590087	606658	Spinocerebellar ataxia 15	6133167
ENSG00000198954	KIF1BP	15883926	609460	Goldberg-Shprintzen megacolon syndrome 	7338549
ENSG00000108946	PRKAR1A	12213893	610489	Pigmented nodular adrenocortical disease, primary, 1	579530
ENSG00000117394	SLC2A1	18451999	612126	GLUT1 deficiency syndrome 2, childhood onset	6707673
ENSG00000122550	KLHL7	19520207	612943	Retinitis pigmentosa 42	3976802
ENSG00000183010	PYCR1	19648921	614438	Cutis laxa, autosomal recessive, type IIIB	4076251
ENSG00000096968	JAK2	15858187	614521	Thrombocythemia 3 	7296002
ENSG00000096968	JAK2	15781101	614521	Thrombocythemia 3 	7296002
ENSG00000090776	EFNB1	15124102	304110	Craniofrontonasal dysplasia 	Slover, R., Sujansky, E. Frontonasal dysplasia with coronal craniosynostosis in three sibs. Birth Defects Orig. Art. Ser. XV(5B): 75-83, 1979.
ENSG00000167654	ATCAY	14556008	601238	Ataxia, cerebellar, Cayman type	Johnson, W. G., Murphy, M., Murphy, W. I., Bloom, A. D. Recessive congenital cerebellar disorder in a genetic isolate: CPD type VII? Neurology (Abstract) 28: 352-353, 1978.
ENSG00000115648	MLPH	12897212	609227	Griscelli syndrome, type 3	C. Griscelli and M. Prunieras: Pigment dilution and immunodeficiency: a new syndrome. International Journal of Dermatology, Philadelphia, December 1978, 17 (10): 788-791 
ENSG00000165474	GJB2	12072059	602540	Hystrix-like ichthyosis with deafness	Gulzow, J., Anton-Lamprecht, I. Ichthyosis hystrix gravior typus Rheydt: ein otologisch-dermatologisches syndrom. Laryng. Rhinol. Otol. (Stuttg.) 56: 949-955, 1977.
ENSG00000116690	PRG4	10545950	208250	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	Jacobs, J. C., Downey, J. A. Juvenile rheumatoid arthritis.In: Downey, J. A.; Low, N. L. (eds.) : The Child with Disabling Illness. Philadelphia: W. B. Saunders (pub.) 1974. Pp. 5-24.
ENSG00000182871	COL18A1	8776601	267750	Knobloch syndrome, type 1	Knobloch, W. H., Layer, J. M. Retinal detachment and encephalocele. J. Pediat. Ophthal. 8: 181-184, 1971.
ENSG00000204248	COL11A2	7859284	215150	Otospondylomegaepiphyseal dysplasia 	Nance, W. E., Sweeney, A. A recessively inherited chondrodystrophy. Birth Defects Orig. Art. Ser. VI(4): 25-27, 1970.
ENSG00000196767	POU3F4	7839145	304400	Deafness, X-linked 2	Nance, W. E., Sweeney, A., McLeod, A. C., Cooper, M. C. Hereditary deafness: a presentation of some recognized types, modes of inheritance, and aids in counseling. Sth. Med. Bull. 58: 41-57, 1970.
ENSG00000184058	TBX1	8268909	188400	Conotruncal anomaly face syndrome, DiGeorge syndrome	DiGeorge, A. M. Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism. Birth Defects Orig. Art. Ser. IV(1): 116-121, 1968.
ENSG00000130707	ASS1	3570300	215700	Citrullinemia 	McMurray, W. C., Mohyuddin, F., Rossiter, R. J., Rathbun, J. C., Valentine, G. H., Koegler, S. J., Zarfas, D. E. Citrullinuria: a new aminoaciduria associated with mental retardation. Lancet 279: 138 only, 1962. Note: Originally Volume I.
ENSG00000116957	TBCE	27666369	617207	Encephalopathy, progressive, with amyotrophy and optic atrophy	2022963
ENSG00000109775	UFSP2	26428751	142669	Hip dysplasia, Beukes type, 14	2389793
ENSG00000196159	FAT4	24913602	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	2624276
ENSG00000166801	FAM111A	23684011	602361	Gracile bone dysplasia 	3060039
ENSG00000140090	SLC24A4	23375655	615887	Amelogenesis imperfecta, type IIA5	3150442
ENSG00000160131	VMA21	23315026	310440	Myopathy, X-linked, with excessive autophagy	2897824
ENSG00000152223	EPG5	23222957	242840	Vici syndrome	3344762
ENSG00000072864	NDE1	22526350	605013	Microhydranencephaly	2884728
ENSG00000166147	FBN1	21683322	102370	Acromicric dysplasia	3728563
ENSG00000111199	TRPV4	20037588	600175	Spinal muscular atrophy, distal, congenital nonprogressive	4056805
ENSG00000075891	PAX2	7795640	120330	Papillorenal syndrome	5418855
ENSG00000154803	FLCN	12204536	135150	Birt-Hogg-Dube syndrome	596896
ENSG00000139219	COL2A1	14729840	151210	Platyspondylic skeletal dysplasia, Torrance type	448481
ENSG00000196712	NF1	1302608	193520	Watson syndrome	6025371
ENSG00000139352	ASCL1	14532329	209880	Haddad syndrome	713831
ENSG00000109132	PHOX2B	12640453	209880	Central hypoventilation syndrome, congenital, with or without Hirschsprung disease	713831
ENSG00000168621	GDNF	12640453	209880	Central hypoventilation syndrome 	713831
ENSG00000171316	CHD7	15300250	214800	CHARGE syndrome	469662
ENSG00000165140	FBP1	7763253	229700	Fructose-1,6-bisphosphatase deficiency	4193749
ENSG00000160200	CBS	6711564	236200	Homocystinuria, B6-responsive and nonresponsive types	14418426
ENSG00000160200	CBS	6711564	236200	Thrombosis, hyperhomocysteinemic	14418426
ENSG00000115827	DCAF17	19026396	241080	Woodhouse-Sakati syndrome	6876115
ENSG00000128928	IVD	2063866	243500	Isovaleric acidemia	5229850
ENSG00000092067	CEBPE	10359588	245480	Specific granule deficiency	4129798
ENSG00000103227	LMF1	17994020	246650	Lipase deficiency, combined	6961921
ENSG00000198130	HIBCH	17160907	250620	3-hydroxyisobutryl-CoA hydrolase deficiency	7122152
ENSG00000158864	NDUFS2	11220739	252010	Mitochondrial complex I deficiency	947896
ENSG00000205138	SDHAF1	19465911	252011	Mitochondrial complex II deficiency	6318158
ENSG00000102145	GATA1	12200364	314050	Thrombocytopenia with beta-thalassemia, X-linked	871527
ENSG00000180902	D2HGDH	15609246	600721	D-2-hydroxyglutaric aciduria 	6774165
ENSG00000140521	POLG	12565911	607459	Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)	632821
ENSG00000187498	COL4A1	16598045	607595	Brain small vessel disease with or without ocular anomalies	7257746
ENSG00000106804	C5	7730648	609536	C5 deficiency	5411128
ENSG00000101347	SAMHD1	19525956	612952	Aicardi-Goutieres syndrome 5 	6712192
ENSG00000105220	GPI	8499925	613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency	5672849
ENSG00000126562	WNK4	11498583	614491	Pseudohypoaldosteronism, type IIB	964728
ENSG00000105146	AURKC	17435757	243060	Spermatogenic failure 5	German, J., Rasch, E. M., Huang, C. Y., MacLeod, J., Imperato-McGinley, J. Human infertility due to production of multiple-tailed spermatozoa with excessive amounts of DNA. (Abstract) Am. J. Hum. Genet. 33: 64A only, 1981.
ENSG00000148090	AUH	12434311	250950	3-methylglutaconic aciduria, type I	Robinson, B. H., Sherwood, W. G., Lampty, M., Lowden, J. A. Beta-methyl glutaconic aciduria: a new disorder of leucine metabolism. (Abstract) Pediat. Res. 10: 371 only, 1976.
ENSG00000103449	SALL1	9425907	107480	Townes-Brocks syndrome	4639228
ENSG00000105664	COMP	7670472	177170	Pseudoachondroplasia	Hall, J. G., Dorst, J. P. Pseudoachondroplastic SED, recessive Maroteaux-Lamy type. Birth Defects Orig. Art. Ser. V(4): 254-259, 1969.
ENSG00000139219	COL2A1	8434604	108300	Stickler syndrome, type I	G. B. Stickler, D. G. Pugh: Hereditary progressive arthroophthalmopathy: II Additional observations of vertebral abnormalities, a hearing defect, and a report of a similar case. Mayo Clinic Proceedings, Rochester, Minnesota, 1967, 42: 495-500. 
ENSG00000188037	CLCN1	1379744	255700	Myotonia congenita, recessive	Becker, P. E. Zur Genetik der Myotonien.In: Kuhn, E. : Progressive Muskeldystrophie, Myotonie, Myasthenie. Berlin: Springer-Verlag (pub.) 1966. Pp. 247-255.
ENSG00000113273	ARSB	1718978	253200	Mucopolysaccharidosis type VI (Maroteaux-Lamy)	Maroteaux, P., Lamy, M. Hurler's disease, Morquio's disease, and related mucopolysaccharidoses. J. Pediat. 67: 312-323, 1965.
ENSG00000172331	BPGM	2542247	222800	Erythrocytosis due to bisphosphoglycerate mutase deficiency	Lohr, G. W., Waller, H. D. Zur Biochemie einiger angeborener haemolytischer Anaemien. Folia Haemat. 8: 377-397, 1963.
ENSG00000126814	TRMT5	26189817	616539	Combined oxidative phosphorylation deficiency 	2544623
ENSG00000148204	CRB2	25557780	219730	Ventriculomegaly with cystic kidney disease 	2478019
ENSG00000180053	NKX2-6	24421281	217095	Persistent truncus arteriosus 	3341225
ENSG00000128829	EIF2AK4	24292273	234810	Pulmonary venoocclusive disease 2	3382104
ENSG00000164961	WASHC5	24065355	220210	Ritscher-Schinzel syndrome 1	3812597
ENSG00000185482	STAC3	23736855	255995	Native American myopathy	3631569
ENSG00000109501	WFS1	23531866	116400	Cataract 41	3662912
ENSG00000131779	PEX11B	22581968	614920	Peroxisome biogenesis disorder 14B	3515938
ENSG00000104833	TUBB4A	21956287	128101	Dystonia 4, torsion, autosomal dominant	3156966
ENSG00000075702	WDR62	20890279	604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 	6737015
ENSG00000186395	KRT10	20798280	609165	Ichthyosis with confetti	6529087
ENSG00000156925	ZIC3	20452998	314390	VACTERL association, X-linked	6335367
ENSG00000122861	PLAU	20007542	601709	Quebec platelet disorder	6480825
ENSG00000137203	TFAP2A	18423521	113620	Branchiooculofacial syndrome	7200726
ENSG00000131504	DIAPH1	9360932	124900	Deafness, autosomal dominant 1	5157378
ENSG00000171862	PTEN	9241266	153480	Bannayan-Riley-Ruvalcaba syndrome	5091590
ENSG00000004939	SLC4A1	1722314	166900	Ovalocytosis SA type 	14314234
ENSG00000134376	CRB1	15623792	172870	Pigmented paravenous chorioretinal atrophy	434087
ENSG00000156970	BUB1B	15475955	176430	Premature chromatid separation trait	149087
ENSG00000073861	TBX21	9393345	208550	Asthma and nasal polyps 	5155528
ENSG00000225830	ERCC6	10739753	214150	Cerebrooculofacioskeletal syndrome 1	4211825
ENSG00000156970	BUB1B	15475955	257300	Mosaic variegated aneuploidy syndrome 1	149087
ENSG00000092607	TBX15	19068278	260660	Cousin syndrome	7103674
ENSG00000100983	GSS	8896573	266130	Glutathione synthetase deficiency 	5486400
ENSG00000011198	ABHD5	11590543	275630	Chanarin-Dorfman syndrome 	1139147
ENSG00000130985	UBA1	18179898	301830	Spinal muscular atrophy, X-linked 2, infantile	7200838
ENSG00000104884	ERCC2	9195225	601675	Trichothiodystrophy 1, photosensitive	5120162
ENSG00000183873	SCN5A	10940383	603829	Ventricular fibrillation, familial, 1	4834245
ENSG00000175198	PCCA	3687944	606054	Propionicacidemia 	13693094
ENSG00000182533	CAV3	11431690	606072	Rippling muscle disease	1146501
ENSG00000100311	PDGFB	3969118	607174	Meningioma, SIS-related	13621270
ENSG00000158014	SLC30A2	17065149	608118	Zinc deficiency, transient neonatal	7192074
ENSG00000039139	DNAH5	11788826	608644	Ciliary dyskinesia, primary, 3, with or without situs inversus	1084576
ENSG00000134259	NGF	14976160	608654	Neuropathy, hereditary sensory and autonomic, type V	77656
ENSG00000205403	CFI	8613545	610984	Complement factor I deficiency	4097977
ENSG00000105877	DNAH11	12142464	611884	Ciliary dyskinesia, primary, 7, with or without situs inversus	1084576
ENSG00000110711	AIP	25485838	219090	Pituitary adenoma, ACTH-secreting	Swinburn, B. A., Holdaway, I. M. Familial Cushing's disease. Aust. New Zeal. J. Med. 18: 169-171, 1988.
ENSG00000138760	SCARB2	18308289	254900	Epilepsy, progressive myoclonic 4, with or without renal failure	Andermann, F., Andermann, E., Carpenter, S., Wolfe, L., Nelson, R., Patry, G., Boileau, J., Warren, Y., Barcelo, R. Action myoclonus--renal failure: a new autosomal recessive syndrome in three families. (Abstract) Sixth International Congress of Human Genetics, Jerusalem 1981. P. 199.
ENSG00000101115	SALL4	12393809	607323	Duane-radial ray syndrome	Temtamy, S. A., Shoukry, A. S., Ghaly, I., El-Meligy, R., Boulos, S. Y. The Duane radial dysplasia syndrome: an autosomal dominant disorder. Birth Defects Orig. Art. Ser. XI(5): 344-345, 1975.
ENSG00000111341	MGP	9916809	245150	Keutel syndrome	Keutel, J., Jorgensen, G., Gabriel, P. A new autosomal recessive syndrome: peripheral pulmonary stenoses, brachytelephalangism, neural hearing loss and abnormal cartilage calcifications-ossification. Birth Defects Orig. Art. Ser. VIII(5): 60-68, 1972.
ENSG00000007933	FMO3	9398858	602079	Trimethylaminuria 	Humbert, J. R., Hammond, K. B., Hathaway, W. E., Marcoux, J., O'Brien, D. Trimethylaminuria: the fish-odour syndrome. (Letter) Lancet 296: 770-771, 1970.
ENSG00000125965	GDF5	8589725	201250	Acromesomelic dysplasia, Hunter-Thompson type	Hall, J. G. Peripheral dysostosis. Birth Defects Orig. Art. Ser. V(4): 371-372, 1969.
ENSG00000065618	COL17A1	7550320	226650	Epidermolysis bullosa, junctional, localisata variant	Ridley, C. M., Levy, L. S. Epidermolysis bullosa and amyloidosis: a case report. Trans. St. John's Hosp. Derm. Soc. 54: 75-82, 1968.
ENSG00000109063	MYH3	25957469	178110	Arthrogryposis, distal, type 8	2831369
ENSG00000013375	PGM3	24589341	615816	Immunodeficiency 23 	3500672
ENSG00000156709	AIFM1	23217327	310490	Cowchock syndrome	3856385
ENSG00000070019	GUCY2C	22521417	614665	Meconium ileus 	4006357
ENSG00000197822	OCLN	20727516	251290	Pseudo-TORCH syndrome 1	6876113
ENSG00000007372	PAX6	12721955	120430	Coloboma of optic nerve	945057
ENSG00000007372	PAX6	12721955	120430	Morning glory disc anomaly	945057
ENSG00000066468	FGFR2	8696350	123790	Beare-Stevenson cutis gyrata syndrome	5781468
ENSG00000106031	HOXA13	9020844	140000	Hand-foot-uterus syndrome,	5417032
ENSG00000101115	SALL4	17256792	147750	IVIC syndrome	7395922
ENSG00000108946	PRKAR1A	10973256	160980	Carney complex, type 1	4729862
ENSG00000029534	ANK1	2675425	182900	Spherocytosis, type 1	14474766
ENSG00000120729	MYOT	16380616	182920	Myopathy, spheroid body	571956
ENSG00000204842	ATXN2	8896555	183090	Spinocerebellar ataxia 2	5808476
ENSG00000144659	SLC25A38	19412178	205950	Anemia, sideroblastic, 2, pyridoxine-refractory	7039309
ENSG00000112761	WISP3	10471507	208230	Arthropathy, progressive pseudorheumatoid, of childhood	4657332
ENSG00000112761	WISP3	10471507	208230	Spondyloepiphyseal dysplasia tarda with progressive arthropathy	4657332
ENSG00000001084	GCLC	10515893	230450	Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency	5058793
ENSG00000178127	NDUFV2	12754703	252010	Mitochondrial complex I deficiency	947896
ENSG00000108395	TRIM37	10888877	253250	Mulibrey nanism	4124529
ENSG00000150753	CCT5	16399879	256840	Neuropathy, hereditary sensory, with spastic paraplegia	218673
ENSG00000102893	PHKB	9215682	261750	Phosphorylase kinase deficiency of liver and muscle, autosomal recessive	4322108
ENSG00000112964	GHR	8488849	262500	Laron dwarfism	5916640
ENSG00000114480	GBE1	9851430	263570	Polyglucosan body disease, adult form	4111956
ENSG00000122643	NT5C3A	11369620	266120	Anemia, hemolytic, due to UMPH1 deficiency	4372252
ENSG00000170734	POLH	10385124	278750	Xeroderma pigmentosum, variant type	5013606
ENSG00000147168	IL2RG	8462096	300400	Severe combined immunodeficiency, X-linked	5322671
ENSG00000196924	FLNA	12612583	304120	Otopalatodigital syndrome, type II	975599
ENSG00000196296	ATP2A1	8841193	601003	Brody myopathy 	4239835
ENSG00000004864	SLC25A13	10369257	603471	Citrullinemia adult-onset type II 	5057291
ENSG00000163069	SGCB	7581448	604286	Muscular dystrophy, limb-girdle, type 2E	5637795
ENSG00000132740	IGHMBP2	11528396	604320	Neuronopathy, distal hereditary motor, type VI	4809192
ENSG00000140368	PSTPIP1	11971877	604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne	1165961
ENSG00000099377	HSD3B7	11067870	607765	Bile acid synthesis defect, congenital, 1	4795443
ENSG00000174469	CNTNAP2	16571880	610042	Cortical dysplasia-focal epilepsy syndrome	David Pitt and Ian Hopkins: A syndrome of mental retardation, wide mouth and intermittent overbreathing. Australian Paediatric Journal, Melbourne, 1978, 14 (3): 182-184.
ENSG00000138375	SMARCAL1	11799392	242900	Schimke immunoosseous dysplasia	Schimke, R. N., Horton, W. A., King, C. R., Martin, N. L. Chondroitin-6-sulfate mucopolysaccharidosis in conjunction with lymphopenia, defective cellular immunity and the nephrotic syndrome. Birth Defects Orig. Art. Ser. X(12): 258-266, 1974.
ENSG00000103449	SALL1	10928856	107480	Townes-Brocks branchiootorenal-like syndrome	4639228
ENSG00000011600	TYROBP	10888890	221770	Nasu-Hakola disease	Hakola, H. P. A. Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia. Acta Psychiat. Neurol. Scand. Suppl. 232: 1-173, 1972.
ENSG00000116039	ATP6V1B1	9916796	267300	Renal tubular acidosis with deafness	Nance, W. E., Sweeney, A. Evidence for autosomal recessive inheritance of the syndrome of renal tubular acidosis with deafness. Birth Defects Orig. Art. Ser. VII(4): 70-72, 1971.
ENSG00000101871	MID1	9354791	300000	Opitz GBBB syndrome, type I	Opitz, J. M., Frias, J. L., Gutenberger, J. E., Pellett, J. R. The G syndrome of multiple congenital anomalies. Birth Defects Orig. Art. Ser. V(2): 95-101, 1969.
ENSG00000204248	COL11A2	7859284	184840	Stickler syndrome, type III	G. B. Stickler, D. G. Pugh: Hereditary progressive arthroophthalmopathy: II Additional observations of vertebral abnormalities, a hearing defect, and a report of a similar case. Mayo Clinic Proceedings, Rochester, Minnesota, 1967, 42: 495-500. 
ENSG00000108479	GALK1	7670469	230200	Galactokinase deficiency with cataracts	Gitzelmann, R. Hereditary galactokinase deficiency, a newly recognized cause of juvenile cataracts. Pediat. Res. 1: 14-23, 1967.
ENSG00000100170	SLC5A1	2008213	606824	Glucose/galactose malabsorption 	Lindquist, B., Meeuwisse, G. W., Melin, K. Osmotic diarrhoea in genetically transmitted glucose-galactose malabsorption. Acta Paediat. 52: 217-219, 1963.
ENSG00000131187	F12	2882793	234000	Factor XII deficiency	McCain, K. F., Chernoff, A. I., Graham, J. B. Establishment of the inheritance of Hageman defect as an autosomal recessive trait.In: Brinkhous, K. M. : Hemophilia and Other Hemorrhagic States. Chapel Hill: Univ. of North Carolina Press (pub.) 1959. Pp. 179-191.
ENSG00000142513	ACP4	27843125	617297	Amelogenesis imperfecta, type IJ	3150442
ENSG00000169375	SIN3A	27399968	613406	Witteveen-Kolk syndrome	3198122
ENSG00000113013	HSPA9	26491070	182170	Anemia, sideroblastic, 4	3653362
ENSG00000123384	LRP1	26142438	604093	Keratosis pilaris atrophicans	3654209
ENSG00000185624	P4HB	25683117	112240	Cole-Carpenter syndrome 1	3794889
ENSG00000175595	ERCC4	23623389	278760	Xeroderma pigmentosum, type F/Cockayne syndrome	3834095
ENSG00000126970	ZC4H2	23623388	314580	Wieacker-Wolff syndrome	4039531
ENSG00000160710	ADAR	23001123	615010	Aicardi-Goutieres syndrome 6	6712192
ENSG00000152104	PTPN14	20826270	613611	Choanal atresia and lymphedema	7158640
ENSG00000198677	TTC37	20176027	222470	Trichohepatoenteric syndrome 1	7073301
ENSG00000163914	RHO	2137202	136880	Retinitis punctata albescens	14459667
ENSG00000164690	SHH	8896572	142945	Holoprosencephaly 3	5647374
ENSG00000130164	LDLR	3549308	143890	Hypercholesterolemia, familial	13606151
ENSG00000187498	COL4A1	15905400	175780	Porencephaly 1	561341
ENSG00000066926	FECH	1755842	177000	Protoporphyria, erythropoietic, autosomal recessive	14072370
ENSG00000118873	RAB3GAP2	16532399	212720	Martsolf syndrome	677168
ENSG00000242110	AMACR	10655068	214950	Bile acid synthesis defect, congenital, 4	5064535
ENSG00000182197	EXT1	7726168	215300	Chondrosarcoma 	6015756
ENSG00000174775	HRAS	16170316	218040	Congenital myopathy with excess of muscle spindles	907573
ENSG00000174775	HRAS	16170316	218040	Costello syndrome 	907573
ENSG00000040531	CTNS	10556299	219900	Cystinosis, late-onset juvenile or adolescent nephropathic	5141767
ENSG00000087116	ADAMTS2	10417273	225410	Ehlers-Danlos syndrome, type VIIC	5289249
ENSG00000113889	KNG1	12576314	228960	High molecular weight kininogen deficiency	1202089
ENSG00000036828	CASR	791666	239200	Hyperparathyroidism, neonatal	18887540
ENSG00000145494	NDUFS6	15372108	252010	Mitochondrial complex I deficiency	947896
ENSG00000125356	NDUFA1	15293270	252010	Mitochondrial complex I deficiency	947896
ENSG00000213619	NDUFS3	14729820	252010	Mitochondrial complex I deficiency	947896
ENSG00000196811	CHRNG	16826531	265000	Escobar syndrome 	655146
ENSG00000196811	CHRNG	16826520	265000	Escobar syndrome 	655146
ENSG00000134595	SOX3	15800844	312000	Panhypopituitarism, X-linked	192503
ENSG00000155657	TTN	12145747	600334	Tibial muscular dystrophy, tardive	4855680
ENSG00000026103	FAS	7540117	601859	Autoimmune lymphoproliferative syndrome, type IA	4165068
ENSG00000026103	FAS	7540117	601859	Autoimmune lymphoproliferative syndrome	4165068
ENSG00000087460	GNAS	11067869	603233	Pseudohypoparathyroidism Ib	5011390
ENSG00000134853	PDGFRA	12660384	607685	Hypereosinophilic syndrome, idiopathic, resistant to imatinib	1090795
ENSG00000117385	P3H1	17277775	610915	Osteogenesis imperfecta, type VIII	458828
ENSG00000124491	F13A1	2895980	613225	Factor XIIIA deficiency	13724728
ENSG00000077782	FGFR1	23812909	615465	Hartsfield syndrome 	Hartsfield, J. K., Jr., Bixler, D., DeMyer, W. E. Hypertelorism associated with holoprosencephaly and ectrodactyly. J. Clin. Dysmorph. 2: 27-31, 1984.
ENSG00000167985	SDHAF2	19628817	601650	Paragangliomas 2 	van Baars, F. M. Glomustumoren et herediteit. Thesis: Catholic Univ. of Nijmegen (pub.) 1980.
ENSG00000120659	TNFSF11	17632511	259710	Osteopetrosis, autosomal recessive 2	Burns, J., Kahler, S., Aylsworth, A. Osteopetrosis: the mild recessive form. (Abstract) Am. J. Hum. Genet. 30: 48A only, 1978.
ENSG00000196628	TCF4	17436255	610954	Pitt-Hopkins syndrome 	David Pitt and Ian Hopkins: A syndrome of mental retardation, wide mouth and intermittent overbreathing. Australian Paediatric Journal, Melbourne, 1978, 14 (3): 182-184.
ENSG00000196628	TCF4	17436254	610954	Pitt-Hopkins syndrome 	David Pitt and Ian Hopkins: A syndrome of mental retardation, wide mouth and intermittent overbreathing. Australian Paediatric Journal, Melbourne, 1978, 14 (3): 182-184.
ENSG00000136068	FLNB	14991055	272460	Spondylocarpotarsal synostosis syndrome	Langer, L. O., Jr., Moe, J. H. A recessive form of congenital scoliosis different from spondylothoracic dysplasia. Birth Defects Orig. Art. Ser. XI(6): 83-86, 1975.
ENSG00000198467	TPM2	12592607	108120	Arthrogryposis multiplex congenita, distal, type 1	4855665
ENSG00000111846	GCNT2	11739194	116700	Cataract 13 with adult i phenotype	Yamaguchi, H., Okubo, Y., Tanaka, M. A note on possible close linkage between the Ii blood locus and a congenital cataract locus. Proc. Jpn. Acad. 48: 625-628, 1972.
ENSG00000128274	A4GALT	10993874	111400	NOR polyagglutination syndrome	4997730
ENSG00000128274	A4GALT	10747952	111400	NOR polyagglutination syndrome	4997730
ENSG00000060718	COL11A1	8872475	604841	Stickler syndrome, type II	G. B. Stickler, D. G. Pugh: Hereditary progressive arthroophthalmopathy: II Additional observations of vertebral abnormalities, a hearing defect, and a report of a similar case. Mayo Clinic Proceedings, Rochester, Minnesota, 1967, 42: 495-500. 
ENSG00000139219	COL2A1	7550321	184250	SMED Strudwick type	Kozlowski, K., Budzinska, A. Combined metaphyseal and epiphyseal dysostosis. Am. J. Radiol. 97: 21-30, 1966.
ENSG00000198732	SMOC1	2119467	206920	Microphthalmia with limb anomalies 	Waardenburg, P. J. Autosomally-recessive anophthalmia with malformations of the hands and feet. In: Waardenburg, P. J.; Franceschetti, A.; Klein, D.: Genetics and Ophthalmology. Vol. 1. Assen, The Netherlands: Royal Van Gorcum (pub.) 1961. P. 773
ENSG00000153113	CAST	25683118	616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	3527073
ENSG00000155961	RAB39B	25434005	311510	Waisman syndrome	4025396
ENSG00000090020	SLC9A1	25205112	616291	Lichtenstein-Knorr syndrome	3739762
ENSG00000167323	STIM1	24619930	185070	Stormorken syndrome	4085141
ENSG00000132716	DCAF8	24500646	610100	Giant axonal neuropathy 2, autosomal dominant	3859241
ENSG00000179456	ZBTB18	24193349	612337	Mental retardation, autosomal dominant 22	4073121
ENSG00000169604	ANTXR1	23602711	230740	GAPO syndrome	6507471
ENSG00000150995	ITPR1	22986007	117360	Spinocerebellar ataxia 29, congenital nonprogressive	6847426
ENSG00000108474	PIGL	22444671	280000	CHIME syndrome	6192719
ENSG00000117394	SLC2A1	21791420	608885	Stomatin-deficient cryohydrocytosis with neurologic defects	7174793
ENSG00000140968	IRF8	21524210	226990	Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive	6279813
ENSG00000167548	KMT2D	20711175	147920	Kabuki syndrome 1	7277097
ENSG00000168542	COL3A1	3337712	130050	Ehlers-Danlos syndrome, type IV	14426851
ENSG00000112619	PRPH2	1749427	136880	Retinitis punctata albescens	14459667
ENSG00000204539	CDSN	12754508	146520	Hypotrichosis 2	4141628
ENSG00000100345	MYH9	11590545	153650	Epstein syndrome	5011389
ENSG00000095002	MSH2	8931714	158320	Muir-Torre syndrome	6020987
ENSG00000076242	MLH1	8751876	158320	Muir-Torre syndrome	6020987
ENSG00000179142	CYP11B2	8439335	203400	Hypoaldosteronism, congenital, due to CMO I deficiency	14250395
ENSG00000167634	NLRP7	16462743	231090	Hydatidiform mole, recurrent, 1	561314
ENSG00000116984	MTR	8968736	250940	Homocystinuria-megaloblastic anemia, cblG complementation type	5300832
ENSG00000164182	NDUFAF2	16200211	252010	Mitochondrial complex I deficiency	947896
ENSG00000023228	NDUFS1	15824269	252010	Mitochondrial complex I deficiency	947896
ENSG00000119401	TRIM32	11822024	254110	Muscular dystrophy, limb-girdle, type 2H	4269389
ENSG00000173599	PC	9585612	266150	Pyruvate carboxylase deficiency 	5771860
ENSG00000188158	NHS	14564667	302350	Nance-Horan syndrome	4470901
ENSG00000137868	STRA6	17273977	601186	Microphthalmia, isolated, with coloboma 8	724287
ENSG00000137868	STRA6	17273977	601186	Microphthalmia, syndromic 9	724287
ENSG00000117560	FASLG	8787672	601859	Autoimmune lymphoproliferative syndrome, type IB	4165068
ENSG00000235718	MFRP	15976030	609549	Nanophthalmos 2 	1258954
ENSG00000134323	MYCN	15821734	164280	Feingold syndrome 1	Feingold, M. Case report 30. Synd. Ident. 3: 16-17, 1975.
ENSG00000095970	TREM2	12080485	221770	Nasu-Hakola disease	Hakola, H. P. A. Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia. Acta Psychiat. Neurol. Scand. Suppl. 232: 1-173, 1972.
ENSG00000270141	TERC	11574891	127550	Dyskeratosis congenita, autosomal dominant 1	Scoggins, R. B., Prescott, K. J., Asher, G. H., Blaylock, W. K., Bright, R. W. Dyskeratosis congenita with Fanconi-type anemia: investigations of immunologic and other defects. (Abstract) Clin. Res. 19: 409 only, 1971.
ENSG00000136156	ITM2B	10781099	117300	Dementia, familial Danish	Stromgrem, E., Dalby, A., Dalby, M. A., Ranheim, B. Cataracts, deafness, cerebellar ataxia, psychosis, and dementia--a new syndrome. Acta Neurol. Scand. 46 (suppl. 43): 261-262, 1970.
ENSG00000117479	SLC19A2	10391221	249270	Thiamine-responsive megaloblastic anemia syndrome	Rogers, L. E., Porter, F. S., Sidbury, J. B., Jr. Thiamine-responsive megaloblastic anemia. J. Pediat. 74: 494-504, 1969.
ENSG00000139531	SUOX	9428520	272300	Sulfite oxidase deficiency 	Irreverre, F., Mudd, S. H., Heizer, W. D., Laster, L. Sulfite oxidase deficiency: studies of a patient with mental retardation, dislocated ocular lenses, and abnormal urinary excretion of S-sulfo-L-cysteine, sulfite and thiosulfate. Biochem. Med. 1: 187-199, 1967.
ENSG00000177189	RPS6KA3	8955270	303600	Coffin-Lowry syndrome 	Coffin, G. S., Siris, E., Wegienka, L. C. Mental retardation with osteocartilaginous anomalies. Am. J. Dis. Child. 112: 205-213, 1966.
ENSG00000066230	SLC9A3	26358773	616868	Diarrhea 8, secretory sodium, congenital	3880821
ENSG00000115267	IFIH1	24686847	615846	Aicardi-Goutieres syndrome 7	6712192
ENSG00000125848	FLRT3	23643382	615271	Hypogonadotropic hypogonadism 	6881209
ENSG00000158815	FGF17	23643382	615270	Hypogonadotropic hypogonadism 20	6881209
ENSG00000175206	NPPA	23275345	615745	Atrial standstill 2 	6225642
ENSG00000130921	C12orf65	23188110	615035	Spastic paraplegia 55, autosomal recessive	6303658
ENSG00000069431	ABCC9	22608503	239850	Hypertrichotic osteochondrodysplasia	7076246
ENSG00000066468	FGFR2	7874169	101600	Craniofacial-skeletal-dermatologic dysplasia	14316612
ENSG00000077782	FGFR1	7874169	101600	Pfeiffer syndrome	14316612
ENSG00000182533	CAV3	10746614	123320	Creatine phosphokinase, elevated serum	5422556
ENSG00000114270	COL7A1	8618021	132000	EBD, Bart type	5910871
ENSG00000122863	CHST3	15215498	143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	4814886
ENSG00000108821	COL1A1	6304100	166210	Osteogenesis imperfecta, type II	13139510
ENSG00000164692	COL1A2	6304100	166210	Osteogenesis imperfecta, type II	13139510
ENSG00000123700	KCNJ2	11371347	170390	Andersen syndrome	4106724
ENSG00000203859	HSD3B2	1363812	201810	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency	13968789
ENSG00000132549	VPS13B	12730828	216550	Cohen syndrome 	4717588
ENSG00000102743	SLC25A15	10369256	238970	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome	5782534
ENSG00000159423	ALDH4A1	9700195	239510	Hyperprolinemia, type II	4972625
ENSG00000152592	DMP1	17033625	241520	Hypophosphatemic rickets, AR	180907
ENSG00000167306	MYO5B	18724368	251850	Microvillus inclusion disease	100367
ENSG00000196811	CHRNG	16826531	253290	Multiple pterygium syndrome, lethal type	933128
ENSG00000196811	CHRNG	16826520	253290	Multiple pterygium syndrome, lethal type	933128
ENSG00000115204	MPV17	16582910	256810	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	185990
ENSG00000166794	PPIB	19781681	259440	Osteogenesis imperfecta, type IX	458828
ENSG00000170289	CNGB3	10888875	262300	Achromatopsia 3	4192495
ENSG00000204217	BMPR2	12446270	265450	Pulmonary venoocclusive disease 1 	4682413
ENSG00000143627	PKLR	1896471	266200	Pyruvate kinase deficiency 	13924348
ENSG00000139351	SYCP3	19110213	270960	Pregnancy loss, recurrent, 4	574357
ENSG00000172062	SMN1	7658877	271150	Spinal muscular atrophy-4	14295959
ENSG00000171100	MTM1	8640223	310400	Myotubular myopathy, X-linked	4954227
ENSG00000177192	PUS1	15108122	600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	4364695
ENSG00000120708	TGFBI	9054935	602082	Corneal dystrophy, Thiel-Behnke type	5301630
ENSG00000162430	SELENON	11528383	602771	Muscular dystrophy, rigid spine, 1	5115748
ENSG00000164951	PDP1	15855260	608782	Pyruvate dehydrogenase phosphatase deficiency 	172850
ENSG00000115525	ST3GAL5	15502825	609056	Salt and pepper developmental regression syndrome	4213132
ENSG00000159023	EPB41	3755799	611804	Elliptocytosis-1	13313518
ENSG00000119888	EPCAM	18572020	613217	Diarrhea 5, with tufting enteropathy, congenital	100367
ENSG00000074410	CA12	21035102	143860	Hyperchlorhidrosis, isolated	Greenburg, F., Schidlow, D., Palmer, N., Huang, N. Isolated hyperchlorhidrosis without evidence of cystic fibrosis in two brothers, a possible autosomal recessive trait. (Abstract) Am. J. Hum. Genet. 31: 73A only, 1979.
ENSG00000107796	ACTA2	17994018	611788	Aortic aneurysm, familial thoracic 6	Bixler, D., Antley, R. M. Familial aortic dissection with iris anomalies--a new connective tissue disease syndrome? Birth Defects Orig. Art. Ser. XII(5): 229-234, 1976.
ENSG00000046651	OFD1	16783569	300209	Simpson-Golabi-Behmel syndrome, type 2	J. L. Simpson, S. Landey, M. New, J. German: A previously unrecognized X-linked syndrome of dysmorphia. Birth Defects Original Article Series, New York, 1975, XI(2): 18-24
ENSG00000184056	VPS33B	15052268	208085	Arthrogryposis, renal dysfunction, and cholestasis 1	Lutz-Richner, A. R., Landolt, R. F. Familiaere Gallengangmissbildungen mit tubulaerer Niereninsuffizienz. Helv. Paediat. Acta 28: 1-12, 1973.
ENSG00000178209	PLEC	11851880	131950	Epidermolysis bullosa simplex, Ogna type	Gedde-Dahl, T., Jr. Epidermolysis Bullosa: A Clinical, Genetic and Epidemiological Study. Baltimore: Johns Hopkins Press (pub.) 1971.
ENSG00000134595	SOX3	12428212	300123	Mental retardation, X-linked, with isolated growth hormone deficiency	Phelan, P. D., Connelly, J., Martin, F. I. R., Wettenhall, H. N. B. X-linked recessive hypopituitarism. Birth Defects Orig. Art. Ser. VII(6): 24-27, 1971.
