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
1513 Leukaemia, chronic myelogenous 2 Drug 85.8
1514 Acral mutilation syndrome 1 Human disease 29.0
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
1522 Oculoskeletal dysplasia 1 1 Human disease 9.0
1523 Oculoskeletal dysplasia 2 1 Human gene 29.0
1524 Gallbladder mucoceles 1 Target evidence 54.6
1525 Leukocyte adhesion deficiency, type III 1 Target evidence 61.7
1530 Compulsive disorder 1 Human disease 34.0
1535 Testicular regression syndrome 1 Human disease 9.0
1540 Ciliary dyskinesia, primary, CCDC39-related 1 Human gene 34.0
1541 Arachnomelia, MOCS1-related 1 Target evidence 83.1
1542 Hypophosphatemic rickets, autosomal recessive, 1 2 Human disease 14.0
1543 Dyskinesia, paroxysmal 2 Human disease 9.5
1544 Hypotrichosis with coat-colour dilution (rat-tail syndrome) 1 Drug 49.0
1547 Wingless-2 1 Drug 58.3
1551 Brachycephaly 8 Target evidence 51.4
1552 Neuronal ceroid lipofuscinosis, 12 2 Target evidence 61.5
1553 Multifocal retinopathy 2 1 Target evidence 58.6
1554 Multifocal retinopathy 3 1 Target evidence 58.6
1561 Periodic Fever Syndrome 1 Target evidence 26.9
1562 Pulmonary hypoplasia with anasarca, ADAMTS3-related 2 Human gene 32.0
1564 Bleeding disorder, P2RY12-related 1 Drug 62.0
1573 Leukaemia, chronic monocytic 1 Drug 82.8
1574 Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive 3 Target evidence 62.0
1575 Retinal atrophy - Rod-cone dysplasia 4 1 Human gene 34.0
1577 Glycogen storage disease IIIa 1 Target evidence 63.1
1583 Hypotrichosis, with whiskers short and curled 1 Human disease 9.0
1588 Ichthyosis, PNPLA1-related 1 Human gene 29.0
1594 Hyperekplexia (Startle disease), SLC6A5-related 1 Target evidence 60.7
1595 Growth disorder, syndromic, OBSL1-related 2 Human gene 32.0
1601 XY difference of sexual development, generic 6 Human disease 15.0
1608 May-Hegglin anomaly 1 Target evidence 74.0
1612 Oligozeugodactyly 1 Target evidence 52.2
1619 Muscular dystrophy, congenital merosin-deficient 1 Human disease 9.0
1621 Muscular dystrophy-dystroglycanopathy (limb-girdle) 2 Human gene 32.0
1624 C6 deficiency 1 Human disease 9.0
1625 C2 deficiency 1 Human disease 9.0
1626 C4 deficiency 1 Human disease 9.0
1660 Centronuclear myopathy 2, BIN1-related 1 Target evidence 56.3
1661 Adrenal hyperplasia, congenital, CYP11B1-related 2 Human disease 14.0
1669 Retinal atrophy - Rod-cone dysplasia 1a 1 Human gene 29.0
1672 Hyperoxaluria, primary, type I (Oxalosis I) 2 Target evidence 92.0
1673 Spermatogenic arrest, TEX14-related 1 Human disease 9.0
1674 Retinal atrophy - Cone-rod dystrophy 1 1 Human gene 29.0
1675 Retinal atrophy - Cone-rod dystrophy 2 2 Target evidence 56.8
1677 Epidermolysis bullosa, junctionalis, LAMA3-related 3 Drug 64.5
1678 Epidermolysis bullosa, junctionalis, LAMC2-related 3 Drug 62.5