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Nr. crt.	Disease	OMIM (disease)	Gene	OMIM (gene)
1	Acyl-CoA Dehydrogenase medium chain deficiency	201450	*ACADM*	607008
2	Acyl-CoA Dehydrogenase short chain deficiency	201470	*ACADS*	606885
3	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency	202010	*CYP11B1*	610613
4	Adrenoleukodystrophy	300100	*ABCD1*	300371
5	Albinism Type 1	203100	*TYR*	606933
6	Albinism Type 2	203200	*OCA2*	611409
7	Albinism Type 3	203290	*TYRP1*	115501
8	Albinism Type 4	606574	*SLC45A2*	606202
9	Alport syndrome type 2	203780	*COL4A3*	120070
10	Alport syndrome type 2	203780	*COL4A4*	120131
11	Alport syndrome X-linked	301050	*COL4A5*	303630
12	Alstrom syndrome	203800	*ALMS1*	606844
13	Argininemia	207800	*ARG1*	608313
14	Argininosuccinic aciduria	207900	*ASL*	608310
15	Aspartylglucosaminuria	208400	*AGA*	613228
16	Ataxia telangiectasia	208900	*ATM*	607585
17	Bardet-Biedl syndrome 1	209900	*BBS1*	209901
18	Bardet-Biedl syndrome 10	615987	*BBS10*	610148
19	Bardet-Biedl syndrome 12	615989	*BBS12*	610683
20	Bardet-Biedl syndrome 13	615990	*MKS1*	609883
21	Bardet-Biedl syndrome 2	615981	*BBS2*	606151
22	Bardet-Biedl syndrome 3	600151	*ARL6*	608845
23	Bardet-Biedl syndrome 4	615982	*BBS4*	600374
24	Bardet-Biedl syndrome 9	615986	*BBS9*	615986
25	Batten disease- ceroid lipofuscinosis neuronal 2	204500	*TPP1*	607998
26	Batten disease- ceroid lipofuscinosis neuronal 3	204200	*CLN3*	607042
27	Becker Muscular dystrophy	300376	*DMD*	300377
28	Biotinidase deficiency	253260	*BTD*	609019
29	Cardiomyopathy dilated	601287	*SGCD*	601411
30	Cardiomyopathy dilated	606685	*SGCD*	601411
31	Cardiomyopathy dilated type 1X	611615	*FKTN*	607440
32	Cardiomyopathy dilated type 3B	302045	*DMD*	300377
33	Carnitine deficiency	212140	*SLC22A5*	603377
34	Cerebrotendinous xanthomatosis	213700	*CYP27A1*	606530
35	Citrullinemia	215700	*ASS1*	603470
36	COACH syndrome	212065	*PMM2*	601785
37	Combined immunodeficiency, X-linked, moderate	312863	*IL2RG*	308380
38	Congenital disorder of glycosylation, type Ib	602579	*MPI*	154550
39	Congenital disorder of glycosylation, type Ic	603147	*ALG6*	604566
40	Crigler-Najjar syndrome type 1	218800	*UGT1A1*	191740
41	Cystic fibrosis	219700	*CFTR*	602421
42	D-bifunctional protein deficiency	261515	*HSD17B4*	601860
43	Deafness, autosomal recessive 1A	220290	*GJB2*	121011
44	Deafness, autosomal recessive 1A	220290	*GJB3*	603324
45	Deafness, autosomal recessive 1B	612645	*GJB6*	604418
46	Deafness, autosomal recessive 23	609533	*PCDH15*	605514
47	Deafness, autosomal recessive 4	600791	*SLC26A4*	605646
48	Deafness, digenic GJB2/GJB6	220290	*GJB6*	604418
49	Diabetes insipidus, nephrogenic	304800	*AVPR2*	300538
50	Duchenne muscular dystrophy	310200	*DMD*	300377
51	Ectodermal dysplasia X-linked	305100	*EDA*	300451
52	Ectodermal dysplasia X-linked	249100	*MEFV*	608107
53	Enhanced S-cone syndrome	268100	*NR2E3*	604485
54	Epidermolysis bullosa dystrophica	226600	*COL7A1*	120120
55	Epidermolysis bullosa simplex, type 1	601001	*KRT14*	148066
56	Epidermolysis bullosa simplex, type 1	601001	*KRT5*	148040