ENSG00000138796	HADH	11489939	609975	Hyperinsulinemic hypoglycemia, familial, 4	Gotlin, R. W., Silver, H. K. Neonatal hypoglycaemia, hyperinsulinism, and absence of pancreatic alpha-cells. (Letter) Lancet 295: 1346 only, 1970.
ENSG00000159921	GNE	10330343	269921	Sialuria 	Fontaine, G., Biserte, G., Montreuil, A., Dupont, A., Farriaux, J. P. La sialurie: un trouble metabolique original. Helv. Paediat. Acta 23 (suppl. XVII): 1-32, 1968.
ENSG00000135636	DYSF	9731526	254130	Miyoshi muscular dystrophy 1	Miyoshi, K., Saijo, K., Kuryu, T., Tada, Y., Otsuka, Y., Oshima, Y., Nakano, N., Kawai, H., Miyake, M., Okazawa, T., Kohama, T., Kunishige, A. Four cases of distal myopathy in two families. Jpn. J. Hum. Genet. 12: 113, 1967.
ENSG00000168447	SCNN1B	7954808	177200	Liddle syndrome	Liddle, G. W., Bledsoe, T., Coppage, W. S., Jr. A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans. Assoc. Am. Phys. 76: 199-213, 1963.
ENSG00000179142	CYP11B2	1594605	610600	Hypoaldosteronism, congenital, due to CMO II deficiency	Royer, P., Lestradet, H., de Menibus, C. H., Vermeil, G. Hypoaldosteronisme familial chronique a debut neo-natal. Ann. Paediat. 8: 133-138, 1961.
ENSG00000042832	TG	1752952	274700	Thyroid dyshormonogenesis 3	McGirr, E. M., Hutchison, J. H., Clement, W. E., Kennedy, J. S., Currie, A. R. Goitre and cretinism due to the production of an abnormal iodinated thyroid compound. Scot. Med. J. 5: 189-203, 1960.
ENSG00000148180	GSN	2176164	105120	Amyloidosis, Finnish type	Klaus, E., Freyberger, E., Kavka, G., Vodicka, F. Familial occurrence of a bulbar paralytic form of amyotrophic lateral sclerosis with reticular corneal dystrophy and cutis hyperelastica in 3 sisters. Psychiat. Neurol. 138: 79-97, 1959.
ENSG00000139219	COL2A1	26183434	616583	Spondyloepiphyseal dysplasia, Stanescu type	6430256
ENSG00000175213	ZNF408	23716654	616468	Exudative vitreoretinopathy 6	6897033
ENSG00000124813	RUNX2	23290074	156510	Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	7137223
ENSG00000147050	KDM6A	22197486	300867	Kabuki syndrome 2	7277096
ENSG00000079616	KIF22	22152677	603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	7209574
ENSG00000155755	TMEM237	22152675	614424	Joubert syndrome 14	7395917
ENSG00000178814	OPLAH	21651516	260005	5-oxoprolinase deficiency	6113726
ENSG00000139734	DIAPH3	20624953	609129	Auditory neuropathy, autosomal dominant, 1	223494
ENSG00000172987	HPSE2	20560209	236730	Urofacial syndrome 1	474623
ENSG00000134160	TRPM1	19878917	613216	Night blindness, congenital stationary (complete), 1C, autosomal recessive	308060
ENSG00000066468	FGFR2	7795583	101600	Pfeiffer syndrome	14316612
ENSG00000108821	COL1A1	2767050	130060	Ehlers-Danlos syndrome, type VIIA	13539092
ENSG00000164692	COL1A2	2767050	130060	Ehlers-Danlos syndrome, type VIIB	13539092
ENSG00000163554	SPTA1	3597773	130600	Elliptocytosis-2	13313518
ENSG00000066084	DIP2B	17236128	136630	Mental retardation, FRA12A type	1033912
ENSG00000134371	CDC73	12434154	145001	Hyperparathyroidism-jaw tumor syndrome	5279024
ENSG00000134371	CDC73	12434154	145001	Parathyroid adenoma with cystic changes	5279024
ENSG00000165474	GJB2	11918723	148210	Keratitis-ichthyosis-deafness syndrome	4119872
ENSG00000157404	KIT	10354021	154800	Mast cell disease	4235166
ENSG00000204248	COL11A2	7859284	184840	Weissenbacher-Zweymuller syndrome	14234962
ENSG00000148795	CYP17A1	9326943	202110	17,20-lyase deficiency, isolated	4288776
ENSG00000078070	MCCC1	11181649	210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency	4194964
ENSG00000138075	ABCG5	11099417	210250	Sitosterolemia 	5374042
ENSG00000143921	ABCG8	11099417	210250	Sitosterolemia 	5374042
ENSG00000146648	EGFR	18948947	211980	Adenocarcinoma of lung, response to tyrosine kinase inhibitor in	199100
ENSG00000139197	PEX5	7719337	214110	Peroxisome biogenesis disorder 2A (Zellweger)	14169466
ENSG00000242110	AMACR	12512044	214950	Bile acid synthesis defect, congenital, 4	5064535
ENSG00000173757	STAT5B	8977385	245590	Growth hormone insensitivity with immunodeficiency	5916640
ENSG00000137806	NDUFAF1	17557076	252010	Mitochondrial complex I deficiency	947896
ENSG00000196924	FLNA	17357080	300048	Intestinal pseudoobstruction, neuronal	1269170
ENSG00000102245	CD40LG	7679801	308230	Immunodeficiency, X-linked, with hyper-IgM	14451053
ENSG00000015285	WAS	7795648	313900	Thrombocytopenia, X-linked	14181113
ENSG00000015285	WAS	7795648	313900	Thrombocytopenia, X-linked, intermittent	14181113
ENSG00000124222	STX16	14561710	603233	Pseudohypoparathyroidism, type IB	5011390
ENSG00000099956	SMARCB1	19124645	609322	Rhabdoid predisposition syndrome 1 	206343
ENSG00000143341	HMCN1	16020313	603075	Macular degeneration, age-related, 1	Streiff, E. B., Babel, J. La senescence de la retine. Prog. Ophthal. 13: 1-75, 1963.
ENSG00000196218	RYR1	12719381	255320	Minicore myopathy with external ophthalmoplegia	Engel, A. G., Gomez, M. R., Groover, R. V. Multicore disease--a recognised congenital myopathy associated with multifocal degeneration of muscle fibres. Proc. Mayo Clin. 46: 661-681, 1971.
ENSG00000081087	OSTM1	12627228	259720	Osteopetrosis, autosomal recessive 5	Brown, D. M., Dent, P. B. Pathogenesis of osteopetrosis: a comparison of human and animal spectra. Pediat. Res. 5: 181-191, 1971.
ENSG00000157404	KIT	10362788	273300	Germ cell tumors	Hutter, A. M., Lynch, J. J., Shnider, B. I. Malignant testicular tumors in brothers: a case report. JAMA 199: 1009-1010, 1967.
ENSG00000080493	SLC4A4	10545938	604278	Renal tubular acidosis, proximal, with ocular abnormalities 	Soriano, J. R., Boichis, H., Stark, H., Edelmann, C. M., Jr. Proximal renal tubular acidosis: a defect in bicarbonate reabsorption with normal urinary acidification. Pediat. Res. 1: 81-98, 1967.
ENSG00000184937	WT1	9529364	256370	Nephrotic syndrome, type 4	Rossenbeck, H. G., Margraf, O., Hofmann, D. Ueber das infantile nephrotische Syndrom bei kongenitaler Glomerulonephritis. Dtsch. Med. Wschr. 91: 348-355, 1966.
ENSG00000114062	UBE3A	8988171	105830	Angelman syndrome	Angelman, H. 'Puppet children': a report of three cases. Dev. Med. Child Neurol. 7: 681-688, 1965.
ENSG00000027697	IFNGR1	8960475	209950	Immunodeficiency 	Engbaek, H. C. Three cases in the same family of fatal infection M. avium. Acta Tuberc. Scand. 45: 105-117, 1964.
ENSG00000027697	IFNGR1	8960473	209950	Immunodeficiency 	Engbaek, H. C. Three cases in the same family of fatal infection M. avium. Acta Tuberc. Scand. 45: 105-117, 1964.
ENSG00000090402	SI	8609217	222900	Sucrase-isomaltase deficiency, congenital	Durand, P. Disorders Due to Intestinal Defective Carbohydrate Digestion and Absorption. Rome: Il Pensiero Scientifico (pub.) 1964.
ENSG00000166828	SCNN1G	7550319	177200	Liddle syndrome	Liddle, G. W., Bledsoe, T., Coppage, W. S., Jr. A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans. Assoc. Am. Phys. 76: 199-213, 1963.
ENSG00000181523	SGSH	7493035	252900	Mucopolysaccharidosis type IIIA (Sanfilippo A)	Sanfilippo, S. J., Podosin, R., Langer, L. O., Jr., Good, R. A. Mental retardation associated with acid mucopolysacchariduria (heparitin sulfate type). J. Pediat. 63: 837-838, 1963.
ENSG00000170315	UBB	8105683	119540	Cleft palate, isolated	Curtis, E. J., Fraser, F. C., Warburton, D. Congenital cleft lip and palate. Am. J. Dis. Child. 102: 853-857, 1961.
ENSG00000007372	PAX6	1334370	106210	Aniridia	17948455
ENSG00000007372	PAX6	1334370	106210	Cataract with late-onset corneal dystrophy	17948455
ENSG00000149131	SERPING1	2723063	106100	Angioedema, hereditary, types I and II	13484317
ENSG00000136872	ALDOB	3383242	229600	Fructose intolerance	Chambers, R. A., Pratt, R. T. C. Idiosyncrasy to fructose. Lancet 268: 340 only, 1956. Note: Originally Volume II.
ENSG00000185010	F8	2986011	306700	Hemophilia A	Alexander, B., Goldstein, R. Dual hemostatic defect in pseudohemophilia. (Abstract) J. Clin. Invest. 32: 551 only, 1953.
ENSG00000178573	MAF	25865493	601088	Ayme-Gripp syndrome 	6432966
ENSG00000181722	ZBTB20	25017102	259050	Primrose syndrome	6809950
ENSG00000088256	GNA11	23802516	615361	Hypocalcemia, autosomal dominant 2	6278146
ENSG00000115665	SLC5A7	23141292	158580	Neuronopathy, distal hereditary motor, type VIIA	7420092
ENSG00000179348	GATA2	21892158	614038	Emberger syndrome 	295075
ENSG00000166813	KIF7	21633164	200990	Joubert syndrome 12 	457430
ENSG00000166813	KIF7	21552264	200990	Acrocallosal syndrome 	457430
ENSG00000112855	HARS2	21464306	614926	Perrault syndrome 2	517579
ENSG00000127241	MASP1	21035106	257920	3MC syndrome 1	690758
ENSG00000060718	COL11A1	21035103	228520	Fibrochondrogenesis 1	749746
ENSG00000152217	SETBP1	20436468	269150	Schinzel-Giedion midface retraction syndrome	665725
ENSG00000143627	PKLR	9090535	102900	Adenosine triphosphate, elevated, of erythrocytes	14300761
ENSG00000187098	MITF	8589691	103500	Tietz albinism-deafness syndrome	13985019
ENSG00000118271	TTR	6736244	105210	Amyloidosis, hereditary, transthyretin-related	12978172
ENSG00000152591	DSPP	12354781	125420	Dentin dysplasia, type II	5273848
ENSG00000103313	MEFV	10787449	134610	Familial Mediterranean fever, AD	5678100
ENSG00000177426	TGIF1	10835638	142946	Holoprosencephaly 4	5647374
ENSG00000005339	CREBBP	7630403	180849	Rubinstein-Taybi syndrome 1	13983033
ENSG00000064195	DLX3	9467018	190320	Trichodontoosseous syndrome	5906373
ENSG00000182533	CAV3	1975517	192600	Cardiomyopathy, familial hypertrophic	13499764
ENSG00000137700	SLC37A4	10931421	232220	Glycogen storage disease Ib	4300573
ENSG00000101247	NDUFAF5	18940309	252010	Mitochondrial complex 1 deficiency	947896
ENSG00000174886	NDUFA11	18306244	252010	Mitochondrial complex I deficiency	947896
ENSG00000135902	CHRND	18252226	253290	Multiple pterygium syndrome, lethal type	933128
ENSG00000138435	CHRNA1	18252226	253290	Multiple pterygium syndrome, lethal type	933128
ENSG00000121454	LHX4	11567216	262700	Pituitary hormone deficiency, combined, 4	4305958
ENSG00000107798	LIPA	8254026	278000	Cholesteryl ester storage disease	14008104
ENSG00000107798	LIPA	8254026	278000	Wolman disease	14008104
ENSG00000171365	CLCN5	8559248	300009	Dent disease	14169453
ENSG00000122145	TBX22	11559848	303400	Cleft palate with ankyloglossia	5771226
ENSG00000147383	NSDHL	10710235	308050	CHILD syndrome 	5696317
ENSG00000184895	SRY	3690661	400044	46XY sex reversal 1	13250193
ENSG00000184895	SRY	9652903	400045	46XX sex reversal 1	4161595
ENSG00000105618	PRPF31	11545739	600138	Retinitis pigmentosa 11	5764686
ENSG00000130529	TRPM4	19726882	604559	Progressive familial heart block, type IB	897853
ENSG00000092054	MYH7	14520662	608358	Myopathy, myosin storage, autosomal dominant	4104682
ENSG00000171595	DNAI2	18950741	612444	Ciliary dyskinesia, primary, 9, with or without situs inversus	1084576
ENSG00000233608	TWIST2	26119818	209885	Barber-Say syndrome 	Barber, N., Say, B., Bell, R. F., Merveille, O. C. Macrostomia, ectropion, atrophic skin, hypertrichosis, and growth retardation. Syndrome Ident. 8(1): 6-9, 1982.
ENSG00000157933	SKI	23023332	182212	Shprintzen-Goldberg syndrome	Shprintzen, R. J., Goldberg, R. B. Dysmorphic facies, omphalocele, laryngeal and pharyngeal hypoplasia, spinal anomalies, and learning disabilities in a new dominant malformation syndrome. Birth Defects Orig. Art. Ser. XV(5B): 347-353, 1979.
ENSG00000134760	DSG1	10332028	148700	Keratosis palmoplantaris striata I, AD	Bologna, E. I. Durch vier Generationenen dominant vererblich geschlechtsgebundene Keratosis palmaris striata (linearia). Derm. Wschr. 152: 446-457, 1966.
ENSG00000081923	ATP8B1	9500542	211600	Cholestasis, progressive familial intrahepatic 1	Clayton, R. J., Iber, F. L., Ruebner, B. H., McKusick, V. A. Byler's disease: fatal familial intrahepatic cholestasis in an Amish kindred. (Abstract) J. Pediat. 67: 1025-1028, 1965.
ENSG00000143224	PPOX	8852667	176200	Porphyria variegata	Hunter, R., Macalpine, I. Three Hundred Years of Psychiatry: 1538-1860. A History Presented in Selected English Texts. London, England: Oxford Univ. Press (pub.) 1963.
ENSG00000053918	KCNQ1	8528244	192500	Long QT syndrome 1	Romano, C., Gemme, G., Pongiglione, R. Aritmie cardiache rare dell' eta pediatrica. II. Accessi sincopali per fibrillazione ventricolare parossistica. (Presentazione del primo caso della letteratura pediatrica Italiana.) Clin. Pediat. 45: 656-683, 1963.
ENSG00000108784	NAGLU	8650226	252920	Mucopolysaccharidosis type IIIB (Sanfilippo B)	Sanfilippo, S. J., Podosin, R., Langer, L. O., Jr., Good, R. A. Mental retardation associated with acid mucopolysacchariduria (heparitin sulfate type). J. Pediat. 63: 837-838, 1963.
ENSG00000198947	DMD	3384440	300376	Becker muscular dystrophy 	Becker, P. E., Kiener, F. Eine neue X-chromosomale Muskeldystrophie. Arch . Psychiatr. Nervenkr. Z. Gesamte Neurol. Scand. 193: 427-448, 1955.
ENSG00000165821	SALL2	24412933	216820	Coloboma, ocular, autosomal recessive	7282780
ENSG00000243649	CFB	24152280	615561	Complement factor B deficiency	6898304
ENSG00000176022	B3GALT6	23664117	271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	7209574
ENSG00000112367	FIG4	23623387	216340	Yunis-Varon syndrome	7395825
ENSG00000095209	TMEM38B	23054245	615066	Osteogenesis imperfecta, type XIV	458828
ENSG00000206013	IFITM5	22863190	610967	Osteogenesis imperfecta, type V	458828
ENSG00000104763	ASAH1	22703880	159950	Spinal muscular atrophy with progressive myoclonic epilepsy	534421
ENSG00000075624	ACTB	22366783	243310	Baraitser-Winter syndrome 1	457136
ENSG00000168487	BMP1	22052668	614856	Osteogenesis imperfecta, type XIII	458828
ENSG00000163913	IFT122	20493458	218330	Cranioectodermal dysplasia 1	830894
ENSG00000157764	BRAF	16474404	115150	Cardiofaciocutaneous syndrome	4697981
ENSG00000184937	WT1	9398852	136680	Frasier syndrome	14149008
ENSG00000109099	PMP22	9818939	139393	Neuropathy, inflammatory demyelinating	4158808
ENSG00000120729	MYOT	10958653	159000	Muscular dystrophy, limb-girdle, type 1A	6053567
ENSG00000256269	HMBS	2563167	176000	Porphyria, acute intermittent	13354248
ENSG00000256269	HMBS	2563167	176000	Porphyria, acute intermittent, nonerythroid variant	13354248
ENSG00000184937	WT1	2163761	194070	Wilms tumor, type 1	13487328
ENSG00000126749	EMG1	19463982	211180	Bowen-Conradi syndrome 	Bowen, P., Conradi, G. J. Syndrome of skeletal and genitourinary anomalies with unusual facies and failure to thrive in Hutterite sibs. Birth Defects Orig. Art. Ser. XII(6): 101-108, 1976.
ENSG00000127980	PEX1	9398847	214100	Peroxisome biogenesis disorder 1A (Zellweger)	14169466
ENSG00000154646	TMPRSS15	11719902	226200	Enterokinase deficiency	4180366
ENSG00000117308	GALE	9700591	230350	Galactose epimerase deficiency	5319435
ENSG00000123545	NDUFAF4	19463981	252010	Mitochondrial complex I deficiency	947896
ENSG00000178057	NDUFAF3	19463981	252010	Mitochondrial complex I deficiency	947896
ENSG00000141458	NPC1	9211849	257220	Niemann-Pick disease, type C1	17948490
ENSG00000115705	TPO	1401057	274500	Thyroid dyshormonogenesis 2A	13830735
ENSG00000047597	XK	8004674	300842	McLeod syndrome with or without chronic granulomatous disease	13860532
ENSG00000184634	MED12	17334363	305450	Opitz-Kaveggia syndrome	4365204
ENSG00000101981	F9	3001143	306900	Hemophilia B 	12997790
ENSG00000165240	ATP7A	7731706	309400	Menkes disease 	14472668
ENSG00000169057	MECP2	10508514	312750	Rett syndrome	5300597
ENSG00000169057	MECP2	10508514	312750	Rett syndrome, atypical	5300597
ENSG00000169057	MECP2	10508514	312750	Rett syndrome, preserved speech variant	5300597
ENSG00000166033	HTRA1	19387015	600142	CARASIL syndrome 	971885
ENSG00000109501	WFS1	11709537	600965	Deafness, autosomal dominant 6/14/38	5663381
ENSG00000186868	MAPT	9029080	601104	Supranuclear palsy, progressive	14107684
ENSG00000113594	LIFR	14740318	601559	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome	4105362
ENSG00000128573	FOXP2	11586359	602081	Speech-language disorder-1 	5657070
ENSG00000235590	GNAS-AS1	15592469	603233	Pseudohypoparathyroidism, type IB	5011390
ENSG00000166349	RAG1	9630231	603554	Omenn syndrome	14328107
ENSG00000114054	PCCB	8188292	606054	Propionicacidemia	13693094
ENSG00000127415	IDUA	7550242	607015	Mucopolysaccharidosis Ih/s 	14498144
ENSG00000127415	IDUA	7550242	607016	Mucopolysaccharidosis Is 	14498144
ENSG00000119977	TCTN3	22883145	258860	Orofaciodigital syndrome IV	Temtamy, S. A., McKusick, V. A. The Genetics of Hand Malformations. New York: Alan R. Liss (pub.) 1978.
ENSG00000127472	PLA2G5	22137173	228980	Fleck retina, familial benign	rill, A. E. Hereditary Retinal and Choroidal Diseases: Flecked Retina Disease. Vol. 2. Hagerstown: Harper and Row (pub.) 1977. Pp. 739-819.
ENSG00000204655	MOG	21907016	614250	Narcolepsy 7	Westphal, C. C. Eigenthumliche mit Einschafen verbundene Anfalle. Arch. Psychiat. Nervenkr. 7: 681-683, 1877.
ENSG00000139679	LPAR6	18297072	278150	Hypotrichosis 8 	Hutchinson, P. E., Cairns, R. J., Wells, R. S. Woolly hair: clinical and general aspects. Trans. St. John's Hosp. Derm. Soc. 60: 160-177, 1974.
ENSG00000139679	LPAR6	18297072	278150	Woolly hair, autosomal recessive 1, with or without hypotrichosis	Hutchinson, P. E., Cairns, R. J., Wells, R. S. Woolly hair: clinical and general aspects. Trans. St. John's Hosp. Derm. Soc. 60: 160-177, 1974.
ENSG00000124370	MCEE	16752391	251120	Methylmalonyl-CoA epimerase deficiency	Kang, E. S., Snodgrass, P. J., Gerald, P. S. Methylmalonyl-CoA racemase defect: another cause of methylmalonic aciduria. (Abstract) Pediat. Res. 6: 393 only, 1972.
ENSG00000154134	ROBO3	15105459	607313	Gaze palsy, horizontal, with progressive scoliosis	Dretakis, E. K. [Familial idiopathic scoliosis associated with congenital encephalopathy in three children of the same family]. Acta Orthop. Traumatol. Hellenica 22: 51-55, 1970.
ENSG00000265107	GJA5	12522116	108770	Atrial standstill, digenic (GJA5/SCN5A)	16188595
ENSG00000053747	LAMA3	11810295	226650	Epidermolysis bullosa, generalized atrophic benign	Ridley, C. M., Levy, L. S. Epidermolysis bullosa and amyloidosis: a case report. Trans. St. John's Hosp. Derm. Soc. 54: 75-82, 1968.
ENSG00000091262	ABCC6	10835643	177850	Pseudoxanthoma elasticum, forme fruste	Wise, D. Hereditary disorders of connective tissues.In: Gottron, H.; Schnyder, U. : Vererbung von Hautkrankheiten. Berlin: Springer-Verlag (pub.) 1966. P. 471.
ENSG00000091262	ABCC6	10835642	177850	Pseudoxanthoma elasticum, forme fruste	Wise, D. Hereditary disorders of connective tissues.In: Gottron, H.; Schnyder, U. : Vererbung von Hautkrankheiten. Berlin: Springer-Verlag (pub.) 1966. P. 471.
ENSG00000091262	ABCC6	10811882	177850	Pseudoxanthoma elasticum, forme fruste	Wise, D. Hereditary disorders of connective tissues.In: Gottron, H.; Schnyder, U. : Vererbung von Hautkrankheiten. Berlin: Springer-Verlag (pub.) 1966. P. 471.
ENSG00000075043	KCNQ2	9430594	121200	Myokymia	Rett, A., Teubel, R. Neugeborenenkraempfe im Rahmen einer epileptisch belasteten Familie. Wien. Klin. Wschr. 76: 609-613, 1964.
ENSG00000075043	KCNQ2	9430594	121200	Seizures, benign neonatal, 1	Rett, A., Teubel, R. Neugeborenenkraempfe im Rahmen einer epileptisch belasteten Familie. Wien. Klin. Wschr. 76: 609-613, 1964.
ENSG00000204386	NEU1	8985184	256550	Sialidosis, type I	Sanfilippo, S. J., Yunis, J. J., Worthen, H. G. An unusual storage disease resembling the Hurler-Hunter syndrome. (Abstract) Am. J. Dis. Child. 104: 553 only, 1962.
ENSG00000204386	NEU1	8985184	256550	Sialidosis, type II	Sanfilippo, S. J., Yunis, J. J., Worthen, H. G. An unusual storage disease resembling the Hurler-Hunter syndrome. (Abstract) Am. J. Dis. Child. 104: 553 only, 1962.
ENSG00000074803	SLC12A1	8640224	601678	Bartter syndrome, type 1	F. C. Bartter, P. Pronove, J. R. Gill Jr, R. C. MacCardle: Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis: a new syndrome. American Journal of Medicine, New York, 1962, 33: 811-828.
ENSG00000068078	FGFR3	7670477	146000	Hypochondroplasia	Lamy, M., Maroteaux, P. Les Chondrodystrophies Genotypiques. Paris: L'Expansion Scientifique Francaise (pub.) 1961. P. 26.
ENSG00000185231	MC2R	8227361	202200	Glucocorticoid deficiency, due to ACTH unresponsiveness	Shepard, T. H., Landing, B. H., Mason, D. G. Familial Addison's disease. Case reports of two sisters with corticoid deficiency unassociated with hypoaldosteronism. Am. J. Dis. Child. 97: 154-162, 1959.
ENSG00000185231	MC2R	8094489	202200	Glucocorticoid deficiency, due to ACTH unresponsiveness	Shepard, T. H., Landing, B. H., Mason, D. G. Familial Addison's disease. Case reports of two sisters with corticoid deficiency unassociated with hypoaldosteronism. Am. J. Dis. Child. 97: 154-162, 1959.
ENSG00000155850	SLC26A2	1345170	222600	Diastrophic dysplasia	Mau, H. Wesen und Bedeutung der enchondralen Dysostosen. Stuttgart: Georg Thieme Verlag (pub.) 1958. P. 108ff.
ENSG00000155850	SLC26A2	1345170	222600	Diastrophic dysplasia, broad bone-platyspondylic variant	Mau, H. Wesen und Bedeutung der enchondralen Dysostosen. Stuttgart: Georg Thieme Verlag (pub.) 1958. P. 108ff.
ENSG00000188690	UROS	2331520	263700	Porphyria, congenital erythropoietic	Watson, C. J., Perman, V., Spurrell, F. A., Hoyt, H. H., Schwartz, S. Some studies of the comparative biology of human and bovine porphyria erythropoietica. Trans. Assoc. Am. Phys. 71: 196-209, 1956.
ENSG00000163631	ALB	3353369	616000	Analbuminemia 	Bennhold, H., Peters, H., Roth, E. Ueber einen Fall von kompletter Analbuminaemie ohne wesentliche klinische Krankheitszeichen. Verh. Dtsch. Ges. Inn. Med. 60: 630-634, 1954.
ENSG00000167468	GPX4	24706940	250220	Spondylometaphyseal dysplasia, Sedaghatian type	7211944
ENSG00000115657	ABCB6	23180570	609153	Pseudohyperkalemia, familial, 2, due to red cell leak	89283
ENSG00000173175	ADCY5	22782511	606703	Dyskinesia, familial, with facial myokymia	152174
ENSG00000065135	GNAI3	22560091	602483	Auriculocondylar syndrome 1	694432
ENSG00000118777	ABCG2	22246507	614490	Junior blood group system	567888
ENSG00000110074	FOXRED1	20818383	252010	Mitochondrial complex I deficiency	1027147
ENSG00000151413	NUBPL	20818383	252010	Mitochondrial complex I deficiency	1027147
ENSG00000169105	CHST14	20004762	601776	Ehlers-Danlos syndrome, musculocontractural type 1	1184396
ENSG00000160801	PTH1R	19061984	125350	Failure of tooth eruption, primary	4851123
ENSG00000182197	EXT1	7550340	133700	Exostoses, multiple, type 1	13754517
ENSG00000204843	DCTN1	19136952	168605	Perry syndrome 	1122173
ENSG00000115474	KCNJ13	18179896	193230	Snowflake vitreoretinal degeneration	4812083
ENSG00000197969	VPS13A	11381253	200150	Choreoacanthocytosis	4255726
ENSG00000159459	UBR1	16311597	243800	Johanson-Blizzard syndrome	5171616
ENSG00000141458	NPC1	9634529	257220	Niemann-Pick disease, type D	17948490
ENSG00000171105	INSR	2121734	262190	Rabson-Mendenhall syndrome 	13302174
ENSG00000172893	DHCR7	9653161	270400	Smith-Lemli-Opitz syndrome 	14119520
ENSG00000172893	DHCR7	9634533	270400	Smith-Lemli-Opitz syndrome 	14119520
ENSG00000196924	FLNA	12612583	305620	Frontometaphyseal dysplasia 1	5807657
ENSG00000102172	SMS	14508504	309583	Mental retardation, X-linked, Snyder-Robinson type	5823961
ENSG00000105610	KLF1	18487511	111150	Blood group--Lutheran inhibitor	4682512
ENSG00000160299	PCNT	18174396	210720	Microcephalic osteodysplastic primordial dwarfism, type II	Brizard, J., Mimouni, M., Seneze, J., Thoyer-Rozat, J. Sur un cas de nanisme extreme a debut intra-uterin vraisemblablement du type Seckel. Ann. Pediat. 20: 655-660, 1973.
ENSG00000133020	MYH8	15282353	158300	Trismus-pseudocamptodactyly syndrome	Hecht, F., Beals, R. K. Inability to open the mouth fully: an autosomal dominant phenotype with facultative camptodactyly and short stature. Birth Defects Orig. Art. Ser. V(3): 96-98, 1969.
ENSG00000160882	CYP11B1	2022736	202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency	Eberlein, W. R., Bongiovanni, A. M. Plasma and urinary corticosteroids in the hypertensive form of adrenal hyperplasia. J. Biol. Chem. 223: 85-94, 1956.
ENSG00000165168	CYBB	2556453	306400	Chronic granulomatous disease, X-linked	Janeway, C. A., Craig, J., Davidson, M., Downey, W., Gitlin, D., Sullivan, J. C. Hypergammaglobulinemia associated with severe recurrent and chronic nonspecific infection. Am. J. Dis. Child 88: 388-392, 1954.
ENSG00000101868	POLA1	27019227	301220	Pigmentary disorder, reticulate, with systemic manifestations, X-linked	6794369
ENSG00000134504	KCTD1	23541344	181270	Scalp-ear-nipple syndrome	708615
ENSG00000100014	SPECC1L	21703590	600251	Facial clefting, oblique, 1	820824
ENSG00000164946	FREM1	21507892	248450	Manitoba oculotrichoanal syndrome	820824
ENSG00000143183	TMCO1	20018682	213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	1204988
ENSG00000172572	PDE3A	18086950	112410	Hypertension and brachydactyly syndrome	4774535
ENSG00000136997	MYC	8220424	113970	Burkitt lymphoma	13628987
ENSG00000136352	NKX2-1	11971878	118700	Chorea, hereditary benign	4225827
ENSG00000073282	TP63	12766194	129400	Orofacial cleft 8	5713637
ENSG00000073282	TP63	12766194	129400	Rapp-Hodgkin syndrome	5713637
ENSG00000162551	ALPL	1409720	146300	Hypophosphatasia, adult	13410963
ENSG00000162551	ALPL	1409720	146300	Odontohypophosphatasia	13410963
ENSG00000145888	GLRA1	8298642	149400	Hyperekplexia, hereditary 1, autosomal dominant or recessive	13594585
ENSG00000171714	ANO5	15124103	166260	Gnathodiaphyseal dysplasia 	5816667
ENSG00000162551	ALPL	1409720	241510	Hypophosphatasia, childhood	13410963
ENSG00000109861	CTSC	10662807	245010	Haim-Munk syndrome	14252683
ENSG00000248098	BCKDHA	2703538	248600	Maple syrup urine disease, type Ia	13214961
ENSG00000112077	RHAG	8563755	268150	Anemia, hemolytic, Rh-null, regulator type	13782143
ENSG00000130203	APOE	11095479	269600	Sea-blue histiocyte disease	14320759
ENSG00000133104	SPART	12134148	275900	Troyer syndrome	6022528
ENSG00000165704	HPRT1	11891689	300323	HPRT-related gout 	4291947
ENSG00000147044	CASK	19377476	300422	Mental retardation, with or without nystagmus	4365204
ENSG00000147044	CASK	19200522	300422	FG syndrome 4 	4365204
ENSG00000137745	MMP13	16167086	602111	Metaphyseal anadysplasia 1	4252978
ENSG00000137745	MMP13	16167086	602111	Spondyloepimetaphyseal dysplasia, Missouri type	4252978
ENSG00000128683	GAD1	15571623	603513	Cerebral palsy, spastic quadriplegic, 1	5824822
ENSG00000184908	CLCNKB	9326936	607364	Bartter syndrome, type 3	13969763
ENSG00000135541	AHI1	15322546	608629	Joubert syndrome-3 	5816874
ENSG00000144061	NPHP1	15138899	609583	Joubert syndrome 4 	5816874
ENSG00000183691	NOG	17668388	611377	Brachydactyly, type B2	4648959
ENSG00000166396	SERPINB7	24207119	615598	Palmoplantar keratoderma, Nagashima type	Nagashima, M. Palmoplantar keratoses.In: Miura, O.; Ochiai, K. (eds.) : Clinics and Genetics. Vol. 9. Inheritance of Dermatological and Urological Diseases. Tokyo: Igaku-Shoin 1977. Pp. 23-27.
ENSG00000165458	INPPL1	23273567	258480	Opsismodysplasia	Zonana, J., Rimoin, D. L., Lachman, R. S., Cohen, A. H. A unique chondrodysplasia secondary to a defect in chondroosseous transformation.In: Bergsma, D.; Lowry, R. B. : Embryology and Pathogenesis and Prenatal Diagnosis. New York: Alan R. Liss (pub.) 1977.
ENSG00000167522	ANKRD11	21782149	148050	KBG syndrome	Herrmann, J., Pallister, P. D., Tiddy, W., Opitz, J. M. The KBG syndrome--a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. Birth Defects Orig. Art. Ser. XI(5): 7-18, 1975.
ENSG00000119121	TRPM6	12032570	602014	Hypomagnesemia 1, intestinal	Salet, J., Polonovski, C., De Gouyon, F., Pean, G., Melekian, B., Fournet, J.-P. Tetanie hypocalcemique recidivante par hypomagnesemie congenitale: une maladie metabolique nouvelle. Arch. Franc. Pediat. 23: 749-768, 1966.
ENSG00000119121	TRPM6	12032568	602014	Hypomagnesemia 1, intestinal	Salet, J., Polonovski, C., De Gouyon, F., Pean, G., Melekian, B., Fournet, J.-P. Tetanie hypocalcemique recidivante par hypomagnesemie congenitale: une maladie metabolique nouvelle. Arch. Franc. Pediat. 23: 749-768, 1966.
ENSG00000077782	FGFR1	11297579	147950	Hypogonadotropic hypogonadism 2 with or without anosmia	Rosen, S. W. The syndrome of hypogonadism, anosmia and midline cranial anomalies. (Abstract) Proceedings of the 47th Meeting of the Endocrine Society, New York 1965.
ENSG00000183691	NOG	11545688	186570	Tarsal-carpal coalition syndrome	Strasburger, A. K., Hawkins, M. R., Eldridge, R., Hargrave, R. L., McKusick, V. A. Symphalangism: genetic and clinical aspects. Bull. Johns Hopkins Hosp. 117: 108-127, 1965
ENSG00000163132	MSX1	11369996	189500	Ectodermal dysplasia 3, Witkop type	Witkop, C. J., Jr. Genetic disease of the oral cavity.In: Tiecke, R. W. (ed.) : Oral Pathology. New York: McGraw-Hill (pub.) 1965. Pp. 810-814.
ENSG00000160211	G6PD	1611091	300908	Hemolytic anemia due to G6PD deficiency	Carson, P. E., Flanagan, C. L., Ickes, C. E., Alving, A. S. Enzymatic deficiency in primaquine-sensitive erythrocytes. Science 124: 484-485, 1956.
ENSG00000081014	AP4E1	26544806	184450	Stuttering, familial persistent, 1	554863
ENSG00000156709	AIFM1	25986071	300614	Deafness, X-linked 5	223494
ENSG00000120498	TEX11	25970010	309120	Spermatogenic failure, X-linked, 2	574357
ENSG00000122145	TBX22	22784330	302905	Abruzzo-Erickson syndrome,	839509
ENSG00000119013	NDUFB3	22277967	252010	Mitochondrial complex I deficiency	947896
ENSG00000171456	ASXL1	21706002	605039	Bohring-Opitz syndrome 	1190170
ENSG00000168237	GLYCTK	20949620	220120	D-glyceric aciduria	4434100
ENSG00000196924	FLNA	20583181	300244	Terminal osseous dysplasia 	4452723
ENSG00000171714	ANO5	20096397	611307	Muscular dystrophy, limb-girdle, type 2L	4834543
ENSG00000111676	ATN1	8136840	125370	Dentatorubro-pallidoluysian atrophy	13517487
ENSG00000196218	RYR1	18765655	145600	King-Denborough syndrome	4109748
ENSG00000179295	PTPN11	12058348	151100	LEOPARD syndrome 1	5921856
ENSG00000004939	SLC4A1	9312167	179800	Renal tubular acidosis, distal, AD 	13739450
ENSG00000163666	HESX1	9620767	182230	Growth hormone deficiency with pituitary anomalies	13884418
ENSG00000163666	HESX1	9620767	182230	Pituitary hormone deficiency, combined, 5	13884418
ENSG00000163666	HESX1	9620767	182230	Septooptic dysplasia	13884418
ENSG00000231852	CYP21A2	1644925	201910	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	13286340
ENSG00000141510	TP53	12619118	202300	Adrenal cortical carcinoma 	6016796
ENSG00000088836	SLC4A11	17220209	217400	Corneal endothelial dystrophy and perceptive deafness 	5312820
ENSG00000125863	MKKS	10802661	236700	McKusick-Kaufman syndrome	14172277
ENSG00000090487	SPG21	14564668	248900	Mast syndrome	6024251
ENSG00000277893	SRD5A2	1944596	264600	Pseudovaginal perineoscrotal hypospadias	13292210
ENSG00000022267	FHL1	18274675	300717	Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset	4117299
ENSG00000126953	TIMM8A	8841189	304700	Mohr-Tranebjaerg syndrome 	13771732
ENSG00000044446	PHKA2	7847371	306000	Glycogen storage disease, type IXa1	13646331
ENSG00000105929	ATP6V0A4	10973252	602722	Renal tubular acidosis, distal, autosomal recessive	14194734
ENSG00000175097	RAG2	11313270	603554	Omenn syndrome 	14328107
ENSG00000183873	SCN5A	14523039	608567	Sick sinus syndrome 1	6029120
ENSG00000106367	AP1S1	19057675	609313	MEDNIK syndrome	4342731
ENSG00000115486	GGCX	17110937	610842	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency	5548470
ENSG00000088926	F11	2813350	612416	Factor XI deficiency, autosomal dominant	13037836
ENSG00000088926	F11	2813350	612416	Factor XI deficiency, autosomal recessive	13037836
ENSG00000164953	TMEM67	19508969	613550	Nephronophthisis 11 	4688793
ENSG00000179270	C2orf71	20398886	613428	Retinitis pigmentosa 54	Pinckers, A., Otto, A. J., Van den Heuvel, J. E. A. A family pedigree with corneal dystrophy, tapetoretinal degeneration and albinism. Acta Ophthal. (Copenh.) 51: 445-460, 1973.
