Comparative

Disease groups

2,194 disease groups, by OMIA group number.

OMIA group Name Species The chain reached Best score
2430 Beta-2-microglobulin deficiency 1 Animal disease only
2432 Neuronal ceroid lipofuscinosis, 3 2 Target evidence 75.6
2433 Thrombopathia, RASGRP2-related 2 Target evidence 64.2
2434 Thrombocytopenia, TUBB1-related 1 Human disease 9.0
2435 Sperm, short tail, SPEF2-related 1 Target evidence 53.5
2437 Skin colour, albinism, generic 6 Animal disease only
2439 Deafness, GJB2-related 1 Human disease 5.0
2440 Marek disease virus, susceptibility/resistance to 1 Animal disease only
2441 Short QT syndrome, KCNH2-related 1 Human disease 5.0
2442 Sperm flagella defect, DNAH17-related 1 Target evidence 54.5
2443 Osteopetrosis, SLC4A2-related 1 Animal disease only
2444 Hydrallantois, SLC12A1-related 1 Drug 59.0
2445 Xanthinuria, type I 2 Drug 60.2
2447 Spondyloarthropathy, predisposition to 2 Animal disease only
2448 Infectious pancreatic necrosis virus (IPNV), susceptibility/resistance to 2 Animal disease only
2450 Ichthyosis, FA2H-related 1 Animal disease only
2452 Hair shaft dysplasia, DSG4-related 1 Animal disease only
2453 Waardenburg syndrome, SOX10-related 1 Human disease 5.0
2454 Olivopontocerebellar degeneration with 3-hydroxy-3-methylglutaric aciduria 1 Human disease 9.0
2455 Fragile X syndrome, FMR1-related 2 Human disease 29.0
2458 Hypoparathyroidism, RAPGEF5-related 1 Animal disease only
2459 Congenital muscular dystrophy, LAMA2-related 1 Drug 60.3
2460 Muscular dystrophy-dystroglycanopathy, LARGE1-related 1 Target evidence 56.3
2463 Caudal cruciate ligament disease 1 Animal disease only
2464 Cryopyrin-associated periodic syndrome, NLRP3-related 1 Human disease 30.0
2465 Dental-skeletal-retinal anomaly, MIA3-related 2 Target evidence 45.5
2469 Retinopathy, RDH5-related 1 Target evidence 58.4
2472 Ewe neck 1 Animal disease only
2473 Ataxia, spinocerebellar, ATXN3-related 1 Human disease 22.5
2475 Placenta, retained 3 Animal disease only
2476 Lymphangiosarcoma 1 Human disease 21.5
2477 Cardiovascular disease risk, ASGR1-related 1 Animal disease only
2479 Hemifacial microsomia, LAMB1-related 1 Human gene 29.0
2480 Myopathy, atypical 1 Human disease 9.0
2481 Angel wing 3 Animal disease only
2483 Neuromuscular channelopathy, KCNG1-related 1 Animal disease only
2484 Bardet-Biedl syndrome 2 1 Target evidence 55.7
2485 Skeletal dysplasia, LTBP3-related 1 Human disease 9.0
2488 Parkinson disease, PARK7-related 3 Human disease 5.0
2489 Spermatogenic arrest, DAZL-related 1 Animal disease only
2491 Amyotrophic lateral sclerosis, SOD1-related 1 Human disease 5.0
2492 Amyotrophic lateral sclerosis, TARDBP-related 3 Human disease 5.0
2493 Alzheimer disease, PSEN1-related 3 Human disease 10.0
2497 African swine fever virus (ASFV), susceptibility/resistance to 2 Animal disease only
2500 Azoospermia 1 Human disease 6.5
2501 Haplotype with homozygous deficiency SH1 1 Animal disease only
2502 Haplotype with homozygous deficiency SH2 1 Animal disease only
2503 Haplotype with homozygous deficiency SH3 1 Animal disease only
2504 Haplotype with homozygous deficiency SH4 1 Animal disease only
2505 Haplotype with homozygous deficiency SH5, DIS3-related 1 Animal disease only