Comparative

Disease groups

1,086 disease groups whose chain reached a human disease, by OMIA group number.

OMIA group Name Species The chain reached Best score
1244 Retinal degeneration II 2 Drug 77.9
1245 Retinal degeneration I 1 Human disease 9.0
1247 Spinal dysmyelination 1 Target evidence 59.7
1248 Mucolipidosis II 1 Human disease 24.0
1256 Woolly hair 2 Human disease 6.5
1258 Obesity 7 Target evidence 41.8
1260 Retinal atrophy - Rod-cone dysplasia 2, RD3-related 1 Human disease 9.0
1261 Gluten-sensitive enteropathy 1 Human disease 9.0
1264 Hydromelia 1 Human disease 9.0
1266 Otitis media, predisposition to 8 Human disease 15.0
1268 Pheochromocytoma 2 Human disease 37.0
1269 Hyperaldosteronism 1 Human disease 9.0
1270 Convulsions and ataxia, CACNA1A-related 1 Drug 73.5
1271 Dwarfism, ACAN-related 3 Target evidence 61.3
1272 Comedo syndrome 1 Human disease 9.0
1278 Hypotrichosis, dominant 2 Human disease 32.0
1283 Xanthinuria, generic 5 Human disease 15.0
1286 Evans syndrome 1 Human disease 21.5
1287 Keratitis 3 Human disease 15.0
1289 Urticaria pigmentosa 1 Human disease 29.0
1290 Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome 1 Human disease 9.0
1292 Polyneuropathy, generic 2 Human disease 12.0
1294 Dwarfism, growth-hormone-receptor deficiency 1 Human disease 34.0
1298 Progressive rod-cone degeneration, PRCD-related 1 Human gene 29.0
1299 Avian sarcoma and leukosis virus, subgroup A, susceptibility/resistance to 1 Human disease 9.0
1302 Avian sarcoma and leukosis virus, subgroup B, susceptibility/resistance to 1 Human disease 34.0
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
1315 Osteochondrodysplasia 2 Human disease 12.0
1317 Mucopolysaccharidosis II 2 Human disease 37.0
1318 Elliptocytosis, SPTB-related 1 Human gene 34.0
1323 Dwarfism, GHR-related 3 Human disease 34.0
1325 Protein-losing enteropathy 1 Human disease 6.5
1326 Protein-losing nephropathy 1 Human disease 9.0
1331 Eclampsia 1 Human disease 9.0
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
1341 Night blindness, congenital stationary, TRPM1-related 1 Human disease 14.0
1342 Mucopolysaccharidosis IIIB 4 Target evidence 65.4
1345 Tricuspid valve dysplasia 2 Human disease 12.0
1346 Retinal atrophy, progressive, autosomal dominant, RHO-related 3 Target evidence 50.7
1348 Atrichia with papular lesions 1 Target evidence 54.9
1353 Scott syndrome 1 Target evidence 59.0
1360 Trimethylaminuria (fishy taint) 4 Human gene 40.0
1361 Dysplasia epiphysealis hememelica 1 Human disease 9.0
1365 Achromatopsia-3, CNGB3-related 2 Target evidence 62.6
1366 Retinal dysplasia and degeneration 1 Target evidence 53.4