ENSG00000187796	CARD9	19864672	212050	Candidiasis, familial, 2, autosomal recessive	Higgs, J. M., Wells, R. S. Chronic muco-cutaneous candidiasis: associated abnormalities of iron metabolism. Brit. J. Derm. 86 (suppl. 8): 88-102, 1972.
ENSG00000187676	B3GLCT	16909395	261540	Peters-plus syndrome	Krause, U., Koivisto, M., Rantakallio, P. A case of Peters syndrome with spontaneous corneal perforation. J. Pediat. Ophthal. 6: 145-149, 1969.
ENSG00000106105	GARS	12690580	600794	Neuropathy, distal hereditary motor, type VA	Silver, J. R. Familial spastic paraplegia with amyotrophy of the hands. J. Neurol. Neurosurg. Psychiat. 29: 135-144, 1966.
ENSG00000183072	NKX2-5	9651244	108900	Atrial septal defect 7, with or without AV conduction defects	13783833
ENSG00000111713	GYS2	9691087	240600	Glycogen storage disease 0, liver	Broberger, O., Zetterstrom, R. Hypoglycemia with an inability to increase the epinephrine secretion in insulin-induced hypoglycemia. J. Pediat. 59: 215-222, 1961.
ENSG00000144061	NPHP1	9856524	266900	Senior-Loken syndrome-1 	B. Senior, A. I. Friedmann, J. L. Brando: Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. American Journal of Ophthalmology, Chicago, 1961, 52: 625-633.  
ENSG00000105928	GSDME	9771715	600994	Deafness, autosomal dominant 5	Dolowitz, D. A., Stephens, F. E. Hereditary nerve deafness. Ann. Otolaryng. 70: 851-859, 1961.
ENSG00000171862	PTEN	9140396	158350	Cowden syndrome 1	Riley, H. D., Jr., Smith, W. R. Macrocephaly, pseudopapilledema and multiple hemangiomata: a previously undescribed heredofamilial syndrome. Pediatrics 26: 293-300, 1960.
ENSG00000107521	HPS1	8896559	203300	Hermansky-Pudlak syndrome 1	F. Hermansky, P. Pudlak: Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood, New York, 1959, 14: 162-169. 
ENSG00000196218	RYR1	8220423	117000	Central core disease	Shy, G. M., Magee, K. R. A new congenital non-progressive myopathy. Brain 79: 610-621, 1956
ENSG00000196218	RYR1	8220423	117000	Neuromuscular disease, congenital, with uniform type 1 fiber	Shy, G. M., Magee, K. R. A new congenital non-progressive myopathy. Brain 79: 610-621, 1956
ENSG00000196218	RYR1	8220422	117000	Central core disease	Shy, G. M., Magee, K. R. A new congenital non-progressive myopathy. Brain 79: 610-621, 1956
ENSG00000196218	RYR1	8220422	117000	Neuromuscular disease, congenital, with uniform type 1 fiber	Shy, G. M., Magee, K. R. A new congenital non-progressive myopathy. Brain 79: 610-621, 1956
ENSG00000128739	SNRPN	8242060	176270	Prader-Willi syndrome	Prader, A., Labhart, A., Willi, H. Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach Myatonieartigem Zustand im Neugeborenenalter. Schweiz. Med. Wschr. 86: 1260-1261, 1956.
ENSG00000133059	DSTYK	28157540	270750	Spastic paraplegia 23	7441281
ENSG00000001497	LAS1L	25644381	309585	Wilson-Turner syndrome	758423
ENSG00000197594	ENPP1	24075184	615522	Cole disease 	132904
ENSG00000196924	FLNA	23037936	300048	Congenital short bowel syndrome	1269170
ENSG00000006530	AGK	22277967	212350	Sengers syndrome 	1168700
ENSG00000106688	SLC1A1	21123949	222730	Dicarboxylic aminoaciduria	4810805
ENSG00000174705	SH3PXD2B	20137777	249420	Frank-ter Haar syndrome	4805907
ENSG00000089225	TBX5	8988165	142900	Holt-Oram syndrome	14402857
ENSG00000089225	TBX5	8988164	142900	Holt-Oram syndrome	14402857
ENSG00000162337	LRP5	12579474	144750	Hyperostosis, endosteal	5329553
ENSG00000162337	LRP5	12579474	144750	Osteosclerosis	5329553
ENSG00000165474	GJB2	15482471	149200	Bart-Pumphrey syndrome	6015974
ENSG00000204217	BMPR2	10973254	178600	Pulmonary hypertension, familial primary, 1, with or without HHT	14053563
ENSG00000204217	BMPR2	10903931	178600	Pulmonary hypertension, familial primary, 1, with or without HHT	14053563
ENSG00000049540	ELN	8132745	185500	Supravalvar aortic stenosis	13408018
ENSG00000183072	NKX2-5	10587520	187500	Tetralogy of Fallot	13943847
ENSG00000168303	MPLKIP	15645389	234050	Trichothiodystrophy 4, nonphotosensitive	5645693
ENSG00000107099	DOCK8	19776401	243700	Hyper-IgE recurrent infection syndrome, autosomal recessive	5059313
ENSG00000083123	BCKDHB	2022752	248600	Maple syrup urine disease, type Ib, 248	13214961
ENSG00000137992	DBT	1990841	248600	Maple syrup urine disease, type II	13214961
ENSG00000166311	SMPD1	2023926	257200	Niemann-Pick disease, type A	13138710
ENSG00000105641	SLC5A5	9171822	274400	Thyroid dyshormonogenesis 1	13833727
ENSG00000132763	MMACHC	16311595	277400	Methylmalonic aciduria and homocystinuria, cblC type	5792556
ENSG00000185344	ATP6V0A2	18157129	278250	Wrinkly skin syndrome	5579863
ENSG00000165194	PCDH19	18469813	300088	Epileptic encephalopathy, early infantile, 9	5116697
ENSG00000044446	PHKA2	8733134	306000	Glycogen storage disease, type IXa2	13646331
ENSG00000196924	FLNA	12612583	309350	Melnick-Needles syndrome	5938049
ENSG00000123560	PLP1	8012387	312920	Spastic paraplegia 2, X-linked	13406703
ENSG00000170835	CEL	16369531	609812	Maturity-onset diabetes of the young, type VIII	4183910
ENSG00000011465	DCN	15671264	610048	Corneal dystrophy, congenital stromal	5304426
ENSG00000198707	CEP290	16682973	610188	Joubert syndrome 5 	5816874
ENSG00000187240	DYNC2H1	19442771	613091	Short-rib thoracic dysplasia 3 with or without polydactyly	5058513
ENSG00000198286	CARD11	18323416	616452	B-cell expansion with NFKB and T-cell anergy	5540480
ENSG00000145675	PIK3R1	23810378	269880	SHORT syndrome 	Gorlin, R. J. A selected miscellany. Birth Defects Orig. Art. Ser. XI(2): 46-48, 1975.
ENSG00000135925	WNT10A	19559398	224750	Schopf-Schulz-Passarge syndrome	Schopf, E., Schulz, H.-J., Passarge, E. Syndrome of cystic eyelids, palmo-plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait. Birth Defects Orig. Art. Ser. VII(8): 219-221, 1971.
ENSG00000153283	CD96	17847009	211750	C syndrome 	Opitz, J. M., Johnson, R. C., McCreadie, S. R., Smith, D. W. The C syndrome of multiple congenital anomalies. Birth Defects Orig. Art. Ser. V(2): 161-166, 1969.
ENSG00000166710	B2M	16549777	241600	Immunodeficiency 43	Waldmann, T. A., Miller, E. J., Terry, W. D. Hypercatabolism of IgG and albumin: a new familial disorder. (Abstract) Clin. Res. 16: 45 only, 1968
ENSG00000111670	GNPTAB	15633164	252500	Mucolipidosis II alpha/beta	Demars, R. I., Leroy, J. G. The remarkable cells cultured from a human with Hurler's syndrome. An approach to visual selection for in vitro genetic studies. In Vitro 2: 107, 1967.
ENSG00000152137	HSPB8	15122253	158590	Neuropathy, distal hereditary motor, type IIA	Nelson, J. W., Amick, L. D. Heredofamilial progressive spinal muscular atrophy: a clinical and electromyographic study of a kinship. (Abstract) Neurology 16: 306 only, 1966.
ENSG00000168000	BSCL2	14981520	600794	Neuropathy, distal hereditary motor, type VA	Silver, J. R. Familial spastic paraplegia with amyotrophy of the hands. J. Neurol. Neurosurg. Psychiat. 29: 135-144, 1966.
ENSG00000179295	PTPN11	11704759	163950	Noonan syndrome 1	J. A. Noonan, D.A. Ehmke: Associated noncardiac malformations in children with congenital heart disease. [Abstract] Journal of Pediatrics, St. Louis, 1963, 63: 468-470. 
ENSG00000269900	RMRP	11207361	250250	Cartilage-hair hypoplasia	Theodorou, S. D., Adams, J. An unusual case of metaphyseal dysplasia. J. Bone Joint Surg. Br. 45: 364-369, 1963.
ENSG00000165029	ABCA1	10431236	205400	Tangier disease 	Fredrickson, D. S., Altrocchi, P. H., Avioli, L. V., Goodman, D. S., Goodman, H. C. Tangier disease. Ann. Intern. Med. 55: 1016-1031, 1961.
ENSG00000106692	FKTN	9690476	253800	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Fukuyama, Y., Kawazura, M., Haruna, H. A peculiar form of congenital progressive muscular dystrophy: report of fifteen cases. Paediat. Univ. Tokyo 4: 5-8, 1960.
ENSG00000120708	TGFBI	9054935	122200	Corneal dystrophy, lattice type I	Frayer, W. C., Blodi, F. C. The lattice type of familial corneal degeneration: a histopathologic study. Arch. Ophthal. 61: 712-719, 1959.
ENSG00000120156	TEK	8980225	600195	Venous malformations, multiple cutaneous and mucosal	Bean, W. B. Vascular Spiders and Related Lesions of the Skin. Springfield, Ill.: Charles C. Thomas (pub.) 1958. Pp. 178-185.
ENSG00000177409	SAMD9L	27259050	159550	Ataxia-pancytopenia syndrome	283689
ENSG00000074181	NOTCH3	25394726	130720	Lateral meningocele syndrome	830893
ENSG00000181192	DHTKD1	23141293	204750	2-aminoadipic 2-oxoadipic aciduria 	4442872
ENSG00000203667	COX20	23125284	220110	Mitochondrial complex IV deficiency	1127539
ENSG00000103335	PIEZO1	22529292	194380	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	4851153
ENSG00000067836	ROGDI	22424600	226750	Kohlschutter-Tonz syndrome	4372200
ENSG00000106462	EZH2	22177091	277590	Weaver syndrome	4366187
ENSG00000119686	FLVCR2	20206334	225790	Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome	4555262
ENSG00000165671	NSD1	11896389	117550	Sotos syndrome 1	14148233
ENSG00000104237	RP1	10391211	180100	Retinitis pigmentosa 1	13860992
ENSG00000147465	STAR	7892608	201710	Lipoid adrenal hyperplasia	13512944
ENSG00000168447	SCNN1B	16207733	211400	Bronchiectasis with or without elevated sweat chloride 1	5006763
ENSG00000142798	HSPG2	11101850	255800	Schwartz-Jampel syndrome, type 1	13909723
ENSG00000114491	UMPS	9042911	258900	Orotic aciduria	13651334
ENSG00000168000	BSCL2	14981520	270685	Silver spastic paraplegia syndrome 	5964029
ENSG00000159650	UROC1	19304569	276880	Urocanase deficiency	5124677
ENSG00000168288	MMADHC	18385497	277410	Homocystinuria, cblD type, variant 1	5524089
ENSG00000168288	MMADHC	18385497	277410	Methylmalonic aciduria and homocystinuria, cblD type	5524089
ENSG00000168288	MMADHC	18385497	277410	Methylmalonic aciduria, cblD type, variant 2	5524089
ENSG00000169297	NR0B1	7990958	300200	Adrenal hypoplasia, congenital	13381433
ENSG00000126895	AVPR2	15872203	300539	Nephrogenic syndrome of inappropriate antidiuresis	5337379
ENSG00000102001	CACNA1F	12111638	300600	Aland Island eye disease 	14230113
ENSG00000049089	COL9A2	8528240	600204	Epiphyseal dysplasia, multiple, 2	13560805
ENSG00000164953	TMEM67	17160906	610688	Joubert syndrome 6 	5816874
ENSG00000103494	RPGRIP1L	17558409	611560	Joubert syndrome 7	5816874
ENSG00000112619	PRPH2	8485576	613105	Choriodal dystrophy, central areolar 2	13410569
ENSG00000080603	SRCAP	22265015	136140	Floating-Harbor syndrome	Pelletier, G., Feingold, M. Case report 1. Syndrome Ident. 1: 8-9, 1973.
ENSG00000108950	FAM20A	21549343	204690	Amelogenesis imperfecta, type IG (enamel-renal syndrome)	MacGibbon, D. Generalized enamel hypoplasia and renal dysfunction. Aust. Dent. J. 17: 61-63, 1972.
ENSG00000204406	MBD5	17847001	156200	Mental retardation, autosomal dominant 1	Dekaban, A. S., Klein, D. Familial mental retardation. Acta Genet. Statist. Med. 18: 206-228, 1968.
ENSG00000104313	EYA1	16441263	166780	Otofaciocervical syndrome	Fara, M., Chlupackova, V., Hrivnakova, J. Dismorphia oto-facio-cervicalis familiaris. Acta Chir. Plast. 9: 255-268, 1967.
ENSG00000197496	SLC2A10	16550171	208050	Arterial tortuosity syndrome 	Ertugrel, A. Diffuse tortuosity and lengthening of the arteries. Circulation 36: 400-407, 1967.
ENSG00000139219	COL2A1	16752401	609508	Stickler sydrome, type I, nonsyndromic ocular	G. B. Stickler, D. G. Pugh: Hereditary progressive arthroophthalmopathy: II Additional observations of vertebral abnormalities, a hearing defect, and a report of a similar case. Mayo Clinic Proceedings, Rochester, Minnesota, 1967, 42: 495-500. 
ENSG00000112280	COL9A1	16909383	614134	Stickler syndrome, type IV	G. B. Stickler, D. G. Pugh: Hereditary progressive arthroophthalmopathy: II Additional observations of vertebral abnormalities, a hearing defect, and a report of a similar case. Mayo Clinic Proceedings, Rochester, Minnesota, 1967, 42: 495-500. 
ENSG00000110243	APOA5	16200213	144650	Hyperchylomicronemia, late-onset	Fredrickson, D. S., Lees, R. S. Familial hyperlipoproteinemia.In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S. (eds.) : The Metabolic Basis of Inherited Disease. (2nd ed.) New York: McGraw-Hill (pub.) 1966.
ENSG00000167749	KLK4	15235027	204700	Amelogenesis imperfecta, type IIA1	Witkop, C. J., Jr. Genetic disease of the oral cavity.In: Tiecke, R. W. : Oral Pathology. New York: McGraw-Hill (pub.) 1965.
ENSG00000198836	OPA1	12566046	125250	Optic atrophy plus syndrome	Gernet, H. Hereditaere Opticusatrophie in Kombination mit Taubheit. Dtsch. Ophthal. Ges. 65: 545-547, 1964.
ENSG00000087460	GNAS	11784876	166350	Osseous heteroplasia, progressive	Peterson, W. C., Jr., Mandel, S. L. Primary osteomas of skin. Arch. Derm. 87: 626-632, 1963.
ENSG00000162399	BSND	11687798	602522	Sensorineural deafness with mild renal dysfunction	F. C. Bartter, P. Pronove, J. R. Gill Jr, R. C. MacCardle: Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis: a new syndrome. American Journal of Medicine, New York, 1962, 33: 811-828.
ENSG00000139330	KERA	10802664	217300	Cornea plana 2, autosomal recessive	Felix, C. H. Congenitale familiaere Cornea plana. Klin. Monatsbl. Augenheilkd. 74: 710-716, 1925. Note: See Also: Pedigree, Fig. 345, P. 448 of Waardenburg, P. J., Franceschetti, A. and Klein, D. (eds.): Genetics and Ophthalmology. Vol. 1. Springfield, Ill.: Charles C Thomas, 1961.
ENSG00000104763	ASAH1	8955159	228000	Farber lipogranulomatosis	Farber, S., Cohen, J., Uzman, L. L. Lipogranulomatosis: a new lipo-glyco-protein 'storage' disease. J. Mt. Sinai Hosp. 24: 816-837, 1957
ENSG00000180210	F2	7740448	613679	Hypoprothrombinemia 	Quick, A. J., Pisciotta, A. V., Hussey, C. V. Congenital hypoprothrombinemic states. Arch. Intern. Med. 95: 2-14, 1955.
ENSG00000196712	NF1	2134734	162200	Neurofibromatosis, type 1	Borberg, A. Clinical and genetic investigations into tuberous sclerosis and Recklinghausen's neurofibromatosis: contribution to elucidation of interrelationship and eugenics of the syndromes. Acta Psychiat. Neurol. 71 (suppl.): 1-239, 1951.
ENSG00000123342	MMP19	25581579	611543	Cavitary optic disc anomalies	945057
ENSG00000256053	APOPT1	25175347	220110	Mitochondrial complex IV deficiency	1127539
ENSG00000229833	PET100	24462369	220110	Mitochondrial complex IV deficiency	1127539
ENSG00000069011	PITX1	23022097	186550	Liebenberg syndrome	4702300
ENSG00000008441	NFIX	20673863	602535	Marshall-Smith syndrome 	4321601
ENSG00000179295	PTPN11	20577567	156250	Metachondromatosis	5313319
ENSG00000197603	C5orf42	20512146	277170	Orofaciodigital syndrome VI	5146584
ENSG00000166546	BEAN1	19878914	117210	Spinocerebellar ataxia 31	5535038
ENSG00000080819	CPOX	8012360	121300	Coproporphyria, Harderoporphyria	14378650
ENSG00000070193	FGF10	16630169	149730	LADD syndrome	6066655
ENSG00000066468	FGFR2	16501574	149730	LADD syndrome	6066655
ENSG00000068078	FGFR3	16501574	149730	LADD syndrome	6066655
ENSG00000140521	POLG	11756592	157640	Progressive external ophthalmoplegia, autosomal dominant 1	14467368
ENSG00000079805	DNM2	16227997	160150	Myopathy, centronuclear	4954227
ENSG00000204217	BMPR2	12358323	178600	Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated	14053563
ENSG00000092054	MYH7	17336526	181430	Scapuloperoneal syndrome, myopathic type	5696602
ENSG00000101384	JAG1	11152664	187500	Tetralogy of Fallot	13943847
ENSG00000162711	NLRP3	11687797	191900	Muckle-Wells syndrome	14476827
ENSG00000121966	CXCR4	12692554	193670	WHIM syndrome	14122792
ENSG00000091513	TF	11110675	209300	Atransferrinemia 	13906010
ENSG00000100504	PYGL	9529348	232700	Glycogen storage disease VI	13646331
ENSG00000126524	SBDS	12496757	260400	Shwachman-Diamond syndrome	14221166
ENSG00000168509	HFE2	14647275	602390	Hemochromatosis, type 2A	14314226
ENSG00000048342	CC2D2A	18950740	612285	Joubert syndrome 9 	5816874
ENSG00000048342	CC2D2A	18387594	612285	Joubert syndrome 9 	5816874
ENSG00000169379	ARL13B	18674751	612291	Joubert syndrome 8	5816874
ENSG00000164344	KLKB1	15461630	612423	Fletcher factor (prekallikrein) deficiency	5845778
ENSG00000100985	MMP9	19615667	613073	Metaphyseal anadysplasia 2 	4252978
ENSG00000120149	MSX2	14571277	168550	Parietal foramina with cleidocranial dysplasia	Eckstein, H. B., Hoare, R. D. Congenital parietal 'foramina' associated with faulty ossification of the clavicles. Brit. J. Radiol. 36: 220-221, 1963.
ENSG00000196712	NF1	12707950	601321	Neurofibromatosis-Noonan syndrome	J. A. Noonan, D.A. Ehmke: Associated noncardiac malformations in children with congenital heart disease. [Abstract] Journal of Pediatrics, St. Louis, 1963, 63: 468-470. 
ENSG00000204370	SDHD	12007193	114900	Carcinoid tumors, intestinal	Eschbach, J. W., Rinaldo, J. A., Jr. Metastatic carcinoid: a familial occurrence. Ann. Intern. Med. 57: 647-650, 1962
ENSG00000154122	ANKH	12297987	118600	Chondrocalcinosis 2	McCarty, D. J., Jr., Kohn, N. N., Faires, J. S. The significance of calcium phosphate crystals in the synovial fluid of arthritic patients. The 'pseudogout syndrome.' I. Clinical aspects. Ann. Intern. Med. 56: 711-737, 1962.
ENSG00000147133	TAF1	11714101	314250	Dystonia-Parkinsonism, X-linked	Johnston, A. W., McKusick, V. A. Sex-linked recessive inheritance in spastic paraplegia and parkinsonism. In: Gedda, L. (ed.): Proceedings of the Second International Congress on Human Genetics, Rome, Sept. 6-12, 1961. Vol. 3. Rome: Instituto G. Mendel (pub.) 1963. Pp. 1652-1654.
ENSG00000241635	UGT1A1	11061796	237900	Hyperbilirubinemia, familial transient neonatal	Lucey, J. F., Arias, I. M., McKay, R. J., Jr. Transient familial neonatal hyperbilirubinemia. Am. J. Dis. Child. 100: 787-789, 1960.
ENSG00000008311	AASS	10775527	238700	Hyperlysinemia	Woody, N. C., Hutzler, J., Dancis, J. Further studies of hyperlysinemia. Am. J. Dis. Child. 112: 577-580, 1960.
ENSG00000132842	AP3B1	10024875	608233	Hermansky-Pudlak syndrome 2 	F. Hermansky, P. Pudlak: Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood, New York, 1959, 14: 162-169. 
ENSG00000111012	CYP27B1	9486994	264700	Vitamin D-dependent rickets, type I	Fraser, D., Salter, R. B. The diagnosis and management of the various types of rickets. Pediat. Clin. N. Am. 5: 417-441, 1958.
ENSG00000008710	PKD1	8004675	173900	Polycystic kidney disease, adult type I	Poinso, R., Monges, H., Payan, H. La maladie kystique du foie. Paris: Expansion Scientifique Francaise (pub.) 1954.
ENSG00000083444	PLOD1	8449506	225400	Ehlers-Danlos syndrome, type VI, 225400 (3)	Durham, D. G. Cutis hyperelastica (Ehlers-Danlos syndrome) with blue scleras, microcornea, and glaucoma. Arch. Ophtal. (Paris) 49: 220, 1953.
ENSG00000128617	OPN1SW	1531728	190900	Colorblindness, tritan	Wright, W. D. The characteristics of tritanopia. J. Ophthal. Soc. Am. 42: 509-521, 1952.
ENSG00000164751	PEX2	1546315	614866	Peroxisome biogenesis disorder 5A (Zellweger)	H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192.
ENSG00000171204	TMEM126B	27374773	252010	Mitochondrial complex I deficiency	947896
ENSG00000183421	RIPK4	22197488	263650	Popliteal pterygium syndrome, Bartsocas-Papas type	4339984
ENSG00000101152	DNAJC5	21820099	162350	Ceroid lipofuscinosis, neuronal, 4, Parry type	5132971
ENSG00000160796	NBEAL2	21765413	139090	Gray platelet syndrome	5129551
ENSG00000160796	NBEAL2	21765412	139090	Gray platelet syndrome	5129551
ENSG00000160796	NBEAL2	21765411	139090	Gray platelet syndrome	5129551
ENSG00000137601	NEK1	21211617	263520	Short-rib thoracic dysplasia 6 with or without polydactyly 	4331366
ENSG00000060642	PIGV	20802478	239300	Hyperphosphatasia with mental retardation syndrome 1	5465362
ENSG00000143815	LBR	20522425	613471	Reynolds syndrome	5448799
ENSG00000255974	CYP2A6	14656880	122700	Coumarin resistance	14187664
ENSG00000158104	HPD	11073718	140350	Hawkinsinuria	16748849
ENSG00000170881	RNF139	7690964	144700	Renal cell carcinoma	13070329
ENSG00000060718	COL11A1	9529347	154780	Marshall syndrome	13520885
ENSG00000007314	SCN4A	1659948	170500	Hyperkalemic periodic paralysis type 2	14832379
ENSG00000134982	APC	1651563	175100	Adenomatous polyposis coli	14902760
ENSG00000134982	APC	1651563	175100	Brain tumor-polyposis syndrome 2	14902760
ENSG00000134982	APC	1651563	175100	Gardner syndrome	14902760
ENSG00000134982	APC	1651174	175100	Adenomatous polyposis coli	14902760
ENSG00000134982	APC	1651174	175100	Brain tumor-polyposis syndrome 2	14902760
ENSG00000134982	APC	1651174	175100	Gardner syndrome	14902760
ENSG00000151623	NR3C2	9662404	177735	Pseudohypoaldosteronism type I, autosomal dominant	13545877
ENSG00000004939	SLC4A1	16227998	185020	Cryohydrocytosis 1850	14296416
ENSG00000148384	INPP5E	19668216	213300	Joubert syndrome 1 	5816874
ENSG00000053918	KCNQ1	9020846	220400	Jervell and Lange-Nielsen syndrome	13435203
ENSG00000114480	GBE1	8613547	232500	Glycogen storage disease IV	13279125
ENSG00000172062	SMN1	8782046	253400	Spinal muscular atrophy-3	13312732
ENSG00000158104	HPD	10942115	276710	Tyrosinemia, type III	16748849
ENSG00000046651	OFD1	19800048	300804	Joubert syndrome 10	5816874
ENSG00000156531	PHF6	12415272	301900	Borjeson-Forssman-Lehmann syndrome	13871358
ENSG00000107290	SETX	15106121	602433	Amyotrophic lateral sclerosis 4, juvenile	14236005
ENSG00000152457	DCLRE1C	15731174	603554	Omenn syndrome	14328107
ENSG00000076351	SLC46A1	17129779	229050	Folate malabsorption, hereditary	Luhby, A. L., Cooperman, J. M., Pesci-Bourel, A. A new inborn error of metabolism: folic acid responsive megaloblastic anemia, ataxia, mental retardation, and convulsions. (Abstract) J. Pediat. 67: 1052 only, 1965.
ENSG00000131697	NPHP4	12205563	606996	Senior-Loken syndrome 4 	B. Senior, A. I. Friedmann, J. L. Brando: Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. American Journal of Ophthalmology, Chicago, 1961, 52: 625-633.  
ENSG00000139219	COL2A1	7981752	156550	Kniest dysplasia	Kniest, W. Zur Abgrenzung der Dysostosis enchondralis von der Chondrodystrophie. Z. Kinderheilk. 43: 633-640, 1952.
ENSG00000241635	UGT1A1	8276413	606785	Crigler-Najjar syndrome, type II	J. F.Crigler, V. A. Najjar: Congenital familial nonhemolytic jaundice with kernicterus. Pediatrics, Evanston, Illinois, 1952, 10: 169-180. 
ENSG00000104783	KCNN4	26148990	616689	Dehydrated hereditary stomatocytosis 2	4851153
ENSG00000154277	UCHL1	23359680	615491	Spastic paraplegia 79, autosomal recessive	4514348
ENSG00000151148	UBE3B	23200864	244450	Kaufman oculocerebrofacial syndrome	5006210
ENSG00000105409	ATP1A3	22842232	614820	Alternating hemiplegia of childhood 2	5089756
ENSG00000114251	WNT5A	19918918	180700	Robinow syndrome, autosomal dominant 1	5771504
ENSG00000110711	AIP	16728643	102200	Pituitary adenoma, growth hormone-secreting	5320367
ENSG00000135697	BCO1	17951468	115300	Hypercarotenemia and vitamin A deficiency, autosomal dominant	5955354
ENSG00000117118	SDHB	11404820	115310	Paragangliomas 4	13811705
ENSG00000118271	TTR	16433699	115430	Carpal tunnel syndrome, familial	14341079
ENSG00000115904	SOS1	11868160	135300	Fibromatosis, gingival, 1	13787614
ENSG00000143631	FLG	16444271	146700	Ichthyosis vulgaris	11850936
ENSG00000168610	STAT3	17676033	147060	Hyper-IgE recurrent infection syndrome	4161105
ENSG00000169946	ZFPM2	14517948	187500	Tetralogy of Fallot	13943847
ENSG00000104447	TRPS1	10615131	190350	Trichorhinophalangeal syndrome, type I	13621640
ENSG00000143178	TBX19	11290323	201400	Adrenocorticotropic hormone deficiency	14428277
ENSG00000197561	ELANE	11001877	202700	Neutropenia, severe congenital 1, autosomal dominant	13626582
ENSG00000110911	SLC11A2	15459009	206100	Anemia, hypochromic microcytic, with iron overload 1	14135503
ENSG00000241635	UGT1A1	8276413	218800	Crigler-Najjar syndrome, type I	12983120
ENSG00000141627	DYM	12554689	223800	Dyggve-Melchior-Clausen disease	21032395
ENSG00000100033	PRODH	12217952	239500	Hyperprolinemia, type I	13910063
ENSG00000170927	PKHD1	11919560	263200	Polycystic kidney and hepatic disease	13764315
ENSG00000072210	ALDH3A2	9027499	270200	Sjogren-Larsson syndrome 	13354244
ENSG00000160323	ADAMTS13	11586351	274150	Thrombotic thrombocytopenic purpura, familial	14443744
ENSG00000122126	OCRL	15627218	300555	Dent disease 2	14169453
ENSG00000010671	BTK	8380905	300755	Agammaglobulinemia, X-linked 1	14929630
ENSG00000102103	PQBP1	14634649	309500	Renpenning syndrome 	13981686
ENSG00000196924	FLNA	12612583	311300	Otopalatodigital syndrome, type I	13919903
ENSG00000172037	LAMB2	15367484	609049	Pierson syndrome 	14136829
ENSG00000111199	TRPV4	19232556	184252	Spondylometaphyseal dysplasia, Kozlowski type	Kozlowski, K., Maroteaux, P., Spranger, J. W. La dysostose spondylo-metaphysaire. Presse Med. 75: 2769-2774, 1967.
ENSG00000074582	BCS1L	17314340	262000	Bjornstad syndrome 	Bjornstad, R. Pili torti and sensory-neural loss of hearing. (Abstract) Proc. 7th Meeting Northern Derm. Soc., Copenhagen, May , 1965.
ENSG00000124164	VAPB	15372378	182980	Spinal muscular atrophy, late-onset, Finkel type	Finkel, N. A forma pseudomiopatica tardia da atrofia muscular progressiva heredo-familial. Arquiv. Neuropsiquiatr. 20: 307-322, 1962.
ENSG00000181449	SOX2	12612584	206900	Microphthalmia, syndromic 3	Francois, J. Heredity in Ophthalmology. St. Louis: C. V. Mosby (pub.) 1961. P. 173.
ENSG00000181449	SOX2	12612584	206900	Optic nerve hypoplasia and abnormalities of the central nervous system	Francois, J. Heredity in Ophthalmology. St. Louis: C. V. Mosby (pub.) 1961. P. 173.
ENSG00000152700	SAR1B	12692552	246700	Chylomicron retention disease	Anderson, C. M., Townley, R. R. W., Freeman, M., Johansen, P. Unusual causes of steatorrhoea in infancy and childhood. Med. J. Aust. 2: 617-622, 1961.
ENSG00000160789	LMNA	12075506	248370	Mandibuloacral dysplasia	Cavallazzi, C., Cremoncini, R., Quadri, A. Su di un caso di disostosi cleido-cranica. [A case of cleidocranial dysostosis]. Riv. Clin. Pediat. 65: 313-326, 1960
ENSG00000087266	SH3BP2	11381256	118400	Cherubism	Thompson, N. Cherubism: familial fibrous dysplasia of the jaws. Brit. J. Plast. Surg. 12: 89-103, 1959.
ENSG00000163755	HPS3	11455388	614072	Hermansky-Pudlak syndrome 3	F. Hermansky, P. Pudlak: Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood, New York, 1959, 14: 162-169. 
ENSG00000118972	FGF23	11062477	193100	Hypophosphatemic rickets, autosomal dominant	13565132
ENSG00000133710	SPINK5	10835624	256500	Netherton syndrome	Netherton, E. W. A unique case of trichorrhexis nodosa: 'bamboo hairs'. Arch. Derm. 78: 483-487, 1958.
ENSG00000197561	ELANE	10581030	162800	Neutropenia, cyclic	Page, A. R., Good, R. A. Studies on cyclic neutropenia. A clinical and experimental investigation. Am. J. Dis. Child. 94: 623-661, 1957.
ENSG00000161270	NPHS1	9660941	256300	Nephrotic syndrome, type 1	Hallman, N., Hjelt, L., Ahvenainen, E. K. Nephrotic syndrome in newborn and young infants. Ann. Paediat. Fenn. 2: 227-241, 1956.
ENSG00000160224	AIRE	9398839	240300	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia	Craig, J. M., Schiff, L. H., Boone, J. E. Chronic moniliasis associated with Addison's disease. Am. J. Dis. Child. 89: 669-684, 1955.
ENSG00000104044	OCA2	7920637	203200	Albinism, brown oculocutaneous	Magnussen, K. Beitrag zur Genetik und Histologie eines isolierten Augenalbinismus beim Kaninchen. Z. Morph. Anthrop. 44: 127-135, 1952.
ENSG00000104044	OCA2	7920637	203200	Albinism, oculocutaneous, type II	Magnussen, K. Beitrag zur Genetik und Histologie eines isolierten Augenalbinismus beim Kaninchen. Z. Morph. Anthrop. 44: 127-135, 1952.
ENSG00000174951	FUT1	7912436	616754	Bombay phenotype	Bhende, Y. M., Deshpande, C. K., Bhatia, H. M., Sanger, R., Race, R. R., Morgan, W. T. J., Watkins, W. M. A 'new' blood group character related to the ABO system. Lancet I: 903-904, 1952.
ENSG00000104826	LHB	1727547	228300	Hypogonadotropic hypogonadism 23 with or without anosmia	Pasqualini, R. Q., Bur, G. E. Sindrome hipoandrogenico con gametogenesis conservada: clasificacion de la insuficiencia testicular. Rev. Asoc. Med. Argent. 64: 6-10, 1950.
ENSG00000121691	CAT	2308162	614097	Acatalasemia	Takahara, S., Miyamoto, H. Three cases of progressive oral gangrene due to lack of catalase in the blood. Nippon Jibi-Inkoka Gakkai Kaiho 51: 163 only, 1948.
ENSG00000233608	TWIST2	26119818	200110	Ablepharon-macrostomia syndrome	4774831
ENSG00000143324	XPR1	25938945	616413	Basal ganglia calcification, idiopathic, 6	4795427
ENSG00000115267	IFIH1	25620204	182250	Singleton-Merten syndrome 1	4272099
ENSG00000135241	PNPLA8	25512002	251950	Mitochondrial myopathy with lactic acidosis	4725145
ENSG00000118402	ELOVL4	24566826	133190	Spinocerebellar ataxia 34	5048218
ENSG00000068724	TTC7A	23423984	243150	Gastrointestinal defects and immunodeficiency syndrome	5091250
ENSG00000118058	KMT2A	22795537	605130	Wiedemann-Steiner syndrome	5519603
ENSG00000187535	IFT140	22503633	266920	Short-rib thoracic dysplasia 9 with or without polydactyly	4991086
ENSG00000049618	ARID1B	22405089	135900	Coffin-Siris syndrome 1	5442442
ENSG00000144535	DIS3L2	22306653	267000	Perlman syndrome 	4315293
ENSG00000095015	MAP3K1	21129722	613762	46XY sex reversal 6 	4295620
ENSG00000162736	NCSTN	20929727	142690	Acne inversa, familial, 1	4864515
ENSG00000151611	MMAA	20556797	251100	Methylmalonic aciduria, vitamin B12-responsive	5648598
ENSG00000166147	FBN1	20375004	184900	Stiff skin syndrome	5718921
ENSG00000120708	TGFBI	16652336	121820	Corneal dystrophy, epithelial basement membrane	14269893
ENSG00000133895	MEN1	9103196	131100	Multiple endocrine neoplasia 1	13259432
ENSG00000140522	RLBP1	14718298	136880	Retinitis punctata albescens	14459667
ENSG00000067182	TNFRSF1A	10199409	142680	Periodic fever, familial	13458215
ENSG00000134371	CDC73	12434154	145000	Hyperparathyroidism, familial primary	13691344
ENSG00000111262	KCNA1	7842011	160120	Episodic ataxia/myokymia syndrome	14943316
ENSG00000169344	UMOD	12471200	162000	Hyperuricemic nephropathy, familial juvenile 1	13818629
ENSG00000038945	MSR1	12244320	176807	Prostate cancer, hereditary	13845929
ENSG00000101282	RSPO4	17041604	206800	Anonychia congenita 	14126263
ENSG00000068976	PYGM	8316268	232600	McArdle disease	24540673
ENSG00000163541	SUCLG1	17668387	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)	14288452
ENSG00000144455	SUMF1	12757706	272200	Multiple sulfatase deficiency 	14476546
ENSG00000144455	SUMF1	12757705	272200	Multiple sulfatase deficiency 	14476546
ENSG00000115486	GGCX	9845520	277450	Vitamin K-dependent clotting factors, combined deficiency of, 1	13313579
ENSG00000198910	L1CAM	16650080	304100	Corpus callosum, partial agenesis of	14158525
ENSG00000196924	FLNA	17190868	314400	Cardiac valvular dysplasia, X-linked	5845248
ENSG00000104313	EYA1	9359046	602588	Branchiootic syndrome 1	13269867
ENSG00000132031	MATN3	11479597	607078	Epiphyseal dysplasia, multiple, 5	13849708
ENSG00000163600	ICOS	12577056	607594	Immunodeficiency, common variable, 1	13786420
ENSG00000100393	EP300	15706485	613684	Rubinstein-Taybi syndrome 2 	13983033
ENSG00000171302	CANT1	19853239	251450	Desbuquois dysplasia 1	Desbuquois, G., Grenier, B., Michel, J., Rossignol, C. Nanisme chondrodystrophique avec ossification anarchique et polymalformations chez deux soeurs. Arch. Franc. Pediat. 23: 573-587, 1966.
