Vyšetrenia jednotlivých génov

dreamstime_2721105 Z necelých 5000 individuálnych fenotypov s osobitným OMIM číslom ponúkame v našom laboratóriu vyšetrenie zhruba tretiny týchto ochorení. Sú to stovky génov,
ktoré máme metodicky zavedené na analýzu pomocou sekvenovania podľa Sangera, alebo/a delečnej analýzy metódou MLPA resp. fragmentačnou analýzou. Našou špecialitou je dlhoročná skúsenosť a promptnosť pri etablovaní nových génov.

Priemerná doba vyšetrenia jednotlivého génu je 2-4 týždne, vďaka optimalizovanému work-flow v laboratóriu.

Vyhľadávanie DNA testov z našej ponuky.

Hľadať sa dá v angličtine podľa názvu ochorenia, podľa génu alebo podľa gOMIM a pOMIM.

Zoznam génov/ochorení v ponuke

Ochorenie	Skratka	Diagn. OMIM	Gén	Gén OMIM	doba vyšetrenia (dni)
3-hydroxyacyl-CoA dehydrogenase deficiency	HADH	231530	HAD	601609	7
3-M syndrome 1	3M	273750	CUL7	609577	21
3-methylglutaconic aciduria, type III	MGCA3	258501	OPA3	606580	7
46XX sex reversal 1	SRXX1	400045	SRY	480000	7
46XY partial gonadal dysgenesis, with minifascicular neuropathy		607080	DHH	605423	7
46XY sex reversal 1	SRXY1	400044	SRY	480000	7
46XY sex reversal 3	SRXY3	612965	NR5A1	184757	7
46XY sex reversal 7	SRXY7	233420	DHH	605423	7
ABCD syndrome	ABCDS	600501	EDNRB	131244	7
Abetalipoproteinemia	ABL	200100	MTP	157147	14
Achondrogenesis Ib	ACG1B	600972	SLC26A2	606718	7
Achondrogenesis, type II or hypochondrogenesis	ACG2	200610	COL2A1	120140	25
Achondroplasia	ACH	100800	FGFR3	134934	14
Acne inversa, familial, 3	ACNINV3	613737	PSEN1	104311	10
Acrodysostosis 1, with or without hormone resistance	ADOHR	101800	PRKAR1A	188830	7
Acrokeratosis verruciformis	AKV	101900	ATP2A2	108740	14
Acromicric dysplasia	ACMICD	102370	FBN1	134797	28
ACTH-independent macronodular adrenal hyperplasia	AIMAH	219080	GNAS	139320	14
Acyl-CoA dehydrogenase, medium chain, deficiency of	MCAD	201450	ACADM	607008	10
Adenomas, multiple colorectal	FAP2	608456	MUTYH	604933	14
Adenomatous polyposis coli	FAP1	175100	APC	611731	21
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		202010	CYP11B1	610613	7
Adrenal hyperplasia, congenital, due to 17-hydroxylase deficiency		202110	CYP17A1	609300
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	CAH	608089	CYP21A2	613815	10
Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism	AHC	300200	NR0B1	300473	7
Adrenoleukodystrophy/Adrenomyeloneuropathy	ALD	300100	ABCD1	300371	14
ADULT syndrome	ADULT	103285	TP63	603273	7
Afibrinogenemia, congenital		202400	FGA	134820	10
Afibrinogenemia, congenital		202400	FGB	134830	7
Afibrinogenemia, congenital		202400	FGG	134850	7
Agammaglobulinemia, X-linked 1	XLA	300755	BTK	300300	14
Aicardi-Goutieres syndrome 1	AGS1	225750	TREX1	606609	7
Aicardi-Goutieres syndrome 6	AGS6	615010	ADAR	146920	18
Alagille syndrome 1	ALGS1	118450	JAG1	601920	16
Alagille syndrome 2	ALGS2	610205	NOTCH2	600275	21
Albinism, oculo cutaneous, type VI	OCA6	113750	SLC24A5	609802	7
Albinism, oculocutaneous IA	OCA1A	203100	TYR	606933	7
Albinism, oculocutaneous II	OCA2	203200	OCA2	611409	3
Albinism, oculocutaneous IV	OCA4	606574	SLC45A2	606202	7
Albinism, oculocutaneous, type III	OCA3	203290	TYRP1	115501
Albinism, oculocutaneous, type VII	OCA7	615179	C10ORF11	614537	7
Aldosteronism, glucocorticoid-remediable	GRA	103900	CYP11B1	610613	7
Alexander disease	ALXDRD	203450	GFAP	137780	10
Allan-Herndon-Dudley syndrome	AHDS	300523	SLC16A2	300095	7
Alpha-1-Antitrypsin deficiency		613490	SERPINA1	107400	7
Alpha-Thalassemia		604131	HBA	141800	7
Alport syndrome , X-linked	ATS	301050	COL4A5	303630
Alport syndrome, autosomal dominant		104200	COL4A3	120070
Alport syndrome, autosomal recessive		203780	COL4A4	120131
Alternating hemiplegia of childhood 2	AHC2	614820	ATP1A3	182350	18
Alzheimer disease, type 3	AD3	607822	PSEN1	104311	10
Amelogenesis imperfecta IB	AI1B	104500	ENAM	606585	14
Amelogenesis imperfecta IC	AI1C	204650	ENAM	606585	14
Amelogenesis imperfecta IIA1	AI2A1	204700	KLK4	603767	7
Amelogenesis imperfecta III	AI3	130900	FAM83H	611927	10
Amyloidosis		105200	APOA1	107680	7
Amyloidosis, familial		105200	FGA	134820	10
Amyloidosis, Finnish type -Familial amyloid polyneuropathy type 4		105120	GSN	137350	14
Amyloidosis, hereditary, Transthyretin-related		105210	TTR	176300	7
Amyloidosis, renal		105200	LYZ	153450	7
Amyotrophic lateral sclerosis 01	ALS1	105400	SOD1	147450	7
Amyotrophic lateral sclerosis 02	ALS2	205100	ALS2	606352	21
Amyotrophic lateral sclerosis 04	ALS4	602433	SETX	608465	21
Amyotrophic lateral sclerosis 08	ALS8	608627	VAPB	605704	7
Amyotrophic lateral sclerosis 09	ALS9	611895	ANG	105850	7
Amyotrophic lateral sclerosis 10	ALS10	605078	TARDBP	612069	7
Amyotrophic lateral sclerosis 11	ALS11	612577	FIG4	609390	18
Amyotrophic lateral sclerosis 12	ALS12	613435	OPTN	602432	10
Amyotrophic lateral sclerosis 14	ALS14	613954	VCP	601023	14
Amyotrophic lateral sclerosis 5, juvenile	ALS5	602099	SPG11	610844	21
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia	ALS6	608030	FUS	137070	14
Amyotrophic lateral sclerosis, susceptibility to	ALS1	105400	DCTN1	601143	21
Amyotrophic lateral sclerosis, susceptibility to, 13	ALS13	183090	ATXN2	601517	7
AMYOTROPHY, HEREDITARY NEURALGIC; HNA	HNA	162100	SEPT9	604061	14
Andersen syndrome	LQT7	170390	KCNJ2	600681	7
Androgen insensitivity	AIS	300068	AR	313700	10
Anemia, sideroblastic, X-linked	XLSA	300751	ALAS2	301300	10
Anemia, X-linked, with/without neutropenia and/or platelet abnormalities	XLANP	300835	GATA1	305371	7
Angelman syndrome	AS	105830	15q11-q13		7
Angelman syndrome	AS	105830	UBE3A	601623	14
Angioedema, hereditary	HAE1	106100	C1NH	606860	7
Angioedema, hereditary, type III	HAE3	610618	F12	610619	14
Aniridia	AN	106210	PAX6	607108	14
Anterior segment mesenchymal dysgenesis	ASMD	107250	FOXE3	601094	7
Anterior segment mesenchymal dysgenesis	ASMD	107250	PITX3	602669	7
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	ABS2	207410	FGFR2	176943	14
Aortic aneurysm, ascending, and dissection			FBN1	134797	28
Aortic aneurysm, familial thoracic 6	AAT6	611788	ACTA2	102620	7
Apert syndrome		101200	FGFR2	176943	14
Aphakia, congenital primary		610256	FOXE3	601094	7
Aphasia, primary progressive	FTLD-TDP	607485	GRN	138945	7
Arthrogryposis multiplex congenita, distal, type 1	DA1A	108120	TPM2	190990	7
Arthrogryposis, distal 2A	DA2A	193700	MYH3	160720	21
Arthrogryposis, distal 2B	DA2B	601680	MYH3	160720	18
Arthrogryposis, distal 2B	DA2B	601680	TNNI2	191043	7
Arthrogryposis, distal 2B	DA2B	601680	TNNT3	600692	10
Arthrogryposis, distal 2B	DA2B	601680	TPM2	190990	7
Arthrogryposis, distal, type 3	DA3	114300	PIEZO2	613629	25
Arthrogryposis, distal, type 5	DA5	108145	PIEZO2	613629	21
Arthrogryposis, distal, type 8	DA8	178110	MYH3	160720	21
Asthma, susceptibility to		600807	HNMT	605238	7
Ataxia with Vitamin-E deficiency	AVED	277460	TTPA	600415	7
Ataxia-telangiectasia	AT	208900	ATM	607585	28
Ataxia-telangiectasia-like disorder	ATLD	604391	MRE11A	600814	18
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	EAOH	208920	APTX	606350	7
Ataxia, spastic, 5, autosomal recessive	SPAX5	614487	AFG3L2	604581	7
Atelosteogenesis II	AOII	256050	SLC26A2	606718	7
Atelosteogenesis, type I	AOI	108720	FLNB	603381	25
Atelosteogenesis, type III	AOIII	108721	FLNB	603381	25
Atrial fibrillation, familial, 10	ATFB10	614022	SCN5A	600163	7
Atrial fibrillation, familial, 13	ATFB13	615377	SCN1B	600235	7
Atrial fibrillation, familial, 3	ATFB3	607554	KCNQ1	607542	14
Atrial fibrillation, familial, 4	ATFB4	611493	KCNE2	603796	7
Atrial fibrillation, familial, 9	ATFB9	613980	KCNJ2	600681	7
Atrioventricular septal defect 3	AVSD3	600309	GJA1	121014	7
Autoimmune disease, multisystem, infantile-onset	ADMIO	615952	STAT3	102582	14
Autosomal dominant popliteal pterygium syndrome	PPS	119500	IRF6	607199	7
Avascular necrosis of the femoral head	ANFH	608805	COL2A1	120140	21
Axenfeld-Rieger syndrome 1	RIEG1	180500	PITX2	601542	7
Bamforth-Lazarus syndrome		241850	FOXE1	602617	10
Bannayan-Riley-Ruvalcaba syndrome	BRRS	153480	PTEN	601728	7
Bardet-Biedl syndrome 01	BBS1	209900	BBS1	209901	14
Bardet-Biedl syndrome 02	BBS2	209900	BBS2	606151	14
Bardet-Biedl syndrome 06	BBS6	209900	MKKS	604896	7
Bardet-Biedl syndrome 10	BBS10	209900	BBS10	610148	7
Bardet-Biedl syndrome 12	BBS12	209900	BBS12	610683	7
Bardet-Biedl syndrome 13	BBS13	209900	MKS1	609883	14
Bart-Pumphrey syndrome		149200	GJB2 (Cx26)	121011	7
Barth syndrome	MGCA2	302060	TAZ	300394	14
Bartter syndrome, antenatal, type 1		601678	SLC12A1	600839	21
Bartter syndrome, Antenatal, type 2		241200	KCNJ1	600359	7
Bartter syndrome, type 3	ROMK	607364	CLCNKB	602023	18
Bartter syndrome, type 4a	BSND	602522	BSND	606412	7
Bartter syndrome, type 4B		613090	CLCNKA	602024
Basal Cell Nevus Syndrome	BCNS	109400	PTCH1	601309	21
Beare-Stevenson syndrome	BSTVS	123790	FGFR2	176943	18
Beckwith-Wiedemann syndrome	BWS	130650	CDKN1C	600856	7
Beckwith-Wiedemann syndrome	BWS	130650	NSD1	606681	21
Bent bone dysplasia syndrome	BBDS	614592	FGFR2	176943	14
Bernard-Soulier syndrome A1 (recessive)	BSSA1	231200	GP1BA	606672	7
Bernard-Soulier syndrome A2 (dominant)	BSSA2	153670	GP1BA	606672	7
Bernard-Soulier syndrome B	BSSB	231200	GP1BB	138720	7
Bernard-Soulier syndrome C	BSSC	231200	GP9	173515	7
Bestrophinopathy, autosomal recessive	ARB	611809	BEST1	607854	7
Beta-Thalassemia		613985	HBB	141900	7
Bifid nose with or without anorectal and renal anomalies	BNAR	608980	FREM1	608944
Bleeding disorder, platelet-type, 15	BDPLT15	615193	ACTN1	102575
Bleeding disorder, platelet-type, 16, autosomal dominant	GT	273800	ITGB3	173470	14
Blepharophimosis, epicanthus inversus, and ptosis	BPES	110100	FOXL2	605597	7
Bohring-Opitz syndrome	BOPS	605039	ASXL1	612990	14
Boomerang dysplasia		603381	FLNB	603381	25
Brachydactyly B1	BDB1	113000	ROR2	602337	10
Brachydactyly B2	BDB2	611377	NOG	602991	7
Brachydactyly-syndactyly syndrome	BDSD	610713	HOXD13	142989	7
