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
1525 Leukocyte adhesion deficiency, type III 1 Target evidence 61.7
1540 Ciliary dyskinesia, primary, CCDC39-related 1 Human gene 34.0
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
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
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
1608 May-Hegglin anomaly 1 Target evidence 74.0
1612 Oligozeugodactyly 1 Target evidence 52.2
1621 Muscular dystrophy-dystroglycanopathy (limb-girdle) 2 Human gene 32.0
1660 Centronuclear myopathy 2, BIN1-related 1 Target evidence 56.3
1669 Retinal atrophy - Rod-cone dysplasia 1a 1 Human gene 29.0
1672 Hyperoxaluria, primary, type I (Oxalosis I) 2 Target evidence 92.0
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
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
1772 Skeletal dysplasia 2, COL11A2-related 1 Drug 59.6
1777 Mammary tumour 5 Drug 54.9
1786 Intestinal cobalamin (vitamin B12) malabsorption, CUBN-related 1 Human gene 29.0
1795 Niemann-Pick disease, type A 4 Target evidence 70.0
1805 Amelogenesis imperfecta, ENAM-related 1 Human gene 34.0
1817 Perinatal weak calf syndrome 1 Human gene 29.0
1818 Factor XIII deficiency, F13A1-related 2 Drug 65.4
1819 Xanthinuria, type II 2 Target evidence 64.4
1820 Ataxia, spinocerebellar, CAPN1-related 1 Human gene 34.0
1821 Coat colour, albinism, oculocutaneous type IV 6 Target evidence 69.6
1823 Haplotype with homozygous deficiency HH2, IFT80-related 1 Human gene 29.0
1864 Ectodermal dysplasia/skin fragility syndrome, PKP1-related 1 Target evidence 60.9