ENSG00000165102	HGSNAT	16960811	252930	Mucopolysaccharidosis type IIIC (Sanfilippo C)	Sanfilippo, S. J., Podosin, R., Langer, L. O., Jr., Good, R. A. Mental retardation associated with acid mucopolysacchariduria (heparitin sulfate type). J. Pediat. 63: 837-838, 1963.
ENSG00000133703	KRAS	16474405	609942	Noonan syndrome 3 	J. A. Noonan, D.A. Ehmke: Associated noncardiac malformations in children with congenital heart disease. [Abstract] Journal of Pediatrics, St. Louis, 1963, 63: 468-470. 
ENSG00000183337	BCOR	15004558	300166	Microphthalmia, syndromic 2	Francois, J. Heredity in Ophthalmology. St. Louis: C. V. Mosby (pub.) 1961. P. 173.
ENSG00000119614	VSX2	15257456	610093	Microphthalmia, isolated 2	Francois, J. Heredity in Ophthalmology. St. Louis: C. V. Mosby (pub.) 1961. P. 173.
ENSG00000134438	RAX	14662654	611038	Microphthalmia, isolated 3	Francois, J. Heredity in Ophthalmology. St. Louis: C. V. Mosby (pub.) 1961. P. 173.
ENSG00000175054	ATR	12640452	210600	Seckel syndrome 1 	Seckel, H. P. G. Bird-headed Dwarfs: Studies in Developmental Anthropology Including Human Proportions. Springfield, Ill.: Charles C Thomas (pub.) 1960.
ENSG00000116127	ALMS1	11941369	203800	Alstrom syndrome	Alstrom, C. H., Hallgren, B., Nilsson, L. B., Asander, H. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Biedl syndrome. A clinical endocrinological and genetic examination based on a large pedigree. Acta Psychiat. Neurol. Scand. 34 (suppl. 129): 1-35, 1959.
ENSG00000100099	HPS4	11836498	614073	Hermansky-Pudlak syndrome 4 	F. Hermansky, P. Pudlak: Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood, New York, 1959, 14: 162-169. 
ENSG00000164690	SHH	11471164	147250	Single median maxillary central incisor	Scott, D. C. Absence of upper central incisor. Brit. Dent. J. 104: 247 only, 1958.
ENSG00000106617	PRKAG2	11407343	194200	Wolff-Parkinson-White syndrome	Warner, A. D., McKusick, V. A. Wolff-Parkinson-White syndrome: a genetic study. (Abstract) Clin. Res. 6: 18 only, 1958.
ENSG00000158125	XDH	9153281	278300	Xanthinuria, type I	Dent, C. E., Philpot, G. R. Xanthinuria: an inborn error of metabolism. La ncet I: 182-185, 1954.
ENSG00000169607	CKAP2L	25439729	272440	Filippi syndrome 	4323269
ENSG00000029993	HMGB3	24993872	300915	Microphthalmia, syndromic 13	4998085
ENSG00000092621	PHGDH	24836451	256520	Neu-Laxova syndrome 1	5547878
ENSG00000137693	YAP1	24462371	120433	Coloboma, ocular	4997531
ENSG00000137693	YAP1	24462371	120433	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation	4997531
ENSG00000078401	EDN1	23315542	612798	Question mark ears, isolated	4919280
ENSG00000157227	MMP14	22922033	277950	Winchester syndrome	4238825
ENSG00000197603	C5orf42	22425360	614615	Joubert syndrome 17	5816874
ENSG00000105993	DNAJB6	22334415	603511	Muscular dystrophy, limb-girdle, type 1E	5780363
ENSG00000166250	CLMP	22155368	615237	Congenital short bowel syndrome 	5765427
ENSG00000177119	ANO6	21107324	262890	Scott syndrome 	6029953
ENSG00000187323	DCC	20431009	157600	Mirror movements 1	6026070
ENSG00000258947	TUBB3	20074521	600638	Fibrosis of extraocular muscles, congenital, 3A	6050846
ENSG00000137869	CYP19A1	12736278	139300	Aromatase excess syndrome	13762869
ENSG00000138622	HCN4	12750403	163800	Sick sinus syndrome 2 	13685714
ENSG00000125741	OPA3	15342707	165300	Optic atrophy 3 with cataract	13703570
ENSG00000138823	MTTP	8111381	200100	Abetalipoproteinemia 	15411425
ENSG00000115919	KYNU	17334708	236800	Hydroxykynureninuria	14169454
ENSG00000095002	MSH2	11809679	276300	Mismatch repair cancer syndrome 	13839882
ENSG00000129991	TNNI3	15070570	611880	Cardiomyopathy, dilated, 2A	13687796
ENSG00000128159	TUBGCP6	22279524	251270	Microcephaly and chorioretinopathy, autosomal recessive, 1	Koch, G. Genealogisch-demographische Untersuchungen ueber Mikrocephalie in Westfalen. Forschungsberichte des Landes Nordrhein-Westfalen, No. 1963 (pub.) 1968. P. 99 only.
ENSG00000049089	COL9A2	21671392	614284	Stickler syndrome, type V	G. B. Stickler, D. G. Pugh: Hereditary progressive arthroophthalmopathy: II Additional observations of vertebral abnormalities, a hearing defect, and a report of a similar case. Mayo Clinic Proceedings, Rochester, Minnesota, 1967, 42: 495-500. 
ENSG00000264229	RNU4ATAC	21474760	210710	Microcephalic osteodysplastic primordial dwarfism, type I	Taybi, H., Linder, D. Congenital familial dwarfism with cephaloskeletal dysplasia. Radiology 89: 275-281, 1967.
ENSG00000228716	DHFR	21310277	613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	Walters, T. R. Congenital megaloblastic anemia responsive to N(5)-formyltetrahydrofolic acid administration. J. Pediat. 70: 686-687, 1967.
ENSG00000228716	DHFR	21310276	613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	Walters, T. R. Congenital megaloblastic anemia responsive to N(5)-formyltetrahydrofolic acid administration. J. Pediat. 70: 686-687, 1967.
ENSG00000184058	TBX1	19948535	187500	Tetralogy of Fallot	Lynch, H. T., Tips, R. I., Krush, A. J. Tetralogy of Fallot in two siblings. Am. J. Dis. Child. 11: 304-307, 1966.
ENSG00000187045	TMPRSS6	18408718	206200	Iron-refractory iron deficiency anemia	Nash, D. J., Kent, E., Dickie, M. M., Russell, E. S. The inheritance of 'mick,' a new anemia in the house mouse. Am. Zoologist 14: 404-405, 1964.
ENSG00000115904	SOS1	17143285	610733	Noonan syndrome 4	J. A. Noonan, D.A. Ehmke: Associated noncardiac malformations in children with congenital heart disease. [Abstract] Journal of Pediatrics, St. Louis, 1963, 63: 468-470. 
ENSG00000115904	SOS1	17143282	610733	Noonan syndrome 4	J. A. Noonan, D.A. Ehmke: Associated noncardiac malformations in children with congenital heart disease. [Abstract] Journal of Pediatrics, St. Louis, 1963, 63: 468-470. 
ENSG00000132155	RAF1	17603483	611553	Noonan syndrome 5 	J. A. Noonan, D.A. Ehmke: Associated noncardiac malformations in children with congenital heart disease. [Abstract] Journal of Pediatrics, St. Louis, 1963, 63: 468-470. 
ENSG00000115170	ACVR1	16642017	135100	Fibrodysplasia ossificans progressiva	Viparelli, V. La miosite ossificante progressiva. Ann. Neuropsichiat. Psicoanal. 9: 297-324, 1962.
ENSG00000198569	SLC34A3	16358214	241530	Hypophosphatemic rickets with hypercalciuria	Royer, P., Mathieu, H., Gerbeaux, S., Frederich, A., Rodriguez-Soriano, J., Dartois, A. M., Cuisinier, P. L'hypercalciurie idiopathique avec nanisme et alteinte renale chez l'enfant. Ann. Pediat. 38: 147-163, 1962
ENSG00000173226	IQCB1	15723066	609254	Senior-Loken syndrome 5 	B. Senior, A. I. Friedmann, J. L. Brando: Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. American Journal of Ophthalmology, Chicago, 1961, 52: 625-633.  
ENSG00000165588	OTX2	15846561	610125	Microphthalmia, syndromic 5	Francois, J. Heredity in Ophthalmology. St. Louis: C. V. Mosby (pub.) 1961. P. 173
ENSG00000165588	OTX2	15846561	610125	Retinal dystrophy, early-onset, with or without pituitary dysfunction	Francois, J. Heredity in Ophthalmology. St. Louis: C. V. Mosby (pub.) 1961. P. 173
ENSG00000110756	HPS5	12548288	614074	Hermansky-Pudlak syndrome 5	F. Hermansky, P. Pudlak: Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood, New York, 1959, 14: 162-169. 
ENSG00000166189	HPS6	12548288	614075	Hermansky-Pudlak syndrome 6	F. Hermansky, P. Pudlak: Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood, New York, 1959, 14: 162-169. 
ENSG00000047579	DTNBP1	12923531	614076	Hermansky-Pudlak syndrome 7	F. Hermansky, P. Pudlak: Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood, New York, 1959, 14: 162-169. 
ENSG00000074695	LMAN1	9546392	227300	Combined factor V and VIII deficiency	Oeri, J., Matter, M., Isenschmid, H., Hauser, F., Koller, F. Angeborener Mangel an Faktor V (Parahaemophilie) verbunden mit echter Haemophilie A bei zwei Brudern. Mod. Probl. Paediatr. 1: 575-588, 1954.
ENSG00000124587	PEX6	8670792	614862	Peroxisome biogenesis disorder 4A (Zellweger)	H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192.
ENSG00000103876	FAH	8028615	276700	Tyrosinemia, type I	Himsworth, H. P. Lectures on the Liver and its Diseases. (2nd ed.) Oxford: Blackwell (pub.) 1950.
ENSG00000127507	ADGRE2	26841242	125630	Vibratory urticaria	5050327
ENSG00000130449	ZSWIM6	25105228	603671	Acromelic frontonasal dysostosis 	5444583
ENSG00000162065	TBC1D24	24291220	220500	DOOR syndrome	5458564
ENSG00000108946	PRKAR1A	21651393	101800	Acrodysostosis 1, with or without hormone resistance	6020652
ENSG00000167580	AQP2	8140421	125800	Diabetes insipidus, nephrogenic	14785081
ENSG00000091483	FH	11865300	150800	Leiomyomatosis and renal cell cancer	13520698
ENSG00000128422	KRT17	7539673	167210	Pachyonychia congenita 2 	14885876
ENSG00000109861	CTSC	10662808	170650	Periodontitis 1, juvenile	13322427
ENSG00000139687	RB1	7795591	180200	Retinoblastoma	14868057
ENSG00000168453	HR	9758627	209500	Atrichia with papular lesions 	13150805
ENSG00000023839	ABCC2	9425227	237500	Dubin-Johnson syndrome	13193360
ENSG00000136003	ISCU	18304497	255125	Myopathy with lactic acidosis, hereditary	14213465
ENSG00000073578	SDHA	7550341	256000	Leigh syndrome	14874135
ENSG00000198947	DMD	8361506	302045	Cardiomyopathy, dilated, 3B	18113470
ENSG00000198707	CEP290	16682973	610189	Senior-Loken syndrome 6 	B. Senior, A. I. Friedmann, J. L. Brando: Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. American Journal of Ophthalmology, Chicago, 1961, 52: 625-633.  
ENSG00000182636	NDN	11230184	176270	Prader-Willi syndrome	Prader, A., Labhart, A., Willi, H. Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach Myatonieartigem Zustand im Neugeborenenalter. Schweiz. Med. Wschr. 86: 1260-1261, 1956.
ENSG00000180210	F2	10651742	613679	Dysprothrombinemia 	Quick, A. J., Pisciotta, A. V., Hussey, C. V. Congenital hypoprothrombinemic states. Arch. Intern. Med. 95: 2-14, 1955.
ENSG00000125965	GDF5	9288098	200700	Chondrodysplasia, Grebe type	Grebe, H. Die Achondrogenesis: ein einfach rezessives Erbmerkmal. Folia Hered. Path. 2: 23-28, 1952
ENSG00000122126	OCRL	9199559	309000	Lowe syndrome	Lowe, C. U., Terrey, M., MacLachlan, E. A. Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation. Am. J. Dis. Child. 83: 164-184, 1952.
ENSG00000108733	PEX12	9090384	614859	Peroxisome biogenesis disorder 3A (Zellweger)	H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192.
ENSG00000092529	CAPN3	7720071	253600	Muscular dystrophy, limb-girdle, type 2A	Pfaendler, U. Eine einfach rezessive Form der Dystrophia musculorum progressiva mit einer Sippenstammtafel aus dem Emmental (Schweiz). Dtsch. Med. Wschr. 75: 1221-1225, 1950
ENSG00000171105	INSR	8105179	246200	Leprechaunism	Donohue, W. L. Dysendocrinism. J. Pediat. 32: 739-748, 1948.
ENSG00000104936	DMPK	1346923	160900	Myotonic dystrophy 1	Bell, J. Dystrophia myotonica and allied disease. In: Penrose, L. S.: Treasury of Human Inheritance. (4th ed.) Cambridge: Cambridge Univ. Press (pub.) 1947. Pp. 343-410.
ENSG00000101596	SMCHD1	28067909	603457	Bosma arhinia microphthalmia syndrome	5032329
ENSG00000160688	FLAD1	25058219	255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	4179573
ENSG00000032444	PNPLA6	24355708	215470	Boucher-Neuhauser syndrome 	5806782
ENSG00000156471	PTDSS1	24241535	151050	Lenz-Majewski hyperostotic dwarfism	5249155
ENSG00000168028	RPSA	23579497	271400	Asplenia, isolated congenital	5685358
ENSG00000110921	MVK	22983302	175900	Porokeratosis 3, multiple types	4864722
ENSG00000198380	GFPT1	21310273	610542	Myasthenia, congenital, 12, with tubular aggregates	5910898
ENSG00000145623	OSMR	18179886	105250	Amyloidosis, primary localized cutaneous, 1	13976058
ENSG00000152591	DSPP	9541230	125500	Dentinogenesis imperfecta, Shields type III	13120119
ENSG00000100234	TIMP3	7894485	136900	Sorsby fundus dystrophy	18111349
ENSG00000136574	GATA4	18055909	187500	Tetralogy of Fallot	13943847
ENSG00000143669	LYST	9215680	214500	Chediak-Higashi syndrome 	13004553
ENSG00000143669	LYST	9215679	214500	Chediak-Higashi syndrome 	13004553
ENSG00000131482	G6PC	8211187	232200	Glycogen storage disease Ia	16748235
ENSG00000070915	SLC12A3	8528245	263800	Gitelman syndrome 	14877834
ENSG00000102312	PORCN	17546030	305600	Focal dermal hypoplasia	13948891
ENSG00000104313	EYA1	10655545	602588	Anterior segment anomalies with or without cataract	13269867
ENSG00000141627	DYM	12491225	607326	Smith-McCort dysplasia	13489517
ENSG00000100014	SPECC1L	25412741	145410	Opitz GBBB syndrome, type II	Opitz, J. M., Frias, J. L., Gutenberger, J. E., Pellett, J. R. The G syndrome of multiple congenital anomalies. Birth Defects Orig. Art. Ser. V(2): 95-101, 1969.
ENSG00000125084	WNT1	23499309	615220	Osteogenesis imperfecta, type XV	Lane, P. W. Swaying. Mouse News Lett. 36: 40 only, 1967.
ENSG00000237412	PRSS56	21397065	613517	Microphthalmia, isolated 6	Franceschetti, A., Gernet, H. Diagnostic ultrasonique d'une microphtalmie sans microcornee, avec macrophakie, haute hypermetropie associee a une degenerescence tapeto-retinienne, une disposition glaucomateuse et des anomalies dentaires (nouveau syndrome familial). Arch. Ophtal. Rev. Gen. Ophtal. (Paris) 25: 105-116, 1965.
ENSG00000108061	SHOC2	19684605	607721	Noonan-like syndrome with loose anagen hair	J. A. Noonan, D.A. Ehmke: Associated noncardiac malformations in children with congenital heart disease. [Abstract] Journal of Pediatrics, St. Louis, 1963, 63: 468-470. 
ENSG00000157764	BRAF	19206169	613706	Noonan syndrome 7	J. A. Noonan, D.A. Ehmke: Associated noncardiac malformations in children with congenital heart disease. [Abstract] Journal of Pediatrics, St. Louis, 1963, 63: 468-470. 
ENSG00000107859	PITX3	9620774	107250	Anterior segment dysgenesis 1, multiple subtypes	Friedmann, M. W., Wright, E. S. Hereditary microcornea and cataract in 5 generations. Am. J. Ophthal. 35: 1017-1021, 1952.
ENSG00000157911	PEX10	9683594	614870	Peroxisome biogenesis disorder 6A (Zellweger)	H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192.
ENSG00000157911	PEX10	9683594	614871	Peroxisome biogenesis disorder 6B 	H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192.
ENSG00000121680	PEX16	9837814	614876	Peroxisome biogenesis disorder 8A (Zellweger)	H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192.
ENSG00000143387	CTSK	8703060	265800	Pycnodysostosis 	Seigman, E. L., Kilby, W. C. Osteopetrosis: report of a case and review of recent literature. Am. J. Roentgen. 63: 865-874, 1950.
ENSG00000123500	COL10A1	8220429	156500	Metaphyseal chondrodysplasia, Schmid type	Schmid, F. Beitrag zur Dysostosis enchondralis metaphysarea. Mschr. Kinderheilk. 97: 393-397, 1949.
ENSG00000169083	AR	1598912	312300	Androgen insensitivity, partial, with or without breast cancer	Reifenstein, E. C., Jr. Hereditary familial hypogonadism. (Abstract) Proc. Am. Fed. Clin. Res. 3: 86 only, 1946.
ENSG00000087460	GNAS	2829196	103580	Pseudohypoparathyroidism Ia	Albright, F., Burnett, C. H., Smith, P. H., Parson, W. Pseudo-hypoparathyroidism--an example of 'Seabright-Bantam syndrome': report of three cases. Endocrinology 30: 922-932, 1942.
ENSG00000077782	FGFR1	26942290	613001	Encephalocraniocutaneous lipomatosis	4902772
ENSG00000044115	CTNNA1	26691986	608970	Macular dystrophy, patterned, 2	5442145
ENSG00000196230	TUBB	26637975	156610	Symmetric circumferential skin creases, congenital, 1	4980758
ENSG00000177082	WDR73	25466283	251300	Galloway-Mowat syndrome	5713646
ENSG00000142949	PTPRF	24781087	616001	Breasts and/or nipples, aplasia or hypoplasia of, 2	5635066
ENSG00000123453	SARDH	22825317	268900	Sarcosinemia	5936868
ENSG00000138160	KIF11	22284827	152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	5936364
ENSG00000141646	SMAD4	22158539	139210	Myhre syndrome	14272366
ENSG00000130508	PXDN	21907015	269400	Anterior segment dysgenesis 7, with sclerocornea	4954614
ENSG00000182872	RBM10	20451169	311900	TARP syndrome	14293686
ENSG00000254647	INS	18192540	125852	Diabetes mellitus, insulin-dependent, 2	13937884
ENSG00000036828	CASR	8255296	145980	Hypocalciuric hypercalcemia, type I	20290361
ENSG00000081923	ATP8B1	15888793	147480	Cholestasis, intrahepatic, of pregnancy, 1	13661186
ENSG00000167995	BEST1	15452077	193220	Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma	13534955
ENSG00000167995	BEST1	15452077	193220	Vitreoretinochoroidopathy	13534955
ENSG00000168453	HR	9445480	203655	Alopecia universalis 	14944849
ENSG00000188021	UBQLN2	21857683	300857	Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia	DeMyer, W., Harter, D. H., Zeman, W. Familial spasticity, hyperkinesia and dementia: clinicopathologic observations and comments on the nosology of Hallervorden-Spatz disease. Acta Neuropath. 4: 28-45, 1964.
ENSG00000110395	CBL	20619386	613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	J. A. Noonan, D.A. Ehmke: Associated noncardiac malformations in children with congenital heart disease. [Abstract] Journal of Pediatrics, St. Louis, 1963, 63: 468-470. 
ENSG00000111199	TRPV4	20503319	168400	Parastremmatic dwarfism	Rask, M. R. Morquio-Brailsford osteochondrodystrophy and osteogenesis imperfecta: report of a patient with both conditions. J. Bone Joint Surg. Am. 45: 561-570, 1963.
ENSG00000213281	NRAS	19966803	613224	Noonan syndrome 6	J. A. Noonan, D.A. Ehmke: Associated noncardiac malformations in children with congenital heart disease. [Abstract] Journal of Pediatrics, St. Louis, 1963, 63: 468-470. 
ENSG00000125378	BMP4	18252212	607932	Microphthalmia, syndromic 6	Francois, J. Heredity in Ophthalmology. St. Louis: C. V. Mosby (pub.) 1961. P. 173.
ENSG00000189114	BLOC1S3	16385460	614077	Hermansky-Pudlak syndrome 8	F. Hermansky, P. Pudlak: Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood, New York, 1959, 14: 162-169. 
ENSG00000148400	NOTCH1	16025100	109730	Aortic valve disease 1	McKusick, V. A. Cardiovascular Sound in Health and Disease. Baltimore: Williams and Wilkins (pub.) 1958. Pp. 36-38.
ENSG00000111846	GCNT2	12424189	110800	Adult i phenotype without cataract	13292836
ENSG00000154122	ANKH	11326338	123000	Craniometaphyseal dysplasia	Jackson, W. P. U., Albright, F., Drewry, G., Hanelin, J., Rubin, M. I. Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. I. Familial metaphyseal dysplasia and craniometaphyseal dysplasia: their relation to leontiasis ossea and osteopetrosis: disorders of 'bone remodeling'. Arch. Intern. Med. 94: 871-885, 1954.
ENSG00000154122	ANKH	11326272	123000	Craniometaphyseal dysplasia	Jackson, W. P. U., Albright, F., Drewry, G., Hanelin, J., Rubin, M. I. Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. I. Familial metaphyseal dysplasia and craniometaphyseal dysplasia: their relation to leontiasis ossea and osteopetrosis: disorders of 'bone remodeling'. Arch. Intern. Med. 94: 871-885, 1954.
ENSG00000046651	OFD1	11179005	311200	Orofaciodigital syndrome I	Papillon-Leage, Mme, Psaume, J. Dysmorphie des freins buccaux: huit observations. Actual. Odontostomatol. 25: 7-26, 1954.
ENSG00000164751	PEX2	10528859	614867	Peroxisome biogenesis disorder 5B	H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192.
ENSG00000162928	PEX13	10332040	614883	Peroxisome biogenesis disorder 11A (Zellweger)	H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192.
ENSG00000162928	PEX13	10441568	614885	Peroxisome biogenesis disorder 11B	H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192.
ENSG00000162735	PEX19	10051604	614886	Peroxisome biogenesis disorder 12A (Zellweger)	H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192.
ENSG00000158578	ALAS2	1570328	300751	Anemia, sideroblastic, 1	Cooley, T. B. A severe type of hereditary anemia with elliptocytosis: interesting sequence of splenectomy. Am. J. Med. Sci. 209: 561-568, 1945.
ENSG00000166801	FAM111A	23684011	127000	Kenny-Caffey syndrome, type 2	5322798
ENSG00000103591	AAGAB	23000146	148600	Keratoderma, palmoplantar, punctate type IA	14272392
ENSG00000233608	TWIST2	20691403	227260	Focal facial dermal dysplasia 3, Setleis type	14069095
ENSG00000125398	SOX9	8001137	114290	Campomelic dysplasia with autosomal sex reversal	18918277
ENSG00000125398	SOX9	7990924	114290	Campomelic dysplasia	18918277
ENSG00000117595	IRF6	11668635	119300	van der Woude syndrome	13158329
ENSG00000167768	KRT1	11286616	146590	Ichthyosis histrix, Curth-Macklin type	14349943
ENSG00000003393	ALS2	11586298	205100	Amyotrophic lateral sclerosis 2, juvenile	13133050
ENSG00000003393	ALS2	11586297	205100	Amyotrophic lateral sclerosis 2, juvenile	13133050
ENSG00000140199	SLC12A6	12368912	218000	Agenesis of the corpus callosum with peripheral neuropathy	14397896
ENSG00000148290	SURF1	9843204	256000	Leigh syndrome, due to COX IV deficiency	14874135
ENSG00000110717	NDUFS8	9837812	256000	Leigh syndrome due to mitochondrial complex I deficiency	14874135
ENSG00000121075	TBX4	15106123	147891	Ischiocoxopodopatellar syndrome	Renwick, J. H. The genetics of the nail-patella syndrome. Ph.D. Thesis: Univ. of London , 1956.
ENSG00000174358	SLC6A19	15286787	234500	Hartnup disorder	Baron, D. N., Dent, C. E., Harris, H., Hart, E. W., Jepson, J. B. Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria and other bizarre biochemical features. Lancet 268: 421-428, 1956. Note: Originally Volume II.
ENSG00000175065	DSG4	12705872	607903	Hypotrichosis 6 	Hanhart, E. Erstmaliger Hinweis auf das Vorkommen eines monohybridrezessiven Erbgangs bei Monilethrix (Moniletrichosis). Arch. Klaus Stift. Vererbungsforsch. 30: 1-11, 1955.
ENSG00000072840	EVC	10700184	193530	Weyers acrodental dysostosis	Weyers, H. Ueber eine korrelierte Missbildung der Kiefer und Extremitatenakren (Dysostosis acro-facialis). Fortschr. Geb. Roentgenstr. 77: 562-567, 1952.
ENSG00000034693	PEX3	10958759	614882	Peroxisome biogenesis disorder 10A (Zellweger)	H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192.
ENSG00000112357	PEX7	9090383	215100	Rhizomelic chondrodysplasia punctata, type 1	De Lange, C., Janssen, T. Congenital chondrodystrophia calcificans of infant in association with other abnormalities: case. Maandschr. Kindergeneesk. 17: 67-74, 1949.
ENSG00000112357	PEX7	9090382	215100	Rhizomelic chondrodysplasia punctata, type 1	De Lange, C., Janssen, T. Congenital chondrodystrophia calcificans of infant in association with other abnormalities: case. Maandschr. Kindergeneesk. 17: 67-74, 1949.
ENSG00000112357	PEX7	9090381	215100	Rhizomelic chondrodysplasia punctata, type 1	De Lange, C., Janssen, T. Congenital chondrodystrophia calcificans of infant in association with other abnormalities: case. Maandschr. Kindergeneesk. 17: 67-74, 1949.
ENSG00000163581	SLC2A2	9354798	227810	Fanconi-Bickel syndrome	G. Fanconi, H. Bickel: Die chronische Aminoacidurie (Aminos‰urediabetes oder nephrotisch-glukosurischer Zwergwuchs) bei der Glykogenose und der Cystinkrankheit. Helvetica paediatrica acta, Basel, 1949, 4: 359-396. 
ENSG00000120708	TGFBI	9054935	608470	Corneal dystrophy, Reis-Bucklers type	Bucklers, M. Ueber eine weitere familiaere Hornhautdystrophie (Reis). Klin. Monatsbl. Augenheilkd. 114: 386-397, 1949.
ENSG00000156313	RPGR	8673101	300029	Retinitis pigmentosa 3	Falls, H. F., Cotterman, C. W. Choroidoretinal degeneration: a sex-linked form in which heterozygous women exhibit a tapetal-like retinal reflex. Arch. Ophthal. 40: 685-703, 1948.
ENSG00000011201	ANOS1	1594017	308700	Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 	Kallmann, F. J., Schoenfeld, W. A., Barrera, S. E. The genetic aspects of primary eunuchoidism. Am. J. Ment. Defic. 48: 203-236, 1944.
ENSG00000162551	ALPL	3174660	241500	Hypophosphatasia, infantile	Macey, H. B. Multiple pseudofractures: report of a case. Proc. Staff Meet. Mayo Clinic 15: 789-791, 1940.
ENSG00000125835	SNRPB	25047197	117650	Cerebrocostomandibular syndrome	5928011
ENSG00000105221	AKT2	21979934	240900	Hypoinsulinemic hypoglycemia with hemihypertrophy	13952653
ENSG00000141448	GATA6	20581743	187500	Tetralogy of Fallot	13943847
ENSG00000115020	PIKFYVE	15902656	121850	Corneal fleck dystrophy	13446668
ENSG00000112077	RHAG	18931342	185000	Overhydrated hereditary stomatocytosis	13762977
ENSG00000152661	GJA1	12457340	186100	Syndactyly, type III	14361398
ENSG00000139618	BRCA2	15689453	194070	Wilms tumor	13487328
ENSG00000152661	GJA1	11470490	241550	Hypoplastic left heart syndrome 1	13050604
ENSG00000115286	NDUFS7	10330338	256000	Leigh syndrome	14874135
ENSG00000116062	MSH6	17557300	276300	Mismatch repair cancer syndrome	13839882
ENSG00000122512	PMS2	17557300	276300	Mismatch repair cancer syndrome, 	13839882
ENSG00000076242	MLH1	17440981	276300	Mismatch repair cancer syndrome 	13839882
ENSG00000173218	VANGL1	17409324	600145	Caudal regression syndrome 	13641302
ENSG00000100749	VRK1	19646678	607596	Pontocerebellar hypoplasia type 1A	13729575
ENSG00000169692	AGPAT2	11967537	608594	Lipodystrophy, congenital generalized, type 1	13130666
ENSG00000054282	SDCCAG8	20835237	613615	Senior-Loken syndrome 7	B. Senior, A. I. Friedmann, J. L. Brando: Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. American Journal of Ophthalmology, Chicago, 1961, 52: 625-633.  
ENSG00000062038	CDH3	15805154	225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy	Albrectsen, B., Svendsen, I. B. Hypotrichosis, syndactyly, and retinal degeneration in two siblings. Acta Derm. Venerol. 1: 96-101, 1956.
ENSG00000180398	MCFD2	12717434	613625	Factor V and factor VIII, combined deficiency of	Oeri, J., Matter, M., Isenschmid, H., Hauser, F., Koller, F. Angeborener Mangel an Faktor V (Parahaemophilie) verbunden mit echter Haemophilie A bei zwei Brudern. Mod. Probl. Paediatr. 1: 575-588, 1954.
ENSG00000147804	SLC39A4	12068297	201100	Acrodermatitis enteropathica	Dillaha, C. J., Lorincz, A. L., Aavik, O. R. Acrodermatitis enteropathica: review of the literature and report of a case successfully treated with diodoquin. JAMA 152: 509-512, 1953.
ENSG00000124587	PEX6	11355018	614863	Peroxisome biogenesis disorder 4B	H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192.
ENSG00000114270	COL7A1	8541842	131850	Epidermolysis bullosa, pretibial	Kuske, H. Epidermolysis traumatica, regionar ueber beiden Tibiae zur Atrophie fuhrend, mit dominanter Vererbung. Dermatologica 91: 304-305, 1946.
ENSG00000188419	CHM	1598901	303100	Choroideremia	Shapira, T. M., Sitney, J. A. Choroideremia. Am. J. Ophthal. 26: 182-183, 1943.
ENSG00000188419	CHM	1302003	303100	Choroideremia	Shapira, T. M., Sitney, J. A. Choroideremia. Am. J. Ophthal. 26: 182-183, 1943.
ENSG00000143632	ACTA1	25938801	616852	Myopathy, scapulohumeroperoneal	4952447
ENSG00000093072	ADA2	25075847	182410	Sneddon syndrome	14278790
ENSG00000154864	PIEZO2	24726473	248700	Marden-Walker syndrome	4953364
ENSG00000167323	STIM1	23332920	160565	Myopathy, tubular aggregate 1	14187309
ENSG00000130283	GDF1	20807224	187500	Tetralogy of Fallot	13943847
ENSG00000027847	B4GALT7	10506123	130070	Ehlers-Danlos syndrome with short stature and limb anomalies	14779259
ENSG00000027847	B4GALT7	10473568	130070	Ehlers-Danlos syndrome with short stature and limb anomalies	14779259
ENSG00000138463	DIRC2	11996788	144700	Renal cell carcinoma	13070329
ENSG00000101311	FERMT1	12668616	173650	Kindler syndrome	13149722
ENSG00000128422	KRT17	9008238	184500	Steatocystoma multiplex	18098741
ENSG00000113971	NPHP3	18371931	208540	Renal-hepatic-pancreatic dysplasia 1	13626573
ENSG00000072121	ZFYVE26	18394578	270700	Spastic paraplegia 15, autosomal recessive	14409555
ENSG00000143622	RIT1	23791108	615355	Noonan syndrome 8 	J. A. Noonan, D.A. Ehmke: Associated noncardiac malformations in children with congenital heart disease. [Abstract] Journal of Pediatrics, St. Louis, 1963, 63: 468-470. 
ENSG00000112357	PEX7	12325024	614879	Peroxisome biogenesis disorder 9B	H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192.
ENSG00000197594	ENPP1	9662402	208000	Arterial calcification, generalized, of infancy, 1	Menten, M. L., Fetterman, G. H. Coronary sclerosis in infancy: report of three autopsied cases, two in siblings. Am. J. Clin. Path. 18: 805-810, 1948.
ENSG00000141837	CACNA1A	8898206	108500	Episodic ataxia, type 2	Parker, H. L. Periodic ataxia. In: Hewlett, R. M.; Nevling, A. B.; Minor, J. R.: Collected Papers of the Mayo Clinic. Philadelphia: W. B. Saunders (pub.) 1946. Pp. 642-645.
ENSG00000172062	SMN1	7813012	253300	Spinal muscular atrophy-1	Hanhart, E. Die infantile progressive spinale Muskelatrophie (Werdnig-Hoffmann) als einfach-rezessive, subletale Mutation auf Grund von 29 Faellen in 14 Sippen. Helv. Paediat. Acta 1: 110-133, 1945.
ENSG00000135341	MAP3K7	27426734	157800	Cardiospondylocarpofacial syndrome	5901343
ENSG00000032444	PNPLA6	25480986	275400	Oliver-McFarlane syndrome 	14318490
ENSG00000154864	PIEZO2	24726473	114300	Arthrogryposis, distal, type 3	14335841
ENSG00000105983	LMBR1	24456159	135750	Laurin-Sandrow syndrome	14104303
ENSG00000175535	PNLIP	24262094	614338	Pancreatic lipase deficiency 	14169458
ENSG00000184564	SLITRK6	23543054	221200	Deafness and myopia	14042467
ENSG00000167941	SOST	21221996	122860	Craniodiaphyseal dysplasia, autosomal dominant	13760661
ENSG00000160789	LMNA	10580070	115200	Cardiomyopathy, dilated, 1A	18113470
ENSG00000107779	BMPR1A	9582123	174900	Juvenile polyposis syndrome, infantile form	17859198
ENSG00000141646	SMAD4	9582123	174900	Polyposis, juvenile intestinal	17859198
ENSG00000074582	BCS1L	11528392	256000	Leigh syndrome	14874135
ENSG00000164258	NDUFS4	11181577	256000	Leigh syndrome	14874135
ENSG00000004455	AK2	19043417	267500	Reticular dysgenesis	13840590
ENSG00000170370	EMX2	8528262	269160	Schizencephaly	21026933
ENSG00000182173	TSEN54	18711368	277470	Pontocerebellar hypoplasia type 2A	13576165
ENSG00000183072	NKX2-5	14607454	614435	Hypoplastic left heart syndrome 2	13050604
ENSG00000157542	KCNJ6	25620207	614098	Keppen-Lubinsky syndrome	Lane, P. W. New mutation: Weaver, wv. Mouse News Lett. 30: 32-33, 1964.
ENSG00000182117	NOP10	17507419	224230	Dyskeratosis congenita, autosomal recessive 1	Costello, M. J., Buncke, C. M. Dyskeratosis congenita. Arch. Derm. 73: 123-132, 1956.
ENSG00000143575	HAX1	17187068	610738	Neutropenia, severe congenital 3, autosomal recessive	Kostmann, R. Infantile Genetic Agranulocytosis (agranulocytosis infantilis hereditaria): a new recessive lethal disease in man. Uppsala: Almqvist and Wiksells Boktryckeri (pub.) 1956.
ENSG00000215193	PEX26	12851857	614872	Peroxisome biogenesis disorder 7A (Zellweger)	H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192.
ENSG00000215193	PEX26	12717447	614873	Peroxisome biogenesis disorder 7B	H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192.
ENSG00000107537	PHYH	9326939	266500	Refsum disease	Refsum, S. Heredopathica atactica polyneuritiformis: a familial syndrome not hitherto described. Acta Psychiat. Scand. Suppl. 38: :1-303, 1946.
ENSG00000130600	H19	18836444	194071	Wilms tumor 2	13487328
ENSG00000198734	F5	9576178	227400	Factor V deficiency	20293060
ENSG00000265241	RBM8A	17236129	274000	Thrombocytopenia-absent radius syndrome	13418935
ENSG00000099949	LZTR1	25795793	616564	Noonan syndrome 10 	J. A. Noonan, D.A. Ehmke: Associated noncardiac malformations in children with congenital heart disease. [Abstract] Journal of Pediatrics, St. Louis, 1963, 63: 468-470. 
ENSG00000100485	SOS2	25795793	616559	Noonan syndrome 9 	J. A. Noonan, D.A. Ehmke: Associated noncardiac malformations in children with congenital heart disease. [Abstract] Journal of Pediatrics, St. Louis, 1963, 63: 468-470. 
ENSG00000165702	GFI1B	24325358	187900	Bleeding disorder, platelet-type, 17	Quick, A. J., Hussey, C. V. Hereditary thrombasthenia-thrombocytopenia. J. Lab. Clin. Med. 60: 1006 only, 1962.
ENSG00000196878	LAMB3	23958762	104530	Amelogenesis imperfecta, type IA	Steinberg, A. G., Warren, J. F., Warren, L. M. Hereditary generalized microdontia. J. Dent. Res. 40: 58-62, 1961.