57	Epidermolysis bullosa, junctional	226650	*COL17A1*	113811
58	Epidermolysis bullosa, junctional, type Herlitz	226700	*LAMB3*	150310
59	Epidermolysis bullosa, junctional, type Herlitz	226650	*LAMC2*	150292
60	Epidermolysis bullosa, junctional, type non-Herlitz	226700	*LAMC2*	150292
61	Fabry disease	301500	*GLA*	300644
62	Fragile X syndrome	300624	*FMR1*	309550
63	Fructose intolerance, hereditary	229600	*ALDOB*	612724
64	Fundus flavimaculatus	248200	*ABCA4*	601691
65	Galactosemia	230400	*GALT*	606999
66	Gaucher disease perinatal lethal	608013	*GBA*	606463
67	Gaucher disease type I	230800	*GBA*	606463
68	Gaucher disease type II	230900	*GBA*	606463
69	Gaucher disease type III	231000	*GBA*	606463
70	Gaucher disease type IIIC	231005	*GBA*	606463
71	Glutaric acidemia type 1	231670	*GCDH*	608801
72	Glycogen storage disease type 1A	232200	*G6PC*	613742
73	Glycogen storage disease type 1B	232220	*SLC37A4*	602671
74	Glycogen storage disease type II (Pompe)	232300	*GAA*	606800
75	Heimler syndrome type 1	234580	*PEX1*	602136
76	Heimler syndrome type 2	616617	*PEX6*	601498
77	Hemochromatosis	235200	*HFE*	613609
78	Hemochromatosis	604250	*TFR2*	604720
79	Hemolytic anemia due to G6PD deficiency	300908	*G6PD*	305900
80	Hemophilia A	306700	F8	300841
81	Hemophilia B	306900	F9	300746
82	HMG-CoA lyase deficiency	246450	*HMGCL*	613898
83	Holocarboxylase synthetase deficiency	253270	*HLCS*	609018
84	Homocystinuria, B6-responsive and nonresponsive types	236200	*CBS*	613381
85	Hyperinsulinemic hypoglycemia, familial, type 1	256450	*ABCC8*	600509
86	Hyperinsulinemic hypoglycemia, familial, type 2	601820	*KCNJ11*	600937
87	Hyperphenylalaninemia, BH4-deficient, A	261640	*PTS*	612719
88	Hypophosphatasia, infantile	241500	*ALPL*	171760
89	Ichthyosis, congenital, autosomal recessive 1	242300	*TGM1*	190195
90	Isovaleric acidemia	243500	*IVD*	607036
91	Joubert syndrome type 2	608091	*TMEM216*	613277
92	Joubert syndrome type 28	617121	*MKS1*	609883
93	Joubert syndrome type 7	611560	*RPGRIP1L*	610937
94	Joubert syndrome type 8	612291	*ARL13B*	608922
95	Krabbe disease	245200	*GALC*	606890
96	LCHAD deficiency	609016	*HADHA*	600890
97	Maple syrup urine disease, type 1a	248600	*BCKDHA*	608348
98	Maple syrup urine disease, type 1b	248600	*BCKDHB*	248611
99	Maple syrup urine disease, type II	248600	*DBT*	248610
100	Meckel syndrome type 1	249000	*MKS1*	609883
101	Menkes disease	309400	*ATP7A*	300011
102	Metachromatic leukodystrophy	250100	*ARSA*	607574
103	Methylmalonic aciduria (mut0)	251000	*MMUT*	609058
104	Methylmalonic aciduria and homocystinuria, type cblD	277410	*MMADHC*	611935
105	Methylmalonic aciduria, vitamin B12-responsive, type cblA	251100	*MMAA*	607481
106	Methylmalonic aciduria, vitamin B12-responsive, type cblB	251110	*MMAB*	607568
107	Mitochondrial trifunctional protein deficiency	609015	*HADHA*	600890
108	Mucolipidosis II alpha/beta	252500	*GNPTAB*	607840
109	Mucolipidosis III gamma	252605	*GNPTG*	607838
110	Mucolipidosis IV	252650	*MCOLN1*	605248
111	Mucopolysaccharidosis Ih/s	607015	*IDUA*	252800
