Comparative

Disease groups

423 disease groups whose chain reached target evidence, by OMIA group number.

OMIA group Name Species The chain reached Best score
2922 Ataxia with isolated vitamin E deficiency 1 Target evidence 62.8
2926 Retinal atrophy, progressive, GTPBP2-related 1 Target evidence 56.0
2939 Epileptic encephalopathy, CAD-related 1 Target evidence 57.1
2951 Cardiomyopathy, hypertrophic, MYBPC3-related, autosomal dominant 1 Target evidence 58.5
2952 Cardiomyopathy, hypertrophic, MYBPC3-related, autosomal recessive 1 Target evidence 58.5
2958 Rhizomelic chondrodysplasia punctata, GNPAT-related 1 Target evidence 42.0
2967 Plasminogen activator inhibitor-1 deficiency, SERPINE1-related 1 Drug 75.5
2976 Macular dystrophy, BEST1-related 1 Target evidence 58.6
3010 Polyglucosan body myopathy, RBCK1-related 1 Target evidence 62.9
3026 Porencephaly, SLC25A12-related 1 Target evidence 57.0
3028 Retinal atrophy, cone-rod dystrophy, SPATA7-related 1 Target evidence 54.6
3038 Paw pad hyperkeratosis, GJB6-related 1 Target evidence 57.9
3039 Curly coat, KRT25-related 1 Target evidence 53.0
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
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
3072 Polysynovitis, HYAL1-related 1 Target evidence 56.3
3080 Dystroglycanopathy, POMT1-related 1 Target evidence 57.8
3081 Usher syndrome, WHRN-related 1 Target evidence 53.8