ENSG00000157796	WDR19	23559409	616307	Senior-Loken syndrome 8	B. Senior, A. I. Friedmann, J. L. Brando: Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. American Journal of Ophthalmology, Chicago, 1961, 52: 625-633.  
ENSG00000104164	BLOC1S6	21665000	614171	Hermansky-pudlak syndrome 9	F. Hermansky, P. Pudlak: Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood, New York, 1959, 14: 162-169. 
ENSG00000184381	PLA2G6	16783378	256600	Infantile neuroaxonal dystrophy 1	Seitelberger, F. Eine unbekannte Form von infantiler lipoid-Speicher Krankheit des Gehirns. Proc. 1st Int. Cong. of Neuropathology, Rome, Sept. 8-13, 1952. Vol. 3. Turin: Rosenberg and Sellier (pub.) 1954. Pp. 323-333.
ENSG00000159899	NPR2	15146390	602875	Acromesomelic dysplasia, Maroteaux type	Grebe, H. Die Achondrogenesis: ein einfach rezessives Erbmerkmal. Folia Hered. Path. 2: 23-28, 1952.
ENSG00000142655	PEX14	15146459	614887	Peroxisome biogenesis disorder 13A (Zellweger)	H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192.
ENSG00000100299	ARSA	1684088	250100	Metachromatic leukodystrophy	Van Bogaert, L. V., Dewulf, A. Diffuse progressive leukodystrophy in the adult with production of metachromatic degenerative products (Alzheimer-Baroncini). Arch. Neurol. Psychiat. 42: 1083-1097, 1939.
ENSG00000100299	ARSA	1678251	250100	Metachromatic leukodystrophy	Van Bogaert, L. V., Dewulf, A. Diffuse progressive leukodystrophy in the adult with production of metachromatic degenerative products (Alzheimer-Baroncini). Arch. Neurol. Psychiat. 42: 1083-1097, 1939.
ENSG00000100299	ARSA	1676699	250100	Metachromatic leukodystrophy	Van Bogaert, L. V., Dewulf, A. Diffuse progressive leukodystrophy in the adult with production of metachromatic degenerative products (Alzheimer-Baroncini). Arch. Neurol. Psychiat. 42: 1083-1097, 1939.
ENSG00000100299	ARSA	1673291	250100	Metachromatic leukodystrophy	Van Bogaert, L. V., Dewulf, A. Diffuse progressive leukodystrophy in the adult with production of metachromatic degenerative products (Alzheimer-Baroncini). Arch. Neurol. Psychiat. 42: 1083-1097, 1939.
ENSG00000100299	ARSA	1670590	250100	Metachromatic leukodystrophy	Van Bogaert, L. V., Dewulf, A. Diffuse progressive leukodystrophy in the adult with production of metachromatic degenerative products (Alzheimer-Baroncini). Arch. Neurol. Psychiat. 42: 1083-1097, 1939.
ENSG00000126088	UROD	2920211	176100	Porphyria cutanea tarda	Waldenstrom, J. Studien ueber Porphyrie. Acta Med. Scand. 82 (suppl.): 1-254, 1937.
ENSG00000126088	UROD	2920211	176100	Porphyria, hepatoerythropoietic	Waldenstrom, J. Studien ueber Porphyrie. Acta Med. Scand. 82 (suppl.): 1-254, 1937.
ENSG00000101439	CST3	3495457	105150	Cerebral amyloid angiopathy	Arnason, A. Apoplexie und ihre Vererbung. Acta Psychiat. Neurol. 7 (suppl.): 1-180, 1935.
ENSG00000171759	PAH	3008810	261600	Hyperphenylalaninemia, non-PKU mild	Folling, A. Ueber Ausscheidung von Phenylbrenztraubensaeure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillitaet. Ztschr. Physiol. Chem. 227: 169-176, 1934.
ENSG00000171759	PAH	3008810	261600	Phenylketonuria	Folling, A. Ueber Ausscheidung von Phenylbrenztraubensaeure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillitaet. Ztschr. Physiol. Chem. 227: 169-176, 1934.
ENSG00000108821	COL1A1	4031065	166200	Osteogenesis imperfecta, type I	Bierring, K. Contribution to the perception of osteogenesis imperfecta congenita and osteopsathyrosis idiopathica as identical disorders. Acta Chir. Scand. 70: 481-492, 1933.
ENSG00000019186	CYP24A1	21675912	143880	Hypercalcemia, infantile, 1	13674824
ENSG00000085840	ORC1	21358633	224690	Meier-Gorlin syndrome 1	13672525
ENSG00000135100	HNF1A	15649945	144700	Renal cell carcinoma	13070329
ENSG00000130600	H19	16086014	180860	Silver-Russell syndrome	13099907
ENSG00000060237	WNK1	15060842	201300	Neuropathy, hereditary sensory and autonomic, type II	12976160
ENSG00000131095	GFAP	11138011	203450	Alexander disease	15409268
ENSG00000110719	TCIRG1	10888887	259700	Osteopetrosis, autosomal recessive 1	18865120
ENSG00000164904	ALDH7A1	16491085	266100	Epilepsy, pyridoxine-dependent	13133562
ENSG00000088451	TGDS	25480037	616145	Catel-Manzke syndrome 	Catel, W. Differentialdiagnose von Krankheitssymptomen bei Kindern und Jugendlichen. Vol. 1. (3rd ed.) Stuttgart: G. Thieme (pub.) 1961. Pp. 218-220.
ENSG00000104164	BLOC1S6	22461475	614171	Hermansky-pudlak syndrome 9	F. Hermansky, P. Pudlak: Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood, New York, 1959, 14: 162-169. 
ENSG00000081248	CACNA1S	8004673	170400	Hypokalemic periodic paralysis, type 1	Talbott, J. H. Periodic paralysis: a clinical syndrome. Medicine 20: 85-143, 1941.
ENSG00000171867	PRNP	2564168	137440	Cerebral amyloid angiopathy, PRNP-related	Gerstmann, J., Straussler, E., Scheinker, I. Ueber eine eigenartige hereditaer-familiaere Erkrankung des Zentralnervensystems. Z. Ges. Neurol. Psychiat. 154: 736-762, 1936.
ENSG00000139219	COL2A1	2572591	200610	Achondrogenesis, type II or hypochondrogenesis	Parenti, G. C. La anosteogenesi (una varieta della osteogenesi imperfetta). Pathologica 28: 447-462, 1936.
ENSG00000213930	GALT	5289034	230400	Galactosemia	Goppert, F. Galaktosurie nach Milchzuckergabe bei angeborenem, familiaerem chronischem Leberleiden. Klin. Wschr. 54: 473-477, 1917.
ENSG00000147416	ATP6V1B2	24913193	124480	Deafness, congenital, with onychodystrophy, autosomal dominant	13892065
ENSG00000120457	KCNJ5	21311022	613677	Hyperaldosteronism, familial, type III	13521591
ENSG00000102575	ACP5	21217755	607944	Spondyloenchondrodysplasia with immune dysregulation	13524805
ENSG00000183454	GRIN2A	20890276	245570	Epilepsy, focal, with speech disorder and with or without mental retardation	13451887
ENSG00000107779	BMPR1A	11381269	174900	Polyposis, juvenile intestinal	17859198
ENSG00000014919	COX15	15235026	256000	Leigh syndrome due to cytochrome c oxidase deficiency	14874135
ENSG00000213619	NDUFS3	14729820	256000	Leigh syndrome due to mitochondrial complex I deficiency	14874135
ENSG00000204104	TRAF3IP1	26487268	616629	Senior-Loken syndrome 9	B. Senior, A. I. Friedmann, J. L. Brando: Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. American Journal of Ophthalmology, Chicago, 1961, 52: 625-633.  
ENSG00000142173	COL6A2	18852439	255600	Myosclerosis, congenital	Lowenthal, A. Un groupe heredodegeneratif nouveau: les myoscleroses heredofamiliales. Acta Neurol. Belg. 54: 155-165, 1954.
ENSG00000173040	EVC2	16404586	193530	Weyers acrofacial dysostosis	Weyers, H. Ueber eine korrelierte Missbildung der Kiefer und Extremitatenakren (Dysostosis acro-facialis). Fortschr. Geb. Roentgenstr. 77: 562-567, 1952.
ENSG00000077782	FGFR1	15625620	166250	Osteoglophonic dysplasia 	Fairbank, T. An Atlas of General Affections of the Skeleton. Edinburgh: Churchill Livingstone (pub.) 1951. Pp. 181-183.
ENSG00000198650	TAT	1357662	276600	Tyrosinemia, type II	Richner, H. Hornhautaffektion bei Keratoma palmare et plantare hereditarium. Klin. Monatsbl. Augenheilkd. 100: 580-588, 1938.
ENSG00000135929	CYP27A1	2019602	213700	Cerebrotendinous xanthomatosis	Van Bogaert, L., Scherer, H. J., Epstein, E. Une forme cerebrale de la cholesterinose generalisee. Paris: Masson (pub.) 1937.
ENSG00000125363	AMELX	1916828	301200	Amelogenesis imperfecta, type 1E	Haldane, J. B. S. A probable new sex-linked dominant in man. J. Hered. 28: 58-60, 1937.
ENSG00000099810	MTAP	22464254	112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	13511301
ENSG00000136068	FLNB	14991055	150250	Larsen syndrome	14779259
ENSG00000160789	LMNA	10587585	151660	Lipodystrophy, familial partial, type 2	20982387
ENSG00000143382	ADAMTSL4	19200529	225100	Ectopia lentis, isolated, autosomal recessive	14388006
ENSG00000009765	IYD	18434651	274800	Thyroid dyshormonogenesis 4 	13183981
ENSG00000107890	ANKRD26	21211618	188000	Thrombocytopenia 2	Wooley, E. J. S. Familial idiopathic thrombocytopenic purpura. Brit. Med. J. 1: 440 only, 1956.
ENSG00000134324	LPIN1	18817903	268200	Myoglobinuria, acute recurrent, autosomal recessive	Hed, R. Myoglobinuria. Arch. Intern. Med. 92: 825-832, 1953.
ENSG00000172062	SMN1	8782046	253550	Spinal muscular atrophy-2	Haldane, J. B. S. The relative importance of principal and modifying genes in determining some human diseases. J. Genet. 41: 149-157, 1941.
ENSG00000156150	ALX3	19409524	136760	Frontonasal dysplasia 1	13206986
ENSG00000100345	MYH9	10973259	155100	May-Hegglin anomaly	21009925
ENSG00000135899	SP110	16648851	235550	Hepatic venoocclusive disease with immunodeficiency	14868767
ENSG00000100345	MYH9	10973259	155100	Sebastian syndrome	21009925
ENSG00000187498	COL4A1	25228067	180000	Retinal arteries, tortuosity of	Beyer, E. Familiaere Tortuositas der kleinen Netzhautarterien mit Makulablutung (Familial tortuosity of the small retinal arteries with macular hemorrhage). Klin. Monatsbl. Augenheilkd. 132: 532-539, 1958.
ENSG00000160957	RECQL4	15964893	218600	Baller-Gerold syndrome	aller, F. Radiusaplasie und Inzucht. Z. Menschl. Vererb. Konstitutionsl. 29: 782-790, 1950.
ENSG00000132464	ENAM	11487571	104500	Amelogenesis imperfecta, type IB	Weinmann, J. P., Svoboda, J. F., Woods, R. W. Hereditary disturbances of enamel formation and calcification. J. Am. Dent. Assoc. 32: 397-418, 1945.
ENSG00000091138	SLC26A3	11524734	214700	Diarrhea 1, secretory chloride, congenital	Darrow, D. C. Congenital alkalosis with diarrhea. J. Pediat. 26: 519-532, 1945.
ENSG00000140521	POLG	11431686	258450	Progressive external ophthalmoplegia, autosomal recessive 1	Franceschetti, A., De Morsier, G., Klein, D. Ueber eine neue mit Ophthalmoplegia externa progressiva kombinierte infantile Form von zerebellarer Heredoataxie (P. Marie) bei vier Geschwistern. Arch. Klaus Stift. Vererbungsforsch. 20 (suppl.): 59-81, 1945.
ENSG00000003393	ALS2	11586298	606353	Primary lateral sclerosis, juvenile	Stark, F. M., Moersch, F. P. Primary lateral sclerosis: a distinct clinical entity. J. Nerv. Ment. Dis. 102: 332-337, 1945.
ENSG00000183196	CHST6	11017086	217800	Macular corneal dystrophy	Blum, J. D. Relations entre les degenerescences heredo-familiales et les opacites congenitales de la cornee (etude clinique et genealogique). Ophthalmologica 109: 123-136, 1944.
ENSG00000187079	TEAD1	7795606	108985	Sveinsson chorioretinal atrophy	Sveinsson, K. Chorioiditis areata. Acta Ophthal. 17: 73-80, 1939.
ENSG00000152591	DSPP	7573043	125490	Dentinogenesis imperfecta, Shields type II	Roberts, E., Schour, I. Hereditary opalescent dentine--dentinogenesis imperfecta. Am. J. Orthodont. 25: 267-276, 1939.
ENSG00000152661	GJA1	25168385	104100	Palmoplantar keratoderma with congenital alopecia	13834517
ENSG00000179981	TSHZ1	22152683	607842	Aural atresia, congenital	13259384
ENSG00000164022	AIMP1	21092922	260600	Leukodystrophy, hypomyelinating, 3	13205987
ENSG00000174437	ATP2A2	12542527	101900	Acrokeratosis verruciformis	20251558
ENSG00000065000	AP3D1	26744459	617050	Hermansky-Pudlak syndrome 10,	F. Hermansky, P. Pudlak: Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood, New York, 1959, 14: 162-169. 
ENSG00000172867	KRT2	7524919	146800	Ichthyosis bullosa of Siemens	Siemens, H. W. Dichtung und Wahrheit ueber die Ichthyosis bullosa, mit Bemerkungen zur Systematik der Epidermolysen. Arch. Derm. Syph. 175: 590-608, 1937
ENSG00000015285	WAS	8069912	301000	Wiskott-Aldrich syndrome 	Wiskott, A. Familiarer, angeborener Morbus Werlhofii? Mschr. Kinderheilk. 68: 212-216, 1937.
ENSG00000157404	KIT	1717985	172800	Piebaldism	Keeler, C. E. The heredity of a congenital white spotting in Negroes. JAMA 103: 179-180, 1934.
ENSG00000204103	MAFB	22387013	166300	Multicentric carpotarsal osteolysis syndrome	13263344
ENSG00000135318	NT5E	21288095	211800	Calcification of joints and arteries 	13149051
ENSG00000154803	FLCN	15657874	173600	Pneumothorax, primary spontaneous	18867168
ENSG00000244682	FCGR2C	17827395	188030	Thrombocytopenic purpura, autoimmune	14850832
ENSG00000131495	NDUFA2	18513682	256000	Leigh syndrome due to mitochondrial complex I deficiency	14874135
ENSG00000147894	C9orf72	21944779	105550	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Robertson, E. E. Progressive bulbar paralysis showing heredofamilial incidence and intellectual impairment. Arch. Neurol. Psychiat. 69: 197-207, 1953.
ENSG00000147894	C9orf72	21944778	105550	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Robertson, E. E. Progressive bulbar paralysis showing heredofamilial incidence and intellectual impairment. Arch. Neurol. Psychiat. 69: 197-207, 1953.
ENSG00000184675	AMER1	19079258	300373	Osteopathia striata with cranial sclerosis	Fairbank, T. An Atlas of General Affections of the Skeleton. Baltimore: Williams and Wilkins (pub.) 1951.
ENSG00000000971	CFH	18252232	126700	Basal laminar drusen	Evans, P. J. Five cases of familial retinal abiotrophy. Trans. Ophthal. Soc. U.K. 70: 96, 1950.
ENSG00000120370	GORAB	18997784	231070	Geroderma osteodysplasticum	Bamatter, F., Franceschetti, A., Klein, D., Sierro, A. Gerodermie osteodysplastique hereditaire. Ann. Pediat. 174: 126-127, 1950.
ENSG00000128714	HOXD13	12649808	113300	Brachydactyly, type E	Brailsford, J. F. Familial brachydactyly. Brit. J. Radiol. 18: 167-172, 1945.
ENSG00000164099	PRSS12	12459588	249500	Mental retardation, autosomal recessive 1	Friedman, A. P., Roy, J. E. An unusual familial syndrome. J. Nerv. Ment. Dis. 99: 42-44, 1944.
ENSG00000174437	ATP2A2	10441323	124200	Darier disease	Hitch, J. M., Callaway, J. L., Moseley, V. Familial Darier's disease (keratosis follicularis). Sth. Med. J. 34: 578-586, 1941.
ENSG00000144191	CNGA3	9662398	216900	Achromatopsia 2 	Holm, E., Lodberg, C. V. Family with total color-blindness. Acta Ophthal. 18: 224-258, 1940.
ENSG00000187242	KRT12	9171831	122100	Meesmann corneal dystrophy	Meesmann, A., Wilke, F. Klinische und anatomische Untersuchungen ueber eine bisher unbekannte, dominant vererbte Epitheldystrophie der Hornhaut. Klin. Monatsbl. Augenheilkd. 103: 361-391, 1939.
ENSG00000105664	COMP	7670472	132400	Epiphyseal dysplasia, multiple, 1	Ribbing, S. Studien ueber hereditaere, multiple Epiphysenstoerungen. Acta Radiol. Suppl. 34: 7-107, 1937.
ENSG00000105664	COMP	7670471	132400	Epiphyseal dysplasia, multiple, 1	Ribbing, S. Studien ueber hereditaere, multiple Epiphysenstoerungen. Acta Radiol. Suppl. 34: 7-107, 1937.
ENSG00000102174	PHEX	7550339	307800	Hypophosphatemic rickets, X-linked dominant	Albright, F., Butler, A. M., Bloomberg, E. Rickets resistant to vitamin D therapy. Am. J. Dis. Child. 54: 529-547, 1937.
ENSG00000135903	PAX3	1347148	193500	Waardenburg syndrome, type 1	P. J. Waardenburg: Eine merkw¸rdige Kombination von angeborenen Missbildungen: doppelseitiger Hydrophthalmus verbunden mit Akrozephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen Abweichungen. Klinische Monatsbl‰tter f¸r Augenheilkunde, Stuttgart, 1934, 92: 29-44.
ENSG00000171298	GAA	2203258	232300	Glycogen storage disease II	Pompe, J. C. Over idiopathische hypertrophie van het hart. Ned. Tijdschr. Geneeskd. 76: 304-312, 1932.
ENSG00000129667	RHBDF2	22265016	148500	Tylosis with esophageal cancer	13209063
ENSG00000015133	CCDC88C	21031079	236600	Hydrocephalus, nonsyndromic, autosomal recessive	13019226
ENSG00000130283	GDF1	20413652	208530	Right atrial isomerism 	14929628
ENSG00000163635	ATXN7	7477379	164500	Spinocerebellar ataxia 7	Froment, J., Bonnet, P., Colrat, A. Heredo-degenerations retinienne et spino-cerebelleuse: variantes ophtalmoscopiques et neurologiques presentees par trois generations successives. J. Med. Lyon 153-163, 1937.
ENSG00000152661	GJA1	23951358	218400	Craniometaphyseal dysplasia, autosomal recessive	Jackson, W. P. U., Hanelin, J., Albright, F. Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions: familial metaphyseal dysplasia and craniometaphyseal dysplasia: their relation to leontiasis ossea and osteopetrosis: disorders of 'bone remodeling'. Arch. Intern. Med. 94: 871-885, 1954.
ENSG00000133835	HSD17B4	20673864	233400	Perrault syndrome 1	Perrault, M., Klotz, B., Housset, E. Deux cas de syndrome de Turner avec surdi-mutite dans une meme fratrie. Bull. Mem. Soc. Med. Hop. Paris 16: 79-84, 1951.
ENSG00000176692	FOXC2	11078474	153400	Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus	Bloom, D. Hereditary lymphedema (Nonne-Milroy-Meige). Report of a family with hereditary lymphedema associated with ptosis of the eyelids in several generations. New York J. Med. 41: 856-863, 1941.
ENSG00000176692	FOXC2	11078474	153400	Lymphedema-distichiasis syndrome	Bloom, D. Hereditary lymphedema (Nonne-Milroy-Meige). Report of a family with hereditary lymphedema associated with ptosis of the eyelids in several generations. New York J. Med. 41: 856-863, 1941.
ENSG00000156574	NODAL	9354794	270100	Heterotaxy, visceral, 5	Cockayne, E. A. The genetics of transposition of the viscera. Quart. J. Med. 7: 479-493, 1938.
ENSG00000135903	PAX3	8447316	148820	Waardenburg syndrome, type 3	P. J. Waardenburg: Eine merkw¸rdige Kombination von angeborenen Missbildungen: doppelseitiger Hydrophthalmus verbunden mit Akrozephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen Abweichungen. Klinische Monatsbl‰tter f¸r Augenheilkunde, Stuttgart, 1934, 92: 29-44.
ENSG00000101846	STS	3474618	308100	Ichthyosis, X-linked	Csorsz, K. Ichthyosis (X-linked). Mschr. Unfallheilk. Med. 2: 180, 1928. Note: Alternate: Haut. Geschlechtskr. 26: 463, 1928.
ENSG00000102030	NAA10	24431331	309800	Microphthalmia, syndromic 1	13300470
ENSG00000170477	KRT4	7493030	193900	White sponge nevus 1	Cannon, A. B. White sponge nevus of the mucosa (naevus spongiosus albus mucosae). Arch. Derm. Syph. 31: 365-370, 1935.
ENSG00000162738	VANGL2	20558380	182940	Neural tube defects	Record, R. G., McKeown, T. Congenital malformation of the central nervous system. III. Risk of malformations in sibs of malformed individuals. Brit. J. Prev. Soc. Med. 4: 217-220, 1950.
ENSG00000069011	PITX1	18950742	119800	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	Book, J. A. A contribution to the genetics of congenital clubfoot. Hereditas 34: 289-300, 1948.
ENSG00000088836	SLC4A11	16767101	217700	Corneal endothelial dystrophy, autosomal recessive	Redmond, S. P. Three sisters showing congenital opacities in the cornea. Trans. Ophthal. Soc. U.K. 66: 367-368, 1946.
ENSG00000108821	COL1A1	15864348	114000	Caffey disease	Caffey, J., Silverman, W. Infantile cortical hyperostosis, preliminary report on new syndrome. Am. J. Roentgen. 54: 1-16, 1945.
ENSG00000147100	SLC16A2	14661163	300523	Allan-Herndon-Dudley syndrome 	Allan, W., Herndon, C. N., Dudley, F. C. Some examples of the inheritance of mental deficiency: apparently sex-linked idiocy and microcephaly. Am. J. Ment. Defic. 48: 325-334, 1944.
ENSG00000130714	POMT1	12369018	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	Walker, A. E. Lissencephaly. Arch. Neurol. Psychiat. 48: 13-29, 1942.
ENSG00000132781	MUTYH	10192393	132600	Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas	Kawamura, T., Sekimura, T. Zwei Faelle von bei Bruder and Schwester vorkommendem verkalktem Epitheliom. Jpn. J. Derm. Urol. 45: 41 only, 1939.
ENSG00000196459	TRAPPC2	10431248	313400	Spondyloepiphyseal dysplasia tarda  	Jacobsen, A. W. Hereditary osteochondro-dystrophia deformans: a family with twenty members affected in five generations. JAMA 113: 121-124, 1939.
ENSG00000109501	WFS1	9817917	222300	Wolfram syndrome	Wolfram, D. J., Wagener, H. P. Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clin. Proc. 13: 715-718, 1938.
ENSG00000163132	MSX1	8696335	106600	Tooth agenesis, selective, 1, with or without orofacial cleft	Gruneberg, H. Two independent inherited tooth anomalies in one family. J. Hered. 27: 225-228, 1936.
ENSG00000171867	PRNP	8698234	137440	Gerstmann-Straussler disease	Gerstmann, J., Straussler, E., Scheinker, I. Ueber eine eigenartige hereditaer-familiaere Erkrankung des Zentralnervensystems. Z. Ges. Neurol. Psychiat. 154: 736-762, 1936.
ENSG00000155850	SLC26A2	8528239	600972	Achondrogenesis Ib	Parenti, G. C. La anosteogenesi (una varieta della osteogenesi imperfetta). Pathologica 28: 447-462, 1936.
ENSG00000187098	MITF	7874167	193510	Waardenburg syndrome, type 2A	P. J. Waardenburg: Eine merkw¸rdige Kombination von angeborenen Missbildungen: doppelseitiger Hydrophthalmus verbunden mit Akrozephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen Abweichungen. Klinische Monatsbl‰tter f¸r Augenheilkunde, Stuttgart, 1934, 92: 29-44.
ENSG00000136160	EDNRB	8001158	277580	Waardenburg syndrome, type 4A	P. J. Waardenburg: Eine merkw¸rdige Kombination von angeborenen Missbildungen: doppelseitiger Hydrophthalmus verbunden mit Akrozephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen Abweichungen. Klinische Monatsbl‰tter f¸r Augenheilkunde, Stuttgart, 1934, 92: 29-44.
ENSG00000137845	ADAM10	23666529	615537	Reticulate acropigmentation of Kitamura 	13068777
ENSG00000184752	NDUFA12	21617257	256000	Leigh syndrome due to mitochondrial complex 1 deficiency	14874135
ENSG00000149922	TBX6	23335591	122600	Spondylocostal dysostosis 5	Van de Sar, A. Hereditary multiple hemivertebrae. Doc. Med. Geograph. Trop. 4: 23-28, 1952.
ENSG00000010361	FUZ	21840926	182940	Neural tube defects	Record, R. G., McKeown, T. Congenital malformation of the central nervous system. III. Risk of malformations in sibs of malformed individuals. Brit. J. Prev. Soc. Med. 4: 217-220, 1950.
ENSG00000130158	DOCK6	21820096	614219	Adams-Oliver syndrome 2	Kahn, E. A., Olmedo, L. Congenital defect of the scalp: with a note on the closure of the scalp defects in general. Plast. Reconstr. Surg. 6: 435-440, 1950.
ENSG00000174842	GLMN	11845407	138000	Glomuvenous malformations	Kaufman, L. R., Clark, W. T. Glomus tumors: report of 4 cases in same family. Ann. Surg. 114: 1102-1105, 1941.
ENSG00000162711	NLRP3	11687797	120100	Familial cold-induced inflammatory syndrome 1	Kile, R. L., Rusk, H. A. A case of cold urticaria with unusual family history. JAMA 114: 1067-1068, 1940.
ENSG00000017260	ATP2C1	10615129	169600	Hailey-Hailey disease 	Hailey, H., Hailey, H. Familial benign chronic pemphigus: report of 13 cases in 4 generations of a family and report of 9 additional cases in 4 generations of a family. Arch. Derm. Syphilol. 39: 679-685, 1939. Note: See Also: Arch. Derm. 118: 774-780, 1982.
ENSG00000105372	RPS19	9988267	105650	Diamond-Blackfan anemia 1	Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938.
ENSG00000090932	DLL3	10364530	277300	Spondylocostal dysostosis 1, autosomal recessive	Jarcho, S., Levin, P. M. Hereditary malformation of the vertebral bodies. Bull. Johns Hopkins Hosp. 62: 216-226, 1938.
ENSG00000165699	TSC1	9529362	606690	Lymphangioleiomyomatosis	Van Stossel, E. Ueber muskulare cirrhose der lunge. Beitr. Klin. Tuberk. 90: 432-442, 1937.
ENSG00000164093	PITX2	8944018	180500	Axenfeld-Rieger syndrome, type 1	Rieger, H. Beitraege zur Kenntnis seltener Missbildungen der Iris: ueber Hypoplasie des Irisvorderblattes mit Verlagerung und Entrundung der Pupille. Albrecht von Graefes Arch. Klin. Exp. Ophthal. 133: 602-635, 1935.
ENSG00000160801	PTH1R	7701349	156400	Metaphyseal chondrodysplasia, Murk Jansen type	Jansen, M. Ueber atypische Chondrodystrophie (Achondroplasie) und ueber eine noch nicht beschriebene angeborene Wachstumsstoerung des Knochensystems: Metaphysaere Dysostosis. Z. Orthop. Chir. 61: 253-286, 1934.
ENSG00000090382	LYZ	8464497	105200	Amyloidosis, renal	Ostertag, B. Demonstration einer eigenartigen familiaeren Paramyloidose. Zbl. Path. 56: 253-254, 1932.
ENSG00000171867	PRNP	2563037	123400	Creutzfeldt-Jakob disease	Heidenhain, A. Klinische und anatomische Untersuchungen uber eine eigenartige organische Erkrankung des Zentralnervensystems im Praesenium. Z. Gesamte Neurologie Psychiatrie. 118: 49-114, 1928.
ENSG00000139180	NDUFA9	22114105	256000	Leigh syndrome due to mitochondrial complex I deficiency	14874135
ENSG00000149541	B3GAT3	21763480	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	14779259
ENSG00000139219	COL2A1	17394019	150600	Legg-Calve-Perthes disease	20988421
ENSG00000103241	FOXF1	19500772	265380	Alveolar capillary dysplasia with misalignment of pulmonary veins 	18874417
ENSG00000181027	FKRP	15121789	613153	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5	A. E. Walker: Lissencephaly. Archives of Neurology and Psychiatry, Chicago, 1942, 48: 13-29.
ENSG00000109501	WFS1	12107816	614296	Wolfram-like syndrome, autosomal dominant	Samuelson, A. Familjart upptradande synnervsatrofi och dovhet. Nordisk Med. (Hygiea) 6: 769-772, 1940.
ENSG00000155850	SLC26A2	10465113	226900	Epiphyseal dysplasia, multiple, 4	Ribbing, S. Studien ueber hereditaere multiple Epiphysenstoerungen. Acta Radiol. Suppl. 34: 7-107, 1937.
ENSG00000165699	TSC1	9242607	191100	Tuberous sclerosis-1	Gunther, M., Penrose, L. S. Genetics of epiloia. J. Genet. 31: 413-430, 1935.
ENSG00000124205	EDN3	8630502	613265	Waardenburg syndrome, type 4B	P. J. Waardenburg: Eine merkw¸rdige Kombination von angeborenen Missbildungen: doppelseitiger Hydrophthalmus verbunden mit Akrozephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen Abweichungen. Klinische Monatsbl‰tter f¸r Augenheilkunde, Stuttgart, 1934, 92: 29-44.
ENSG00000049167	ERCC8	7664335	216400	Cockayne syndrome, type A	Cockayne, E. A. Inherited Abnormalities of the Skin and its Appendages. London: Oxford Univ. Press (pub.) 1933.
ENSG00000108381	ASPA	8252036	271900	Canavan disease	M. M. Canavan: Schilder's encephalitis periaxialis diffusa. Report of a case in a child aged sixteen and one-half months. Archives of Neurology and Psychiatry, Chicago, 1931, 25: 299-308. 
ENSG00000170266	GLB1	1928092	253010	Mucopolysaccharidosis type IVB (Morquio)	Morquio, L. Sur une forme de dystrophie osseuse familiale. Bull. Soc. Pediat. Paris 27: 145-152, 1929.
ENSG00000110799	VWF	3258663	277480	von Willibrand disease, type 3	von Willebrand, E. A. Hereditar pseudohemofili. Finska Lakar. Hand. 68: 87-112, 1926
ENSG00000182578	CSF1R	22197934	221820	Leukoencephalopathy, diffuse hereditary, with spheroids	18153924
ENSG00000125398	SOX9	19449405	114290	Acampomelic campomelic dysplasia	18918277
ENSG00000180921	FAM83H	18252228	130900	Amelogenesis imperfecta, type III	Weinmann, J. P., Svoboda, J. F., Woods, R. W. Hereditary disturbances of enamel formation and calcification. J. Am. Dent. Assoc. 32: 397-418, 1945.
ENSG00000239672	NME1	18334619	256700	Neuroblastoma	Dodge, H. J., Benner, M. C. Neuroblastoma of the adrenal medulla in siblings. Rocky Mt. Med. J. 42: 35-38, 1945.
ENSG00000215612	HMX1	18423520	612109	Oculoauricular syndrome 	Franceschetti, A., Valerio, M. Malformations associees des yeux et des oreilles. Confin. Neurol. 6: 255-257, 1945.
ENSG00000009830	POMT2	15894594	613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	A. E. Walker: Lissencephaly. Archives of Neurology and Psychiatry, Chicago, 1942, 48: 13-29.
ENSG00000134086	VHL	11987242	263400	Erythrocytosis, familial, 2	Nadler, S. B., Cohn, I. Familial polycythemia. Am. J. Med. Sci. 198: 41-48, 1939.
ENSG00000001631	KRIT1	10508515	116860	Cerebral cavernous malformations-1	Michael, J. C., Levin, P. M. Multiple telangiectases of brain: a discussion of hereditary factors in their development. Arch. Neurol. Psychiat. 36: 514-536, 1936.
ENSG00000122735	DNAI1	10577904	244400	Ciliary dyskinesia, primary, 1, with or without situs inversus	Kartagener, M., Horlacher, A. Situs viscerum inversus und Polyposis nasi in einem Falle familiaerer Bronchiektasien. Beitr. Klin. Tuberk. 87: 331-333, 1936.
ENSG00000077498	TYR	9158138	103470	Waardenburg syndrome/albinism, digenic	P. J. Waardenburg: Eine merkw¸rdige Kombination von angeborenen Missbildungen: doppelseitiger Hydrophthalmus verbunden mit Akrozephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen Abweichungen. Klinische Monatsbl‰tter f¸r Augenheilkunde, Stuttgart, 1934, 92: 29-44.
ENSG00000187098	MITF	9158138	103470	Waardenburg syndrome/ocular albinism, digenic	P. J. Waardenburg: Eine merkw¸rdige Kombination von angeborenen Missbildungen: doppelseitiger Hydrophthalmus verbunden mit Akrozephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen Abweichungen. Klinische Monatsbl‰tter f¸r Augenheilkunde, Stuttgart, 1934, 92: 29-44.
ENSG00000070814	TCOF1	8875242	154500	Treacher Collins syndrome 1	Collins, E. T. Cases with symmetrical congenital notches in the outer part of each lower lid and defective development of the malar bones. Trans. Ophthal. Soc. U.K. 20: 190-192, 1933.
ENSG00000100243	CYB5R3	7668255	250800	Methemoglobinemia, type II	Hitzenberger, K. Autotoxic cyanosis due to intraglobular methemoglobinemia. Wien. Arch. Med. 23: 85-96, 1932.
ENSG00000106571	GLI3	1650914	175700	Greig cephalopolysyndactyly syndrome	Greig, D. M. Oxycephaly. Edinburgh Med. J. 33: 189-218, 1928.
ENSG00000134250	NOTCH2	21378985	102500	Hajdu-Cheney syndrome	18918373
ENSG00000164690	SHH	19533790	269160	Schizencephaly 	21026933
ENSG00000188153	COL4A5	2349482	301050	Alport syndrome	20773074
ENSG00000143368	SF3B4	22541558	154400	Acrofacial dysostosis 1, Nager type	Nager, F. R., de Reynier, J. P. Das Gehoerorgan bei den angeborenen Kopfmissbildungen. Pract. Otorhinolaryng. 10 (suppl. 2): 1-128, 1948.
ENSG00000153029	MR1	15262732	118800	Paroxysmal nonkinesigenic dyskinesia	Mount, L. A., Reback, S. Familial paroxysmal choreoathetosis: preliminary report on a hitherto undescribed clinical syndrome. Arch. Neurol. Psychiat. 44: 841-847, 1940.
ENSG00000132470	ITGB4	12485428	131800	Epidermolysis bullosa of hands and feet	Cockayne, E. A. Recurrent bullous eruption of the feet. Brit. J. Derm. Syph. 50: 358-362, 1938.
ENSG00000070748	CHAT	11172068	254210	Myasthenic syndrome, congenital, 6, presynaptic	Rothbart, H. B. Myasthenia gravis in children: its familial incidence. JAMA 108: 715-717, 1937.
ENSG00000001631	KRIT1	10814716	116860	Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations	Michael, J. C., Levin, P. M. Multiple telangiectases of brain: a discussion of hereditary factors in their development. Arch. Neurol. Psychiat. 36: 514-536, 1936.
ENSG00000100146	SOX10	9462749	613266	Waardenburg syndrome, type 4C	P. J. Waardenburg: Eine merkw¸rdige Kombination von angeborenen Missbildungen: doppelseitiger Hydrophthalmus verbunden mit Akrozephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen Abweichungen. Klinische Monatsbl‰tter f¸r Augenheilkunde, Stuttgart, 1934, 92: 29-44.
ENSG00000104899	AMH	2023927	261550	Persistent Mullerian duct syndrome, type I	Von Seemen, H. Pseudohermaphroditismus masculinus internus-kryptochismus-Hernia inguinalis congenita. Bruns' Beitr. Klin. Chir. 141: 370-379, 1927.
ENSG00000138083	SIX3	20157829	269160	Schizencephaly 	21026933
ENSG00000185303	SFTPA2	19100526	178500	Pulmonary fibrosis, idiopathic	Hamman, L., Rich, A. R. Acute diffuse interstitial fibrosis of the lungs. Bull. Johns Hopkins Hosp. 74: 177-212, 1944.
ENSG00000133424	LARGE1	17436019	613154	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6	A. E. Walker: Lissencephaly. Archives of Neurology and Psychiatry, Chicago, 1942, 48: 13-29.
ENSG00000113368	LMNB1	16951681	169500	Leukodystrophy, adult-onset, autosomal dominant	Camp, C. D., Lowenberg, K. An American family with Pelizaeus-Merzbacher disease. Arch. Neurol. Psychiat. 45: 261-264, 1941.
ENSG00000117984	CTSD	16685649	610127	Ceroid lipofuscinosis, neuronal, 10	Norman, R. M., Wood, N. A congenital form of amaurotic family idiocy. J. Neurol. Psychiat. 4: 175-190, 1941.
ENSG00000147852	VLDLR	16080122	224050	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1	Norman, R. M. Primary degeneration of the granular layer of the cerebellum: an unusual form of familial cerebellar atrophy occurring in early life. Brain 63: 365-379, 1940.
ENSG00000117595	IRF6	12219090	119500	Popliteal pterygium syndrome 1	Kopits, E. Die als 'Flughaut' bezeichneten Missbildungen und deren operative Behandlung (Musculo-dysplasia congenita). Arch. Orthop. Unfallchir. 37: 539-541, 1937.
ENSG00000100146	SOX10	10441344	611584	Waardenburg syndrome, type 2E, with or without neurologic involvement	P. J. Waardenburg: Eine merkw¸rdige Kombination von angeborenen Missbildungen: doppelseitiger Hydrophthalmus verbunden mit Akrozephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen Abweichungen. Klinische Monatsbl‰tter f¸r Augenheilkunde, Stuttgart, 1934, 92: 29-44.
