Comparative

Disease groups

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

OMIA group Name Species The chain reached Best score
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
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
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
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
1524 Gallbladder mucoceles 1 Target evidence 54.6
1525 Leukocyte adhesion deficiency, type III 1 Target evidence 61.7
1541 Arachnomelia, MOCS1-related 1 Target evidence 83.1
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
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
1577 Glycogen storage disease IIIa 1 Target evidence 63.1
1594 Hyperekplexia (Startle disease), SLC6A5-related 1 Target evidence 60.7
1608 May-Hegglin anomaly 1 Target evidence 74.0
1612 Oligozeugodactyly 1 Target evidence 52.2
1660 Centronuclear myopathy 2, BIN1-related 1 Target evidence 56.3
1672 Hyperoxaluria, primary, type I (Oxalosis I) 2 Target evidence 92.0
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
1680 Coat colour, dominant white with bilateral deafness 2 Target evidence 59.0
1685 Stress syndrome, DMD-related 1 Drug 59.0
1688 Auditory-pigmentary syndrome, PAX3-related 2 Target evidence 61.7
1695 Reduced scale-3 1 Target evidence 55.6
1703 Chondrodysplasia, FGFR3-related 2 Drug 85.9
1718 Dwarfism, Schmid metaphyseal chondrodysplasia 2 Target evidence 63.2
1723 Ataxia, familial episodic spinocerebellar 1 Target evidence 57.7
1758 Cataract, early onset, HSF4-related 1 Target evidence 61.8
1765 Waardenburg syndrome, type 4A 1 Drug 58.7