Comparative

Disease groups

2,194 disease groups, by OMIA group number.

OMIA group Name Species The chain reached Best score
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
3049 Excessive skin folds 1 Animal disease only
3051 Addison’s disease and multiple autoimmune syndrome, RESF1-related 1 Animal disease only
3052 Thoracic wall deformity 1 Animal disease only
3053 Neuropsychiatric disorder risk factor, DISC1-related 2 Human gene 29.0
3054 Atrioventricular septal defect 1 Human disease 6.5
3055 Mesencephalic astrocyte-derived neurotrophic factor deficiency 1 Animal disease only
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
3060 Phloiokeratosis, SUV39H1-related 1 Animal disease only
3061 Leukoencephalomyelopathy, NECAP1-related 1 Human gene 34.0
3062 Nocardiosis, susceptibility/resistance to 1 Animal disease only
3063 Haplotype with homozygous deficiency, FH1-FH10 1 Animal disease only
3064 Embryonic lethality, MET-related 1 Animal disease only
3065 Sperm abnormalities and embryonic lethality, FH10 Haplotype 1 Animal disease only
3069 Diabetes mellitus, PAX4-related 1 Human disease 30.0
3070 Pulmonary hypertension, BMPR2-related 1 Human disease 10.0
3071 Hypocobalaminemia, generic 1 Animal disease only
3072 Polysynovitis, HYAL1-related 1 Target evidence 56.3
3075 Chorioretinopathy 1 Animal disease only
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
3082 Male infertility, TFDP3-related 1 Animal disease only
3083 Autism spectrum disorder, ANK2-related 2 Animal disease only
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
3091 Cerebellar atrophy, PACSIN1-related 1 Animal disease only
3092 Atherosclerosis, LAMB2-related 1 Animal disease only
3093 Male subfertility, FER1L5-related 1 Animal disease only
3094 Male subfertility, ABCA16-related 1 Animal disease only
3096 Progressive pseudorheumatoid dysplasia, CCN6-related 1 Human disease 10.0
3097 Copper toxicosis, generic 1 Animal disease only
3098 Retinoschisis, RS1-related 1 Human disease 29.0
3099 Pleuropulmonary blastoma 1 Human disease 29.0