ENSG00000158169	FANCC	1574115	227645	Fanconi anemia, complementation group C	G. Fanconi: Famili‰re, infantile pernicios‰hnliche An‰mie (perniziˆses Blutbild und Konstitution). Jahrbuch f¸r Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280.
ENSG00000244734	HBB	78154	603903	Sickle cell anemia	Herrick, J. B. Peculiar elongated and sickle-shaped red blood corpuscles in a case of severe anemia. Arch. Intern. Med. 6: 517-521, 1910.
ENSG00000244734	HBB	49057	603903	Sickle cell anemia	Herrick, J. B. Peculiar elongated and sickle-shaped red blood corpuscles in a case of severe anemia. Arch. Intern. Med. 6: 517-521, 1910.
ENSG00000130595	TNNT3	12865991	601680	Arthyrgryposis, distal, type 2B	21032118
ENSG00000130598	TNNI2	12592607	601680	Arthrogryposis multiplex congenita, distal, type 2B	21032118
ENSG00000031081	ARHGAP31	21565291	100300	Adams-Oliver syndrome 1	Adams, F. H., Oliver, C. P. Hereditary deformities in man due to arrested development. J. Hered. 36: 3-7, 1945.
ENSG00000001631	KRIT1	11831930	116860	Cavernous malformations of CNS and retina	Michael, J. C., Levin, P. M. Multiple telangiectases of brain: a discussion of hereditary factors in their development. Arch. Neurol. Psychiat. 36: 514-536, 1936.
ENSG00000062038	CDH3	11544476	601553	Hypotrichosis, congenital, with juvenile macular dystrophy	Wagner, H. Maculaaffektion, vergesellschaftet mit Haarabnormitat von Lanugotypus, beide vielleicht angeboren bei zwei Geschwistern. Graefes Arch. Klin. Exp. Ophthal. 134: 74-81, 1935.
ENSG00000100146	SOX10	10762540	609136	PCWH syndrome 	P. J. Waardenburg: Eine merkw¸rdige Kombination von angeborenen Missbildungen: doppelseitiger Hydrophthalmus verbunden mit Akrozephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen Abweichungen. Klinische Monatsbl‰tter f¸r Augenheilkunde, Stuttgart, 1934, 92: 29-44.
ENSG00000136156	ITM2B	10391242	176500	Dementia, familial British	Worster-Drought, C., Hill, T. R., McMenemey, W. H. Familial presenile dementia with spastic paralysis. J. Neurol. Psychopath. 14: 27-34, 1933.
ENSG00000100243	CYB5R3	9695975	250800	Methemoglobinemia, type I	Hitzenberger, K. Autotoxic cyanosis due to intraglobular methemoglobinemia. Wien. Arch. Med. 23: 85-96, 1932.
ENSG00000102218	RP2	9697692	312600	Retinitis pigmentosa 2	Waardenburg, P. J. Das menschliche Auge und seine Erbanlagen. 'S-Gravenhage: Martinus Nijhoff (pub.) 1932.
ENSG00000054598	FOXC1	9620769	601631	Anterior segment dysgenesis 3, multiple subtypes	Berg, F. Erbliches jugendliches Glaukom. Acta Ophthal. 10: 568-587, 1932.
ENSG00000122691	TWIST1	8988167	101400	Saethre-Chotzen syndrome	Saethre, M. Ein Beitrag zum Turmschaedelproblem (Pathogenese, Erblichkeit und Symptomatologie). Dtsch. Z. Nervenheilk. 119: 533-555, 1931.
ENSG00000122691	TWIST1	8988166	101400	Saethre-Chotzen syndrome	Saethre, M. Ein Beitrag zum Turmschaedelproblem (Pathogenese, Erblichkeit und Symptomatologie). Dtsch. Z. Nervenheilk. 119: 533-555, 1931.
ENSG00000225614	ZNF469	18452888	229200	Brittle cornea syndrome 1	Badtke, G. Ueber einen eigenartigen Fall von Keratokonus und blauen Skleren bei Geschwistern. Klin. Monatsbl. Augenheilkd. 106: 585-592, 1941.
ENSG00000038427	VCAN	16043844	143200	Wagner syndrome 1	Wagner, H. Ein bisher unbekanntes Erbleiden des Auges (degeneratio hyaloideo-retinalis hereditaria), beobachtet im Kanton Zurich. Klin. Monatsbl. Augenheilkd. 100: 840-858, 1938.
ENSG00000145476	CYP4V2	15042513	210370	Bietti crystalline corneoretinal dystrophy	Bietti, G. Ueber familiaeres Vorkommen von 'Retinitis punctata albescens' (verbunden mit 'Dystrophia marginalis cristallinea corneae'), Glitzern des Glaskoerpers und anderen degenerativen Augenveraenderungen. Klin. Monatsbl. Augenheilkd. 99: 737-757, 1937.
ENSG00000204370	SDHD	10657297	168000	Paragangliomas 1, with or without deafness	Chase, W. H. Familial and bilateral tumours of the carotid body. J. Path. Bact. 36: 1-12, 1933.
ENSG00000066468	FGFR2	9585583	101400	Saethre-Chotzen syndrome	Saethre, M. Ein Beitrag zum Turmschaedelproblem (Pathogenese, Erblichkeit und Symptomatologie). Dtsch. Z. Nervenheilk. 119: 533-555, 1931.
ENSG00000141012	GALNS	8651279	253000	Mucopolysaccharidosis IVA	Morquio, L. Sur une forme de dystrophie osseuse familiale. Bull. Soc. Pediat. Paris 27: 145-152, 1929.
ENSG00000110799	VWF	8456432	193400	von Willebrand disease, type 1	von Willebrand, E. A. Hereditar pseudohemofili. Finska Lakar. Hand. 68: 87-112, 1926.
ENSG00000161904	LEMD2	26788539	212500	Cataract 46, juvenile-onset	18143024
ENSG00000174804	FZD4	12172548	133780	Exudative vitreoretinopathy 1	18169329
ENSG00000113721	PDGFRB	23731537	228550	Myofibromatosis, infantile, 1	Touraine, A., Ruel, H. La polyfibromatose hereditaire. Ann. Derm. Syph. 29: 1-5, 1945.
ENSG00000105983	LMBR1	18417549	186200	Syndactyly, type IV	Haas, S. L. Bilateral complete syndactylism of all fingers. Am. J. Surg. 50: 363-366, 1940.
ENSG00000186081	KRT5	16465624	179850	Dowling-Degos disease 1	Dowling, G. B., Freudenthal, W. Acanthosis nigricans. Brit. J. Derm. 50: 467-471, 1938
ENSG00000138326	RPS24	17186470	610629	Diamond-blackfan anemia 3	Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938.
ENSG00000019549	SNAI2	12444107	608890	Waardenburg syndrome, type 2D	P. J. Waardenburg: Eine merkw¸rdige Kombination von angeborenen Missbildungen: doppelseitiger Hydrophthalmus verbunden mit Akrozephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen Abweichungen. Klinische Monatsbl‰tter f¸r Augenheilkunde, Stuttgart, 1934, 92: 29-44.
ENSG00000127990	SGCE	11528394	159900	Dystonia-11, myoclonic	Lindermulder, F. G. Familial myoclonia occurring in three successive generations. J. Nerv. Ment. Dis. 77: 489-491, 1933.
ENSG00000225830	ERCC6	10767341	278800	De Sanctis-Cacchione syndrome	de Sanctis, C., Cacchione, A. L'idiozia xerodermica. Rivista Sperimentale di Freniatria e Medicina Legale delle Alienazioni Mentali 56: 269-292, 1932.
ENSG00000136944	LMX1B	9590287	161200	Nail-patella syndrome	Oesterreicher, W. Gemeinsame Vererbung von Anonychie bzw. Onychatrophie, Patellardefekt und Luxatio radii. Dominantes Auftreten in 5 Generationen. Ztschr. Konstitutionslehre 15: 465-476, 1930.
ENSG00000162688	AGL	8755644	232400	Glycogen storage disease IIIa, Glycogen storage disease IIIb	van Creveld, S. Over een bijzondere stoornis in de koolhydraatstof-Wisseling in den kinderleeftijd. Nederl. Maandschr. Geneesk 8: 349-359, 1928.
ENSG00000114270	COL7A1	8170945	131750	Epidermolysis bullosa dystrophica, AD	Hoffman, E. Ueber den erbgang bei epidermolysis bullosa hereditaria. Arch. Rassen Gesellsch. Biol. 18: 353-368, 1926.
ENSG00000185499	MUC1	23396133	174000	Medullary cystic kidney disease 1	Thorn, G. W., Koepf, G. F., Clinton, M. Renal failure simulating adrenocortical insufficiency. New Eng. J. Med. 231: 76-85, 1944.
ENSG00000182774	RPS17	17647292	612527	Diamond-Blackfan anemia 4	Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938.
ENSG00000158813	EDA	16583127	313500	Tooth agenesis, selective, X-linked 1	Dahlberg, A. A. Inherited congenital absence of six incisors, deciduous and permanent. J. Dent. Res. 16: 59-62, 1937.
ENSG00000115339	GALNT3	15133511	211900	Tumoral calcinosis, hyperphosphatemic, familial	Teutschlaender, O. Ueber progressive Lipogranulomatose der Muskulatur. Klin. Wschr. 14: 451-453, 1935.
ENSG00000019549	SNAI2	12955764	172800	Piebaldism	Keeler, C. E. The heredity of a congenital white spotting in Negroes. JAMA 103: 179-180, 1934.
ENSG00000167207	NOD2	11385576	266600	Inflammatory bowel disease 1, Crohn disease	B. B. Crohn, L. Ginzburg, G. D. Oppenheimer: Regional ileitis; a pathologic and clinical entity. Journal of the American Medical Association; Chicago, 1932, 99: 1323-1329.
ENSG00000185960	SHOX	9590293	127300	Leri-Weill dyschondrosteosis	Leri, A., Weill, J. Une affection congenitale et symetrique du developpement osseux: la dyschondrosteose. Bull. Mem. Soc. Med. Hop. Paris. 53: 1491-1494, 1929.
ENSG00000185960	SHOX	9590293	127300	Leri-Weill dyschondrosteosis	Leri, A., Weill, J. Une affection congenitale et symetrique du developpement osseux: la dyschondrosteose. Bull. Mem. Soc. Med. Hop. Paris. 53: 1491-1494, 1929.
ENSG00000185960	SHOX	9590292	127300	Leri-Weill dyschondrosteosis	Leri, A., Weill, J. Une affection congenitale et symetrique du developpement osseux: la dyschondrosteose. Bull. Mem. Soc. Med. Hop. Paris. 53: 1491-1494, 1929.
ENSG00000185960	SHOX	9590292	127300	Leri-Weill dyschondrosteosis	Leri, A., Weill, J. Une affection congenitale et symetrique du developpement osseux: la dyschondrosteose. Bull. Mem. Soc. Med. Hop. Paris. 53: 1491-1494, 1929.
ENSG00000135409	AMHR2	8872466	261550	Persistent Mullerian duct syndrome, type II	Von Seemen, H. Pseudohermaphroditismus masculinus internus-kryptochismus-Hernia inguinalis congenita. Bruns' Beitr. Klin. Chir. 141: 370-379, 1927.
ENSG00000138675	FGF5	24989505	190330	Trichomegaly	Gray, H. Trichomegaly or movie lashes. Stanford Med. Bull. 2: 157-158, 1944.
ENSG00000163104	SMARCAD1	24664640	129200	Basan syndrome	Ludy, J. B. Congenital absence of fingerprints. Arch. Derm. Syph. 49: 373 only, 1944.
ENSG00000182899	RPL35A	18535205	612528	Diamond-Blackfan anemia 5	Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938.
ENSG00000122406	RPL5	19061985	612561	Diamond-Blackfan anemia 6	Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938.
ENSG00000142676	RPL11	19061985	612562	Diamond-Blackfan anemia 7	Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938.
ENSG00000171863	RPS7	19061985	612563	Diamond-Blackfan anemia 8	Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938.
ENSG00000118972	FGF23	15590700	211900	Tumoral calcinosis, hyperphosphatemic, familial	Teutschlaender, O. Ueber progressive Lipogranulomatose der Muskulatur. Klin. Wschr. 14: 451-453, 1935.
ENSG00000118137	APOA1	12050338	105200	Amyloidosis, 3 or more types	Ostertag, B. Demonstration einer eigenartigen familiaeren Paramyloidose. Zbl. Path. 56: 253-254, 1932.
ENSG00000165474	GJB2	10369869	124500	Vohwinkel syndrome	Vohwinkel, K. H. Keratoma hereditarium mutilans. Arch. Derm. Syph. 158: 354-364, 1929.
ENSG00000112837	TBX18	26235987	143400	Congenital anomalies of kidney and urinary tract 2	19993137
ENSG00000174804	FZD4	15733276	133780	Retinopathy of prematurity	18169329
ENSG00000167371	PRRT2	22101681	128200	Episodic kinesigenic dyskinesia 1	Mount, L. A., Reback, S. Familial paroxysmal choreoathetosis: preliminary report on a hitherto undescribed clinical syndrome. Arch. Neurol. Psychiat. 44: 841-847, 1940.
ENSG00000204264	PSMB8	21129723	256040	Autoinflammation, lipodystrophy, and dermatosis syndrome	Nakajo, A. Secondary hypertrophic osteoperiostosis with pernio (Japanese). J. Derm. Urol. 45: 77-86, 1939.
ENSG00000116014	KISS1R	18272894	176400	Precocious puberty, central, 1	Rush, H. P., Bilderback, J. B., Slocum, D., Rogers, A. Pubertas praecox (macrogenitosomia). Endocrinology 21: 404-411, 1937.
ENSG00000185344	ATP6V0A2	18157129	219200	Cutis laxa, autosomal recessive, type IIA	Debre, R., Marie, J., Seringe, P. 'Cutis laxa' avec dystrophies osseuses. Bull. Mem. Soc. Med. Hop. Paris 53: 1038-1039, 1937.
ENSG00000169432	SCN9A	17145499	167400	Paroxysmal extreme pain disorder	Thaysen, T. E. H. Proctalgia fugax: a little known form of pain in the rectum. Lancet 226: 243-246, 1935. Note: Originally Volume 2.
ENSG00000164190	NIPBL	15146185	122470	Cornelia de Lange syndrome 1	de Lange, C. Sur un type nouveau de degenerescence (typus Amstelodamensis). Arch. Med. Enfants 36: 713-719, 1933.
ENSG00000166147	FBN1	12525539	608328	Weill-Marchesani syndrome 2, dominant	G. Weill: Ectopie des cristallins et malformations gÈnÈrales. Annales díoculistique, Paris, 1932, 169: 21-44. 
ENSG00000122691	TWIST1	11977182	101400	Saethre-Chotzen syndrome with eyelid anomalies	Saethre, M. Ein Beitrag zum Turmschaedelproblem (Pathogenese, Erblichkeit und Symptomatologie). Dtsch. Z. Nervenheilk. 119: 533-555, 1931.
ENSG00000186868	MAPT	11601501	172700	Pick disease	Grunthal, E. Ueber ein Bruderpaar mit pickscher Krankheit. Ztschr. ges. Neurol. Psychiat. 129: 350-375, 1930.
ENSG00000105983	LMBR1	11090342	200500	Acheiropody	Bohomoletz, M. Further light on the handless and footless family of Brazil. Eugen. News 15: 143-145, 1930.
ENSG00000142173	COL6A2	11381124	254090	Ullrich congenital muscular dystrophy 1	Ullrich, O. Kongenitale atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegeneration Erkrankungen des neuromuskularen Systems. Z. Ges. Neurol. Psychiat. 126: 171-201, 1930.
ENSG00000221829	FANCG	9806548	614082	Fanconi anemia, complementation group G	G. Fanconi: Famili‰re, infantile pernicios‰hnliche An‰mie (perniziˆses Blutbild und Konstitution). Jahrbuch f¸r Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280.
ENSG00000166340	TPP1	9295267	204500	Ceroid lipofuscinosis, neuronal, 2	Hassin, G. B. Amaurotic family idiocy: late infantile type (Bielschowsky) with the clinical picture of decerebrate rigidity. Arch. Neurol. Psychiat. 16: 708-727, 1926.
ENSG00000121742	GJB6	11017065	129500	Ectodermal dysplasia 2, Clouston type	20317409
ENSG00000186442	KRT3	22174841	122100	Meesmann corneal dystrophy	Meesmann, A., Wilke, F. Klinische und anatomische Untersuchungen ueber eine bisher unbekannte, dominant vererbte Epitheldystrophie der Hornhaut. Klin. Monatsbl. Augenheilkd. 103: 361-391, 1939.
ENSG00000124313	IQSEC2	20473311	309530	Mental retardation, X-linked 1/78	Penrose, L. S. A Clinical and Genetic Study of 1,280 Cases of Mental Defect. London: His Majesty's Stationery Office (pub.) 1938.
ENSG00000134569	LRP4	20381006	212780	Cenani-Lenz syndactyly syndrome	Liebenam, L. Ueber gleichzeitiges Vorkommen von Gliedmassendefekten und osteosklerotischer Systemerkrunkung. Ztschr. Mensch. Vererbungs-und Konstitutionslehre 21: 697-703, 1938.
ENSG00000124614	RPS10	20116044	613308	Diamond-Blackfan anemia 9	Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938.
ENSG00000197728	RPS26	20116044	613309	Diamond-Blackfan anemia 10	Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938.
ENSG00000133116	KL	17710231	211900	Tumoral calcinosis, hyperphosphatemic	Teutschlaender, O. Ueber progressive Lipogranulomatose der Muskulatur. Klin. Wschr. 14: 451-453, 1935.
ENSG00000142303	ADAMTS10	15368195	277600	Weill-Marchesani syndrome 1, recessive	Weill, G. Ectopie du cristillins et malformations generales. Ann. Ocul. (Paris) 169: 21-44, 1932.
ENSG00000163359	COL6A3	11992252	254090	Ullrich congenital muscular dystrophy 1	Ullrich, O. Kongenitale atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegeneration Erkrankungen des neuromuskularen Systems. Z. Ges. Neurol. Psychiat. 126: 171-201, 1930.
ENSG00000109099	PMP22	9543325	180800	Roussy-Levy syndrome	Roussy, G., Levy, G. Sept cas d'une maladie familiale particulaiere. Rev. Neurol. 45: 427-450, 1926.
ENSG00000165731	RET	7906866	162300	Multiple endocrine neoplasia IIB 	Wagenmann, A. Multiple neurome des auges und der Zunge. Ber. Dtsch. Ophthal. 43: 282-285, 1922.
ENSG00000110799	VWF	2385594	613554	von Willebrand disease, types 2A, 2B, 2M, and 2N	E. A. von Willebrand: Till k‰nnedom om den aplastiska an‰mien. Finska L‰kares‰llskapets Handlingar, 1918, 60: 859-922.
ENSG00000164120	HPGD	18500342	259100	Cranioosteoarthropathy	Touraine, A., Solente, G., Gole, L. Un syndrome osteodermopathique: la pachydermie plicaturee avec pachyperiostose des extremites. Presse Med. 43: 1820-1824, 1935.
ENSG00000164120	HPGD	18500342	259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1	Touraine, A., Solente, G., Gole, L. Un syndrome osteodermopathique: la pachydermie plicaturee avec pachyperiostose des extremites. Presse Med. 43: 1820-1824, 1935.
ENSG00000157765	SLC34A2	16960801	265100	Pulmonary alveolar microlithiasis	Puhr, L. Mikrolithiasis alveolaris pulmonum. Virchow Arch. Path. Anat. 290: 156-160, 1933
ENSG00000072501	SMC1A	16604071	300590	Cornelia de Lange syndrome 2 	de Lange, C. Sur un type nouveau de degenerescence (typus Amstelodamensis). Arch. Med. Enfants 36: 713-719, 1933.
ENSG00000128714	HOXD13	16222680	186300	Syndactyly, type V	Kemp, T., Ravn, J. Ueber erbliche Hand-und Fussdeformitaeten in einem 140-koepfigen Geschlecht, nebst einigen Bemerkungen ueber Poly-und Syndaktylie beim Menschen. Acta Psychiat. Neurol. Scand. 7: 275-296, 1932.
ENSG00000136244	IL6	16150725	266600	Crohn disease-associated growth failure	B. B. Crohn, L. Ginzburg, G. D. Oppenheimer: Regional ileitis; a pathologic and clinical entity. Journal of the American Medical Association; Chicago, 1932, 99: 1323-1329.
ENSG00000140521	POLG	15122711	203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	Alpers, B. J. Diffuse progressive degeneration of gray matter of cerebrum. Arch. Neurol. Psychiat. 25: 469-505, 1931.
ENSG00000142156	COL6A1	12840783	254090	Ullrich congenital muscular dystrophy 1	Ullrich, O. Kongenitale atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegeneration Erkrankungen des neuromuskularen Systems. Z. Ges. Neurol. Psychiat. 126: 171-201, 1930.
ENSG00000112039	FANCE	11001585	600901	Fanconi anemia, complementation group E	G. Fanconi: Famili‰re, infantile pernicios‰hnliche An‰mie (perniziˆses Blutbild und Konstitution). Jahrbuch f¸r Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280.
ENSG00000183161	FANCF	10615118	603467	Fanconi anemia, complementation group F	G. Fanconi: Famili‰re, infantile pernicios‰hnliche An‰mie (perniziˆses Blutbild und Konstitution). Jahrbuch f¸r Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280.
ENSG00000158887	MPZ	10553995	180800	Roussy-Levy syndrome	Roussy, G., Levy, G. Sept cas d'une maladie familiale particulaiere. Rev. Neurol. 45: 427-450, 1926.
ENSG00000175325	PROP1	9462743	262600	Pituitary hormone deficiency, combined, 2	Hanhart, E. Ueber heredodegenerativen Zwergwuchs mit dystrophia adiposogenitalis. An hand von Untersuchungen bei drei Sippen von proportionierten Zwergen. Arch. Klaus Stift. Vererbungsforsch. 1: 181-257, 1925.
ENSG00000187266	EPOR	8093406	133100	Erythrocytosis, familial, 1	Engelking, E. Ueber familiaere Polyzythaemie und die dabei beobachteten Augenveraenderungen. Klin. Monatsbl. Augenheilkd. 64: 645-664, 1920.
ENSG00000179774	ATOH7	21441919	221900	Persistent hyperplastic primary vitreous, autosomal recessive	18169555
ENSG00000169031	COL4A3	11044206	104200	Alport syndrome, autosomal dominant	20773074
ENSG00000154864	PIEZO2	23487782	108145	Arthrogryposis, distal, type 5	Altman, H. S., Davidson, L. T. Amyoplasia congenita (arthrogryposis multiplex congenita). J. Pediat. 15: 551-557, 1939.
ENSG00000169567	HINT1	22961002	137200	Neuromyotonia and axonal neuropathy, autosomal recessive	Grund, G. Ueber genetische Beziehungen zwischen Myotonie, Muskelkraempfen und Myokymie. (Zugleich Beitrag zur Pathologie der neuralen Muskelatrophie). Dtsch. Z. Nervenheilk. 146: 3-14, 1938.
ENSG00000163017	ACTG2	22960657	155310	Visceral myopathy	Weiss, W. Zur Aetiologie des Megaduodenums. Dtsch. Z. Chir. 251: 317-330, 1938.
ENSG00000161970	RPL26	22431104	614900	Diamond-Blackfan anemia 11	Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938.
ENSG00000100815	TRIP11	20089971	200600	Achondrogenesis, type IA 	Parenti, G. C. La anosteogenesi (una varieta della osteogenesi imperfetta). Pathologica 28: 447-462, 1936.
ENSG00000108055	SMC3	17273969	610759	Cornelia de Lange syndrome 3	de Lange, C. Sur un type nouveau de degenerescence (typus Amstelodamensis). Arch. Med. Enfants 36: 713-719, 1933.
ENSG00000109063	MYH3	16642020	193700	Arthrogryposis, distal, type 2A	Lundblom, A. On congenital ulnar deviation of the fingers of familial occurrence ('deviation des doigts en coup de vent'). Acta Orthop. Scand. 3: 393-404, 1932.
ENSG00000120725	SIL1	16282978	248800	Marinesco-Sjogren syndrome	Marinesco, G., Draganesco, S., Vasiliu, D. Nouvelle maladie familiale caracterisee par une cataracte congenitale et un arret du development somato-neuro-psychique. Encephale 26: 97-109, 1931.
ENSG00000080815	PSEN1	15122701	172700	Pick disease	Grunthal, E. Ueber ein Bruderpaar mit pickscher Krankheit. Ztschr. ges. Neurol. Psychiat. 129: 350-375, 1930.
ENSG00000143815	LBR	12118250	169400	Pelger-Huet anomaly 	
ENSG00000144554	FANCD2	11239453	227646	Fanconi anemia, complementation group D2	G. Fanconi: Famili‰re, infantile pernicios‰hnliche An‰mie (perniziˆses Blutbild und Konstitution). Jahrbuch f¸r Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280.
ENSG00000269335	IKBKG	10839543	308300	Incontinentia pigmenti	Bloch, B. Eigentumliche bisher nicht beschriebene Pigmentaffektion (Incontinentia pigmenti). Schweiz. Med. Wschr. 7: 404 only, 1926.
ENSG00000108255	CRYBA1	9788845	600881	Cataract 10, multiple types	Brown, A. L. Hereditary cataract. Am. J. Ophthal. 7: 36-38, 1924.
ENSG00000077498	TYR	2511845	203100	Albinism, oculocutaneous, type IA	Haldane, J. B. S., Sprunt, A. D., Haldane, N. M. Reduplication in mice. J. Genet. 5: 133-135, 1915
ENSG00000010404	IDS	1901826	309900	Mucopolysaccharidosis II 	19979883
ENSG00000174748	RPL15	23812780	615550	Diamond-Blackfan anemia 12	Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938.
ENSG00000111199	TRPV4	18587396	113500	Brachyolmia type 3	Brown, D. O., MacDonald, C. Three cases of familial osseous dystrophy. Aust. New Zeal. J. Surg. 3: 78-88, 1933.
ENSG00000175084	DES	17439987	181400	Scapuloperoneal syndrome, neurogenic, Kaeser type	Palmer, H. D. Familial scapuloperoneal amyotrophy. Arch. Neurol. Psychiat. 28: 473-477, 1932.
ENSG00000084073	ZMPSTE24	15317753	275210	Restrictive dermopathy, lethal	Antoine, T. Ein Fall von allgemeiner, angeborener Haut-atrophie. Monatsschr. Geburtsh. Gynaekol. 81: 276-283, 1929.
ENSG00000160789	LMNA	15317753	275210	Restrictive dermopathy, lethal	Antoine, T. Ein Fall von allgemeiner, angeborener Haut-atrophie. Monatsschr. Geburtsh. Gynaekol. 81: 276-283, 1929.
ENSG00000140675	SLC5A2	12436245	233100	Renal glucosuria	Hjarne, V. Study of orthoglycaemic glycosuria with particular reference to its heritability. Acta Med. Scand. 67: 422-571, 1927.
ENSG00000139618	BRCA2	12065746	605724	Fanconi anemia, complementation group D1	G. Fanconi: Famili‰re, infantile pernicios‰hnliche An‰mie (perniziˆses Blutbild und Konstitution). Jahrbuch f¸r Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280.
ENSG00000109861	CTSC	10581027	245000	Papillon-Lefevre syndrome	Papillon, M. M., Lefevre, P. Deux cas de keratodermie palmaire et plantaire symetrique familiale (maladie de Meleda) chez le frere et la soeur: coexistence dans les deux cas d'alterations dentaires graves. Bull. Soc. Fr. Dermatol. Syphiligr. 31: 82-87, 1924.
ENSG00000136827	TOR1A	9288096	128100	Dystonia-1, torsion	Wechsler, I. S., Brock, S. Dystonia musculorum deformans with especial reference to a myostatic form and the occurrence of decerebrate rigidity phenomena. A study of six cases. Arch. Neurol. Psychiat. 8: 538-552, 1922.
ENSG00000106571	GLI3	9042919	174200	Polydactyly, postaxial, types A1 and B	Sverdrup, A. Postaxial polydactylism in six generations of a Norwegian family. J. Genet. 12: 217-240, 1922.
ENSG00000213741	RPS29	24829207	615909	Diamond-Blackfan anemia 13	Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938.
ENSG00000169884	WNT10B	18515319	225300	Split-hand/foot malformation 6	Klein, I. J. Hereditary ectrodactylism in siblings. Am. J. Dis. Child. 43: 136-142, 1932.
ENSG00000085978	ATG16L1	18852889	611081	Inflammatory bowel disease (Crohn disease) 10	B. B. Crohn, L. Ginzburg, G. D. Oppenheimer: Regional ileitis; a pathologic and clinical entity. Journal of the American Medical Association; Chicago, 1932, 99: 1323-1329.
ENSG00000174106	LEMD3	15489854	166700	Buschke-Ollendorff syndrome 	Buschke, A., Ollendorff, H. Ein Fall von Dermatofibrosis lenticularis disseminata. Derm. Wochenschr. 86: 257-262, 1928.
ENSG00000174106	LEMD3	15489854	166700	Osteopoikilosis 	Buschke, A., Ollendorff, H. Ein Fall von Dermatofibrosis lenticularis disseminata. Derm. Wochenschr. 86: 257-262, 1928.
ENSG00000115392	FANCL	12973351	614083	Fanconi anemia, complementation group L	G. Fanconi: Famili‰re, infantile pernicios‰hnliche An‰mie (perniziˆses Blutbild und Konstitution). Jahrbuch f¸r Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280.
ENSG00000143369	ECM1	11929856	247100	Urbach-Wiethe disease	Urbach, E., Wiethe, C. Lipoidosis cutis et mucosae. Virchows Arch. Path. Anat. 273: 285-319, 1929.
ENSG00000125965	GDF5	9288091	113100	Brachydactyly, type C	Pol, D. 'Brachydactylie,' 'Klinodaktylie,' Hyperphalangie und ihre Grundlagen. Virchows Arch. Path. Anat. 229: 388-530, 1921.
ENSG00000127415	IDUA	7550242	607014	Mucopolysaccharidosis Ih 	G. Hurler: ‹ber einen Typ multipler Abartungen, vorwiegend am Skelettsystem. Zeitschrift f¸r Kinderheilkunde, Berlin, 1919, 24: 220-234.
ENSG00000131469	RPL27	25424902	617408	Diamond-Blackfan anemia 	Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938.
ENSG00000177954	RPS27	25424902	617409	Diamond-Blackfan anemia 17	Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938.
ENSG00000135925	WNT10A	19559398	150400	Tooth agenesis, selective, 4	Schultz, A. H. The hereditary tendency to eliminate the upper lateral incisors. Hum. Biol. 4: 34-40, 1932.
ENSG00000140470	ADAMTS17	19836009	613195	Weill-Marchesani-like syndrome 	Weill, G. Ectopie du cristillins et malformations generales. Ann. Ocul. (Paris) 169: 21-44, 1932.
ENSG00000111670	GNPTAB	15633164	252600	Mucolipidosis III alpha/beta	Schinz, H. R., Furtwaengler, A. Zur Kenntnis einer hereditaeren Osteoarthropathie mit rezessivem Erbgang. Dtsch. Z. Chir. 207: 398-416, 1928.
ENSG00000181544	FANCB	15502827	300514	Fanconi anemia, complementation group B	G. Fanconi: Famili‰re, infantile pernicios‰hnliche An‰mie (perniziˆses Blutbild und Konstitution). Jahrbuch f¸r Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280.
ENSG00000118231	CRYGD	9927684	115700	Cataract 4, multiple types	Vogt, A. Weitere Ergebnisse der Spaltlampenmikroskopie des vorderen Bulbusabschnittes. III. (Abschnitt-Fortsetzung). Angeborene und fruh aufgetretene Linsenveranderungen. Graefes Arch. Clin. Exp. Ophthal. 108: 182-191, 1922.
ENSG00000118046	STK11	9425897	175200	Peutz-Jeghers syndrome	Peutz, J. L. A. Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane. (Dutch). Nederl. Maandschr. Geneesk. 10: 134-146, 1921.
ENSG00000171862	PTEN	9140396	158350	Lhermitte-Duclos syndrome	Lhermitte, J., Duclos, P. Sur un ganglioneurome diffus du cortex du cervelet. Bull. Assoc. Franc. Cancer 9: 99-107, 1920.
ENSG00000166311	SMPD1	2023926	607616	Niemann-Pick disease, type B	A. Niemann: Ein unbekanntes Krankheitsbild. Jahrbuch f¸r Kinderheilkunde, Berlin, N F, 1914. Volume 79: 1-10. 
ENSG00000116132	PRRX1	21294718	202650	Agnathia-otocephaly complex	17246734
ENSG00000122691	TWIST1	17343269	123100	Craniosynostosis 1	Duguid, H. An instance of familial scaphocephaly. J. Ment. Sci. 75: 704-706, 1929.
ENSG00000106571	GLI3	15811011	174700	Polydactyly, preaxial, type IV	Thomsen, O. Einige Eigenthuemlichkeiten der erblichen Poly- und Syndaktylie beim Menschen. Acta Med. Scand. 65: 609-644, 1927.
ENSG00000136492	BRIP1	16116423	609054	Fanconi anemia, complementation group J	G. Fanconi: Famili‰re, infantile pernicios‰hnliche An‰mie (perniziˆses Blutbild und Konstitution). Jahrbuch f¸r Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280.
ENSG00000100987	VSX1	11978762	148300	Keratoconus 1	Van der Hoeve, J. Vererbbarkeit des Keratokonus. Z. Augenheilkd. 52: 321-336, 1924.
ENSG00000125965	GDF5	12121354	228900	Du Pan syndrome	Du Pan, C. M. Absence congenitale du perone sans deformation du tibia: curieuses deformations congenitales des mains. Rev. Orthop. 11: 227-234, 1924.
ENSG00000105329	TGFB1	10973241	131300	Camurati-Engelmann disease	Camurati, M. Di uno raro caso di osteite simmetrica ereditaria degli arti inferiori. Chir. Organi Mov. 6: 662-665, 1922.
ENSG00000120149	MSX2	10742103	168500	Parietal foramina 1	Goldsmith, W. M. 'The Catlin mark': the inheritance of an unusual opening in the parietal bones. J. Hered. 13: 69-71, 1922.
ENSG00000143632	ACTA1	10508519	161800	Myopathy, actin, congenital, with cores	Gibson, A. Muscular infantilism. Arch. Intern. Med. 27: 338-350, 1921
ENSG00000143632	ACTA1	10508519	161800	Myopathy, actin, congenital, with excess of thin myofilaments	Gibson, A. Muscular infantilism. Arch. Intern. Med. 27: 338-350, 1921
ENSG00000143632	ACTA1	10508519	161800	Nemaline myopathy 3, autosomal dominant or recessive	Gibson, A. Muscular infantilism. Arch. Intern. Med. 27: 338-350, 1921
ENSG00000054598	FOXC1	9792859	602482	Axenfeld-Rieger syndrome, type 3	T. Axenfeld: Embryotoxon cornea posterius. Berichte der Deutschen ophthalmologischen Gesellschaft, 1920, 42: 301. 
ENSG00000092295	TGM1	7824952	242300	Ichthyosis, congenital, autosomal recessive 1	MacKee, G. M., Rosen, I. Erythrodermie congenitale ichthyosiforme: report of a case with a discussion of the clinical and histological features and a review of the literature. J. Cutan. Dis. 35: 235-251 and 511-540, 1917.
ENSG00000054983	GALC	8297359	245200	Krabbe disease	Krabbe, K. A new familial infantile form of diffuse brain-sclerosis. Brain 39: 74-114, 1916.
ENSG00000147099	HDAC8	22889856	300882	Cornelia de Lange syndrome 5 	de Lange, C. Sur un type nouveau de degenerescence (typus Amstelodamensis). Arch. Med. Enfants 36: 713-719, 1933.
ENSG00000164754	RAD21	22633399	614701	Cornelia de Lange syndrome 4	de Lange, C. Sur un type nouveau de degenerescence (typus Amstelodamensis). Arch. Med. Enfants 36: 713-719, 1933.
ENSG00000160710	ADAR	12916015	127400	Dyschromatosis symmetrica hereditaria	Komaya, G. Symmetrische Pigmentanomalie der Extremitaeten. Arch. Derm. Syph. 147: 389-393, 1924.
ENSG00000103249	CLCN7	11741829	166600	Osteopetrosis, autosomal dominant 2	Ghormley, R. K. A case of congenital osteosclerosis. Bull. Johns Hopkins Hosp. 33: 444-446, 1922.
ENSG00000125779	PANK2	11479594	234200	Neurodegeneration with brain iron accumulation 1	Hallervorden, J., Spatz, H. Eigenartige Erkrankung im extrapyramidalen System mit besonderer Beteiligung des Globus pallidus und der Substantia nigra.: Ein Beitrag zu den Beziehungen zwischen diesen beiden Zentren. Z. Ges. Neurol. Psychiat. 79: 254-302, 1922.
ENSG00000077943	ITGA8	24439109	191830	Renal hypodysplasia/aplasia 1	Madisson, H. Ueber das Fehlen beider Nieren (Aplasia renum bilateralis). Centrabl. Path. Anat. 60: 1-8, 1934.
ENSG00000145979	TBC1D7	23687350	248000	Macrocephaly/megalencephaly syndrome, autosomal recessive	Weil, A. Megalencephaly with diffuse glioblastomatosis of the brain stem and the cerebellum. Arch. Neurol. Psychiat. 30: 795-809, 1933.
ENSG00000157766	ACAN	20137779	165800	Osteochondritis dissecans, short stature, and early-onset osteoarthritis	Harbin, M., Zollinger, R. M. Osteochondritis of growth centers. Surg. Gynec. Obstet. 51: 145-161, 1930.
ENSG00000140525	FANCI	17452773	609053	Fanconi anemia, complementation group I	G. Fanconi: Famili‰re, infantile pernicios‰hnliche An‰mie (perniziˆses Blutbild und Konstitution). Jahrbuch f¸r Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280.
ENSG00000083093	PALB2	17200672	610832	Fanconi anemia, complementation group N	G. Fanconi: Famili‰re, infantile pernicios‰hnliche An‰mie (perniziˆses Blutbild und Konstitution). Jahrbuch f¸r Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280.
ENSG00000083093	PALB2	17200671	610832	Fanconi anemia, complementation group N	G. Fanconi: Famili‰re, infantile pernicios‰hnliche An‰mie (perniziˆses Blutbild und Konstitution). Jahrbuch f¸r Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280.
ENSG00000070193	FGF10	15654336	180920	Aplasia of lacrimal and salivary glands	Blackmar, F. B. Congenital atresia of all lacrimal puncta with absence of salivary glands. Am. J. Ophthal. 8: 139-140, 1925.