Brachydactyly, type A2	BDA2	112600	BMP2	112261
Brachydactyly, type D	BDD	113200	HOXD13	142989	7
Brachydactyly, type E	BDE1	113300	HOXD13	142989	7
Brachydactyly, type E2	BDE2	613382	PTHLH	168470	14
Brachyolmia type 3	BCYM3	113500	TRPV4	605427	14
Branchiootic syndrome 1	BOS1	602588	EYA1	601653	10
Branchiootorenal syndrome 1, with or without cataracts	BOR1	113650	EYA1	601653	14
Branchiootorenal syndrome 2	BOR2	610896	SIX5	600963	14
Branchiootorenal syndrome 3	BOS3	113650	SIX1	601205	7
Breast cancer		114480	TP53	191170	7
Breast cancer, early-onset		114480	BRIP1	605882
Breast-Ovarian cancer, familial 1	BROVCA1	604370	BRCA1	113705	21
Breast-Ovarian cancer, familial 2	BROVCA2	612555	BRCA2	600185	21
Breast-Ovarian cancer, familial 3	BROVCA3	613399	Rad51C	602774	7
Breast-ovarian cancer, familial, susceptibility to, 4	BROVCA4	614291	RAD51D	602954	10
Brittle cornea syndrome (Ehlers-Danlos-Syndrome type 6B)	BCS1	229200	ZNF469	612078	18
Bronchiectasis with or without elevated sweat chloride 1	BESC1	211400	SCNN1B	600760	14
Bronchiectasis with or without elevated sweat chloride 2	BESC2	613021	SCNN1A	600228	14
Bronchiectasis with or without elevated sweat chloride 3	BESC3	613071	SCNN1G	600761	14
Brown-Vialetto-Van Laere syndrome 1	BVVLS1	211530	SLC52A3	613350	7
Bruck syndrome 2	BRKS2	609220	PLOD2	601865	14
Brugada syndrome 1	BRGDA1	601144	SCN5A	600163	7
Brugada syndrome 5	BRGDA5	612838	SCN1B	600235	7
Brugada syndrome 6	BrS	613119	KCNE3	604433	7
Brugada syndrome 9	BRGDA9	616399	KCND3	605411	10
Budd-Chiari syndrome	BDCHS	600880	F5	612309	7
Budd-Chiari syndrome	BDCHS	600880	JAK2	147796	18
C syndrome		211750	CD96	606037	14
CADASIL	CADASIL	125310	NOTCH3	600276	18
Caffey disease		114000	COL1A1	120150	21
Campomelic dysplasia	CMPD	114290	SOX9	608160	7
CAPOS syndrome	CAPOS	601338	ATP1A3	182350	14
CARASIL	CARASIL	600142	HTRA1	602194	7
Cardiac valvular dysplasia, X-linked	CVD1	314400	FLNA	300017	21
Cardiofaciocutaneous syndrome	CFC1	115150	BRAF	164757	14
Cardiofaciocutaneous syndrome 2	CFC2	615278	KRAS	190070	7
Cardiofaciocutaneous syndrome 3	CFC3	609942	MAP2K1	176872	10
Cardiofaciocutaneous syndrome 4	CFC4	615280	MAP2K2	601263	10
Cardiomyopathy, dilated, 1A	CMD1A	115200	LMNA	150330	14
Cardiomyopathy, dilated, 1E	CMD1E	601154	SCN5A	600163	7
Cardiomyopathy, dilated, 1L	CMD1L	606685	SGCD	601411	7
Cardiomyopathy, dilated, 1NN	CMD1NN	615916	RAF1	164760	14
Cardiomyopathy, dilated, 1U	CMD1U	613694	PSEN1	104311	10
Cardiomyopathy, dilated, 1X	CMD1X	611615	FKTN	607440	10
Cardiomyopathy, dilated, 3B	CMD3B	302045	DMD	300377	7
Cardiomyopathy, familial hypertrophic	CMH1	192600	CAV3	601253	7
Cardiomyopathy, hypertrophic, 25	CMH25	607487	TCAP	604488	7
Carney complex, type 1	CNC1	160980	PRKAR1A	188830	7
Carotid intimal medial thickness 1	CIMT1	609338	PPARG	601487	7
Carpal tunnel syndrome, familial	CTS1	115430	TTR	176300	7
Cataract 11, multiple types	CTRCT11	610623	PITX3	602669	7
Cataract 12	CTRCT12	611597	BFSP2	603212	7
Cataract 15, multiple types	CTRCT15	604219	MIP	154050	7
Cataract 6, multiple types	CTRCT6	116600	EPHA2	176946	14
Cataract with late-onset corneal dystrophy		106210	PAX6	607108	10
CATSHL syndrome	CATSHL	610474	FGFR3	134934	14
Caudal regression syndrome	SDAM	182940	VANGL1	610132	7
CCFDN-Syndrom, Congenital cataracts, facial dysmorphism, and neuropathy	CCFDN	604168	CTDP1	604927
Central hypoventilation syndrome, congenital	CCHS	209880	RET	164761	18
Cerebral amyloid angiopathy, PRNP-related		137440	PRNP	176640	7
Cerebral creatine deficiency syndrome 1	CCDS1	300352	SLC6A8	300036	7
Cerebrooculofacioskeletal syndrome 1	COFS1	214150	ERCC6	609413	18
Cerebrotendinous xanthomatosis	CTX	213700	CYP27A1	606530	7
Ceroid lipofuscinosis, neuronal, 1	CLN1	256730	PPT1	600722	7
Ceroid lipofuscinosis, neuronal, 11	CLN11	614706	GRN	138945	7
Ceroid lipofuscinosis, neuronal, 2	NCL2	204500	TPP1	607998	10
Ceroid lipofuscinosis, neuronal, 3	CLN3	204200	CLN3	607042	10
Charcot-Marie-Tooth 1A	CMT1A	118220	PMP22	601097	7
Charcot-Marie-Tooth 1B	CMT1B	118200	MPZ	159440	7
Charcot-Marie-Tooth 1D	CMT1D	607678	EGR2	129010	7
Charcot-Marie-Tooth 1E	CMT1E	118300	PMP22	601097	7
Charcot-Marie-Tooth 1F	CMT1F	607734	NEFL	162280	7
Charcot-Marie-Tooth 2A	CMT2A	609260	MFN2	608507	14
Charcot-Marie-Tooth 2B1	CMT2B1	605588	LMNA	150330	14
Charcot-Marie-Tooth 4J	CMT4J	611228	FIG4	609390	14
Charcot-Marie-Tooth disease, axonal, type 2F	CMT2F	606595	HSPB1	602195	7
Charcot-Marie-Tooth disease, axonal, type 2K	CMT2K	607831	GDAP1	606598	7
Charcot-Marie-Tooth disease, axonal, type 2L	CMT2L	608014	HSPB8	608014	7
Charcot-Marie-Tooth disease, axonal, type 2M	CMTDIB	606482	DNM2	602378
Charcot-Marie-Tooth disease, axonal, type 2V	CMT2V	616491	NAGLU	609701	10
Charcot-Marie-Tooth disease, axonal, type 2X	CMT2X	616668	SPG11	610844	21
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis		607706	GDAP1	606598	7
Charcot-Marie-Tooth disease, dominant intermediate D	CMTDID	607791	MPZ	159440	7
Charcot-Marie-Tooth disease, recessive intermediate, A	CMTRIA	608340	GDAP1	606598	7
Charcot-Marie-Tooth disease, type 1C	CMT1C	601098	LITAF	603795	7
Charcot-Marie-Tooth disease, type 2D	CMT2D	601472	GARS	600287	14
Charcot-Marie-Tooth disease, type 2E	CMT1F	607684	NEFL	162280	7
Charcot-Marie-Tooth disease, type 2I	CMT2I	607677	MPZ	159440	7
Charcot-Marie-Tooth disease, type 2J	CMT2J	607736	MPZ	159440	7
Charcot-Marie-Tooth disease, type 2Y	CMT2Y	616687	VCP	601023	14
Charcot-Marie-Tooth disease, type 4A	CMT4A	214400	GDAP1	606598	7
Charcot-Marie-Tooth disease, type 4K	CMT4K	616684	SURF1	185620	7
Charcot-Marie-Tooth X-linked	CMTX1	302800	GJB1	304040	7
CHARGE syndrome	HHS	214800	CHD7	608892	21
Cherubism	CRBM	118400	SH3BP2	602104	7
Chilblain lupus		610448	TREX1	606609	7
Cholestasis, benign recurrent intrahepatic	ICP1	243300	ATP8B1	602397	14
Cholestasis, benign recurrent intrahepatic, 2	BRIC2	605479	ABCB11	603201	18
Cholestasis, intrahepatic, of pregnancy, 1	ICP1	147480	ATP8B1	602397	14
Cholestasis, intrahepatic, of pregnancy, 3	ICP3	614972	ABCB4	171060	21
Cholestasis, progressive familial intrahepatic 1	PFIC1	211600	ATP8B1	602397	18
Cholestasis, progressive familial intrahepatic 2	PFIC2	601847	ABCB11	603201	18
Cholestasis, progressive familial intrahepatic 3	PFIC3	602347	ABCB4	171060	21
Chondrodysplasia punctata	CDPX1	302950	ARSE	300180	7
Chondrodysplasia punctata, rhizomelic, type 1	RCDP1	215100	PEX7	601757	10
Chondrodysplasia, Blomstrand type	BOCD	215045	PTHR1	168468	14
Chondrosarcoma		215300	EXT1	608177	10
Chorea, hereditary benign	BHC	118700	NKX2-1	600635	7
Choriodal dystrophy, central areolar 2	CACD2	613105	PRPH2	179605	7
Choroideremia	CHM	303100	CHM	300390	10
Chronic infections, due to MBL deficiency	MBL2	614372	MBL2	154545	7
Ciliary dyskinesia, primary, 1, with or without situs inversus	PCD, CILD1	244400	DNAI1	604366	7
Ciliary dyskinesia, primary, 3, with or without situs inversus	CILD3	608644	DNAH5	603335	7
CINCA syndrome	CINCA	607115	NLRP3	606416	14
Cleft lip/palate-ectodermal dysplasia syndrome	CLPED1	225060	PVRL1	600644	10
Cleft palate with ankyloglossia X-linked	CPX	303400	TBX22	300307	14
Cockayne syndrome	CSA	216400	ERCC8	609412	10
Cockayne syndrome B	CSB	133540	ERCC6	609413	21
Codeine sensitivity- DRUG METABOLISM, POOR, CYP2D6-RELATED		608902	Cyp2D6	124030	7
Coffin-Lowry syndrome	CLS	303600	RPS6KA3	300075	18
Cohen syndrome	COH1	216550	VPS13B	607817	28
Coloboma isolated		610210	MAF1	610210	10
Coloboma isolated		604295	VAX2	604295	10
Coloboma of optic nerve		120430	PAX6	607108	14
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas	MAP	132600	MUTYH	604933	14
Colorectal cancer	CRC	114500	TP53	191170	7
Colorectal cancer, hereditary nonpolyposis, 1	HNPCC1	120435	MSH2	609309	14
Colorectal cancer, hereditary nonpolyposis, 2	HNPCC2	609310	MLH1	120436	14
Colorectal cancer, hereditary nonpolyposis, 5	HNPCC5	614350	MSH6	600678	14
Colorectal cancer, hereditary nonpolyposis, type 4	HNPCC4	614337	PMS2	600259	14
Colorectal cancer, hereditary nonpolyposis, type 6	HNPCC6	614331	TGFBR2	190182	10
Colorectal cancer, hereditary nonpolyposis, type 8	HNPCC8	613244	EPCAM	185535	7
Combined oxidative phosphorylation deficiency-14	COXPD14	614946	FARS2	611592	7
Complement component 4, partial deficiency of		120790	C1NH	606860	7
Cone-rod dystrophy 13	CORD13	608194	RPGRIP1	605446
Cone-rod dystrophy 2	CORD2	120970	CRX	602225
Cone-rod dystrophy 6	CORD6	601777	GUCY2D	600179	14
Cone-rod dystrophy, X-linked, 1	CORDX1	304020	RPGR	312610	21
Congenital disorder of glycosylation, type Ia	CDG1A	212065	PMM2	601785	7
Congenital myopathy with excess of muscle spindles	CSTLO	218040	HRAS	190020	7
Congenital short bowel syndrome	IPOX	300048	FLNA	300017	21
Convulsions, familial infantile with paroxysmal choreoathetosis	ICCA	602066	PRRT2	614386	7
Coproporphyria	HCP	121300	CPOX	612732	10
Cornelia de Lange syndrome 5	CDLS5	300882	HDAC8	300269	10
Cornelia-de-Lange syndrome 1	CDLS1	122470	NIPBL	608667	21
Cornelia-de-Lange syndrome 3	CDLS3	610759	SMC3	606062	21
Corpus callosum, partial agenesis of		304100	L1CAM	308840	18
Cowden syndrome 1	CWS1	158350	PTEN	601728	7
Cowden syndrome 2	CWS2	612359	SDHB	185470	7
Cowden syndrome 3		615106	SDHD	602690	7
CPT deficiency, hepatic IA		255120	CPT1A	600528	14
CPT deficiency, hepatic, type II		600649	CPT2	600650	10
CPT II deficiency, lethal neonatal		608836	CPT2	600650	7
Craniofacial-deafness-hand syndrome	CDHS	122880	PAX3	606597	10
Craniofrontonasal dysplasia	CFNS	304110	EFNB1	300035
Craniometaphyseal dysplasia, autosomal recessive	CMDR	218400	GJA1	121014	7
Creatine phosphokinase, elevated serum		123320	CAV3	601253	7
Creutzfeldt-Jakob disease	CJD	123400	PRNP	176640	7
Cri-du-chat syndrome	CDC	123450	CTNND2	604275	7
Crigler-Najjar syndrome	HBLRCN1	218800	UGT1A1	191740	7
Crouzon syndrome		123500	FGFR2	176943	18
Crouzon syndrome with acanthosis nigricans	CAN	612247	FGFR3	134934	14
