Comparative

Disease groups

524 disease groups whose chain reached a human gene, by OMIA group number.

OMIA group Name Species The chain reached Best score
882 Retinal atrophy - Rod-cone dysplasia 1 1 Human gene 29.0
899 Severe combined immunodeficiency disease, X-linked 3 Drug 72.4
938 Spinal dysraphism 2 Target evidence 34.8
944 Spongiform encephalopathy, susceptibility/resistance to 58 Target evidence 48.7
963 Syndactyly 9 Target evidence 64.0
975 Tail, short 5 Target evidence 54.3
978 Orofaciodigital syndrome, C2CD3-related 1 Target evidence 57.1
979 Talpid-3 1 Target evidence 56.9
1000 Thrombasthenia 3 Drug 89.5
1009 Hemimelia, tibial 2 Target evidence 33.9
1033 Urolithiasis 30 Target evidence 62.4
1040 Ventricular arrhythmias and sudden death 1 Human gene 29.0
1054 Vitamin-K-dependent blood coagulation factors deficiency 3 Drug 64.3
1056 Von Willebrand disease, generic 6 Drug 65.4
1057 Von Willebrand disease I 2 Drug 62.1
1058 Von Willebrand disease III 4 Drug 65.4
1071 Wilson disease 7 Target evidence 95.2
1081 Muscular dystrophy, Duchenne type 4 Drug 92.4
1097 Necrotising encephalopathy, subacute, of Leigh 3 Target evidence 64.0
1106 Axonopathy 1 Target evidence 58.7
1112 Nephritis, X-linked 1 Drug 65.9
1135 Renal dysplasia 5 Target evidence 64.4
1138 Hypocatalasia 2 Target evidence 56.4
1139 Glycogen storage disease V 2 Target evidence 81.7
1175 Porphyria, congenital erythropoietic 4 Target evidence 89.8
1176 Porphyria cutanea tarda 2 Target evidence 60.9
1200 Tremor, high-frequency 2 Drug 62.5
1208 Alexander disease 2 Target evidence 87.5
1213 Premature senesence 2 Target evidence 83.0
1214 Osteochondromatosis, EXT2-related 1 Target evidence 58.0
1222 Leber congenital amaurosis 2 Drug 63.3
1223 Goniodysgenesis 1 Human gene 29.0
1228 Spherocytosis 3 Target evidence 63.7
1230 XY sex reversal, SRY-related 6 Target evidence 68.8
1243 Alkaptonuria 6 Target evidence 89.6
1244 Retinal degeneration II 2 Drug 77.9
1247 Spinal dysmyelination 1 Target evidence 59.7
1258 Obesity 7 Target evidence 41.8
1270 Convulsions and ataxia, CACNA1A-related 1 Drug 73.5
1271 Dwarfism, ACAN-related 3 Target evidence 61.3
1298 Progressive rod-cone degeneration, PRCD-related 1 Human gene 29.0
1309 Mucopolysaccharidosis IIIA 1 Target evidence 84.4
1311 Photoreceptor dysplasia, PPT1-related 1 Target evidence 58.4
1314 Retinal atrophy - Rod-cone dysplasia 3, PDE6A-related 1 Drug 61.3
1318 Elliptocytosis, SPTB-related 1 Human gene 34.0
1334 Sperm, short tail 3 Human gene 35.0
1335 Renal cystadenocarcinoma and nodular dermatofibrosis, FLCN-related 1 Target evidence 57.1
1339 Von Willebrand disease II 2 Drug 63.4
1340 Complex vertebral malformation 3 Target evidence 62.1
1342 Mucopolysaccharidosis IIIB 4 Target evidence 65.4