Comparative

Disease groups

423 disease groups whose chain reached target evidence, by OMIA group number.

OMIA group Name Species The chain reached Best score
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
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
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
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
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
1365 Achromatopsia-3, CNGB3-related 2 Target evidence 62.6
1366 Retinal dysplasia and degeneration 1 Target evidence 53.4
1368 Retinopathy globe enlarged 1 Target evidence 51.5
1371 L-2-hydroxyglutaricacidemia 2 Target evidence 65.8
1374 Centronuclear myopathy, HACD1-related 1 Target evidence 51.0
1401 Waardenburg syndrome, type 2A 3 Target evidence 60.1
1403 Pancreatitis, hereditary 2 Target evidence 55.2
1406 Pyruvate dehydrogenase deficiency 1 Target evidence 61.2
1415 Hyperkeratosis, epidermolytic 2 Target evidence 57.5
1427 Gangliosidosis, GM2, (AB variant), GM2A-related 2 Target evidence 62.7
1428 Trapped Neutrophil Syndrome 1 Target evidence 59.2
1431 Vitamin D-deficiency rickets, type II 2 Drug 63.2
1432 Retinal atrophy - Cone-rod dystrophy 4 1 Target evidence 55.0
1443 Neuronal ceroid lipofuscinosis, 6 3 Target evidence 69.4
1444 Multifocal retinopathy 1 1 Target evidence 58.6
1450 Congenital muscular dystonia 1 1 Drug 63.4
1451 Congenital muscular dystonia 2 1 Target evidence 55.7
1455 Retinal atrophy - Cone-rod dystrophy, NPHP4-related 1 Target evidence 59.5
1461 Gangliosidosis, GM2, type I (B variant) 7 Target evidence 85.2
1462 Gangliosidosis, GM2, type II (Sandhoff or variant 0) 3 Target evidence 89.3
1464 Pseudomyotonia, congenital 2 Drug 63.4