Currarino syndrome		176450	MNX1	142994	7
Cushing syndrome, ACTH-independent adrenal, somatic		615830	PRKACA	601639
Cutaneous Malignant Melanoma	CMM2	155601	CDKN2A	600160	7
Cutis laxa, autosomal dominant 2	ADCL2	614434	FBLN5	604580	10
Cutis laxa, autosomal recessive, type IA	ARCL1A	219100	FBLN5	604580	10
Cystic Fibrosis	CF	219700	CFTR	602421	18
Cystinosis, nephropathic	CTNS	219800	CTNS	606272	7
Cystinosis, ocular nonnephropathic		219750	CTNS	606272	7
Cystinuria	CSNU	220100	SLC3A1	104614	10
Czech dysplasia		609162	COL2A1	120140	25
Dandy-Walker malformation		220200	FOXC1	601090	7
Dandy-Walker malformation		220200	FOXL2	605597	7
Danon disease		300257	LAMP2	309060	7
Darier Disease	DAR	124200	ATP2A2	108740	18
De Sanctis-Cacchione syndrome	UVSS1	133540	ERCC6	609413	21
Deafness, autosomal dominant 11	DFNA11	601317	MYO7A	276903	21
Deafness, autosomal dominant 17	DFNA17	603622	MYH9	160775	21
Deafness, autosomal dominant 23	DFNA23	605192	SIX1	601205	7
Deafness, autosomal dominant 3A	DFNA3A	601544	GJB2 (Cx26)	121011	7
Deafness, autosomal dominant 3B	DFNA3B	612643	GJB6 (Cx30)	604418	7
Deafness, autosomal dominant 4A	DFNA4	600652	MYH14	608568	7
Deafness, autosomal recessive 1B	DFNB1B	612645	GJB6 (Cx30)	604418	7
Deafness, autosomal recessive 2	DFNB2	600060	MYO7A	276903	21
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct	DFNB4	600791	SLC26A4	605646	14
Deafness, digenic 1A	DFNB1A	220290	GJB6 (Cx30)	604418	7
Deafness, neurosensory, autosomal recessive	DFNB1A	220290	GJB2 (Cx26)	121011	7
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL		500008	MT-ND1	516000	7
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL		500008	MT-RNR1	561000	7
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL		500008	MT-TH	590040	7
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL		500008	MT-TS1	590080	7
Dejerine-Sottas disease	DSS	145900	EGR2	129010	7
Dejerine-Sottas disease	DSS	180800	PMP22	601097	7
Dementia, frontotemporal	FTD	600274	MAPT	157140	7
Dementia, frontotemporal	FTD	600274	PSEN1	104311	10
Dent disease 2		300555	OCRL1	300535	21
Dentatorubro-pallidoluysian atrophy	DRPLA	125370	ATN1	607462	7
Denys-Drash syndrome	DDS	194080	WT1	607102	10
Desmoid disease, hereditary	FAP1	135290	APC	611731	21
Diabetes insipidus, nephrogenic	NDI	304800	AQP2	107777
Diabetes insipidus, nephrogenic	NDI	304800	AVPR2	300538
Diabetes mellitus, insulin-dependent, 2	IDDM2	125852	INS	176730	7
Diabetes mellitus, insulin-dependent, 20	IDDM20	612520	HNF1A	142410	7
Diabetes mellitus, ketosis-prone	KPD	612227	PAX4	167413	7
Diabetes mellitus, noninsulin-dependent	NIDDM	125853	HNF1B	189907	7
Diabetes mellitus, noninsulin-dependent	NIDDM	125853	PAX4	167413	7
Diabetes mellitus, noninsulin-dependent, 2	NIDDM	125853	HNF1A	142410	7
Diabetes mellitus, noninsulin-dependent, late onset	NIDDM	125853	GCK	138079	21
Diabetes mellitus, permanent neonatal	PNDM	606176	ABCC8	600509	21
Diabetes mellitus, permanent neonatal	PNDM	606176	GCK	138079	10
Diabetes mellitus, permanent neonatal	PNDM	606176	KCNJ11	600937	7
Diabetes mellitus, transient neonatal 2	TNDM2	610374	ABCC8	600509	21
Diabetes mellitus, transient neonatal, 3	PNDM	610582	KCNJ11	600937	7
Diastrophic dysplasia	DTD	222600	SLC26A2	606718	7
DiGeorge syndrome		188400	22q11.2	188400	7
Digital arthropathy-brachydactyly, familial	FDAB	606835	TRPV4	605427	14
Dihydropyrimidin Dehydrogenase deficiency	DYPD	274270	DPYD	274270	3
Dowling-Degos disease 1	DDD1	179850	KRT5	148040	10
Dravet syndrome	EIEE6	607208	SCN1A	182389	21
Duane-radial ray syndrome	DRRS	607323	SALL4	607343	10
Dubin-Johnson syndrome	DJS	237500	ABCC2	601107	21
Dysautonomia, familial	HSAN3	223900	IKBKAP	603722	21
Dyschromatosis symmetrica hereditaria	DSH	127400	ADAR	146920	21
Dyschromatosis universalis hereditaria 3	DUH3	615402	ABCB6	605452	21
Dysfibrinogenemia		202400	FGB	134830	7
Dysfibrinogenemia		202400	FGG	134850	7
Dysfibrinogenemia, congenital		616004	FGA	134820	10
Dysprothrombinemia/Hypoprothrombinemia		613679	F2	176930	10
Dystonia 01	DYT1	128100	TOR1A	605204	7
Dystonia 11	DYT11	159900	SGCE	604149	10
Dystonia 25	DYT25	615073	GNAL	139312	14
Dystonia 6, torsion	DYT6	602629	THAP1	609520	7
Dystonia 9	DYT9	601042	SLC2A1	138140	10
Dystonia-12	DYT12	128235	ATP1A3	182350	14
Dystonia, DOPA-responsive, with or without hyperphenylalaninemia	DRD	128230	GCH1	600225	7
Dystonia, DOPA-responsive, with or without hyperphenylalaninemia	DRD	128230	GCH1	600225	7
Dystransthyretinemic hyperthyroxinemia		145680	TTR	176300	7
Ectodermal dysplasia 1, hypohidrotic, X-linked	XHED	305100	EDA	300451	10
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	ECTD10A	129490	EDAR	604095	10
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	ECTD10B	224900	EDAR	604095	10
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	ECTD11A	129490	EDARADD	606603	7
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	ECTD11B	614941	EDARADD	606603	7
Ectodermal dysplasia 2, Clouston type	ECTD2	129500	GJB6 (Cx30)	604418	7
Ectodermal dysplasia 3, Witkop type	ECTD3	189500	MSX1	142983	7
Ectodermal dysplasia-syndactyly syndrome 1	EDSS1	613573	PVRL4	609607	10
Ectodermal dysplasia, anhidrotic, lymphedema and immunodeficiency	OLEDAID	300301	IKBKG	300248	10
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency	ED	612132	NFKBIA	164008	7
Ectodermal dysplasia, hypohidrotic, with immune deficiency	HED-ID	300291	IKBKG	300248	10
Ectopia lentis, familial	ECTOL1	129600	FBN1	134797	28
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	EEC3	604292	TP63	603273	14
Ehlers-Danlos syndrome II	EDSII	130010	COL5A1	120215	28
Ehlers-Danlos syndrome IV	EDSIV	130050	COL3A1	120180	21
Ehlers-Danlos syndrome VIIB	EDSVIIB	130060	COL1A2	120160	21
Ehlers-Danlos syndrome VIIC	EDSVIIC	225410	ADAMTS2	604539	21
Ehlers-Danlos syndrome, autosomal dominant, hypermobility type		130020	TNXB	600985	7
Ehlers-Danlos syndrome, cardiac valvular form		225320	COL1A2	120160	21
Ehlers-Danlos syndrome, classic type	EDSI	130000	COL1A1	120150	25
Ehlers-Danlos syndrome, classic type	EDSI	130000	COL5A1	120215	28
Ehlers-Danlos syndrome, classic type	EDSI	130000	COL5A2	120190	28
Ehlers-Danlos syndrome, musculocontractural type 1	EDSMC1	601776	CHST14	608429	7
Eiken syndrome		600002	PTHR1	168468	14
Emery-Dreifuss muscular dystrophy 2, AD	EDMD2	181350	LMNA	150330	14
Emery-Dreifuss muscular dystrophy 3, AR	EDMD3	616516	LMNA	150330	14
Encephalopathy, acute, infection-induced, 4, susceptibility to	IIAE4	614212	CPT2	600650	7
Encephalopathy, neonatal severe		300673	MECP2	300005	7
Encephalopathy, progressive, with or without lipodystrophy	PELD	615924	BSCL2	606158	7
Endometrial cancer, familial		608089	MSH3	600887	18
Endometrial cancer, familial		608089	MSH6	600678	14
Endometrial carcinoma		608089	CDH1	192090
Endometrial carcinoma		608089	MSH3	600887
Endometrial carcinoma		608089	MSH6	600678
Endometrial carcinoma		608089	PTEN	601728
Enhanced S-cone syndrome (Goldmann-Favre syndrome)	ESCS	268100	NR2E3	604485	7
Epidermolysis bullosa simplex-MP	EBSMP	131960	KRT5	148040	10
Epidermolysis bullosa simplex, Dowling-Meara type	EBSDM	131760	KRT5	148040	10
Epidermolysis bullosa simplex, Koebner type		131900	KRT5	148040	10
Epidermolysis bullosa simplex, recessive 1	EBSB1	601001	KRT5	148040	10
Epidermolysis bullosa simplex, Weber-Cockayne type	EBSB1	131800	KRT5	148040	10
Epidermolytic hyperkeratosis	EHK	113800	KRT1	139350	10
Epidermylysis bullosa simplex-MCR		609352	KRT5	148040	10
Epilepsy of Lafora	MELF	254780	EPM2A	607566	10
Epilepsy of Lafora	MELF	254780	NHLRC1	608072	7
Epilepsy of Unverricht and Lundborg	EPM1	254800	CSTB	601145	7
Epilepsy, benign neonatal 1	EBN1	121200	KCNQ2	602235	14
Epilepsy, childhood absence, susceptibility to, 2	ECA2	607681	GABRG2	137164	10
Epilepsy, familial temporal lobe, 1	ETL1	600512	LGI1	604619	7
Epilepsy, familial temporal lobe, 5	ELT5	614417	CPA6	609562	10
Epilepsy, familial temporal lobe, 7	ETL7	616436	RELN	600514	21
Epilepsy, focal, with speech disorder and with or without mental retardation	FESD	245570	GRIN2A	138253	14
Epilepsy, generalized with febrile seizures plus (GEFS+) 1	GEFSP1	604233	SCN1B	600235	7
Epilepsy, generalized with febrile seizures plus (GEFS+) 2	GEFSP2	604403	SCN1A	182389	21
Epilepsy, generalized with febrile seizures plus (GEFS+) 3	GEFSP3	611277	GABRG2	137164	10
Epilepsy, generalized with febrile seizures plus (GEFS+) 5	GEFSP5	613060	GABRD	137163	7
Epilepsy, generalized with febrile seizures plus, type 7	GEFSP7	613863	SCN9A	603415	21
Epilepsy, idiopathic generalized, 11	EIG11	607628	CLCN2	600570	21
Epilepsy, idiopathic generalized, 8	EIG8	612899	CASR	601199	10
Epilepsy, idiopathic generalized, susceptibility to, 9		607682	CACNB4	601949	14
Epilepsy, idiopathic generalized, suscpetibility to, 12	EIG12	138140	SLC2A1	138140	7
Epilepsy, juvenile absence, susceptibility to, 1	EJA1	608815	EFHC1	608815	10
Epilepsy, juvenile absence, susceptibility to, 2	EJA2	607628	CLCN2	600570	21
Epilepsy, juvenile myoclonic 6	EJM6/EIG9	607682	CACNB4	601949	14
Epilepsy, juvenile myoclonic 8	EJM8	607628	CLCN2	600570	21
Epilepsy, juvenile myoclonic, susceptibility to, 5	EJM5	611136	GABRA1	137160	7
Epilepsy, nocturnal frontal lobe 3	ENFL3	605375	CHRNB2	118507	7
Epilepsy, nocturnal frontal lobe, 1	ENFL1	600513	CHRNA4	118504	10
Epilepsy, nocturnal frontal lobe, 5	ENFL5	615005	KCNT1	608167	21
Epilepsy, nocturnal frontal lobe, type 4	ENFL4	610353	CHRNA2	118502	10
Epilepsy, Pyriodoxine-dependent	EPD	266100	ALDH7A1	107323	18
Epileptic encephalopathy, early infantile 01	EIEE1	308350	ARX	300382	7
Epileptic encephalopathy, early infantile 11	EIEE11	613721	SCN2A	182390	21
Epileptic encephalopathy, early infantile 2	EIEE2	300672	CDKL5	300203	18
Epileptic encephalopathy, early infantile 5	EIEE5	613477	SPTAN1	182810	25
Epileptic encephalopathy, early infantile 7	EIEE7	613720	KCNQ2	602235	14
