Bestrophinopathy

Disease Term Disease ID Gene Symbol Classification References Source
Autosomal recessive bestrophinopathy 139455 BEST1 Causal Pathogenic evidence from ClinVar - ClinVar
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE C3888198 BEST1 Causal Pathogenic evidence from ClinVar 10788642, 10798642, 15452077, 18179881, 19375515, 19853238, 21273940, 21330666, 22422030, 26200502, 26333019, 26720466 ClinVar
CRB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23379534, 27258436, 28181551, 28819299 -
FTH1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19375515 -