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
3010 Polyglucosan body myopathy, RBCK1-related 1 Target evidence 62.9
3011 Ichthyosis, ALOXE3-related 1 Human gene 34.0
3025 Cerebellar abiotrophy, CACNA2D2-related 1 Human gene 29.0
3026 Porencephaly, SLC25A12-related 1 Target evidence 57.0
3028 Retinal atrophy, cone-rod dystrophy, SPATA7-related 1 Target evidence 54.6
3029 Progeroid syndrome 1 Human disease 31.5
3031 Deafness, LHFPL5-related 1 Human gene 29.0
3038 Paw pad hyperkeratosis, GJB6-related 1 Target evidence 57.9
3039 Curly coat, KRT25-related 1 Target evidence 53.0
3043 Fanconi anaemia, FANCA-related 1 Human disease 10.0
3044 Osteogenesis imperfecta, BMP1-related 1 Human gene 34.0
3045 Autoimmune lymphoproliferative syndrome, FAS-related 1 Target evidence 59.9
3046 Retinal atrophy, progressive, CACNA1F-related 1 Drug 59.6
3047 Polycystic kidney disease, GANAB-related 1 Target evidence 61.7
3048 Vestibular disease, PCDH15-related 1 Target evidence 54.7
3053 Neuropsychiatric disorder risk factor, DISC1-related 2 Human gene 29.0
3054 Atrioventricular septal defect 1 Human disease 6.5
3056 Myopathy, creatine deficiency disorder, GATM-related 1 Target evidence 58.6
3057 Cerebellar atrophy, EMC1-related 1 Target evidence 60.9
3058 Ataxia, SETX-related 1 Target evidence 58.1
3059 Hypothyroidism and dwarfism, TG-related 1 Human gene 29.0
3061 Leukoencephalomyelopathy, NECAP1-related 1 Human gene 34.0
3069 Diabetes mellitus, PAX4-related 1 Human disease 30.0
3070 Pulmonary hypertension, BMPR2-related 1 Human disease 10.0
3072 Polysynovitis, HYAL1-related 1 Target evidence 56.3
3076 Meniere disease 1 Human disease 34.0
3078 Cardiomyopathy, dilated, SLC6A6-related 1 Human disease 14.0
3080 Dystroglycanopathy, POMT1-related 1 Target evidence 57.8
3081 Usher syndrome, WHRN-related 1 Target evidence 53.8
3084 Hyperlipidaemia/atherosclerosis, APOA5-related 1 Human disease 5.0
3085 Leukodystrophy, hypomyelinating, GJC2-related 1 Human disease 9.0
3087 Hypercalcaemia, CASR-related 1 Human disease 9.0
3089 Neurodevelopmental disorder, SETD1A-related 1 Human disease 5.0
3096 Progressive pseudorheumatoid dysplasia, CCN6-related 1 Human disease 10.0
3098 Retinoschisis, RS1-related 1 Human disease 29.0
3099 Pleuropulmonary blastoma 1 Human disease 29.0