Epileptic encephalopathy, early infantile 9	EIEE9	300088	PCDH19	300460	14
Epileptic encephalopathy, early infantile, 14	EIEE14	614959	KCNT1	608167	21
Epileptic encephalopathy, early infantile, 19	EIEE19	615744	GABRA1	137160	7
Epileptic encephalopathy, early infantile, 24	EIEE24	615871	HCN1	602780	7
Epileptic encephalopathy, early infantile, 4	EIEE4	612164	STXBP1	602926	14
Epileptic encephalopathy, Lennox Gastaut type		606369	MAPK10	602897	14
Epiphyseal dysplasia, multiple, 1	EDM1	132400	COMP	600310	14
Epiphyseal dysplasia, multiple, 2	EDM2	600204	COL9A2	120260	7
Epiphyseal dysplasia, multiple, 3	EDM 3	600969	COL9A3	120270	7
Epiphyseal dysplasia, multiple, 4	EDM4	226900	SLC26A2	606718	7
Epiphyseal dysplasia, multiple, 5	EDM 5	607078	MATN3	602109	7
Epiphyseal dysplasia, multiple, 6	EDM6	614135	COL9A1	120210	7
Epiphyseal dysplasia, multiple, with myopia and deafness	EDMMD	132450	COL2A1	120140	25
Episodic Ataxia 2	EA2	108500	CACNA1A	601011	28
Episodic Ataxia 5	EA5	613855	CACNB4	601949	14
Episodic Ataxia 6	EA6	612656	SLC1A3	600111	7
Episodic ataxia/myokymia syndrome	EA1	160120	KCNA1	176260	7
Episodic kinesigenic dyskinesia 1	EKD1	128200	PRRT2	614386	7
Episodic pain syndrome, familial, 1	FEPS1	615040	TRPA1	604775	18
Episodic pain syndrome, familial, 2	FEPS2	615551	SCN10A	604427	21
Episodic pain syndrome, familial, 3	FEPS3	615552	SCN11A	604385	21
Epstein syndrome		153650	MYH9	160775	21
Erythermalgia		133020	SCN9A	603415	21
Erythrocytosis, familial, 2	ECYT2	263400	VHL	608537	7
Erythrokeratodermia variabilis et progressiva	EKVP	133200	GJA1	121014	7
Esophageal cancer	ESCC	133239	TGFBR2	190182	10
Exudative vitreoretinopathy 1	EVR1	133780	FZD4	604579	7
Exudative vitreoretinopathy 2, X-linked	ND	310600	NDP	300658	7
Exudative vitreoretinopathy 4	EVR4	601813	LRP5	603506	21
Fabry disease		301500	GLA	300644	10
Facioscapulohumeral muscular dystrophy 1A	FSHD	158900	D4Z4 REPEAT	606009	35
Factor V deficiency		227400	F5	612309	7
Factor VII deficiency		227500	F7	613878	7
Factor X deficiency		227600	F10	227600	7
Factor XI deficiency		612416	F11	264900	14
Factor XII deficiency		234000	F12	610619	14
FAHR DISEASE, FAMILIAL, FORMERLY	IBGC1	213600	SLC20A2	158378	10
Failure of tooth eruption, primary	PFE	125350	PTHR1	168468	14
Familial cold urticaria	FCAS1	120100	NLRP3	606416	14
Familial Mediterranean Fever, AD	FMF	134610	MEFV	608107	14
Fanconi anemia, complementation group D1	FANCD1	605724	BRCA2	600185	21
Fanconi anemia, complementation group J	FANCJ	609054	BRIP1	605882
Fanconi anemia, complementation group N	FANCN	610832	PALB2	610355	14
Fanconi anemia, complementation group O	FANCO	613399	Rad51C	602774	7
Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young	FRTS4	616026	HNF4A	600281	10
Fanconi-Bickel syndrome	FBS	227810	SLC2A2	138160	10
Fazio-Londe Disease		211500	SLC52A3	613350	7
Febrile seizures, familial, 11	FEB11	614418	CPA6	609562	10
Fechtner syndrome	FTNS	153640	MYH9	160775	21
Fetal akinesia deformation sequence	FADS	208150	DOK7	610285	7
Fetal akinesia deformation sequence	FADS	208150	RAPSN	601592	7
FG syndrome 2	FGS2	300321	FLNA	300017	21
Fibromatosis, gingival	GINGF1	135300	SOS1	182530	21
Focal cortical dysplasia, Taylor balloon cell type	FCDT	607341	TSC1	605284	21
Focal dermal hypoplasia	FDH	305600	PORCN	300651	10
Foveal hyperplasia	FVH1	136520	PAX6	607108	14
Fragile X syndrome A		300624	FMR1	309550	14
Fragile X-associated tremor/ataxia syndrome	FXTAS	300623	FMR1	309550	7
Frank-ter Haar syndrome	FTHS	249420	SH3PXD2B	613293	14
Frasier syndrome		136680	WT1	607102	10
Friedreich ataxia	FRDA	229300	FXN1	606829	7
Frontometaphyseal dysplasia	FMD	305620	FLNA	300017	21
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	FTDALS1	105550	C9orf72	614260	7
Frontotemporal lobar degeneration	FTLD-TDP	605078	TARDBP	612069	7
Frontotemporal lobar degeneration with ubiquitin-positive inclusions	FTD	607485	GRN	138945	7
Fructose intolerance		229600	ALDOB	612724	7
Fuhrmann syndrome		228930	WNT7A	601570	7
Fumarase deficiency	FMRD	606812	FH	136850	10
Galactosemia	GALT	230400	GALT	606999	14
Gallbladder disease 1	GBD1	600803	ABCB4	171060	21
Gastric Cancer	HDGC	137215	CDH1	192090	14
Gastrointestinal stromal tumor	GIST	606764	SDHB	185470	7
Gastrointestinal stromal tumor		606764	SDHC	602413	7
Gastrointestinal stromal tumor	GIST	606764	SDHD	602690	7
Geleophysic dysplasia 2	GPHYSD2	614185	FBN1	134797	28
Gilles-de-la-Tourette syndrome	GTS	137580	SLITRK1	609678	7
Gillespie syndrome		206700	PAX6	607108	14
Glaucoma 1, open angle, G	GLC1G	609887	WDR36	609669
Glaucoma 1A, primary open angle	GLC1A	137750	MYOC	601652
Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset	GLC3A	231300	CYP1B1	601771	7
Glioblastoma 3	GLM3	613029	BRCA2	600185	21
GM1-gangliosidosis, type I	GM1	230500	GLB1	611458	14
GM1-gangliosidosis, type II		230600	GLB1	611458	14
GM1-gangliosidosis, type III		230650	GLB1	611458	14
Gnathodiaphyseal dysplasia	GDD	166260	ANO5	608662	21
Growth hormone insensitivity with immunodeficiency		245590	STAT5B	604260	14
Growth hormone insensitivity, partial	GHIP	604271	GHR	600946	10
Growth restriction, severe, with distinctive facies	GRDF	616489	IGF2	147470
Hailey–Hailey disease	BCPM, HHD	169600	ATP2C1	604384	21
Hajdu-Cheney syndrome	HJCYS	102500	NOTCH2	600275	21
HARP syndrome	HARP	607236	PANK2	606157	7
Heart-hand syndrome, Slovenian type		610140	LMNA	150330	14
Hematuria, benign familial	BFH	141200	COL4A4	120131
Hemochromatosis	HFE	235200	HFE	235200	7
Hemochromatosis, type 4	HFE4	606069	SLC40A1	604653	7
Hemophagocytic Lymphohistiocytosis 2	FHL2	603553	PRF1	170280	7
Hereditary motor and sensory neuropathy VIA	HMSN6A	601152	MFN2	608507	14
Hereditary nonpolyposis colon cancer	HNPCC	120435	MSH3	600887	18
Hereditary nonpolyposis colon cancer	HNPCC	120435	PMS1	600258	14
Hermansky-Pudlak Syndrome 3	HPS3	614072	HPS3	606118	14
Hermansky-Pudlak Syndrome 4	HPS4	614073	HPS4	606682	10
Hermansky-Pudlak Syndrome 5		614074	HPS5	607521
Hermansky-Pudlak Syndrome 6		614075	HPS6	607522
Hermansky-Pudlak Syndrome 7	HPS7	614076	DTNBP1	607145	10
Hermansky-Pudlak Syndrome 8		614077	BLOC1S3	609762
Heterotopia, periventricular	PVNH1	300049	FLNA	300017	21
Hirschsprung disease, susceptibility to, 1	HSCR1	142623	RET	164761	18
Huntington disease like 1	HDL1	603218	PRNP	176640	7
Huntington disease like 2	HDL2	606430	JPH3	605268	7
Hutchinson-Gilford progeria syndrome	HGPS	176670	LMNA	150330	14
Hyper-IgE recurrent infection syndrome	JOB	147060	STAT3	102582	14
Hyperbilirubinemia, familial transient neonatal		237900	UGT1A1	191740	7
Hypercalcemia, infantile		143880	Cyp24A1	126065	14
Hypercholesterolemia		143890	LDLR	606945	14
Hyperekplexia 2, autosomal recessive	HKPX2	614619	GLRB	138492	7
Hyperferritinemia-cataract syndrome	HHCS	600886	FTL	134790	7
Hyperinsulinemic hypoglycemia, familial, 1	HHF1	256450	ABCC8	600509	21
Hyperinsulinemic hypoglycemia, familial, 2	HHF2	601820	KCNJ11	600937	7
Hyperinsulinemic hypoglycemia, familial, 3	HHF3	602485	GCK	138079	10
Hyperinsulinemic hypoglycemia, familial, 4	HHF4	609975	HADH	601609	7
Hyperinsulinism-hyperammonemia syndrome	HHF6	606762	GLUD1	138130	10
Hyperkalemic periodic paralysis, type 2	HYPP2	170500	SCN4A	603967	14
Hyperlipoproteinemia, type III		107741	APOE	107741	3
Hyperornithinemia-Hyperammonemia-Homocitrullinemina Syndrom	HHH	238970	SLC25A15	603861	7
Hyperostosis, endosteal		144750	LRP5	603506	21
Hyperoxaluria, primary I	HP1	259900	AGXT	604285	10
Hyperoxaluria, primary III	HP3	613616	HOGA1	613597	10
Hyperparathyroidism, neonatal	NSHPT	239200	CASR	601199	10
Hyperphenylalaninemia, BH4-deficient, B	HPABH4B	233910	GCH1	600225	7
Hyperphenylalaninemia, BH4-deficient, B	HPABH4B	233910	GCH1	600225	7
Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy		605115	NR3C2	600983	10
Hyperthyroidism, familial gestational		603373	TSHR	603372	20
Hyperthyroidism, nonautoimmune		609152	TSHR	603372	20
Hypertriglyceridemia, transient infantile	HTGTI	614480	GPD1	138420	7
Hyperuricemic nephropathy, familial juvenile 1	HNFJ1	162000	UMOD	191845	10
Hypoalphalipoproteinemia	FHA	604091	APOA1	107680	7
Hypobetalipoproteinemia	FHBL1	615558	APOB	107730	7
Hypocalcemia, autosomal dominant	HYPOC1	601198	CASR	601199	10
Hypocalcemia, autosomal dominant 2	HYPOC2	615361	GNA11	139313	7
Hypocalciuric hypercalcemia, type I	HHC1	145980	CASR	601199	10
Hypocalciuric hypercalcemia, type II	HHC2	145981	GNA11	139313	7
Hypochondroplasia	HCH	146000	FGFR3	134934	18
Hypoglycemia of infancy, leucine-sensitive		240800	ABCC8	600509	21
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)	KAL1	308700	KAL1	300836	10
Hypogonadotropic hypogonadism 11 with or without anosmia (Kallmann syndrome 11)		614840	TACR3	162332
Hypogonadotropic hypogonadism 2 with or without anosmia	HH2	147950	FGFR1	136350	14
Hypokalemic periodic paralysis 2	HOKPP2	613345	SCN4A	603967	7
Hypokalemic periodic paralysis, type 1	HOKPP1	170400	CACNA1S	114208	7
Hypoparathyroidism, familial isolated	FIH	146200	GCM2	603716	7
Hypophosphatasia, adult		146300	ALPL	171760	10
Hypophosphatasia, infantile	HOPS	241500	ALPL	171760	10
Hypophosphatemic Rickets	XLHR	307800	PHEX	300550	18
Hypophosphatemic rickets, AR	ARHR1	241520	DMP1	600980
Hypophosphatemic rickets, autosomal dominant	ADHR	193100	FGF23	605380	7
Hypoplastic left heart syndrome 1	HLHS1	241500	GJA1	121014	7
Hypospadias 1, X-linked	HYSP1	300633	AR	313700	10
Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia	CHNG2	218700	PAX8	167415	20
Hypothyroidism, congenital, nongoitrous, 1	CHNG1	275200	TSHR	603372	20
Hystrix-like ichthyosis with deafness		602540	GJB2 (Cx26)	121011	7
Ichthyosis bullosa of Siemens	IBS	146800	KRT2	600194	10
Ichthyosis histrix, Curth-Macklin type	IHCM	146590	KRT1	139350	10
Ichthyosis, cyclic, with epidermolytic hyperkeratosis		607602	KRT1	139350	10
Ichthyosis, X-linked	XLI	308100	STS	300747	10
IFAP syndrome with or without BRESHECK syndrome		308205	MBTPS2	300294	10
