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
1867 Lissencephaly and cerebellar hypoplasia, RELN-related 2 Target evidence 64.5
1870 Glaucoma, primary open angle, ADAMTS10-related 1 Human gene 29.0
1876 Retinal atrophy, progressive, SAG-related 1 Target evidence 52.4
1879 Cystinuria, type II - A 1 Target evidence 83.6
1880 Cystinuria, type II - B 1 Target evidence 83.5
1887 Osteopetrosis with gingival hamartomas 1 Target evidence 72.7
1888 Muscular dystrophy, Becker type 3 Drug 93.7
1899 Incontinentia pigmenti 1 Target evidence 63.1
1901 Haplotype with homozygous deficiency, RNASEH2B-related 1 Target evidence 55.8
1916 Familial adenomatous polyposis 3 Target evidence 66.4
1917 Polyneuropathy, ARHGEF10-related 1 Target evidence 47.1
1919 Cleft palate 1, DLX6-related 1 Target evidence 30.5
1926 Achondrogenesis, type II 3 Drug 68.7
1928 Myasthenic syndrome, congenital, COLQ-related 1 Human gene 34.0
1931 Depigmentation associated with microphthalmia 1 Target evidence 57.1
1932 Retinal atrophy, progressive, MERTK-related 1 Human gene 29.0
1934 Ptosis, intellectual disability, retarded growth and mortality (PIRM) syndrome (Haplotype AH1) 1 Target evidence 57.0
1937 Cushing syndrome, ACTH-independent, adrenal-dependent hypercortisolism 1 Target evidence 56.7
1938 Liver fibrosis, congenital, PKHD1-related 1 Target evidence 55.7
1944 Spondylocostal dysostosis, autosomal recessive 1 Target evidence 50.7
1947 Cerebellar hypoplasia, VLDLR-associated 1 Human gene 29.0
1948 Epidermolysis bullosa, junctionalis, ITGB4-related 2 Target evidence 52.2
1949 Hypotrichosis, with thymic aplasia 3 Target evidence 63.6
1951 Vertebral and spinal dysplasia 1 Target evidence 48.3
1952 Microtia 2 Target evidence 58.7
1953 Arthrogryposis, lethal syndrome 1 Target evidence 54.1
1962 Neuronal ceroid lipofuscinosis, 7 4 Target evidence 69.5
1965 Cholesterol deficiency, APOB-related 1 Drug 59.4
1967 Muscular dystrophy, Ullrich type, COL6A1-related 1 Drug 59.1
1970 Polyneuropathy, RAB3GAP1-related 1 Target evidence 57.2
1973 Ichthyosis, SLC27A4-related 1 Target evidence 77.2
1975 Neuroaxonal dystrophy, TECPR2-related 1 Target evidence 56.6
1976 Glaucoma, primary open angle, ADAMTS17-related 1 Target evidence 53.7
1977 Retinal atrophy, progressive, CNGA1-related 1 Target evidence 53.6
1978 Increased muscular tonus, congenital 1 Target evidence 43.0
1980 Ichthyosis, NIPAL4-related 1 Human gene 34.0
1984 Retinal atrophy, progressive, TTC8-related 1 Human gene 34.0
1986 Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation 1 Target evidence 57.5
1987 Tail, short and kinked (Japanese bobtail) 1 Target evidence 50.7
1990 Cancer, TP53-related 5 Drug 84.9
1991 Stillbirth 1 Human gene 26.5
2015 Dental hypomineralization 1 Target evidence 58.3
2016 Van den Ende-Gupta syndrome 1 Target evidence 61.1
2020 Ligneous membranitis 1 Drug 69.5
2022 Arthrogryposis multiplex congenita, CHRNB1-related 1 Human gene 34.0
2023 Cystinuria, type B 1 Target evidence 83.5
2028 Myeloperoxidase deficiency 1 Drug 63.4
2029 Retinitis pigmentosa 1 1 Target evidence 59.7
2032 Neuropathy, sensory, RETREG1-related 1 Human gene 34.0
2034 Cerebellar cortical degeneration, SNX14-related 1 Target evidence 57.0