112	Mucopolysaccharidosis II	309900	*IDS*	300823
113	Mucopolysaccharidosis type IIIA	252900	*SGSH*	605270
114	Mucopolysaccharidosis type IIIB	252920	*NAGLU*	609701
115	Mucopolysaccharidosis type IIIC	252930	*HGSNAT*	610453
116	Muscular dystrophy limb-girdle type 2C	253700	*SGCG*	608896
117	Muscular dystrophy, limb-girdle type 2D	608099	*SGCA*	600119
118	Muscular dystrophy, limb-girdle type 2E	604286	*SGCB*	600900
119	Muscular dystrophy-dystroglycanopathy, type A, 5	613153	*FKRP*	606596
120	Myotubular myopathy, X-linked	310400	*MTM1*	300415
121	Naxos/Carvajal syndrome	601214	*JUP*	173325
122	Nephrotic syndrome, type 2	600995	*NPHS2*	604766
123	Niemann-Pick disease type A	257200	*SMPD1*	607608
124	Niemann-Pick disease type C1	257220	*NPC1*	607623
125	Niemann-Pick disease type C2	607625	*NPC2*	601015
126	Nijmegen syndrome	251260	*NBN*	602667
127	Nonaka myopathy	605820	*GNE*	603824
128	Ornithine transcarbamylase deficiency	311250	*OTC*	300461
129	Phenylketonuria	261600	*PAH*	612349
130	Polycystic kidney and hepatic disease	263200	*PKHD1*	606702
131	Proprionicacidemia	606054	*PCCA*	232000
132	Proprionicacidemia	606054	*PCCB*	232050
133	Pyruvate carboxylase deficiency	266150	PC	608786
134	Retinal dystrophy, early-onset severe	248200	*ABCA4*	601691
135	Retinitis pigmentosa 19	601718	*ABCA4*	601691
136	Retinitis pigmentosa 37	611131	*NR2E3*	604485
137	Retinitis pigmentosa 39	613809	*USH2A*	608400
138	Retinitis pigmentosa 41	612095	*PROM1*	604365
139	Retinitis pigmentosa 59	613861	*DHDDS*	608172
140	Retinitis pigmentosa 61	614180	*CLRN1*	606397
141	Retinitis pigmentosa 73	616544	*HGSNAT*	610453
142	Retinitis pigmentosa 76	617123	*POMGNT1*	606822
143	Retinoschisis X-linked	312700	*RS1*	300839
144	Roberts-SC phocomelia syndrome	268300	*ESCO2*	609353
145	Sandhoff disease	268800	*HEXB*	606873
146	Segawa syndrome	605407	TH	191290
147	Severe combined immunodeficiency, X-linked	300400	*IL2RG*	308380
148	Sjogren-Larsson syndrome	270200	*ALDH3A2*	609523
149	Smith-Lemli-Opitz syndrome	270400	*DHCR7*	602858
150	Spastic ataxia, Charlevoix-Saguenay	270550	*SACS*	604490
151	Spinal muscular atrophy type 1	253300	*SMN1*	600354
152	Spinal muscular atrophy type 2	253550	*SMN1*	600354
153	Spinal muscular atrophy type 3	253400	*SMN1*	600354
154	Spinal muscular atrophy type 4	271150	*SMN1*	600354
155	STAR syndrome	201710	*STAR*	600617
156	Stargardt disease type 1	248200	*ABCA4*	601691
157	Tay-Sachs disease	272800	*HEXA*	606869
158	Thalassemia B; Sickle cell anemia	603903	*HBB*	141900
159	Thalassemia, beta	613985	*HBB*	141900
160	Tyrosinemia, type I	276700	*FAH*	613871
161	Usher syndrome type 1b,	276900	*MYO7A*	276903
162	Usher syndrome type 1c	276904	*USH1C*	605242
163	Usher syndrome type 1d	601067	*CDH23*	605516
164	Usher syndrome type 2a	276901	*USH2A*	608400
165	Usher syndrome type 3a	276902	*CLRN1*	606397
166	VLCAD deficiency	201475	*ACADVL*	609575
167	Wilson disease	277900	*ATP7B*	606882
168	Wolman disease	278000	*LIPA*	613497
169	Xeroderma pigmentosum, group A	278700	*XPA*	611153
170	Xeroderma pigmentosum, group C	278720	*XPC*	613208