IMAGE syndrome	IMAGE	614732	CDKN1C	600856	7
Immunodeficiency, isolated	IMD33	300584	IKBKG	300248	7
Incontinentia pigmenti	IP2	308300	IKBKG	300248	7
Insensitivity to pain, congenital	CIP	243000	SCN9A	603415	21
Insomnia, fatal familial	FFI	600072	PRNP	176640	21
Insulin resistance, severe, digenic	FPLD3	604367	PPARG	601487	7
Intervertebral disc disease, susceptibility to	IDD	603932	COL9A2	120260	7
Intervertebral disc disease, susceptibility to	IDD	603932	COL9A3	120270
Intestinal pseudoobstruction, neuronal	IPOX	300048	FLNA	300017	21
Invasive pneumococcal disease, recurrent isolated, 2	IPD2	300640	IKBKG	300248	7
Iridogoniodysgenesis, type 2	IRID2	137600	PITX2	601542	7
Jackson-Weiss syndrome	JWS	123150	FGFR1	136350	14
Joubert syndrome 10	JBTS10	311200	OFD1	300170
Joubert syndrome 6		610688	TMEM67	609884
Keratitis		148190	PAX6	607108	14
Keratoderma, palmoplantar, with deafness		148350	GJB2 (Cx26)	121011	7
Keratosis follicularis spinulosa decalvans, X-linked	KFSDX	308800	MBTPS2	300294	10
Keratosis palmoplantaris striata III	PPKS3	607654	KRT1	139350	10
Keutel syndrome	KTLS	245150	MGP	154870	7
Klippel-Feil syndrome 3, autosomal dominant	KFS3	613702	GDF3	606522	7
Kniest dysplasia		156550	COL2A1	120140	25
Krabbe disease	GALC	245200	GALC	606890	14
L-ferritin deficiency, dominant and recessive	LFTD	615604	FTL	134790	7
Lactase persistance/nonpersistance		223100	MCM6	601806	7
LADD syndrome	LADD	149730	FGFR2	176943	14
LADD syndrome	LADD	149730	FGFR3	134934	14
Langer mesomelic dysplasia	LMD	249700	SHOX/SHOY	312865	7
Laron dwarfism		262500	GHR	600946	10
Larsen syndrome	LRS	150250	FLNB	603381	25
Lateral meningocele syndrome	LMNS	130720	NOTCH3	600276	18
Leber congenital amaurosis 1	LCA1	204000	GUCY2D	600179	14
Leber congenital amaurosis 7	LCA7	613829	CRX	602225
Leber Optic Atrophy	LHON	535000	mit MTND1, MTND4, MTND6, MTCYB		7
Legg-Calve-Perthes disease	LCPD	150600	COL2A1	120140	25
Leigh syndrome	LS	256000	COX10	602125	10
Leigh syndrome	LS	256000	SURF1	185620	7
Leiomyomatosis and renal cell cancer	HLRCC	150800	FH	136850	14
LEOPARD syndrome 1	LPRD1	151100	PTPN11	176876	14
LEOPARD syndrome 2	LPRD2	611554	RAF1	164760	14
LEOPARD syndrome 3	LPRD3	613707	BRAF	164757	14
Leri-Weill Dyschondrosteosis	LWD; DCO	127300	SHOX/SHOY	312865	7
Lethal congenital contracture syndrome 5	LCCS5	615368	DNM2	602378
Leukocyte adhesion deficiency type 1	LAD1	116920	ITGB2	600065	14
Leukodystrophy, hypomyelinating, 2	HLD2	608804	GJC2	608803
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or Hypogonadotropic hypodonadism	HDL7	607694	POLR3A	614258	21
Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or Hypogonadotropic hypodonadism	HLD8	614381	POLR3B	614366	21
Leukoencephalopathy with ataxia	LKPAT	615651	CLCN2	600570	18
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation	LBSL	611105	DARS2	610956	14
Leukoencephalopathy, diffuse hereditary, with spheroids	HDLS	221820	CSF1R	164770	18
Li-Fraumeni Syndrome	LFS1	151623	TP53	191170	7
Li-Fraumeni syndrome	LFS2	609265	CHEK2	604373	7
Liddle syndrome	LIDLS	177200	SCNN1B	600760	14
Liddle syndrome	LIDLS	177200	SCNN1G	600761	14
Limb-mammary syndrome	LMS	604292	TP63	603273	14
Lipodystrophy, congenital generalized, type 2	CGL2	269700	BSCL2	606158	7
Lipodystrophy, familial partial, 2	FPLD2	151660	LMNA	150330	14
Lipodystrophy, familial partial, 3	FPLD3	604367	PPARG	601487	7
Lipoprotein glomerulopathy	LPG	611771	APOE	107741	3
Lissencephaly		247200	YWHAE	605066	21
Lissencephaly 1	LIS1	607432	PAFAH1B1	601545	7
Lissencephaly 2	LIS2	257320	RELN	600514	28
Lissencephaly 3	LIS3	611603	TUBA1A	602529	7
Lissencephaly 5	LIS5	615191	LAMB1	150240	21
Lissencephaly, X-linked 1	LISX1	300067	DCX	300121	7
Lissencephaly, X-linked 2	LISX2	300215	ARX	300382	7
Loeys-Dietz syndrome 1	LDS1	609192	TGFBR1	190181	7
Loeys-Dietz syndrome 2	LDS2	610168	TGFBR2	190182	10
Loeys-Dietz syndrome 3	LDS3	613795	SMAD3	603109	10
Loeys-Dietz syndrome 4	LDS4	614816	TGFB2	190220	7
Long QT syndrome 1	LGT1	192500	KCNQ1	607542	14
Long QT syndrome 2	LQTS2	613688	KCNH2	152427	14
Long QT syndrome 5	LQTS5	613695	KCNE1	176261	7
Long QT syndrome 6	LQTS6	613693	KCNE2	603796	7
Long QT syndrome 9	LQT9	611818	CAV3	601253	7
Long QT syndrome-3	LQT3	603830	SCN5A	600163	7
Lowe syndrome	OCRL	309000	OCRL1	300535	21
Lujan Fryns syndrome		309520	MED12	300188	7
Lymphangioleiomyomatosis	LAM	606690	TSC1	605284	21
Macrocephaly/autism syndrome		605309	PTEN	601728	7
Macrothrombocytopenia and progressive sensorineural deafness		153650	MYH9	160775	21
Macrothrombocytopenia, autosomal dominant, TUBB1-related		613112	TUBB1	612901	7
Macular degeneration, age-related, 3	ARMD3	608895	FBLN5	604580	10
Macular degeneration, X-linked atrophic		300834	RPGR	312610	21
Macular dystrophy, patterned, 1	MDPT1	169150	PRPH2	179605	7
Macular dystrophy, vitelliform, 2	VMD2	153700	BEST1	607854	7
Macular dystrophy, vitelliform, 3	VMD3	608161	PRPH2	179605	7
Malignant hyperthermia susceptibility 1	MHS1	145600	RYR1	180901	14
Malouf syndrome		212112	LMNA	150330	14
Mandibuloacral dysplasia	MADA	248370	LMNA	150330	14
Mandibuloacral dysplasia with type B lipodystrophy	MADB	608612	ZMPSTE24	606480	7
Manitoba oculotrichoanal syndrome	MOTA	248450	FREM1	608944
Maple Syrup Urine Disease Ia	MSUD1A	248600	BCKDHA	608348	7
Maple Syrup Urine Disease Ib	MSUD1B	248600	BCKDHB	248611	10
Maple Syrup Urine Disease II	MSUD2	248600	DBT	248610	10
Marden-Walker syndrome	MWKS	248700	PIEZO2	613629	21
Marfan syndrome	MFS1	154700	FBN1	134797	28
Marinesco-Sjogren Syndrome	MSS	248800	SIL1	608005	7
MASA SYNDROME		303350	L1CAM	308840	18
MASS syndrome		604308	FBN1	134797	28
Maturity Onset Diabetes of the Young	MODY11	613375	BLK	191305
Maturity Onset Diabetes of the Young	MODY08	609812	CEL	114840
Maturity Onset Diabetes of the Young	MODY02	125851	GCK	138079
Maturity Onset Diabetes of the Young	MODY03	600496	HNF1A	142410
Maturity Onset Diabetes of the Young	MODY05	137920	HNF1B	189907
Maturity Onset Diabetes of the Young	MODY01	125850	HNF4A	600281
Maturity Onset Diabetes of the Young	MODY10	613370	INS	176730
Maturity Onset Diabetes of the Young	MODY07	610508	KLF11	603301
Maturity Onset Diabetes of the Young	MODY04	606932	PDX1	600733
Maturity-onset diabetes of the young 6	MODY06	606394	NEUROD1	601724	7
Maturity-onset diabetes of the young, type 13	MODY13	610582	KCNJ11	600937	7
Maturity-onset diabetes of the young, type IX	MODY09	612225	PAX4	167413	7
May-Hegglin Anomaly	MHA	155100	MYH9	160775	21
McArdle Disease (Glycogen storage disease V)	GSD5	232600	PYGM	608455	7
McCune-Albright syndrome	MAS	174800	GNAS	139320	7
McKusick-Kaufman syndrome	MKKS	236700	MKKS	604896	7
Meacham syndrome		608978	WT1	607102	14
Meckel syndrome 1	MKS1	249000	MKS1	609883	14
Medullary cystic kidney disease 2	MCKD2	603860	UMOD	191845	10
Medullary thyroid carcinoma	MTC	155240	RET	164761	18
Medulloblastoma	MDB	155255	BRCA2	600185	21
Megalencephalic Leukoenzephalopathy with subcortical cysts	MLC1	604004	MLC1	605908	10
Melanoma and neural system tumor syndrome		155755	CDKN2A	600160	7
Melanoma, cutaneous malignant, susceptibility to, 8	CMM8	614456	MITF	156845	10
MELAS syndrome		540000	mit		7
Melnick-Needles syndrome	MNS	309350	FLNA	300017	21
Menkes disease	MNK	309400	ATP7A	300011	21
Mental retardation, autosomal dominant 16	MRD16	614609	SMC1L1 (SMC1A)	300040	18
Mental retardation, truncal obesity, retinal dystrophy, and micropenis	MORM	610156	INPP5E	613037	10
Mental retardation, X-linked 19	MRX19	300844	RPS6KA3	300075	21
Mental retardation, X-linked syndromic, Christianson type	MRXSCH	300243	SlC9A6	300231	14
Mental retardation, X-linked syndromic, Lubs type	MRXSL	300260	MECP2	300005	7
Mental retardation, X-linked syndromic, Nascimento type	MRXSN	300860	UBE2A	312180	7
Mental retardation, X-linked, FRAXE type	FRAXE	309548	FMR2	300806	7
Mental retardation, X-linked, syndromic 13	MRXS13	300055	MECP2	300005	7
Mental retardation, X-linked, with isolated growth hormone deficiency		300123	SOX3	313430	7
Metachondromatosis	METCDS	156250	PTPN11	176876	14
Metachromatic leukodystrophy	MLD	250100	ARSA	607574	10
Metatropic dysplasia		156530	TRPV4	605427	14
Methylmalonic aciduria and homocystinuria, cbIC		277400	MMACHC	609831	7
Methylmalonic aciduria and homocystinuria, cbIF		277380	LMBRD1	612625	10
Mevalonic aciduria	MEVA	610377	MVK	251170	10
Microcephaly 1, primary, autosomal recessive	MCPH1	251200	MCPH1	607117	14
Microcephaly 2, primary, autosomal recessive	MCPH2	604317	WDR62	604317	21
Microcephaly 6, primary, autosomal recessive	MCPH6	608393	CENPJ	609279	14
Microphthalmia with coloboma 5	MCOPCB5	611638	SHH	600725	7
Microphthalmia with coloboma 6	MCOPCB6	613703	GDF3	606522	7
Microphthalmia, isolated 5	MCOP5	611040	MFRP	606227	10
Microphthalmia, isolated 7	MCOP7	613704	GDF3	606522	7
Microphthalmia, isolated, with coloboma 10	MCOPCB10	616428	RBP4	180250	7
Microphthalmia, isolated, with coloboma 7	MCOPCB7	614497	ABCB6	605452	21
Microphthalmia, syndromic 11	MCOPS11	614402	VAX1	604294	14
migraine, familial hemiplegic, 1	FHM1	108500	CACNA1A	601011	28
Migraine, familial hemiplegic, 3	FHM3	609634	SCN1A	182389	21
Miller syndrome	POADS	263750	DHODH	126064	7
Miller-Dieker syndrome	MDLS	247200	17p13.3		7
Mismatch repair cancer syndrome	HNPCC2	276300	MLH1	120436	14
Mismatch repair cancer syndrome	MMRCS	276300	MSH2	609309	14
Mismatch repair cancer syndrome	MMRCS	276300	PMS2	600259	14
Mismatch repair cancer syndrome	MMRCS	608089	MSH6	600678	14
Mitochondrial complex IV deficiency		220110	COX10	602125	14
Mitochondrial DNA depletion syndrome 4A (Alpers type)	MTDPS4A	203700	POLG	174763	18
Mitochondrial DNA depletion syndrome 4B (MNGIE type)	MTDPS4B	203700	POLG	174763	18
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	MTDPS5	612073	SUCLA2	603921	10
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	MTDPS7	271245	C10ORF2	606075	7
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)	SANDO	607459	POLG	174763	18