ENSG00000113262	GRM6	15781871	257270	Night blindness, congenital stationary (complete), 1B, autosomal recessive	Gassler, V. J. Ueber eine bis jetzt nicht bekannte recessive Verknuepfung von hochgradiger Myopie mit angeborener Hemeralopie. Arch. Klaus Stift. Vererbungsforsch. 1: 259-272, 1925.
ENSG00000128714	HOXD13	12649808	113200	Brachydactyly, type D	Breitenbecher, J. K. Hereditary shortness of thumbs. J. Hered. 14: 15-21, 1923.
ENSG00000125863	MKKS	10973238	605231	Bardet-Biedl syndrome 6	Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479.
ENSG00000101850	GPR143	7647783	300500	Ocular albinism, type I, Nettleship-Falls type	Engelhard, C. F. Eine Familie mit hereditaerem Nystagmus. Z. Ges. Neurol. Psychiat. 28: 319-338, 1915.
ENSG00000158813	EDA	8434608	305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	J. Christ: ‹ber die kongenitalen ectodermalen Defekte und Ihre Beziehungen zu einander; vikariirendes Pigment f¸r Haarbildung. Archiv f¸r Dermatologie und Syphilis, Berlin, 1913, 116: 685-703. 
ENSG00000123560	PLP1	2773936	312080	Pelizaeus-Merzbacher disease	Merzbacher, L. Gesetzmaessigkeiten in der Vererbung und Verbreitung verschiedener hereditaer-familiaerer Erkrankungen. Arch. Rass. Ges. Biol. 6: 172-198, 1909.
ENSG00000121905	HPCA	25799108	224500	Dystonia 2, torsion, autosomal recessive	Santangelo, G. Contributo clinico alla conoscenza delle forme familiari della dysbasia lordotica progressiva (spasmo di torsione). G. Psychiat. Neuropat. 62: 52-77, 1934.
ENSG00000169432	SCN9A	23596073	243000	HSAN2D, autosomal recessive	Dearborn, G. A case of congenital general pure analgesia. J. Nerv. Ment. Dis. 75: 612-615, 1932.
ENSG00000112562	SMOC2	22152679	125400	Dentin dysplasia, type I, with microdontia and misshapen teeth	Herbst, E., Apffelstaedt, M. (eds.). Malformations of the Jaws and Teeth. New York: Oxford University Press , 1930. P. 286.
ENSG00000125124	BBS2	11285252	615981	Bardet-Biedl syndrome 2	Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479.
ENSG00000140463	BBS4	11381270	615982	Bardet-Biedl syndrome 4 	Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479.
ENSG00000180210	F2	9869612	188050	Thrombophilia due to thrombin defect	Fisher, R. A. Correlation between relatives on the supposition of mendelian inheritance. Trans. Roy. Soc. Edinburgh 52: 399-433, 1918.
ENSG00000137474	MYO7A	7870171	276900	Usher syndrome, type 1B	Usher, C. H. On the inheritance of retinitis pigmentosa, with notes of cases. Roy. Lond. Ophthal. Hosp. Rep. 19: 130-236, 1914.
ENSG00000123191	ATP7B	8298639	277900	Wilson disease	Wilson, S. A. K. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain 34: 295-507, 1912.
ENSG00000165688	PMPCA	25808372	213200	Spinocerebellar ataxia, autosomal recessive 2	Scherer, H. J. Beitraege zur pathologischen Anatomie des Kleinhirns: genuine Kleinhirnatrophien. Z. Neurol. Psychiat. 145: 335-405, 1933.
ENSG00000187741	FANCA	19423727	227650	Fanconi anemia, complementation group A	G. Fanconi: Famili‰re, infantile pernicios‰hnliche An‰mie (perniziˆses Blutbild und Konstitution). Jahrbuch f¸r Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280.
ENSG00000186847	KRT14	16960809	161000	Naegeli-Franceschetti-Jadassohn syndrome	Naegeli, B. Familiarer Chromatophorennavus. Schweiz. Med. Wschr. 8: 48 only, 1927.
ENSG00000213024	NUP62	16786527	271930	Striatonigral degeneration, infantile	Paterson, D., Carmichael, E. A. Form of familial cerebral degeneration chiefly affecting the lenticular nucleus. Brain 47: 207-231, 1924.
ENSG00000165694	FRMD7	17013395	310700	Nystagmus 1, congenital, X-linked	Hemmes, G. C. Over hereditairen Nystagmus. Thesis: Utrecht (pub.) 1924.
ENSG00000165694	FRMD7	17013395	310700	Nystagmus, infantile periodic alternating, X-linked	Hemmes, G. C. Over hereditairen Nystagmus. Thesis: Utrecht (pub.) 1924.
ENSG00000068078	FGFR3	8078586	100800	Achondroplasia	Weinberg, W. Zur Vererbung des Zwergwuchses. Arch. Rass. Ges. Biol. 9: 710-717, 1912.
ENSG00000068078	FGFR3	7913883	100800	Achondroplasia	Weinberg, W. Zur Vererbung des Zwergwuchses. Arch. Rass. Ges. Biol. 9: 710-717, 1912.
ENSG00000066468	FGFR2	7987400	123500	Crouzon syndrome	Crouzon, O. Dysostose cranio-faciale hereditaire. Bull. Mem. Soc. Med. Hop. Paris 33: 545-555, 1912.
ENSG00000259384	GH1	8288694	173100	Growth hormone deficiency, isolated, type II	Rischbieth, H., Barrington, A. Dwarfism. In: Pearson, K. (ed.): Treasury of Human Inheritance. Vol. 1. Part 7. Sec. 15A. London: Dulau and Co. (pub.) 1912. P. 355.
ENSG00000169083	AR	7937057	300068	Androgen insensitivity	Dieffenbach, H. Familiaerer Hermaphroditismus. Inaug. Dissert.: Stuttgart (pub.) 1912.
ENSG00000165733	BMS1	23785305	107600	Aplasia cutis congenita, nonsyndromic	29639888
ENSG00000139190	VAMP1	22958904	108600	Spastic ataxia 1, autosomal dominant	Ferguson, F. R., Critchley, M. A clinical study of an heredo-familial disease resembling disseminated sclerosis. Brain 52: 203-225, 1929.
ENSG00000108384	RAD51C	20400963	613390	Fanconi anemia, complementation group O	G. Fanconi: Famili‰re, infantile pernicios‰hnliche An‰mie (perniziˆses Blutbild und Konstitution). Jahrbuch f¸r Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280.
ENSG00000120942	UBIAD1	17668063	121800	Corneal dystrophy, Schnyder type	Van Went, J. M., Wibaut, F. Een Zeldzame erfelijke hoornvliesaandoening. Ned. Tijdschr. Geneeskd. 68: 2996-2997, 1924.
ENSG00000152661	GJA1	12457340	164200	Oculodentodigital dysplasia	Lohmann, W. Beitrag zur Kenntnis des reinen Mikrophthalmus. Arch. Augenheilk. 86: 136-141, 1920.
ENSG00000138686	BBS7	12567324	615984	Bardet-Biedl syndrome 7	Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479.
ENSG00000165533	TTC8	14520415	615985	Bardet-Biedl syndrome 8 	Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479.
ENSG00000100836	PABPN1	9462747	164300	Oculopharyngeal muscular dystrophy 	Taylor, E. W. Progressive vagus-glossopharyngeal paralysis with ptosis: contribution to group of family diseases. J. Nerv. Ment. Dis. 42: 129-139, 1915.
ENSG00000183691	NOG	10080184	185800	Symphalangism, proximal, 1A	17245852
ENSG00000183691	NOG	10080184	186500	Multiple synostoses syndrome 1	17245852
ENSG00000188827	SLX4	21240277	613951	Fanconi anemia, complementation group P	G. Fanconi: Famili‰re, infantile pernicios‰hnliche An‰mie (perniziˆses Blutbild und Konstitution). Jahrbuch f¸r Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280.
ENSG00000168453	HR	19122663	146550	Hypotrichosis 4	Unna, M. Ueber Hypotrichosis congenita hereditaria. Derm. Wschr. 81: 1167-1178, 1925.
ENSG00000144452	ABCA12	15756637	242500	Ichthyosis, congenital, autosomal recessive 4B (harlequin)	Thomson, M. S., Wakeley, C. P. G. The harlequin foetus. J. Obstet. Gynaec. Brit. Commun. 28: 190-203, 1921.
ENSG00000171320	ESCO2	16380922	269000	SC phocomelia syndrome	O'Brien, H. R., Mustard, H. S. An adult living case of total phocomelia. JAMA 77: 1964-1967, 1921.
ENSG00000113966	ARL6	15314642	600151	Bardet-Biedl syndrome 3	Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479.
ENSG00000113966	ARL6	15258860	600151	Bardet-Biedl syndrome 3	Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479.
ENSG00000163093	BBS5	15137946	615983	Bardet-Biedl syndrome 5	Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479.
ENSG00000042781	USH2A	9624053	276901	Usher syndrome, type 2A	Usher, C. H. On the inheritance of retinitis pigmentosa, with notes of cases. Roy. Lond. Ophthal. Hosp. Rep. 19: 130-236, 1914.
ENSG00000198691	ABCA4	8275096	248200	Fundus flavimaculatus	Stargardt, K. Ueber familiare, progressive Degeneration in der Makulagegend des Auges. Albrecht von Graefes Arch. Klin. Exp. Ophthal. 71: 534-549, 1909.
ENSG00000142192	APP	1908231	104300	Alzheimer disease 1, familial	Alzheimer, A. Ueber eine eigenartige Erkrankung der Himrinde. Allg. Z. Psychiat. Med. 64: 146-148, 1907.
ENSG00000142192	APP	1678058	104300	Alzheimer disease 1, familial	Alzheimer, A. Ueber eine eigenartige Erkrankung der Himrinde. Allg. Z. Psychiat. Med. 64: 146-148, 1907.
ENSG00000142192	APP	1671712	104300	Alzheimer disease 1, familial	Alzheimer, A. Ueber eine eigenartige Erkrankung der Himrinde. Allg. Z. Psychiat. Med. 64: 146-148, 1907.
ENSG00000196468	FGF16	23709756	309630	Metacarpal 4-5 fusion 	Orel, H. Kleine Beitrage zur Vererbungswissenschaft. Synostosis metacarpi quarti et quinti. Z. Anat. 14: 244-252, 1928.
ENSG00000101076	HNF4A	22802087	616026	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young	G. Fanconi: Famili‰re, infantile pernicios‰hnliche An‰mie (perniziˆses Blutbild und Konstitution). Jahrbuch f¸r Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280.
ENSG00000167723	TRPV3	22405088	614594	Olmsted syndrome	Olmsted, H. C. Keratodermia palmaris et plantaris congenitalis: report of a case showing associated lesions of unusual location. Am. J. Dis. Child. 33: 757-764, 1927.
ENSG00000196584	XRCC2	22232082	617247	?Fanconi anemia, complementation group U	G. Fanconi: Famili‰re, infantile pernicios‰hnliche An‰mie (perniziˆses Blutbild und Konstitution). Jahrbuch f¸r Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280.
ENSG00000122507	BBS9	16380913	615986	Bardet-Biedl syndrome 9	Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479.
ENSG00000184292	TACSTD2	10192395	204870	Corneal dystrophy, gelatinous drop-like	Nakaizumi, K. A rare case of corneal dystrophy. Acta Soc. Ophthal. Jpn. 18: 949-950, 1914
ENSG00000133256	PDE6B	8075643	163500	Night blindness, congenital stationary, autosomal dominant 2	Rambusch, S. H. A. Den medfodte Natteblindheds Arvelighedsforhold: oversigt over det Kgl. Danske Videnskabernes Selskabs Forhandlinger 313: 337-347, 1909.
ENSG00000175595	ERCC4	23623386	615272	Fanconi anemia, complementation group Q	G. Fanconi: Famili‰re, infantile pernicios‰hnliche An‰mie (perniziˆses Blutbild und Konstitution). Jahrbuch f¸r Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280.
ENSG00000128973	CLN6	21549341	204300	Ceroid lipofuscinosis, neuronal, Kufs type, adult onset	Kufs, H. Ueber eine Spatform der amaurotischen Idiotie und ihre heredofamiliaren Grundlagen. Z. Ges. Neurol. Psychiat. 95: 169-188, 1925.
ENSG00000179941	BBS10	16582908	615987	Bardet-Biedl syndrome 10 	Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479.
ENSG00000119401	TRIM32	16606853	615988	Bardet-Biedl syndrome 11	Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479.
ENSG00000171320	ESCO2	15821733	268300	Roberts syndrome	Roberts, J. B. A child with double cleft of lip and palate, protrusion of the intermaxillary portion of the upper jaw and imperfect development of the bones of the four extremities. Ann. Surg. 70: 252-254, 1919.
ENSG00000105983	LMBR1	12837695	174500	Triphalangeal thumb-polysyndactyly syndrome	Atwood, E. S., Pond, C. P. A polydactylous family. J. Hered. 8: 96 only, 1917.
ENSG00000006611	USH1C	10973247	276904	Usher syndrome, type 1C	Usher, C. H. On the inheritance of retinitis pigmentosa, with notes of cases. Roy. Lond. Ophthal. Hosp. Rep. 19: 130-236, 1914.
ENSG00000119655	NPC2	11125141	607625	Niemann-pick disease, type C2	A. Niemann: Ein unbekanntes Krankheitsbild. Jahrbuch f¸r Kinderheilkunde, Berlin, N F, 1914. Volume 79: 1-10. 
ENSG00000130203	APOE	8346443	104310	Alzheimer disease-2	Alzheimer, A. Ueber eine eigenartige Erkrankung der Himrinde. Allg. Z. Psychiat. Med. 64: 146-148, 1907.
ENSG00000141837	CACNA1A	8898206	141500	Migraine, familial hemiplegic, 1	20765161
ENSG00000143473	KCNH1	25915598	135500	Zimmermann-Laband syndrome 1	Zimmermann, K. W. Ueber Anomalien des Ektoderms. Vjschr. Zahnheilk. 44: 419-434, 1928.
ENSG00000065618	COL17A1	25676728	122400	Epithelial recurrent erosion dystrophy	Franceschetti, A. Hereditaere rezidivierende Erosion der Hornhaut. Z. Augenheilk. 66: 309-316, 1928.
ENSG00000181004	BBS12	17160889	615989	Bardet-Biedl syndrome 12	Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479.
ENSG00000163646	CLRN1	11524702	276902	Usher syndrome, type 3A	Usher, C. H. On the inheritance of retinitis pigmentosa, with notes of cases. Roy. Lond. Ophthal. Hosp. Rep. 19: 130-236, 1914.
ENSG00000107736	CDH23	11138009	601067	Usher syndrome, type 1D	C. H. Usher: On the inheritance of retinitis pigmentosa, with notes of cases. Royal London Ophthalmological Hospital Report, 1914, 19: 130-236. 
ENSG00000150275	PCDH15	11398101	602083	Usher syndrome, type 1F	C. H. Usher: On the inheritance of retinitis pigmentosa, with notes of cases. Royal London Ophthalmological Hospital Report, 1914, 19: 130-236. 
ENSG00000189433	GJB4	9843209	133200	Erythrokeratodermia variabilis with erythema gyratum repens	Darier, J. Erythro-keratodermie verruqueuse en nappes, symetrique et progressive. Bull. Soc. Franc. Derm. Syph. 22: 252-264, 1911.
ENSG00000112425	EPM2A	9771710	254780	Epilepsy, progressive myoclonic 2A (Lafora)	Lafora, G. R., Glueck, B. Beitrag zur histpathologie der myoklonischen Epilepsie. Z. Ges. Neurol. Psychiat. 6: 1-14, 1911.
ENSG00000163914	RHO	7846071	610445	Night blindness, congenital stationary, autosomal dominant 1	Bordley, J. A family of hemeralopes. Bull. Johns Hopkins Hosp. 19: 278-281, 1908.
ENSG00000051180	RAD51	26681308	617244	Fanconi anemia, complementation group R	G. Fanconi: Famili‰re, infantile pernicios‰hnliche An‰mie (perniziˆses Blutbild und Konstitution). Jahrbuch f¸r Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280.
ENSG00000077152	UBE2T	26046368	616435	Fanconi anemia, complementation group T	G. Fanconi: Famili‰re, infantile pernicios‰hnliche An‰mie (perniziˆses Blutbild und Konstitution). Jahrbuch f¸r Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280.
ENSG00000011143	MKS1	18327255	615990	Bardet-Biedl syndrome 13 	Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479.
ENSG00000198707	CEP290	18327255	615991	Bardet-Biedl syndrome 14	Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479.
ENSG00000130826	DKC1	9590285	305000	Dyskeratosis congenita, X-linked	F. Zinsser: Iconographia dermatologica, syphilidologica et urologica, Kyoto, 1910, 5: 219-223. 
ENSG00000198691	ABCA4	9054934	248200	Retinal dystrophy, early-onset severe	Stargardt, K. Ueber familiare, progressive Degeneration in der Makulagegend des Auges. Albrecht von Graefes Arch. Klin. Exp. Ophthal. 71: 534-549, 1909.
ENSG00000198691	ABCA4	9054934	248200	Stargardt disease 1	Stargardt, K. Ueber familiare, progressive Degeneration in der Makulagegend des Auges. Albrecht von Graefes Arch. Klin. Exp. Ophthal. 71: 534-549, 1909.
ENSG00000130561	SAG	7670478	258100	Oguchi disease-1	Oguchi, C. Ueber eine Abart von Hemeralopie. Acta Soc. Ophthal. Jpn. 11: 123-134, 1907. Note: Article in Japanese.
ENSG00000143801	PSEN2	7638622	606889	Alzheimer disease-4	Alzheimer, A. Ueber eine eigenartige Erkrankung der Himrinde. Allg. Z. Psychiat. Med. 64: 146-148, 1907.
ENSG00000080815	PSEN1	7596406	607822	Alzheimer disease, type 3	Alzheimer, A. Ueber eine eigenartige Erkrankung der Himrinde. Allg. Z. Psychiat. Med. 64: 146-148, 1907.
ENSG00000080815	PSEN1	7596406	607822	Alzheimer disease, type 3, with spastic paraparesis and apraxia	Alzheimer, A. Ueber eine eigenartige Erkrankung der Himrinde. Allg. Z. Psychiat. Med. 64: 146-148, 1907.
ENSG00000080815	PSEN1	7596406	607822	Alzheimer disease, type 3, with spastic paraparesis and unusual plaques	Alzheimer, A. Ueber eine eigenartige Erkrankung der Himrinde. Allg. Z. Psychiat. Med. 64: 146-148, 1907.
ENSG00000007372	PAX6	8162071	604229	Anterior segment dysgenesis 5, multiple subtypes	Peters, A. Ueber angeborene Defektbildung der Descemetschen Membran. Klin. Monatsbl. Augenheilkd. 44: 27-40 and 105-119, 1906.
ENSG00000116670	MAD2L2	27500492	617243	Fanconi anemia, complementation group V	G. Fanconi: Famili‰re, infantile pernicios‰hnliche An‰mie (perniziˆses Blutbild und Konstitution). Jahrbuch f¸r Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280.
ENSG00000141527	CARD14	22703878	173200	Pityriasis rubra pilaris	Zeisler, E. P. Pityriasis rubra pilaris--familial type. Arch. Derm. Syph. 7: 195-208, 1923.
ENSG00000187091	PLCD1	21665001	151600	Nail disorder, nonsyndromic congenital, 3, (leukonychia)	Sibley, K. Leuconychia striata. Brit. J. Derm. Syph. 34: 238-239, 1922.
ENSG00000204539	CDSN	20691404	270300	Peeling skin syndrome 1 	Fox, H. Skin shedding (keratolysis exfoliativa congenita): report of a case. (Abstract) Arch. Derm. Syph. 3: 202 only, 1921.
ENSG00000182040	USH1G	12588794	606943	Usher syndrome, type 1G	C. H. Usher: On the inheritance of retinitis pigmentosa, with notes of cases. Royal London Ophthalmological Hospital Report, 1914, 19: 130-236. 
ENSG00000121634	GJA8	9497259	116200	Cataract 1, multiple types	Harman, N. B. Congenital cataract, a pedigree of five generations. Trans. Ophthal. Soc. U.K. 29: 101-108, 1909.
ENSG00000198691	ABCA4	9781034	248200	Fundus flavimaculatus	Stargardt, K. Ueber familiare, progressive Degeneration in der Makulagegend des Auges. Albrecht von Graefes Arch. Klin. Exp. Ophthal. 71: 534-549, 1909.
ENSG00000103313	MEFV	9288094	249100	Familial Mediterranean fever, AR	Janeway, T. C., Mosenthal, H. O. An unusual paroxysmal syndrome, probably allied to recurrent vomiting, with a study of the nitrogen metabolism. Trans. Assoc. Am. Phys. 23: 504-518, 1908
ENSG00000066468	FGFR2	7719344	101200	Apert syndrome	Apert, M. E. De l'acrocephalosyndactylie. Bull. Mem. Soc. Med. Hop. Paris 23: 1310-1330, 1906.
ENSG00000186832	KRT16	7539673	167200	Pachyonychia congenita 1	Jadassohn, J., Lewandowsky, F. Pachyonychia congenita. In: Jacobs Ikonographia Dermatologica. Vol. 1. Berlin: Urban and Schwarzenberg (pub.) 1906. P. 29.
ENSG00000134086	VHL	8493574	193300	von Hippel-Lindau syndrome	von Hippel, E. Ueber eine sehr seltene Erkrankung der Netzhaut. Albrecht von Graefes Arch. Ophthal. 59: 83-106, 1904.
ENSG00000141837	CACNA1A	9915947	141500	Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia	20765161
ENSG00000054282	SDCCAG8	20835237	615993	Bardet-Biedl syndrome 	Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479.
ENSG00000143382	ADAMTSL4	20702823	225200	Ectopia lentis et pupillae	Siemens, H. W. Ueber die Aetiologie der Ectopia lentis et pupillae. Albrecht von Graefes Arch. Klin. Exp. Ophthal. 109: 359-383, 1920.
ENSG00000143951	WDPCP	20671153	615992	Bardet-Biedl syndrome 15	Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479.
ENSG00000174483	BBS1	20177705	209900	Bardet-Biedl syndrome 1 	Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479.
ENSG00000049130	KITLG	19375057	145250	Hyperpigmentation with or without hypopigmentation	Wende, G. W., Bauckus, H. H. A hitherto undescribed generalized pigmentation of the skin appearing in infancy in brother and sister. J. Cutan. Dis. 37: 685-701, 1919.
ENSG00000105983	LMBR1	17152067	174500	Triphalangeal thumb, type I	Atwood, E. S., Pond, C. P. A polydactylous family. J. Hered. 8: 96 only, 1917.
ENSG00000164199	ADGRV1	14740321	605472	Usher syndrome, type 2C	C. H. Usher: On the inheritance of retinitis pigmentosa, with notes of cases. Royal London Ophthalmological Hospital Report, 1914, 19: 130-236. 
ENSG00000186862	PDZD7	14740321	605472	Usher syndrome, type IIC, GPR98/PDZD7 digenic	C. H. Usher: On the inheritance of retinitis pigmentosa, with notes of cases. Royal London Ophthalmological Hospital Report, 1914, 19: 130-236. 
ENSG00000185974	GRK1	9020843	613411	Oguchi disease-2	C. Oguchi: ‹ber eine Abart von Hemeralopie. [Concerning a variety of night blindness] First published in the Japanese language. Acta Societatis 
ophthalmologicae Japonicae. Nippon Ganka Gakkai Zasshi, Tokyo, 1907, 11 
(3): 123-134.
ENSG00000259384	GH1	8288694	262400	Growth hormone deficiency, isolated, type IA	Gilford, H. Ateleiosis and progeria: continuous youth and premature old age. Brit. Med. J. 2: 914-918, 1904.
ENSG00000164120	HPGD	18805827	119900	Digital clubbing, isolated congenital	20769632
ENSG00000101938	CHRDL1	22284829	309300	Megalocornea 1, X-linked 	Gronholm, V. Ueber die Vererbung der Megalokornea nebst einem Beitrag zur Frage des genetischen Zusammenhanges zwischen Megalokornea und Hydrophthalmus. Klin. Monatsbl. Augenheilkd. 67: 1-15, 1921.
ENSG00000105983	LMBR1	18178630	174500	Polydactyly, preaxial type II	Atwood, E. S., Pond, C. P. A polydactylous family. J. Hered. 8: 96 only, 1917.
ENSG00000107736	CDH23	15537665	601067	Usher syndrome, type 1D/F digenic	C. H. Usher: On the inheritance of retinitis pigmentosa, with notes of cases. Royal London Ophthalmological Hospital Report, 1914, 19: 130-236. 
ENSG00000150275	PCDH15	15537665	601067	Usher syndrome, type 1D/F digenic	C. H. Usher: On the inheritance of retinitis pigmentosa, with notes of cases. Royal London Ophthalmological Hospital Report, 1914, 19: 130-236. 
ENSG00000102393	GLA	2539398	301500	Fabry disease	Fabry, J. Ein Beitrag Zur Kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa hemorrhagica Hebrae). Arch. Derm. Syph. 43: 187-200, 1898.
ENSG00000102393	GLA	2539398	301500	Fabry disease, cardiac variant	Fabry, J. Ein Beitrag Zur Kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa hemorrhagica Hebrae). Arch. Derm. Syph. 43: 187-200, 1898.
ENSG00000163818	LZTFL1	22510444	615994	Bardet-Biedl syndrome 17	Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479.
ENSG00000187566	NHLRC1	12958597	254780	Epilepsy, progressive myoclonic 2B (Lafora)	Lafora, G. R., Glueck, B. Beitrag zur histpathologie der myoklonischen Epilepsie. Z. Ges. Neurol. Psychiat. 6: 1-14, 1911.
ENSG00000102878	HSF4	12089525	116800	Cataract 5, multiple types	Harman, N. B. Congenital cataract. In: Treasury of Human Inheritance. Vol. 1. Part 4. London: Cambridge Univ. Press 1910. Pp. 126-169.
ENSG00000118402	ELOVL4	11138005	600110	Stargardt disease 3	K. B. Stargardt: ‹ber famili‰re, progressive Degeneration in der Makulagegend des Auges. Albrecht von Graefes Archiv f¸r Ophthalmologie, 1909, 71: 534-550.
ENSG00000164093	PITX2	9437321	137600	Anterior segment dysgenesis 4	Peters, A. Ueber angeborene Defektbildung der Descemetschen Membran. Klin. Monatsbl. Augenheilkd. 44: 27-40 and 105-119, 1906.
ENSG00000165392	WRN	8602509	277700	Werner syndrome 	C. W. O. Werner: ‹ber Katarakt in Verbindung mit Sklerodermie. Doctoral thesis, University of Kiel. Schmidt and Klaunig, Kiel. 1904
ENSG00000188603	CLN3	7553855	204200	Ceroid lipofuscinosis, neuronal, 3	Batten, F. E. Cerebral degeneration with symmetrical changes in the maculae in two members of a family. Trans. Ophthal. Soc. U.K. 23: 386-390, 1903.
ENSG00000090054	SPTLC1	11242114	162400	Neuropathy, hereditary sensory and autonomic, type IA	20764666
ENSG00000095397	WHRN	17171570	611383	Usher syndrome, type 2D	C. H. Usher: On the inheritance of retinitis pigmentosa, with notes of cases. Royal London Ophthalmological Hospital Report, 1914, 19: 130-236. 
ENSG00000163254	CRYGC	10521291	604307	Cataract 2, multiple types	Nettleship, E., Ogilvie, F. M. A peculiar form of hereditary congenital cataract. Trans. Ophthal. Soc. U.K. 26: 191-206, 1906
ENSG00000167995	BEST1	9662395	153700	Macular dystrophy, vitelliform, 2	Best, F. Ueber eine hereditaere Maculaaffektion. Z. Augenheilk. 13: 199-212, 1905.
ENSG00000168477	TNXB	9288108	606408	Ehlers-Danlos syndrome due to tenascin X deficiency 	E. L. Ehlers: Cutis laxa. Neigung zu Haemorrhagien in der Haut, Lockering mehrerer Artikulationen. Dermatologische Zeitschrift, Berlin, 1901, 8: 173-174.
ENSG00000106991	ENG	7894484	187300	Telangiectasia, hereditary hemorrhagic, type 1	Osler, W. On a family form of recurring epistaxis, associated with multiple telangiectases of the skin and mucous membranes. Bull. Johns Hopkins Hosp. 7: 333-337, 1901.
ENSG00000165240	ATP7A	7842019	304150	Occipital horn syndrome 	E. L. Ehlers: Cutis laxa. Neigung zu Haemorrhagien in der Haut, Lockering mehrerer Artikulationen. Dermatologische Zeitschrift, Berlin, 1901, 8: 173-174.
ENSG00000100360	IFT27	24488770	615996	Bardet-Biedl syndrome 19	Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479.
ENSG00000143061	IGSF3	24372406	149700	Lacrimal duct defect	Schnyder, W. F. Ueber familiaeres Vorkommen resp. die Vererbung von Erkrankungen der Traenenwege. Z. Augenheilk. 44: 257-261, 1920.
ENSG00000214413	BBIP1	24026985	615995	Bardet-Biedl syndrome 18	Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479.
ENSG00000119681	LTBP2	20617341	251750	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	Fleischer, B. Abnorme Kleinheit und Kugelgestalt der Linse bei zwei Geschwisterpaaren. Arch. Augenheilkd. 80: 248 only, 1916.
ENSG00000100345	MYH9	12621333	600208	Macrothrombocytopenia and progressive sensorineural deafness 	May, R. Leukozyteneinschlusse. Dtsch. Arch. Klin. Med. 96: 1-6, 1909
ENSG00000113924	HGD	8782815	203500	Alkaptonuria	Garrod, A. E. The incidence of alkaptonuria: a study in chemical individuality. Lancet 160: 1616-1620, 1902. Note: Originally Volume II.
ENSG00000124479	NDP	1307245	310600	Norrie disease	Clarke, E. 'Pseudo-glioma' in both eyes. Trans. Ophthal. Soc. U.K. 18: 136-138, 1898.
ENSG00000197102	DYNC1H1	22459677	158600	Spinal muscular atrophy, lower extremity-predominant 1, AD	Timme, W. Progressive muscular dystrophy as an endocrine disease. Arch. Intern. Med. 19: 79-104, 1917.
ENSG00000105983	LMBR1	19847792	188740	Hypoplastic or aplastic tibia with polydactyly	Werner, P. Ueber einen seltenen Fall von Zwergwuchs. Arch. Gynak. 104: 278-300, 1915.
ENSG00000007372	PAX6	12721955	120200	Coloboma, ocular	Snell, S. Carcinoma of orbit originating in a Meibomian gland. Trans. Ophthal. Soc. U.K. 28: 144-147, 1908.
ENSG00000186790	FOXE3	11159941	610256	Anterior segment dysgenesis 2, multiple subtypes	Peters, A. Ueber angeborene Defektbildung der Descemetschen Membran. Klin. Monatsbl. Augenheilkd. 44: 27-40 and 105-119, 1906.
ENSG00000166147	FBN1	1852208	154700	Marfan syndrome	Marfan, M. A. B. Un cas de deformation congenitale des quatre membres plus prononcee aux extremites, caracterisee par l'allongement des os avec un certain degre d'amincissement. Bull. Mem. Soc. Med. Hop. Paris 13: 220-226, 1896.
ENSG00000096872	IFT74	27486776	617119	Bardet-Biedl syndrome 	Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479.
ENSG00000156172	C8orf37	27008867	617406	Bardet-Biedl syndrome 21	Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479.
ENSG00000164199	ADGRV1	20440071	605472	Usher syndrome, type 2C, GPR98/PDZD7 digenic	C. H. Usher: On the inheritance of retinitis pigmentosa, with notes of cases. Royal London Ophthalmological Hospital Report, 1914, 19: 130-236. 
ENSG00000156466	GDF6	18425797	118100	Klippel-Feil syndrome 1, autosomal dominant	Klippel, M., Feil, A. Un cas d'absence des vertebres cervicales avec cage thoracique remontant jusqu'a la base du crane (cage thoracique cervicale). Nouv. Iconogr. Salpet. 25: 223-250, 1912.
ENSG00000170289	CNGB3	15712225	248200	Macular degeneration, juvenile	Stargardt, K. Ueber familiare, progressive Degeneration in der Makulagegend des Auges. Albrecht von Graefes Arch. Klin. Exp. Ophthal. 71: 534-549, 1909.
ENSG00000068078	FGFR3	7987400	187600	Thanatophoric dysplasia, type I	Maygrier, C. Foetus achondroplasique: presentation de photographies, du moulage, d'une radiographie et du squelette. Bull. Soc. Obstet. Gynec. 1: 248-255, 1898.
ENSG00000198513	ATL1	11685207	182600	Spastic paraplegia 3A, autosomal dominant	Strumpell, A. Die primaere Seitenstrangsklerose (spastische Spinalparalyse). Dtsch. Z. Nervenheilk. 27: 291-339, 1904.
ENSG00000136425	CIB2	23023331	614869	Usher syndrome, type IJ	C. H. Usher: On the inheritance of retinitis pigmentosa, with notes of cases. Royal London Ophthalmological Hospital Report, 1914, 19: 130-236. 
ENSG00000170445	HARS	22279524	614504	Usher syndrome type 3B	C. H. Usher: On the inheritance of retinitis pigmentosa, with notes of cases. Royal London Ophthalmological Hospital Report, 1914, 19: 130-236. 
ENSG00000184344	GDF3	19864492	613702	Klippel-Feil syndrome 3, autosomal dominant	M. Klippel, A. Feil: Un cas d'absence des vertËbres cervicales avec cage thoracique remontant jusquí ‡ la base du cr‚ne (cage thoracique cervicale). Nouvelle iconographie de la SalpÍtriËre, Paris, 1912; 25: 223-250. English translation in Bick, Classics of Orthopaedics, 511-516.
	DISC2	10814723	181500	Schizophrenia	Diefendorf, A. R. Clinical Psychiatry, a Text-Book for Students and Physicians Abstracted and Adapted from the Sixth German Edition of Kraepelin's 'Lehrbuch der Psychiatrie'. New York: Macmillan (pub.) 1902.
ENSG00000183873	SCN5A	10471492	113900	Heart block, nonprogressive	Morquio, L. Sur une maladie infantile et familiale caracterisee par des modifications permanentes du pouls, des attaques syncopales et epileptiformes et la mort subite. Arch. Med. Enfants 4: 467-475, 1901.
ENSG00000183873	SCN5A	10471492	113900	Heart block, progressive, type IA	Morquio, L. Sur une maladie infantile et familiale caracterisee par des modifications permanentes du pouls, des attaques syncopales et epileptiformes et la mort subite. Arch. Med. Enfants 4: 467-475, 1901.
ENSG00000128714	HOXD13	8614804	186000	Synpolydactyly 1	Anderson, W. A case of 'angeio-keratoma.'. Brit. J. Derm. 10: 113-117, 1898.
ENSG00000112210	RAB23	17503333	201000	Carpenter syndrome	19974019
ENSG00000142627	EPHA2	19005574	116600	Cataract 6, multiple types	Nettleship, E. Seven new pedigrees of hereditary cataract. Trans. Ophthal. Soc. U.K. 29: 188-211, 1909
ENSG00000007062	PROM1	18654668	603786	Stargardt disease 4 	K. B. Stargardt: ‹ber famili‰re, progressive Degeneration in der Makulagegend des Auges. Albrecht von Graefes Archiv f¸r Ophthalmologie, 1909, 71: 534-550.
ENSG00000124813	RUNX2	9182765	119600	Cleidocranial dysplasia	Marie, P., Sainton, P. On hereditary cleido-cranial dysostosis. Rev. Neurol. 6: 835 only, 1898.
ENSG00000124813	RUNX2	9182765	119600	Cleidocranial dysplasia, forme fruste, dental anomalies only	Marie, P., Sainton, P. On hereditary cleido-cranial dysostosis. Rev. Neurol. 6: 835 only, 1898.
ENSG00000124813	RUNX2	9182765	119600	Cleidocranial dysplasia, forme fruste, with brachydactyly	Marie, P., Sainton, P. On hereditary cleido-cranial dysostosis. Rev. Neurol. 6: 835 only, 1898.
ENSG00000102104	RS1	9326935	312700	Retinoschisis	Haas, J. Ueber das Zusammenvorkommen von Veranderungen der Retina und Chorioidea. Arch. Augenheilk. 37: 343-348, 1898.
ENSG00000012174	MBTPS2	19361614	308205	IFAP syndrome with or without BRESHECK syndrome 	MacLeod, J. M. H. Three cases of 'ichthyosis follicularis' associated with baldness. Brit. J. Derm. 21: 165-189, 1909.
ENSG00000163501	IHH	12525541	112500	Brachydactyly, type A1	Farabee, W. C. Hereditary and sexual influence in meristic variation: a study of digital malformations in man. Ph.D. Thesis: Harvard Univ. (pub.) 1903.
ENSG00000204983	PRSS1	8841182	167800	Pancreatitis, hereditary	Chiara, H. Ueber Selbstverdauung des menschlichen Pankreas. Ztschr. Heilkunde 17: 70-96, 1896.
ENSG00000102967	DHODH	19915526	263750	Miller syndrome	17759620
ENSG00000005102	MEOX1	23290072	214300	Klippel-Feil syndrome 2 	M. Klippel, A. Feil: Un cas d'absence des vertËbres cervicales avec cage thoracique remontant jusquí ‡ la base du cr‚ne (cage thoracique cervicale). Nouvelle iconographie de la SalpÍtriËre, Paris, 1912; 25: 223-250. English translation in Bick, Classics of Orthopaedics, 511-516.
ENSG00000138829	FBN2	9106527	121050	Contractural arachnodactyly, congenital	Marfan, M. A. B. Un cas de deformation congenitale des quatre membres plus prononcee aux extremites, caracterisee par l'allongement des os avec un certain degre d'amincissement. Bull. Mem. Soc. Med. Hop. Paris 13: 220-226, 1896.
ENSG00000091137	SLC26A4	9398842	274600	Pendred syndrome 	Pendred, V. Deaf-mutism and goitre. Lancet 148: 532 only, 1896. Note: Originally Volume II.
ENSG00000165731	RET	2886917	171400	Multiple endocrine neoplasia IIA	Frankel, F. Ein Fall von doppelseitigem, vollig latent verlaufenen Nebennierentumor und gleichzeitiger Nephritis mit Veranderungen am Circulationsapparat und Retinitis. Arch. Path. Anat. Physiol. Klin. Med. 103: 244-263, 1886
ENSG00000067842	ATP2B3	22912398	302500	Spinocerebellar ataxia, X-linked 1	Brandenberg, F. Kasuistische Beitrage zur gleichgeschlechtlichen Vererbung. Arch. Rass. Ges. Biol. 7: 290-305, 1910.
