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
1680 Coat colour, dominant white with bilateral deafness 2 Target evidence 59.0
1685 Stress syndrome, DMD-related 1 Drug 59.0
1687 Chronic inflammatory enteropathy 7 Human disease 15.0
1688 Auditory-pigmentary syndrome, PAX3-related 2 Target evidence 61.7
1690 Hemifacial microsomia, generic 2 Human disease 12.0
1695 Reduced scale-3 1 Target evidence 55.6
1700 Pink eye 1 Human disease 31.5
1702 Alopecia areata 5 Human disease 15.0
1703 Chondrodysplasia, FGFR3-related 2 Drug 85.9
1708 Lymphoma, non-Hodgkin 2 Human disease 12.0
1714 Cleft lip and palate 2 Human disease 9.5
1716 Ehlers-Danlos syndrome with absence of dermatan sulfate proteoglycan 1 Human disease 9.0
1718 Dwarfism, Schmid metaphyseal chondrodysplasia 2 Target evidence 63.2
1723 Ataxia, familial episodic spinocerebellar 1 Target evidence 57.7
1724 Melanoma, malignant 6 Human disease 37.5
1736 Polled and multisystemic syndrome 1 Human disease 9.0
1757 Epilepsy, juvenile idiopathic 1 Human disease 9.0
1758 Cataract, early onset, HSF4-related 1 Target evidence 61.8
1759 Hypokalaemic periodic paralysis 2 Human disease 12.0
1760 Common Variable Immunodeficiency 1 Human disease 26.5
1762 Impaired acrosomal reaction 1 Human disease 9.0
1764 Choanal atresia 7 Human disease 15.0
1765 Waardenburg syndrome, type 4A 1 Drug 58.7
1772 Skeletal dysplasia 2, COL11A2-related 1 Drug 59.6
1774 Gyrate atrophy of choroid and retina 1 Human disease 9.0
1776 Dihydropyrimidinase deficiency 1 Human disease 14.0
1777 Mammary tumour 5 Drug 54.9
1786 Intestinal cobalamin (vitamin B12) malabsorption, CUBN-related 1 Human gene 29.0
1790 Chondrodysplasia, Labrador 1 Human disease 9.0
1791 Intestinal cobalamin (vitamin B12) malabsorption, generic 2 Human disease 12.0
1794 Cystic fibrosis 4 Human disease 35.0
1795 Niemann-Pick disease, type A 4 Target evidence 70.0
1796 Myopathy, congenital, with fibre-type disproportion 1 Human disease 9.0
1797 Mast cell tumour 3 Human disease 12.5
1803 Endocardial fibroelastosis 5 Human disease 15.0
1804 Ocular melanosis 1 Human disease 9.0
1805 Amelogenesis imperfecta, ENAM-related 1 Human gene 34.0
1807 Leishmaniasis, susceptibility/resistance to 1 Human disease 9.0
1808 Multiple autoimmune diseases syndrome 1 Human disease 9.0
1813 Haemangiosarcoma 11 Human disease 15.0
1815 Autism spectrum disorder 2 Human disease 37.0
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
1856 Tuberculosis, susceptibility/resistance to 6 Human disease 15.0
1861 Chiari malformation Type I with syringomyelia 1 Human disease 9.0
1864 Ectodermal dysplasia/skin fragility syndrome, PKP1-related 1 Target evidence 60.9