Miyoshi muscular dystrophy 1	MMD1	254130	DYSF	603009	25
Miyoshi muscular dystrophy 3	MMD3	613319	ANO5	608662	21
Mowat-Wilson	MOWS	235730	ZEB2	605802	7
Moyamoya disease 5	MYMY5	614042	ACTA2	102620	7
Muckle-Wells Syndrome	MWS	191900	NLRP3	606416	14
Mucopolysaccharidosis Ih	MPS1-H	607015	IDUA	252800	10
Mucopolysaccharidosis Ih/s	MPS1-HS	607015	IDUA	252800	10
Mucopolysaccharidosis IIIB	MPS3B	252920	NAGLU	609701	10
Mucopolysaccharidosis Is	MPS1-S	607016	IDUA	252800	10
Mucopolysaccharidosis IVA	MPS4A	253000	GALNS	612222	14
Mucopolysaccharidosis type IVB (Morquio)	MPS4B	253010	GLB1	611458	14
Muenke syndrome	MNKES	602849	FGFR3	134934	18
Muir-Torre syndrome	MRTES	158320	MLH1	120436	14
Muir-Torre syndrome	MRTES	158320	MSH2	609309	14
Mulibrey nanism		605073	TRIM37	605073	18
Mullerian aplasia and hyperandrogenism		158330	WNT4	603490	7
Multiple endocrine Neoplasia 1	MEN1	131100	MEN1	613733	7
Multiple endocrine Neoplasia 2A	MEN2A	171400	RET	164761	18
Multiple endocrine Neoplasia 2B	MEN2B	162300	RET	164761	18
Multiple endocrine neoplasia, type IV	MEN4	610755	CDKN1B	600778
Multiple pterygium syndrome, lethal type	LMPS	253290	CHRNA1	100690	7
Multiple synostosis syndrome 1	SYNS1	186500	NOG	602991	7
Multiples Pterygium syndrome	EVMPS	265000	CHRNG	100730	10
Multisystemic smooth muscle dysfunction syndrome		613834	ACTA2	102620	7
Muscular dystrophy / dystroglycanopathy A1	MDDGA1	236670	POMT1	607423	14
Muscular dystrophy / dystroglycanopathy A3	MDDGA3	253280	POMGNT1	606822	14
Muscular dystrophy / dystroglycanopathy B1	MDDGB1	613155	POMT1	607423	14
Muscular dystrophy / dystroglycanopathy B3	MDDGB3	613151	FKRP	606596	7
Muscular dystrophy / dystroglycanopathy B3	MDDGB3	613151	POMGNT1	606822	14
Muscular dystrophy / dystroglycanopathy C3	MDDGC3	613157	POMGNT1	606822	14
Muscular dystrophy Becker	BMD	300376	DMD	300377	28
Muscular dystrophy Duchenne	DMD	310200	DMD	300377	28
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	MDDGA2	613150	POMT2	607439	21
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	MDDGA4	253800	FKTN	607440	10
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5	MDDGA5	613153	FKRP	606596	7
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2	LGMD2N	613158	POMT2	607439	21
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3	MDDGB3	613151	POMGNT1	606822	14
Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5	MDDGB5	606612	FKRP	606596	7
Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4	MDDGB4	613152	FKTN	607440
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2	LGMD2N	613158	POMT2	607439	21
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4	MDDGC4	611588	FKTN	607440
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	MDDGC5	607155	FKRP	606596	7
Muscular dystrophy, congenital	MDCL	613205	LMNA	150330	14
Muscular dystrophy, limb-girdle 1A	LGMD1A	159000	MYOT	604103	10
Muscular dystrophy, limb-girdle 1B	LGMD1B	159001	LMNA	150330	14
Muscular dystrophy, limb-girdle 1C	LGMD1C	607801	CAV3	601253	7
Muscular dystrophy, limb-girdle 2A	LGMD2A	253600	CAPN3	114240	21
Muscular dystrophy, limb-girdle 2B	LGMD2B	253601	DYSF	603009	25
Muscular dystrophy, limb-girdle 2C	LGMD2C	253700	SGCG	608896	7
Muscular dystrophy, limb-girdle 2D	LGMD2D	608099	SGCA	600119	7
Muscular dystrophy, limb-girdle 2E	LGMD2E	604286	SGCB	600900	7
Muscular dystrophy, limb-girdle 2F	LGMD2F	601287	SGCD	601411	7
Muscular dystrophy, limb-girdle 2G	LGMD2G	601954	TCAP	604488	7
Muscular dystrophy, limb-girdle 2K	LGMD2K	609308	POMT1	607423	14
Muscular dystrophy, limb-girdle, type 2L	LGMD2L	611307	ANO5	608662	21
Myasthenia gravis, neonatal transient	EVMPS	265000	CHRNG	100730	10
Myasthenic syndrome, acetazolamide-responsive	CMS16	614198	SCN4A	603967	7
Myasthenic syndrome, asso. with episodic apnea	CMS1A2	254210	CHAT	118490	14
Myasthenic syndrome, congenital, 10	CMS10	254300	DOK7	610285	7
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	CMS11	616326	RAPSN	601592	7
Myasthenic syndrome, congenital, 1A, slow-channel	CMS1A	601462	CHRNA1	100690	7
Myasthenic syndrome, congenital, 1B, fast-channel	CMS1B	608930	CHRNA1	100690	7
Myasthenic syndrome, congenital, 4A, slow-channel	CMS4A	605809	CHRNE	100725	7
Myasthenic syndrome, congenital, 4B, fast-channel	CMS4B	616324	CHRNE	100725	7
Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	CMS4C	608931	CHRNE	100725	7
Myocarinfarctiondial	MCI1	608446	ITGB3	173470	3
Myoclonic epilepsy with red ragged fibers	MERRF	545000	MTTK	590060	7
Myoclonic epilepsy, juvenile, susceptibility to, 1	EJM1	254770	EFHC1	608815	10
Myoglobinuria, acute recurrent, autosomal recessive	ARARM	268200	LPIN1	605518	14
Myopathy due to CPT II deficiency		255110	CPT2	600650	10
Myopathy due to myoadenylate deaminase deficiency	MMDD	102770	AMPD1	102770	18
Myopathy, centronuclear	CNM1	160150	DNM2	602378
Myopathy, distal, Tateyama type	MPDT	614321	CAV3	601253	7
Myopathy, distal, with anterior tibial onset	DMAT	606768	DYSF	603009	21
Myotonic dystrophy I	DM1	160900	DMPK	605377	7
Myxoma, intracardiac		255960	PRKAR1A	188830	7
Nail-patella syndrome	NPS	161200	LMX1B	602575
Nanophthalmos 2	NNO2	609549	MFRP	606227	10
Nemaline myopathy 4	NEM4	609285	TPM2	190990	7
Nephrogenic syndrome of inappropriate antidiuresis	NSIAD	300539	AVPR2	300538
Nephrotic syndrome, type 1	NPHS1	256300	NPHS1	602716	21
Nephrotic syndrome, type 4	NPHS4	256370	WT1	607102	10
Neural tube defects	NTD	182940	VANGL1	610132	7
Neural tube defects, susceptibility to	NTDFS	236250	MTHFR	607093	3
Neuroaxonal dystrophy, infantile 1	INAD1	256600	PLA2G6	603604	14
Neurodegeneration with brain iron accumulation 1	NBIA1	234200	PANK2	606157	7
Neurodegeneration with brain iron accumulation 4	NBIA4	614298	C19orf12	614297	7
Neurofibromatosis I	NF1	162200	NF1	613113	21
Neuropathy, congenital hypomyelinating	CHN	605253	EGR2	129010	7
Neuropathy, distal hereditary motor, type IIA	HMN2A	158590	HSPB8	608014	7
Neuropathy, distal hereditary motor, type IIB	HMN2B	608634	HSPB1	602195	2
Neuropathy, distal hereditary motor, type VA	HMN5A	600794	BSCL2	606158	7
Neuropathy, distal hereditary motor, type VA	HMN5A	600794	GARS	600287	14
Neuropathy, distal hereditary motor, type VIIB	HMN7B	607641	DCTN1	601143	21
Neuropathy, hereditare sensory and autonomic II	HSAN2	201300	WNK1	605232	7
Neuropathy, hereditary sensory and autonomic I	HSAN1A	162400	SPTLC1	605712	7
Neuropathy, hereditary sensory and autonomic, type VII	HSAN7	615548	SCN11A	604385	21
Neuropathy, hereditary sensory, type ID	HSANID	182600	SPG3A	606439	14
Neuropathy, hereditary, with or without age-related macular degeneration	HNARMD	608895	FBLN5	604580	10
Neuropathy, inflammatory demyelinating	AIDP	139393	PMP22	601097	7
Neutropenia, severe congenital	SCNX	300299	WAS	300392	10
Niemann Pick disease C1/D	NPC1	257220	NPC1	607623	21
Nijmegen breakage syndrome	NBS	251260	NBN	602667	7
Noonan syndrome 1	NS1	163950	PTPN11	176876	14
Noonan syndrome 3	NS3	609942	KRAS	190070	7
Noonan syndrome 4	NS4	610733	SOS1	182530	21
Noonan syndrome 5	NS5	611553	RAF1	164760	14
Noonan syndrome 6	NS6	613224	NRAS	164790	7
Noonan syndrome 7	NS7	613706	BRAF	164757	14
Norrie disease	ND	310600	NDP	300658	7
Obesity with impaired prohormone processing		600955	PCSK1	162150	14
Obesity, adrenal insufficiency, and red hair due to POMC deficiency		609734	POMC	176830	7
Obesity, autosomal dominant		601665	MC4R	155541	7
Obesity, early-onset, susceptibility to	OBESITY	601665	POMC	176830	7
Obesity, morbid, due to leptin deficiency	LEPD	601665	LEP	164160	7
Obesity, morbid, due to leptin receptor deficiency		601007	LEPR	601007	14
Obesity, severe		601665	PPARG	601487	7
Obesity, severe, and type II diabetes		601665	UCP3	602044	7
Obesity, severe, susceptibility to,		601665	CARTPT	602606	7
Obesity, severe, susceptibility to, BMIQ9	BMIQ9	602025	MC3R	155540	7
Obesity, susceptibility to, BMIQ12	BMIQ12	600955	PCSK1	162150	14
Obesity, susceptibility to, BMIQ4	BMIQ4	607447	UCP2	601693	7
Occipital horn syndrome	OHS	304150	ATP7A	300011	21
Ocular albinism type 1, Ocular albinism X-Linked	OA1	300500	GPR143	300500	7
Oculodentodigital dysplasia	ODDD	164200	GJA1	121014	7
Oculopharyngeal muscular dystrophy	OPMD	164300	PABPN1	602279	7
Odontoonychodermal dysplasia	OODD	257980	WNT10A	606268	7
Ohdo syndrome, X-linked	OHDOX	300895	MED12	300188	7
Oligodontia-colorectal cancer syndrome	ODCRCS	608615	AXIN2	604025	14
Ophthalmoplegia, progressive external 1	PEOA1	157640	POLG	174763	18
Opitz GBBB syndrome	GBBB1	300000	MID1	300552	7
Opitz-Kaveggia syndrome	OKS	305450	MED12	300188	7
Optic atrophy 3 with cataract	OPA3	165300	OPA3	606580	7
Optic atrophy 7 (OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY; OPA7)	OPA7	612989	TMEM126A	612988	7
Optic atrophy 9	OPA9	616289	ACO2	100850	14
Optic atrophy plus syndrome	DOA+	125250	OPA1	605290	21
Optic nerve hypoplasia		165550	PAX6	607108	14
Orofacial cleft 5	OFC5	608874	MSX1	142983	7
Orofacial cleft 6	OFC6	608864	IRF6	607199	7
Orofaciodigital syndrome I	OFD1	311200	OFD1	300170
Osseous heteroplasia, progressive	POH	166350	GNAS	139320	18
Osteoarthritis with mild chondrodysplasia		604864	COL2A1	120140	25
Osteochondromas, multiple 2	EXT2	133701	EXT2	608210	14
Osteogenesis imperfecta I	OI1	166200	COL1A1	120150	21
Osteogenesis imperfecta II	OI2	166210	COL1A1	120150	21
Osteogenesis imperfecta II	OI2	166210	COL1A2	120160	21
Osteogenesis imperfecta III	OI3	259420	COL1A1	120150	21
Osteogenesis imperfecta III	OI3	259420	COL1A2	120160	21
Osteogenesis imperfecta IV	OI4	166220	COL1A1	120150	21
Osteogenesis imperfecta IV	OI4	166220	COL1A2	120160	21
Osteoglophonic dysplasia	OGD	166250	FGFR1	136350	14
Osteopetrosis, autosomal dominant 1	OPTA1	607634	LRP5	603506	21
Osteoporosis-pseudoglioma syndrome	OPPG	259770	LRP5	603506	21
Osteoses, multiple 1	EXT1	133700	EXT1	608177	14
Otofaciocervical syndrome	OFC1	166780	EYA1	601653	10