ENSG00000188158	NHS	19414485	302200	Cataract 40, X-linked	Stieren, E. A study in atavistic descent of congenital cataract through four generations. Ophthal. Rev. 16: 234-238, 1907.
ENSG00000066427	ATXN3	7874163	109150	Machado-Joseph disease	Klippel, M., Durante, G. Contribution a l'etude des affections nerveuses familiales et hereditaires. Rev. Med. 12: 745-786, 1892.
ENSG00000169738	DCXR	22042873	260800	Pentosuria	Garrod, A. E. The Croonian lectures on inborn errors of metabolism. Lecture IV. Lancet 172: 214-220, 1908. Note: Originally Volume II.
ENSG00000170484	KRT74	20346438	194300	Woolly hair, autosomal dominant	Gossage, A. M. The inheritance of certain human abnormalities. Quart. J. Med. 1: 331-347, 1907.
ENSG00000126233	SLURP1	11285253	248300	Meleda disease	Neumann, (NI). Ueber das Keratoma hereditarium. Arch. Derm. Syph. 42: 163-174, 1898.
ENSG00000198836	OPA1	11017080	165500	Optic atrophy 1 	Snell, S. Diseases of the optic nerve. I. Hereditary or congenital optic atrophy and allied cases. Trans. Ophthal. Soc. U.K. 17: 66-81, 1897.
ENSG00000198836	OPA1	11017079	165500	Optic atrophy 1 	Snell, S. Diseases of the optic nerve. I. Hereditary or congenital optic atrophy and allied cases. Trans. Ophthal. Soc. U.K. 17: 66-81, 1897.
ENSG00000164266	SPINK1	10835640	167800	Pancreatitis, hereditary	Chiara, H. Ueber Selbstverdauung des menschlichen Pankreas. Ztschr. Heilkunde 17: 70-96, 1896.
ENSG00000124788	ATXN1	7951322	164400	Spinocerebellar ataxia 1	Menzel, P. Beitrag zur Kenntniss der hereditaeren Ataxie und Kleinhirnatrophie. Arch. Psychiat. Nervenkr. 22: 160-190, 1890.
ENSG00000170442	KRT86	25557232	158000	Monilethrix	Cranston Low, R. Pathology and etiology of monilethrix. J. Pathol. Bact. 14: 230-239, 1910.
ENSG00000205426	KRT81	25557232	158000	Monilethrix	Cranston Low, R. Pathology and etiology of monilethrix. J. Pathol. Bact. 14: 230-239, 1910.
ENSG00000198836	OPA1	25012220	210000	Behr syndrome 	Behr, C. Die komplizierte, hereditaer-familiaere Optikusatrophie des Kindesalters: ein bisher nicht beschriebener Symptomenkomplex. Klin. Monatsbl. Augenheilkd. 47: 138-160, 1909.
ENSG00000012174	MBTPS2	20672378	308800	Keratosis follicularis spinulosa decalvans, X-linked	Lameris, H. J. Ichthyosis follicularia. Ned. Tijdschr. Geneeskd. 2: 1524, 1905.
ENSG00000160213	CSTB	8596935	254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)	Unverricht, H. Die Myoclonie. Berlin: Franz Deuticke (pub.) 1891.
ENSG00000142168	SOD1	8446170	105400	Amyotrophic lateral sclerosis 1	Hammond, W. A. A Treatise on the Diseases of the Nervous System. (7th ed.) Philadelphia: Blakiston, Son, & Co. (pub.) 1888. P. 351.
ENSG00000177628	GBA	2880291	230900	Gaucher disease, type II	Gaucher, P. C. E. De l'epithelioma primitif de la rate, hypertrophie idiopathique de la rate sans leucemie. Thesis, Faculte-de Medicine: Paris 1882.
ENSG00000007372	PAX6	12721955	165550	Optic nerve hypoplasia 	Snell, S. Diseases of the optic nerve. I. Hereditary or congenital optic atrophy and allied cases. Trans. Ophthal. Soc. U.K. 17: 66-81, 1897.
ENSG00000037280	FLT4	9817924	153100	Lymphedema, hereditary, IA	Milroy, W. F. An undescribed variety of hereditary oedema. N.Y. Med. J. 56: 505-508, 1892.
ENSG00000109099	PMP22	1303281	118220	Charcot-Marie-Tooth disease, type 1A	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000007314	SCN4A	1316765	168300	Paramyotonia congenita 	Eulenburg, A. Ueber eine familiare, durch 6 generationen verfolgbare Form congenitaler Paramyotonie. Neurologisches Centralblatt 12: 265-272, 1886.
ENSG00000177628	GBA	3353383	230800	Gaucher disease, type I	Gaucher, P. C. E. De l'epithelioma primitif de la rate, hypertrophie idiopathique de la rate sans leucemie. Thesis, Faculte-de Medicine: Paris 1882.
ENSG00000120708	TGFBI	9054935	121900	Corneal dystrophy, Groenouw type I	Groenouw, A. Knoetchenfoermige Hornhauttruebungen (Noduli corneae). Arch. Augenheilk. 21: 281-289, 1890.
ENSG00000158887	MPZ	7693129	118200	Charcot-Marie-Tooth disease, type 1B	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000169562	GJB1	8266101	302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000213614	HEXA	2848800	272800	GM2-gangliosidosis, several forms	W. Tay: Symmetrical changes in the region of the yellow spot in each eye of an infant. Transactions of the Ophthalmological Societies of the United Kingdom, 1881-1882, 1: 55.
ENSG00000213614	HEXA	2848800	272800	Hex A pseudodeficiency	W. Tay: Symmetrical changes in the region of the yellow spot in each eye of an infant. Transactions of the Ophthalmological Societies of the United Kingdom, 1881-1882, 1: 55.
ENSG00000213614	HEXA	2848800	272800	Tay-Sachs disease 	W. Tay: Symmetrical changes in the region of the yellow spot in each eye of an infant. Transactions of the Ophthalmological Societies of the United Kingdom, 1881-1882, 1: 55.
ENSG00000100345	MYH9	11023810	603622	Deafness, autosomal dominant 17	Scheibe, A. A case of deaf-mutism, with auditory atrophy and anomalies of development in the membranous labyrinth of both ears. Arch. Otolaryng. 21: 12-22, 1892.
ENSG00000165731	RET	8825918	171300	Pheochromocytoma	Frankel, F. Ein Fall von doppelseitigem, vollig latent verlaufenen Nebennierentumor und gleichzeitiger Nephritis mit Veranderungen am Circulationsapparat und Retinitis. Arch. Path. Anat. Physiol. Klin. Med. 103: 244-263, 1886.
ENSG00000134086	VHL	8592333	171300	Pheochromocytoma	Frankel, F. Ein Fall von doppelseitigem, vollig latent verlaufenen Nebennierentumor und gleichzeitiger Nephritis mit Veranderungen am Circulationsapparat und Retinitis. Arch. Path. Anat. Physiol. Klin. Med. 103: 244-263, 1886.
ENSG00000197746	PSAP	2060627	610539	Gaucher disease, atypical, due to saposin C deficiency 	Gaucher, P. C. E. De l'epithelioma primitif de la rate, hypertrophie idiopathique de la rate sans leucemie. Thesis, Faculte-de Medicine: Paris 1882.
ENSG00000133019	CHRM3	22077972	100100	Prune belly syndrome	Osler, W. Congenital absence of the abdominal muscles with distended and hypertrophied urinary bladder. Bull. Johns Hopkins Hosp. 12: 331-333, 1901.
ENSG00000083799	CYLD	12190880	605041	Brooke-Spiegler syndrome, 	Brooke, H. G. Epithelioma adenoides cysticum. Brit. J. Derm. 4: 269-287, 1892
ENSG00000001626	CFTR	17489851	167800	Pancreatitis, idiopathic	Chiara, H. Ueber Selbstverdauung des menschlichen Pankreas. Ztschr. Heilkunde 17: 70-96, 1896.
ENSG00000083799	CYLD	14632188	601606	Trichoepithelioma, multiple familial, 1	Brooke, H. G. Epithelioma adenoides cysticum. Brit. J. Derm. 4: 269-287, 1892.
ENSG00000177628	GBA	8244344	231000	Gaucher disease, type III	Gaucher, P. C. E. De l'epithelioma primitif de la rate, hypertrophie idiopathique de la rate sans leucemie. Thesis, Faculte-de Medicine: Paris 1882.
ENSG00000116001	TIA1	23401021	604454	Welander distal myopathy	20760370
ENSG00000183770	FOXL2	11175783	110100	Blepharophimosis, epicanthus inversus, and ptosis, type 1	Vignes, (NI). Epicanthus hereditaire. Rev. Gen. Ophthal. 8: 438, 1889.
ENSG00000183770	FOXL2	11175783	110100	Blepharophimosis, epicanthus inversus, and ptosis, type 2	Vignes, (NI). Epicanthus hereditaire. Rev. Gen. Ophthal. 8: 438, 1889.
ENSG00000158887	MPZ	9595994	607677	Charcot-Marie-Tooth disease, type 2I	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000122877	EGR2	9537424	607678	Charcot-Marie-Tooth disease, type 1D	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000141756	FKBP10	20696291	259450	Bruck syndrome 1	Bruck, A. Ueber eine seltene Form von Erkrankung der Knochen und Gelenke. Dtsch. Med. Wschr. 23: 152-155, 1897.
ENSG00000109099	PMP22	10330345	118300	Charcot-Marie-Tooth disease, type 1E	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000158887	MPZ	10071056	607736	Charcot-Marie-Tooth disease, type 2J	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000158887	MPZ	10406984	607791	Charcot-Marie-Tooth disease, dominant intermediate D	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000177628	GBA	8544197	231005	Gaucher disease, type IIIC	Gaucher, P. C. E. De l'epithelioma primitif de la rate, hypertrophie idiopathique de la rate sans leucemie. Thesis, Faculte-de Medicine: Paris 1882.
ENSG00000204370	SDHD	11156372	171300	Pheochromocytoma	Frankel, F. Ein Fall von doppelseitigem, vollig latent verlaufenen Nebennierentumor und gleichzeitiger Nephritis mit Veranderungen am Circulationsapparat und Retinitis. Arch. Path. Anat. Physiol. Klin. Med. 103: 244-263, 1886.
ENSG00000087053	MTMR2	10802647	601382	Charcot-Marie-Tooth disease, type 4B1	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000104419	NDRG1	10831399	601455	Charcot-Marie-Tooth disease, type 4D	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000277586	NEFL	10841809	607684	Charcot-Marie-Tooth disease, type 2E	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000177628	GBA	8929950	608013	Gaucher disease, perinatal lethal	Gaucher, P. C. E. De l'epithelioma primitif de la rate, hypertrophie idiopathique de la rate sans leucemie. Thesis, Faculte-de Medicine: Paris 1882.
ENSG00000171403	KRT9	7512862	144200	Palmoplantar keratoderma, epidermolytic	Thost, A. Ueber erbliche Ichthyosis palmaris et plantaris cornea. Dissertation: Heidelberg (pub.) 1880.
ENSG00000167768	KRT1	7528239	600962	Palmoplantar keratoderma, nonepidermolytic 	Thost, A. Ueber erbliche Ichthyosis palmaris et plantaris cornea. Dissertation: Heidelberg (pub.) 1880.
ENSG00000172817	CYP7B1	18252231	270800	Spastic paraplegia 5A, autosomal recessive	Freud, S. Ueber familiaere Formen von cerebralen Diplegien. Neurol. Centrabl. (Mendel) 12: 512-515 and 542-547, 1893.
ENSG00000054523	KIF1B	11389829	118210	Charcot-Marie-Tooth disease, type 2A1	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000105227	PRX	11157804	614895	Charcot-Marie-Tooth disease, type 4F	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000101200	AVP	10369876	125700	Diabetes insipidus, neurohypophyseal	Weil, A. Ueber die hereditaere Form des Diabetes insipidus. Virchows Arch. Path. Anat. 95: 70-95, 1884.
ENSG00000101276	SLC52A3	20206331	211530	Brown-Vialetto-Van Laere syndrome 1	Brown, C. H. Infantile amyotrophic lateral sclerosis of the family type. J. Nerv. Ment. Dis. 21: 707-716, 1894.
ENSG00000104381	GDAP1	11743579	214400	Charcot-Marie-Tooth disease, type 4A	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000160789	LMNA	11799477	605588	Charcot-Marie-Tooth disease, type 2B1	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000104381	GDAP1	11743580	607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000104381	GDAP1	12499475	608340	Charcot-Marie-Tooth disease, recessive intermediate, A	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000136936	XPA	2234061	278700	Xeroderma pigmentosum, group A	Hebra, F., Kaposi, M. On Diseases of the Skin, Including Exanthemata. Vol. 3. London: New Sydenham Society (pub.) 1874. Pp. 252-258.
ENSG00000101276	SLC52A3	21110228	211500	Fazio-Londe disease 	Londe, P. Paralysie bulbaire progressive, infantile et familiale. Rev. Med. 14: 212-254, 1894.
ENSG00000111199	TRPV4	19232556	156530	Metatropic dysplasia	Kaufmann, E. Untersuchungen ueber die sogenannte foetale Rachitis. (Chondrodystrophia foetalis). Berlin: Georg Reimer (pub.) 1892.
ENSG00000100311	PDGFB	17478383	607907	Dermatofibrosarcoma protuberans 	Taylor, R. W. Sarcomatous tumors resembling in some respects keloids. Arch. Derm. 8: 384-387, 1890.
ENSG00000116688	MFN2	16437557	601152	Hereditary motor and sensory neuropathy VIA	Vizioli, F. Dell' atrofia muscolare progressiva nevrotica. Boll. Accad. Med.-Chir. Napoli No Vol.: 173-183, 1889.
ENSG00000160789	LMNA	12714972	176670	Hutchinson-Gilford progeria	Hutchinson, J. Case of congenital absence of hair, with atrophic condition of the skin and its appendages, in a boy whose mother had been almost wholly bald from alopecia areata from the age of six. Lancet I: 923 only, 1886.
ENSG00000075785	RAB7A	12545426	600882	Charcot-Marie-Tooth disease, type 2B	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000189067	LITAF	12525712	601098	Charcot-Marie-Tooth disease, type 1C	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000106105	GARS	12690580	601472	Charcot-Marie-Tooth disease, type 2D	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000169247	SH3TC2	14574644	601596	Charcot-Marie-Tooth disease, type 4C	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000133812	SBF2	12554688	604563	Charcot-Marie-Tooth disease, type 4B2	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000104381	GDAP1	12707075	607831	Charcot-Marie-Tooth disease, axonal, type 2K	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000188037	CLCN1	7981750	160800	Myotonia congenita, dominant	Thomsen, J. Tonische Kraempfe in willkuerlich beweglichen Muskeln in Folge von ererbter psychischer Disposition: Ataxia muscularis? Arch. Psychiat. Nervenkr. 6: 702-718, 1876
ENSG00000049540	ELN	16085695	123700	Cutis laxa, AD	Kopp, W. Demonstration zweier Faelle von 'cutis laxa'. Muench. Med. Wschr. 35: 259 only, 1888.
ENSG00000128710	HOXD10	15146389	192950	Charcot-Marie-Tooth disease, foot deformity of	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000106211	HSPB1	15122254	606595	Charcot-Marie-Tooth disease, axonal, type 2F	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000116688	MFN2	15064763	609260	Charcot-Marie-Tooth disease, axonal, type 2A2A	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000138030	KHK	7833921	229800	Fructosuria	Czapek, F. Eine seltene Form von Diabetes mellitus. Prager Med. Wochenschr. 1: 245-249, 1876.
ENSG00000184640	SEPT9	16186812	162100	Amyotrophy, hereditary neuralgic	Dreschfeld, J. On some rarer forms of muscular atrophies. Brain 79: 226-232, 1886.
ENSG00000079805	DNM2	15731758	606482	Charcot-Marie-Tooth disease, dominant intermediate B	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000152137	HSPB8	15565283	608673	Charcot-Marie-Tooth disease, axonal, type 2L	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000091262	ABCC6	10835643	264800	Pseudoxanthoma elasticum 	Rigal, (NI). Observation pour servir a l'histoire de la cheloide diffuse xanthelasmique. Ann. Derm. Syph. 21: 491-501, 1881.
ENSG00000091262	ABCC6	10835642	264800	Pseudoxanthoma elasticum 	Rigal, (NI). Observation pour servir a l'histoire de la cheloide diffuse xanthelasmique. Ann. Derm. Syph. 21: 491-501, 1881.
ENSG00000091262	ABCC6	10811882	264800	Pseudoxanthoma elasticum 	Rigal, (NI). Observation pour servir a l'histoire de la cheloide diffuse xanthelasmique. Ann. Derm. Syph. 21: 491-501, 1881.
ENSG00000198947	DMD	3319190	310200	Duchenne muscular dystrophy	G. B. Duchenne: Recherches sur la paralysie musculaire pseudo-hypertrophique, ou paralysie myo-sclÈrosique. Archives gÈnÈrales de mÈdecine, Paris, 6 sÈr, 1868, 11: 5-25, 179-209, 305-321, 421-443, 552-588.
ENSG00000213689	TREX1	17357087	610448	Chilblain lupus 	20752149
ENSG00000128710	HOXD10	16450407	192950	Vertical talus, congenital	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000134684	YARS	16429158	608323	Charcot-Marie-Tooth disease, dominant intermediate C	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000178235	SLITRK1	16224024	137580	Tourette syndrome	de la Tourette, G. Etude sur une affection nerveuse, characterisee par l'incoordination motrice accompagnee de l'echolalie et de coprolalie. Arch. Neurol. 9: 158-200, 1885.
ENSG00000147224	PRPS1	17701900	311070	Charcot-Marie-Tooth disease, X-linked recessive, 5	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000139132	FGD4	17564972	609311	Charcot-Marie-Tooth disease, type 4H	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000139132	FGD4	17564959	609311	Charcot-Marie-Tooth disease, type 4H	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000112367	FIG4	17572665	611228	Charcot-Marie-Tooth disease, type 4J	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000167768	KRT1	11286630	144200	Palmoplantar keratoderma, epidermolytic	Thost, A. Ueber erbliche Ichthyosis palmaris et plantaris cornea. Dissertation: Heidelberg (pub.) 1880.
ENSG00000197386	HTT	8458085	143100	Huntington disease	Huntington, G. On chorea. Med. Surg. Reporter 26: 317-321, 1872.
ENSG00000054523	KIF1B	18334619	171300	Pheochromocytoma	Frankel, F. Ein Fall von doppelseitigem, vollig latent verlaufenen Nebennierentumor und gleichzeitiger Nephritis mit Veranderungen am Circulationsapparat und Retinitis. Arch. Path. Anat. Physiol. Klin. Med. 103: 244-263, 1886.
ENSG00000079805	DNM2	18560793	606482	Charcot-Marie-Tooth disease, axonal, type 2M	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000116688	MFN2	18458227	617087	Charcot-Marie-Tooth disease, axonal, type 2A2B	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000112619	PRPH2	1749427	608133	Leber congenital amaurosis 18	T. Leber: ‹ber Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv f¸r Ophthalmologie, Berlin, 1869, 15, 3: 1-25. 
ENSG00000112619	PRPH2	1749427	608133	Retinitis pigmentosa 7 and digenic	T. Leber: ‹ber Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv f¸r Ophthalmologie, Berlin, 1869, 15, 3: 1-25. 
ENSG00000104973	MED25	19290556	605589	Charcot-Marie-Tooth disease, type 2B2	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000141655	TNFRSF11A	10615125	602080	Paget disease of bone 2, early-onset	J. Paget: On a form of chronic inflammation of bones (osteitis deformans). Medico-Chirurgical Transactions, London, 1877, 60: 37-63. 
ENSG00000065427	KARS	20920668	613641	Charcot-Marie-Tooth disease, recessive intermediate, B	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000148356	LRSAM1	20865121	614436	Charcot-Marie-Toothe disease, axonal, type 2P	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000117118	SDHB	20503330	171300	Pheochromocytoma	Frankel, F. Ein Fall von doppelseitigem, vollig latent verlaufenen Nebennierentumor und gleichzeitiger Nephritis mit Veranderungen am Circulationsapparat und Retinitis. Arch. Path. Anat. Physiol. Klin. Med. 103: 244-263, 1886.
ENSG00000090861	AARS	20045102	613287	Charcot-Marie-Tooth disease, axonal, type 2N	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000139116	KIF21A	14595441	135700	Fibrosis of extraocular muscles, congenital, 1	Heuck, G. Ueber angeborenen vererbten Beweglichkeitsdefekts der Augen. Klin. Monatsbl. Augenheilkd. 17: 253 only, 1879.
ENSG00000115380	EFEMP1	10369267	126600	Doyne honeycomb degeneration of retina	Hutchinson, J., Tay, W. Symmetrical central choroidoretinal disease occurring in senile persons. R. London Ophthal. Hosp. Rep. 8: 231-244, 1875.
ENSG00000203485	INF2	22187985	614455	Charcot-Marie-Tooth disease, dominant intermediate E	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000197102	DYNC1H1	21820100	614228	Charcot-Marie-Tooth disease, axonal, type 20	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000139116	KIF21A	15223798	135700	Fibrosis of extraocular muscles, congenital, 3B	Heuck, G. Ueber angeborenen vererbten Beweglichkeitsdefekts der Augen. Klin. Monatsbl. Augenheilkd. 17: 253 only, 1879.
ENSG00000149489	ROM1	8202715	608133	Retinitis pigmentosa 7, digenic	T. Leber: ‹ber Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv f¸r Ophthalmologie, Berlin, 1869, 15, 3: 1-25. 
ENSG00000161011	SQSTM1	11992264	167250	Paget disease of bone 3	20896492
ENSG00000181192	DHTKD1	23141294	615025	Charcot-Marie-Tooth disease, axonal, type 2Q	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000169432	SCN9A	14985375	133020	Erythermalgia, primary	Mitchell, S. W. On a rare vaso-motor neurosis of the extremities, and on the maladies with which it may be confounded. Am. J. Med. Sci. 76: 2-36, 1878
ENSG00000169432	SCN9A	14985375	133020	Small fiber neuropathy	Mitchell, S. W. On a rare vaso-motor neurosis of the extremities, and on the maladies with which it may be confounded. Am. J. Med. Sci. 76: 2-36, 1878
ENSG00000148290	SURF1	24027061	616684	Charcot-Marie-Tooth disease, type 4K	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000171680	PLEKHG5	23777631	615376	Charcot-Marie-Tooth disease, recessive intermediate C	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000166986	MARS	23729695	616280	Charcot-Marie-Tooth disease, axonal, type 2U	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000109654	TRIM2	23562820	615490	Charcot-Marie-Tooth disease, type 2R	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000114450	GNB4	23434117	615185	Charcot-Marie-Tooth disease, dominant intermediate F	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000067992	PDK3	23297365	300905	Charcot-Marie-Tooth disease, X-linked dominant, 6	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000170445	HARS	22930593	616625	Charcot-Marie-Tooth disease, axonal, type 2W	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000132518	GUCY2D	8944027	204000	Leber congenital amaurosis 1 	Leber, T. Ueber Retinitis pigmentosa und angeborene Amaurose. Albrecht von Graefes Arch. Ophthal. 15: 1-25, 1869.
ENSG00000132740	IGHMBP2	25439726	616155	Charcot-Marie-Tooth disease, axonal, type 2S	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000111775	COX6A1	25152455	616039	Charcot-Marie-Tooth disease, recessive intermediate D	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000165280	VCP	25125609	616687	Charcot-Marie-Tooth disease, type 2Y	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000166147	FBN1	15054843	129600	Ectopia lentis, familial	Horner, J. F. Die Erblichkeit des Daltonismus. In, Amtlicher Bericht ueber die Verwaltung des Medizinalwesens des Kantons Zurich vom Jahr 1876. Zurich: Druck der Genossenschaftsbuchdruckerei 1876. Pp. 208-211.
ENSG00000116745	RPE65	9326927	204100	Leber congenital amaurosis 2	Leber, T. Ueber Retinitis pigmentosa und angeborene Amaurose. Albrecht von Graefes Arch. Ophthal. 15: 1-25, 1869.
ENSG00000108784	NAGLU	25818867	616491	Charcot-Marie-Tooth disease, axonal, type 2V	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000103546	SLC6A2	10684912	604715	Orthostatic intolerance	Da Costa, J. M. On irritable heart: a clinical study of a form of functional cardiac disorder and its consequences. Am. J. Med. Sci. 61: 17 only, 1871.
ENSG00000105392	CRX	9537410	613829	Leber congenital amaurosis 7	T. Leber: ‹ber Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv f¸r Ophthalmologie, Berlin, 1869, 15, 3: 1-25. 
ENSG00000100285	NEFH	27040688	616924	Charcot-Marie-Tooth disease, axonal, type 2CC	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000196549	MME	26991897	617017	Charcot-Marie-Tooth disease, axonal, type 2T	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000104133	SPG11	26556829	616668	Charcot-Marie-Tooth disease, axonal, type 2X	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000133422	MORC2	26497905	616688	Charcot-Marie-Tooth disease, axonal, type 2Z	Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886
ENSG00000163297	ANTXR2	14508707	228600	Hyaline fibromatosis syndrome	Murray, J. On three peculiar cases of molluscum fibrosum in one family. Med. Chir. Trans. London 56: 235-238, 1873.
ENSG00000163297	ANTXR2	12973667	228600	Hyaline fibromatosis syndrome	Murray, J. On three peculiar cases of molluscum fibrosum in one family. Med. Chir. Trans. London 56: 235-238, 1873.
ENSG00000126895	AVPR2	1356229	304800	Diabetes insipidus, nephrogenic	Trousseau, A. Polydipsia. Lecture LXV.In: Clinique Medicale de L'Hotel-Dieu de Paris. Vol. 2. Paris: J.-B. Balliere 1862. P. 607.
ENSG00000126895	AVPR2	1303271	304800	Diabetes insipidus, nephrogenic	Trousseau, A. Polydipsia. Lecture LXV.In: Clinique Medicale de L'Hotel-Dieu de Paris. Vol. 2. Paris: J.-B. Balliere 1862. P. 607.
ENSG00000129221	AIPL1	10873396	604393	Leber congenital amaurosis 4	T. Leber: ‹ber Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv f¸r Ophthalmologie, Berlin, 1869, 15, 3: 1-25. 
ENSG00000129221	AIPL1	10873396	604393	Retinitis pigmentosa, juvenile	T. Leber: ‹ber Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv f¸r Ophthalmologie, Berlin, 1869, 15, 3: 1-25. 
ENSG00000129221	AIPL1	10615133	604393	Cone-rod dystrophy	T. Leber: ‹ber Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv f¸r Ophthalmologie, Berlin, 1869, 15, 3: 1-25. 
ENSG00000160957	RECQL4	10319867	268400	Rothmund-Thomson syndrome 	Rothmund, A. Ueber Cataracte in Verbindung mit einer eigenthuemlichen Hautdegeneration. Albrecht von Graefes Arch. Klin. Exp. Ophthal. 14: 159-182, 1868.
ENSG00000010704	HFE	8696333	235200	Hemochromatosis	Trousseau, A. Clinique Medicale de l'Hotel de Paris. Vol. II. Paris: J.-B. Balliere (pub.) 1865. Pp. 663-698.
ENSG00000121207	LRAT	11381255	613341	Retinal dystrophy, early-onset severe	T. Leber: ‹ber Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv f¸r Ophthalmologie, Berlin, 1869, 15, 3: 1-25. 
ENSG00000092200	RPGRIP1	11283794	613826	Leber congenital amaurosis 6 	T. Leber: ‹ber Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv f¸r Ophthalmologie, Berlin, 1869, 15, 3: 1-25. 
ENSG00000134376	CRB1	11231775	613835	Leber congenital amaurosis 8 	T. Leber: ‹ber Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv f¸r Ophthalmologie, Berlin, 1869, 15, 3: 1-25. 
ENSG00000139988	RDH12	15258582	612712	Leber congenital amaurosis 13	T. Leber: ‹ber Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv f¸r Ophthalmologie, Berlin, 1869, 15, 3: 1-25. 
ENSG00000112041	TULP1	15024725	613843	Leber congenital amaurosis 15	T. Leber: ‹ber Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv f¸r Ophthalmologie, Berlin, 1869, 15, 3: 1-25. 
ENSG00000165474	GJB2	9139825	220290	Deafness, autosomal recessive 1A	Boudin, M. De la necessite des croisements et du danger des unions consanguine dans l'espece humaine et parmi les animaux. Rec. Med. Chir. Pharm. Milit. 7: 193-197, 1862.
ENSG00000198570	RD3	17186464	610612	Leber congenital amaurosis 12	T. Leber: ‹ber Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv f¸r Ophthalmologie, Berlin, 1869, 15, 3: 1-25. 
ENSG00000198707	CEP290	16909394	611755	Leber congenital amaurosis 10	T. Leber: ‹ber Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv f¸r Ophthalmologie, Berlin, 1869, 15, 3: 1-25. 
ENSG00000121207	LRAT	17011878	613341	Leber congenital amaurosis 14	T. Leber: ‹ber Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv f¸r Ophthalmologie, Berlin, 1869, 15, 3: 1-25. 
ENSG00000106348	IMPDH1	16384941	613837	Leber congenital amaurosis 11	T. Leber: ‹ber Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv f¸r Ophthalmologie, Berlin, 1869, 15, 3: 1-25. 
ENSG00000135338	LCA5	17546029	604537	Leber congenital amaurosis 5 	T. Leber: ‹ber Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv f¸r Ophthalmologie, Berlin, 1869, 15, 3: 1-25. 
ENSG00000121207	LRAT	18055821	613341	Retinitis pigmentosa, juvenile	T. Leber: ‹ber Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv f¸r Ophthalmologie, Berlin, 1869, 15, 3: 1-25. 
ENSG00000042317	SPATA7	19268277	604232	Leber congenital amaurosis 3 	T. Leber: ‹ber Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv f¸r Ophthalmologie, Berlin, 1869, 15, 3: 1-25. 
ENSG00000042317	SPATA7	19268277	604232	Retinitis pigmentosa, juvenile, autosomal recessive	T. Leber: ‹ber Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv f¸r Ophthalmologie, Berlin, 1869, 15, 3: 1-25. 
ENSG00000138039	LHCGR	7692306	176410	Precocious puberty, male	Stone, R. K. Extraordinary precocity in the development of the male sexual organs and muscular system in a child four years old. Am. J. Med. Sci. 24: 561-564, 1852.
ENSG00000115474	KCNJ13	21763485	614186	Leber congenital amaurosis 	T. Leber: ‹ber Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv f¸r Ophthalmologie, Berlin, 1869, 15, 3: 1-25. 
ENSG00000173614	NMNAT1	22842230	608553	Leber congenital amaurosis 9 	T. Leber: ‹ber Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv f¸r Ophthalmologie, Berlin, 1869, 15, 3: 1-25. 
ENSG00000169071	ROR2	10700182	113000	Brachydactyly, type B1	MacKinder, D. Deficiency of fingers transmitted through six generations. Brit. Med. J. 1: 845-846, 1857.
ENSG00000156466	GDF6	23307924	615360	Leber congenital amaurosis 17	T. Leber: ‹ber Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv f¸r Ophthalmologie, Berlin, 1869, 15, 3: 1-25. 
ENSG00000032444	PNPLA6	25480986	245800	Laurence-Moon syndrome	Laurence, J. Z., Moon, R. C. Four cases of retinitis pigmentosa occurring in the same family and accompanied by general imperfection of development. Ophthal. Rev. 2: 32-41, 1866.
ENSG00000122194	PLG	9242524	217090	Dysplasminogenemia	Bouisson, M. Ophthalmie sur-aigue avec formation de pseudomembranes a la surface de la conjonctive. Ann. Ocul. (Paris) 17: 100-104, 1847.
ENSG00000122194	PLG	9242524	217090	Plasminogen deficiency, type I	Bouisson, M. Ophthalmie sur-aigue avec formation de pseudomembranes a la surface de la conjonctive. Ann. Ocul. (Paris) 17: 100-104, 1847.
ENSG00000188937	NYX	8434607	310500	Night blindness, congenital stationary (complete), 1A, X-linked	Cunier, F. Histoire d'une hemeralopie hereditaire depuis deux siecles dans une famille de la commune de Vendemian pres de Montpelier. Ann. Soc. Med. Gand. 4: 385-395, 1838.
ENSG00000147224	PRPS1	20021999	304500	Deafness, X-linked 1	Wilde, W. R. Practical Observations on Aural Surgery and the Nature and Diagnosis of Diseases of the Ear. London: Churchill (pub.) 1853.
ENSG00000114349	GNAT1	8673138	610444	Night blindness, congenital stationary, autosomal dominant 3	Cunier, F. Histoire d'une hemeralopie hereditaire de puis deux siecles dans une famille de al commune de Vendemian pres Montpellier. Ann. Soc. Med. Gand. 4: 385-395, 1838. Note: Alternate: Ann. Ocul. (Paris) 1: 32-34, 1838 (synopsis).
ENSG00000083799	CYLD	10835629	132700	Cylindromatosis, familial, 13	20895749
ENSG00000168575	SLC20A2	22327515	213600	Basal ganglia calcification, idiopathic, 1	Delacour, A. Ossification des capillaires du cerveau. Ann. Med. Psychol. 2: 458-461, 1850.
ENSG00000118197	DDX59	23972372	174300	Orofaciodigital syndrome V	Roux, (NI). Bec-de-lievre unilateral. Gaz. Hop. (2nd series) 9: 274 only, 1847.
ENSG00000186575	NF2	8379998	101000	Neurofibromatosis, type 2	Wishart, J. H. Case of tumours in the skull, dura mater, and brain. Edinburgh Med. Surg. J. 18: 393-397, 1822.
ENSG00000145335	SNCA	9197268	168601	Parkinson disease 1 	Parkinson, J. 
ENSG00000185345	PRKN	9560156	600116	Parkinson disease, juvenile, type 2	Parkinson, J. 
ENSG00000011143	MKS1	16415886	249000	Meckel syndrome 1	Meckel, J. F. Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Dtsch. Arch. Physiol. 7: 99-172, 1822.
ENSG00000164953	TMEM67	16415887	607361	Meckel syndrome 3 	Meckel, J. F. Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Dtsch. Arch. Physiol. 7: 99-172, 1822.
ENSG00000198707	CEP290	17564974	611134	Meckel syndrome 4 	Meckel, J. F. Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Dtsch. Arch. Physiol. 7: 99-172, 1822.
ENSG00000103494	RPGRIP1L	17558409	611561	Meckel syndrome 5	Meckel, J. F. Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Dtsch. Arch. Physiol. 7: 99-172, 1822.
ENSG00000113971	NPHP3	18371931	267010	Meckel syndrome 7	Meckel, J. F. Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Dtsch. Arch. Physiol. 7: 99-172, 1822.
ENSG00000048342	CC2D2A	18513680	612284	Meckel syndrome 6 	Meckel, J. F. Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Dtsch. Arch. Physiol. 7: 99-172, 1822.
ENSG00000145335	SNCA	14593171	605543	Parkinson disease 4 	Parkinson, J. 
ENSG00000116288	PARK7	12446870	606324	Parkinson disease 7, autosomal recessive early-onset	Parkinson, J. 
ENSG00000158828	PINK1	15087508	605909	Parkinson disease 6, early onset	Parkinson, J. 
ENSG00000188906	LRRK2	15541308	607060	Parkinson disease 8 	Parkinson, J. 
ENSG00000187049	TMEM216	20512146	603194	Meckel syndrome 2 	Meckel, J. F. Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Dtsch. Arch. Physiol. 7: 99-172, 1822.
ENSG00000115317	HTRA2	15961413	610297	Parkinson disease 13	Parkinson, J. 
ENSG00000123810	B9D2	21763481	614175	Meckel syndrome 10	Meckel, J. F. Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Dtsch. Arch. Physiol. 7: 99-172, 1822.
ENSG00000168778	TCTN2	21462283	613885	Meckel syndrome 8	Meckel, J. F. Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Dtsch. Arch. Physiol. 7: 99-172, 1822.
ENSG00000205084	TMEM231	23349226	615397	Meckel syndrome 11 	Meckel, J. F. Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Dtsch. Arch. Physiol. 7: 99-172, 1822.
ENSG00000100225	FBXO7	18513678	260300	Parkinson disease 15, autosomal recessive	Parkinson, J. 
ENSG00000204120	GIGYF2	18358451	607688	Parkinson disease 11	Parkinson, J. 
ENSG00000108641	B9D1	24886560	617120	Meckel syndrome 9	Meckel, J. F. Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Dtsch. Arch. Physiol. 7: 99-172, 1822.
ENSG00000118193	KIF14	24128419	616258	Meckel syndrome 12	Meckel, J. F. Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Dtsch. Arch. Physiol. 7: 99-172, 1822.
ENSG00000184381	PLA2G6	18570303	612953	Parkinson disease 14, autosomal recessive	Parkinson, J. 
ENSG00000114867	EIF4G1	21907011	614251	Parkinson disease 18	Parkinson, J. 
ENSG00000069329	VPS35	21763482	614203	Parkinson disease 17 	Parkinson, J. 
ENSG00000116675	DNAJC6	22563501	615528	Parkinson disease 19a, juvenile-onset	Parkinson, J. 
ENSG00000159082	SYNJ1	23804577	615530	Parkinson disease  20	Parkinson, J. 
ENSG00000159082	SYNJ1	23804563	615530	Parkinson disease  20	Parkinson, J. 
ENSG00000182220	ATP6AP2	23595882	300911	Parkinsonism with spasticity, X-linked	Parkinson, J. 
ENSG00000106153	CHCHD2	25662902	616710	Parkinson disease 22, autosomal dominant	Parkinson, J. 
ENSG00000129003	VPS13C	26942284	616840	Parkinson disease 23, autosomal recessive, early onset	Parkinson, J. 
ENSG00000116675	DNAJC6	26528954	615528	Parkinson disease 19b, early-onset	Parkinson, J. 
ENSG00000164692	COL1A2	2897363	166220	Osteogenesis imperfecta, type IV	Ekman, O. J. Descriptionem casus aliquot osteomalacia sistens. Uppsala: Dissertatio Medica. 1788.
ENSG00000108821	COL1A1	2745420	166220	Osteogenesis imperfecta, type IV	Ekman, O. J. Descriptionem casus aliquot osteomalacia sistens. Uppsala: Dissertatio Medica. 1788.
ENSG00000182944	EWSR1	9135495	612219	Ewing sarcoma	Ewing, J. Diffuse endothelioma of bone. Proc. N. Y. Path. Soc. 21: 17-24, 1921
ENSG00000091592	NLRP1	27965258	617388	Autoinflammation with arthritis and dyskeratosis 	16918630