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
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
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
1466 Exercise-induced collapse 1 Target evidence 54.5
1468 Multiple system degeneration, SERAC1-related 1 Target evidence 58.1
1472 Neuronal ceroid lipofuscinosis, 2 3 Target evidence 92.0
1473 Dwarfism, growth-hormone deficiency 3 Target evidence 50.3
1481 Achromatopsia-2, CNGA3-related 2 Target evidence 61.8
1482 Neuronal ceroid lipofuscinosis, 5 3 Target evidence 69.2
1483 Osteogenesis imperfecta, SERPINH1-related 1 Target evidence 59.0
1486 Night blindness, congenital stationary, LRIT3-related 1 Human gene 34.0
1492 Axonopathy, segmental, ALS2-related 1 Target evidence 55.5
1493 Porphyria, acute intermittent 1 Target evidence 79.1
1501 Dilute coat color with neurological defects 2 Target evidence 57.7
1502 Caprine-like generalized hypoplasia syndrome 1 Human gene 29.0
1504 Neuronal ceroid lipofuscinosis, 1 2 Target evidence 63.4
1505 Neuronal ceroid lipofuscinosis, 10 2 Target evidence 65.1
1506 Neuronal ceroid lipofuscinosis, 8 1 Target evidence 63.2
1508 Myotubular myopathy 1 2 Target evidence 79.7
1509 Geleophysic dysplasia, ADMATSL2-related 1 Human gene 29.0
1512 Transitional cell carcinoma 2 Drug 62.0
1513 Leukaemia, chronic myelogenous 2 Drug 85.8
1515 Colorectal hamartomatous polyposis and ganglioneuromatosis 1 Target evidence 59.6
1516 Gastrointestinal stromal tumour 1 Drug 85.2
1518 Retinal atrophy, progressive, X-linked, type 2 1 Target evidence 53.9
1520 Retinal atrophy - Cone-rod dystrophy 3 1 Human gene 29.0
1523 Oculoskeletal dysplasia 2 1 Human gene 29.0
1524 Gallbladder mucoceles 1 Target evidence 54.6