Otopalatodigital syndrome, type I	OPD1	311300	FLNA	300017	21
Otopalatodigital syndrome, type II	OPD2	304120	FLNA	300017	21
Otospondylomegaepiphyseal dysplasia	OSMED	215150	COL2A1	120140	25
Palmoplantar keratoderma with congenital alopecia	ODDD	104100	GJA1	121014	7
Palmoplantar keratoderma, epidermolytic	EPPK	607654	KRT1	139350	10
Palmoplantar keratoderma, nonepidermolytic	NEPPK	600962	KRT1	139350	10
Pancreatic agenesis	PAGEN	260370	PDX1	600733	7
Pancreatic cancer 2	PNCA2	613347	BRCA2	600185	21
Pancreatic cancer, susceptibility to, 3	PNCA3	613348	PALB2	610355	14
Pancreatic cancer, susceptibility to, 4	PNCA4	614320	BRCA1	113705	21
Pancreatic cancer/melanoma syndrome	FAMMMPC	606719	CDKN2A	600160	7
Pancreatitis	PCTT	167800	CPA1	114850	10
Pancreatitis	PCTT	167800	CTRC	601405	7
Pancreatitis	PCTT	167800	CTRL	118888	7
Pancreatitis	PCTT	167800	PRSS1	276000	7
Pancreatitis	PCTT	167800	SPINK1	167790	7
Panhypopituitarism, X-linked	PHPX	312000	SOX3	313430	7
Panic disorder, susceptibility to	PAND1	167870	COMT	116790	7
Paraganglioma and gastric stromal sarcoma		606864	SDHB	185470	7
Paraganglioma and gastric stromal sarcoma		606864	SDHC	602413	7
Paragangliomas 3	PGL3	605373	SDHC	602413	7
Paragangliomas 4	PGL4	115310	SDHB	185470	7
Paramyotonia congenita	PMC	168300	SCN4A	603967	21
Parastremmatic dwarfism		168400	TRPV4	605427	14
Parkinson disease 14	PARK14	612953	PLA2G6	603604	18
Parkinson disease 2	PARK2	600116	PARK2	602544	10
Parkinson disease 8	PARK8	607060	LRRK2	609007	7
Parkinson disease, susceptibility to	PD	168600	MAPT	157140	7
Paroxysmal extreme pain disorder	PEXPD	167400	SCN9A	603415	21
Paroxysmal nonkinesigenic dyskinesia	PNKD1	118800	PNKD1	609023	10
Partington syndrome	PRTS	309510	ARX	300382	7
Pelizaeus Merzbacher disease	PMD	312080	PLP1	300401	7
Pendred syndrome	PDS	274600	SLC26A4	605646	14
Periodic Fever, familial, autosomal-dominant	TRAPS	142680	TNFRSF1A	191190	10
Peripheral neuropathy, myopathy, hoarseness, and hearing loss	PNMHH	614369	MYH14	608568	7
Peroxisome biogenesis disorder 1A (Zellweger)	PBD1A	214100	PEX1	602136	7
Peroxisome biogenesis disorder 1B	PBD1B	601539	PEX1	602136	7
Peroxisome biogenesis disorder 3A (Zellweger syndrome)	PBD3A	614859	PEX12	601758	7
Peroxisome biogenesis disorder 3B	PBD3B	266510	PEX12	601758	7
Peroxisome biogenesis disorder 9B	PBD9B	614879	PEX7	601757	10
Perrault syndrome 5	PRLTS5	616138	C10ORF2	606075	7
Perry Syndome		168605	DCTN1	601143	21
Persistent Mullerian duct syndrome, type I	PMDS	261550	AMH	600957	7
Persistent Mullerian duct syndrome, type II	PMDS	261550	AMHR2	600956	0
Peters anomaly		604229	CYP1B1	601771	7
Peters anomaly		604229	PAX6	607108	7
Peters anomaly		604229	PITX2	601542	7
Peters anomaly		604229	PITX2	601542	7
Peters-plus syndrome		261540	B3GALTL	610308	14
Peutz-Jeghers syndrome	PJS	175200	STK11	602216	7
Pfeiffer syndrome		101600	FGFR1	136350	14
Pheochromocytoma		171300	GDNF	600837	7
Pheochromocytoma		171300	MAX	154950	7
Pheochromocytoma		171300	RET	164761	18
Pheochromocytoma		171300	SDHA	600857	10
Pheochromocytoma		171300	SDHB	185470	7
Pheochromocytoma		171300	SDHC	602413	7
Pheochromocytoma		171300	TMEM127	613403	7
Pheochromocytoma		171300	VHL	608537	7
Pick disease		172700	MAPT	157140	7
Pick disease		172700	PSEN1	104311	10
PIEBALDISM	PBT	172800	KIT	164920
PIEBALDISM	PBT	172800	SNAI2	602150	7
Pigmented nodular adrenocortical disease, primary, 1	PPNAD1	610489	PRKAR1A	188830	7
Pitt-Hopkins syndrome	PTHs	610954	TCF4	602272	18
Pituitary hormone deficiency, combined 5	CPHD5	182230	HESX1	601802	7
Pituitary hormone deficiency, combined, 1	CPHD1	613038	POU1F1	173110	7
Pituitary hormone deficiency, combined, 2	CPHD2	262600	PROP1	601538	7
Pituitary hormone deficiency, combined, 4	CPHD4	262700	LHX4	602146	7
Plasminogen activator inhibitor-1 deficiency	PAI1	173360	SERPINE1	173360	7
Platyspondylic skeletal dysplasia, Torrance type	PLSDT	151210	COL2A1	120140	25
Polyglucosan body disease, adult form	APBD	263570	GBE1	607839	14
Polymicrogyria, bilateral frontoparietal		606854	GPR54	604110	7
Polymicrogyria, bilateral occipital		612691	FIG4	609390	18
Pontocerebellar hypoplasia type 2A	PCH2A	277470	TSEN54	608755	14
Pontocerebellar hypoplasia type 4	PCH4	225753	TSEN54	608755	14
Pontocerebellar hypoplasia type 5	PCH5	610204	TSEN54	608755	14
Pontocerebellar hypoplasia, type 1A	PCH1A	607596	VRK1	602168	10
Pontocerebellar hypoplasia, type 1B	PCH1B	614678	EXOSC3	606489	7
Porokeratosis 3, disseminated superficial actinic	POROK3	175900	MVK	251170	10
Porphyria, acute hepatic	ALAD-Porphyrie	612740	ALAD	125270	7
Porphyria, acute intermittent	AIP	176000	HMBS	609806	10
Porphyria, congenital erythropoietic	CEP	263700	UROS	606938	7
Prader-Willi syndrome	PWS	176270	15q11-q13		7
Pregnancy loss, recurrent, susceptibility to, 2	RPRGL2	614390	F2	176930	10
Premature ovarian failure 1	POF1	311360	FMR1	309550	7
Premature ovarian failure 3	POF3	608996	FOXL2	605597	7
Premature ovarian failure 7	POF7	612964	NR5A1	184757	7
Primary lateral sclerosis, juvenile	PLSJ	606353	ALS2	606352	21
Prion disease with protracted course		606688	PRNP	176640	7
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	PEOA3	609286	C10ORF2	606075	7
Progressive external ophthalmoplegia, autosomal recessive 1	PEOB1	258450	POLG	174763	18
Progressive pseudorheumatoid arthropathy of childhood	PPAC	208230	WISP3	603400	7
Propionicacidemia		606054	PCCA	232000	18
Propionicacidemia		606054	PCCB	232050	14
Prostate cancer	PNCA2	176807	BRCA2	600185	21
Protoporphyria variegata	VP	176200	PPOX	600923	10
Protoporphyria, erythropoietic, X-linked	EPP	300752	ALAS2	301300	10
Proud syndrome		300004	ARX	300382	7
Pseudoachondroplasia	PSACH	177170	COMP	600310	14
Pseudohyperkalemia, familial, 2, due to red cell leak	PSHK2	609153	ABCB6	605452	21
Pseudohypoaldosteronism type I, autosomal dominant	PHA1A	177735	NR3C2	600983	10
Pseudohypoaldosteronism type IIB	PHA2B	614491	WNK4	601844	18
Pseudohypoaldosteronism, Type 1, autosomal recessive	PHA1B	264350	SCNN1A	600228	14
Pseudohypoaldosteronism, Type 1, autosomal recessive	PHA1B	264350	SCNN1B	600760	14
Pseudohypoaldosteronism, Type 1, autosomal recessive	PHA1B	264350	SCNN1G	600761	14
Pseudohypoaldosteronism, type IIC	PHA2C	614492	WNK1	605232	7
Pseudohypoaldosteronism, type IID	PHA, IID	614495	KLHL3	614495	14
Pseudohypoaldosteronism, type IIE	PHAIIE	614496	CUL3	603136	14
Pseudohypoparathyroidism Ia	PHP1A	103580	GNAS	139320	18
Pseudohypoparathyroidism Ib	PHP1B	603233	GNAS	139320	18
Pseudohypoparathyroidism Ic	PHP1C	612462	GNAS	139320	18
Pseudopseudohypoparathyroidism	PPHP	612463	GNAS	139320	18
Pyridoxamine-5′-Phospahte Oxidase Deficiency	PNPO	610090	PNPO	603287	7
Rapp-Hodgkin syndrome		129400	TP63	603273	14
Refsum disease		266500	PHYH	602026	7
Renal agenesis	RHDA1	191830	RET	164761	18
Renal cysts and diabetes syndrome	RCAD	137920	HNF1B	189907	7
Renal glucosuria	GLYS	233100	SLC5A2	182381	14
Renal tubular acidosis, distal, AR	RTA	611590	SLC4A1	109270	18
Restrictive dermopathy, lethal		275210	LMNA	150330	14
Retinitis pigmentosa 1	RP1	180100	RP1	603937	14
Retinitis pigmentosa 13	RP13	600059	PRPF8	607300	18
Retinitis pigmentosa 18	RP18	601414	HPRP3	607301	10
Retinitis pigmentosa 23	RP23	300424	OFD1	300170
Retinitis pigmentosa 3	RP3	300029	RPGR	312610	21
Retinitis pigmentosa 37	RP37	611131	NR2E3	604485	7
Retinitis pigmentosa 4, autosomal dominant or recessive	RP4	613731	RHO	180380	7
Retinitis pigmentosa 68	RP68	615725	SLC7A14	615720	7
Retinitis pigmentosa 7	RP7	600132	PRPH2	179605	7
Retinitis pigmentosa 74	RP74	616562	BBS2	606151	14
Retinitis pigmentosa-50	RP50	613194	BEST1	607854	10
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness		300455	RPGR	312610	21
Retinitis punctata albescens		136880	PRPH2	179605	7
Retinitis punctata albescens		136880	RHO	180380	7
Retinol dystrophy, iris coloboma, and comedogenic acne syndrome	RDCCAS	615147	RBP4	180250	7
Retinoschisis1, X-linked, juvenile	RS1	312700	RS1	300839	7
Rett syndrome	RTT	312750	MECP2	300005	7
Rhabdoid tumor predisposition syndrome 2	RTPS2	613325	SMARCA4	603254	21
Rhizomelic chondrodysplasia punctata, type 2	GNPAT	222765	GNPAT	602744	14
Rickets, vitamin D-resistant IIA	VDDR2A	277440	VDR	601769	10
Rippling muscle disease	RMD	606072	CAV3	601253	7
Robinow syndrome	RRS	268310	ROR2	602337	10
Roussy-Levy syndrome		180800	MPZ	159440	7
Roussy-Levy syndrome		180800	PMP22	601097	7
Rubinstein-Taybi syndrome	RSTS1	180849	CREBBP	600140	21
Rubinstein-Taybi syndrome 2	RSTS2	613684	EP300	602700	21
SADDAN	SADDAN	616482	FGFR3	134934	14
Saethre-Chotzen syndrome	SCS	101400	FGFR2	176943	14
Sandhoff disease, infantile, juvenile, and adult forms	OS	268800	HEXB	606873	14
Scaphocephaly, maxillary retrusion, and mental retardation		609579	FGFR2	176943	14
Scapuloperoneal spinal muscular atrophy	SPSMA	181405	TRPV4	605427	14
Schaaf-Yang syndrome	SHFYNG	615547	MAGEL2	605283	10
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic	SFM	163200	HRAS	190020	7
Schizencephaly		269160	EMX2	600035	7
Schizencephaly		269160	SHH	600725	7
Schizencephaly		269160	SIX3	603714	7
Schizophrenia, susceptibility to	SCZD	181500	COMT	116790	7
Schopf-Schulz-Passarge syndrome	SSPS	224750	WNT10A	606268	7
Schwannomatosis		162091	NF2	607379	21
Sebastian syndrome	SBS	605249	MYH9	160775	21
Seckel syndrome 4	SCKL4	613676	CENPJ	609279	21
SED congenita	SEDC	183900	COL2A1	120140	25
Segawa syndrome, recessive		605407	TH	191290	10
Seizures, benign familial infantile 2	BIFS2	605751	PRRT2	614386	7
Seizures, benign familial infantile 3	BFIS3	607745	SCN2A	182390	21
Seizures, benign neonatal, type 2	BFNS2	121201	KCNQ3	602232	14
Seizures, scoliosis, and macrocephaly syndrome	SSMS	616682	EXT2	608210	14
Septooptic Dysplasia	SOD	182230	HESX1	601802	7
SERKAL syndrome		158330	WNT4	603490	7
Short QT syndrome 2	SQT2	609621	KCNQ1	607542	14
Short QT syndrome 3	SQT3	609622	KCNJ2	600681	7
Short QT syndrome-1	SQT1	609620	KCNH2	152427	14
Short stature, idiopathic familial	ISS	300582	SHOX/SHOY	312865	7
Sick sinus syndrome 1	SSS1	608567	SCN5A	600163	7
Sickle cell anemia		603903	HBB	141900	7
Silver spastic paraplegia syndrome	SPG17	270685	BSCL2	606158	7
Simpson-Golabi-Behmel syndrome	SGBS1	312870	GPC3	300037	10
Simpson-Golabi-Behmel syndrome	SGBS1	312870	GPC3	300037	7
Simpson-Golabi-Behmel syndrome, type 2	SGBS2	300209	OFD1	300170
SMED Strudwick type	SEMDSTWK	184250	COL2A1	120140	25
Smith-Lemli-Opitz syndrome	SLOS	270400	DHCR7	602858	7
Smith-Magenis syndrome	SMS	182290	RAI1	606586	14
Sneddon syndrome		182410	CECR1	607575	14
Sotos syndrome	SOTOS1	117550	NSD1	606681	21
Sotos syndrome	SOTOS1	117550	NSD1	606681	7
SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE	SACS	270550	SACS	604490	7
Spastic paralysis, infantile onset ascending	IAHSP	607225	ALS2	606352	21
Spastic paraplegia 11, autosomal recessive	SPG11	604360	SPG11	610844	21
Spastic Paraplegia 2	SPG2	312920	PLP1	300401	7
Spastic Paraplegia 3A	SPG3A	182600	SPG3A	606439	14
Spastic Paraplegia 4	SPG4	182601	SPG4	604277	18
Spastic paraplegia 43, autosomal recessive	SPG43	615043	C19orf12	614297	7
Spastic paraplegia 7, autosomal recessive	SPG7	607259	SPG7	602783	14
Spastic paraplegia type 31	SPG31	610250	REEP1	609139	7
Spermatogenic failure 8	SPGF8	612965	NR5A1	184757	7
Spermatogenic failure, nonobstructive, Y-linked	SPGFY2	415000	AZF	415000	7
Spherocytosis, 4	SPH4	612653	SLC4A1	109270	14
Spherocytosis, type 1	SPH1	182900	ANK1	612641	21
Spina bifida	NTD	182940	VANGL2	600533	7
SpIna muscular atrophy 1-3	SMA 1-3	253300	SMN1	600354	7
Spina muscular atrophy, late-onset, Finkel type		605704	VAPB	605704	7
Spinal and bulbar muscular atrophy	SBMA	313200	AR	313700	7
Spinal muscular atrophy 1-3	SMA 1-3	253300	SMN1	600354	7
Spinal muscular atrophy, distal, congenital nonprogressive	HMN8	313200	TRPV4	605427	14
Spinal Muscular Atrophy, distal, X-linked 3	SMAX3	300489	ATP7A	300011	21
Spinocerebellar Ataxia 01	SCA1	164400	ATXN1	601556	7
Spinocerebellar Ataxia 02	SCA2	183090	ATXN2	601517	7
Spinocerebellar Ataxia 03	SCA3 / MJD	109150	ATXN3	607047	7
Spinocerebellar Ataxia 05	SCA5	600224	SPTBN2	604985	7
Spinocerebellar Ataxia 06	SCA6	183086	CACNA1A	601011	7
Spinocerebellar Ataxia 07	SCA7	164500	ATXN7	607640	7
Spinocerebellar Ataxia 08	SCA8	608768	ATXN8OS	603680	7
Spinocerebellar Ataxia 10	SCA10	603516	ATXN10	611150	7
Spinocerebellar Ataxia 11	SCA11	604432	TTBK2	611695	7
Spinocerebellar Ataxia 12	SCA12	604326	PPP2R2B	604325	7
Spinocerebellar Ataxia 13	SCA13	605259	KCNC3	176264	7
Spinocerebellar Ataxia 14	SCA14	605361	PRKCG	176980	7
Spinocerebellar Ataxia 14	SCA14	605361	PRKCG	176980	14
Spinocerebellar Ataxia 15	SCA15	606658	ITPR1	147265	7
Spinocerebellar Ataxia 17	SCA17	607136	TBP	600075	7
Spinocerebellar ataxia 19	SCA19, SCA22	607346	KCND3	605411	10
Spinocerebellar Ataxia 23	SCA23	610245	PDYN	131340	7
Spinocerebellar Ataxia 27	SCA27	609307	FGF14	601515	7
Spinocerebellar Ataxia 28	SCA28	610246	AFG3L2	604581	7
Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive	SCAN1	607250	TDP1	607198	7
Spinocerebellar Ataxia, autosomal recessive 1	SCAR1	606002	SETX	608465	21
Spinocerebellar ataxia, autosomal recessive 10	SCAR10	613728	ANO10	613726	7
Spinocerebellar ataxia, autosomal recessive 14	SCAR14	615386	SPTBN2	604985
Spinocerebellar ataxia, autosomal recessive 7	SCAR7	609270	TPP1	607998	10
Spondylocarpotarsal synostosis syndrome	SCT	272460	FLNB	603381	25
Spondyloepimetaphyseal dysplasia	SEMD	608728	MATN3	602109	7
Spondyloepiphyseal dyspalsia, Maroteaux type	SED	184095	TRPV4	605427	14
Spondyloepiphyseal dysplasia with congenital joint dislocation		143095	CHST3	603799	7
Spondylometaphyseal dysplasia, Kozlowski type	SMDK	184252	TRPV4	605427	14
Spondyloperipheral dysplasia	SEMDSTWK	271700	COL2A1	120140	25
Stapes ankylosis with broad thumb and toes		184460	NOG	602991	7
Stickler syndrome, type I		108300	COL2A1	120140	2
Stickler syndrome, type I, nonsyndromic ocular		609508	COL2A1	120140	25
Stickler syndrome, type IV	STL4	614134	COL9A1	120210	7
Stickler syndrome, type V	STL5	614284	COL9A2	120260	7
Stiff skin syndrome	SSKS	184900	FBN1	134797	28
Stomatin-deficient cryohydrocytosis with neurologic defects	SDCHCN	608885	SLC2A1	138140	10
Stroke, ischemic, susceptibility to		601367	F2	176930	10
Stroke, ischemic, susceptibility to		601367	F5	612309	3
Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome	STWS	601559	LIFR	151443	18
Subcortical laminal heteropia, X-linked	SCLH	300067	DCX	300121	7
Succinic semialdehyde dehydrogenase deficiency	SSADHD	271980	ALDH5A1	610045	10
Sudden infant death syndrome, susceptibility to	SIDS	272120	SCN5A	600163	21
Supranuclear palsy, progressive	PSNP1	601104	MAPT	157140	7
Supranuclear palsy, progressive atypical		172700	MAPT	157140	7
Susceptibility to Breast and Colorectal Cancer		114480	CHEK2	604373	7
Symphalangism, proximal	SYM1	185800	NOG	602991	7
Syndactyly, type III	SDTY3	186100	GJA1	121014	7
Syndactyly, type V	BDD	186300	HOXD13	142989	7
Synpolydactyly, type II	SPD1	186000	HOXD13	142989	7
Tarsal-carpal coalition syndrome	TCC	186570	NOG	602991	7
Tay-Sachs syndrome	TSD	272800	HEXA	606869	14
Telangiectasia, hereditary hemorrhagic, type 1	HHT1	187300	ENG	131195	14
Telangiectasia, hereditary hemorrhagic, type 2	HHT2	600376	ACVRL1	601284	7
Terminal osseous dysplasia	TOD	300244	FLNA	300017	21
Tetralogy of Fallot	TOF	187500	JAG1	601920	21
Thanatophoric dysplasia, type I	TD1	187600	FGFR3	134934	18
Thanatophoric dysplasia, type II	TD2	187601	FGFR3	134934	18
Thiopurin S-Methyltransferase deficiency		610460	TPMT	187680	3
Thrombocythemia 3	THCYT3	614521	JAK2	147796	21
Thrombocytopenia 1	THC1	313900	WAS	300392	10
Thrombocytopenia 4	THC4	612004	CYCS	123970	7
Thrombocytopenia with beta-thalassemia, X-linked	XLTT	314050	GATA1	305371	7
Thrombocytopenia-2	THC2	188000	MASTL	608221	10
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	XLTDA	300367	GATA1	305371	7
Thromboembolism, susceptibility to	THPH1	188050	MTHFR	607093	3
Thrombophilia due to thrombin defect	THPH1	188050	F2	176930	10
Thrombophilia, susceptibility to, due to factor V Leiden	THPH2	188055	F5	612309	7
Thyroid Dyshomogenesis	TDH1	274400	SLC5A5	601843	21
Thyroid dyshormonogenesis 2A	TDH2A	606765	TPO	274500	14
Thyroid hormone resistance	PRTH, GRTH	188570	THRB	190160	7
Thyroid hormone resistance, autosomal recessive		274300	THRB	190160	7
Thyroid hormone resistance, selective pituitary		145650	THRB	190160	7
Tooth agenesis, selective, 1	STHAG1	106600	MSX1	142983	7
Tooth agenesis, selective, 3	STHAG3	604625	PAX9	167416	7
Tooth agenesis, selective, 4	STHAG4	150400	WNT10A	606268	7
Tooth agenesis, selective, X-linked 1	STHAGX1	313500	EDA	300451	10
Townes-Brokes syndrome	TBS	107480	SALL1	602218	10
Treacher Collins-Franceschatti syndrome	TCS1	154500	TCOF1	606847	18
TREMOR, HEREDITARY ESSENTIAL, 1; ETM1		190300	LRRN6A (LINGO1)	609791
Tremor, hereditary essential, 4	ETM4	614782	FUS	137070	14
Trichorhinophalangeal syndrome, type I	TRPS1	190350	TRPS1	604386	14
Trichorhinophalangeal syndrome, type III	TRPS3	190651	TRPS1	604386	14
Trichotillomania	TTM	613229	SLITRK1	609678	0
Trigonocephaly 1	TRIGNO1	190400	FGFR1	136350	14
Trigonocephaly 2	TRIGNO2	614485	FREM1	608944
Trimethylaminuria	TMAU	602079	FMO3	136132	7
Tropical calcific pancreatitis	TCP	608189	SPINK1	167790	7
Troyer syndrome	SPG20	275900	SPG20	607111	14
Tuberous sclerosis 1	TSC1	191100	TSC1	605284	21
Tuberous sclerosis 2	TSC2	191100	TSC2	191092	21
Tumoral calcinosis, hyperphosphatemic, familial	HFTC	211900	FGF23	605380	7
Ulna and fibula, absence of, with sever limb deficiency		276820	WNT7A	601570	7
Ulnar-Mammary Syndrom	UMS	181450	TBX3	601621	10
Usher Syndrome 1B	USH1	276900	MYO7A	276903	21
UV-sensitive syndrome 1	UVSS1	133540	ERCC6	609413	21
UV-sensitive syndrome 2	UVSS2	614621	ERCC8	609412	10
van Buchem disease, type 2	VBCH2	607636	LRP5	603506	18
Van Den Ende-Gupta syndrome – VDEGS	VDEGS	600920	SCARF2	613619	10
van der Woude syndrome	VWS	119300	IRF6	607199	7
Vasculopathy, retinal, with cerebral leukodystrophy	RVCL	192315	TREX1	606609	7
VATER association with macrocephaly and ventriculomegaly	VACTERL-H	276950	PTEN	601728	7
Velocardialfacial syndrome	VCFS	192430	22q11.2	188400	7
Ventricular fibrillation, familial, 1	VF1	603829	SCN5A	600163	7
Ventricular tachycardia, catecholaminergic polymorphic, 1	CPVT1	604772	RYR2	180902	10
Vitamin D-dependent rickets, type I	VDDR1A	264700	CYP27B1	609506	7
Vitreoretinochoroidopathy	VRCP	193220	BEST1	607854	7
Vitreoretinopathy, neovascular inflammatory	VRNI	193235	CAPN5	602537
VLCAD definiciency	ACADVLD	201475	ACADVL	609575	14
Vohwinkel syndrome		124500	GJB2 (Cx26)	121011	7
Von Hippel-Lindau syndrome	VHL	193300	VHL	608537	7
von Willebrand disease, platelet-type	VWDP	177820	GP1BA	606672	7
Waardenburg Syndrome	WS2A	193510	MITF	156845	10
Waardenburg syndrome, type 1	WS1	193500	PAX3	606597	10
Waardenburg Syndrome, TYPE 2E	WS2E	611584	SOX10	602229	7
Waardenburg syndrome, type 3	WS3	148820	PAX3	606597	10
Waardenburg syndrome, type 4A	WS4A	277580	EDNRB	131244	7
Waardenburg syndrome, type 4B	WS4B	613265	EDN3	131242	7
Waardenburg syndrome, type 4C	WS4C	613266	SOX10	602229	7
Waardenburg syndrome/albinism	WS2-OA	103470	TYR	606933	7
Waardenburg syndrome/ocular albinism, digenic	WS2A	103470	MITF	156845	10
Waardenburg-Syndrome, type 2D	WS2D	608890	SNAI2	602150	7
Watson syndrome	WTSN	193520	NF1	613113	21
Weill-Marchesani syndrome 2, dominant	WMS2	608328	FBN1	134797	28
West syndrome	EIEE1	308350	ARX	300382	7
Wiedemann-Steiner sydrome	WDSTS	605130	KMT2A	159555
Williams-Beuren syndrome	WBS	194050	7q11.2		7
Wilms tumor	WT1	194070	BRCA2	600185	21
Wilms tumor	WT1	194070	WT1	607102	10
Wilson disease	WD	277900	ATP7B	606882	7
Wilson-Turner syndrome	WTS	309585	HDAC8	300269	10
Wiskott-Aldrich syndrome	WAS	301000	WAS	300392	10
Yunis-Varon syndrome	YVS	216340	FIG4	609390	18