Disease Term Disease ID Gene Symbol Classification References Source
Choroideremia 180, C0008525 CHM Causal Pathogenic evidence from ClinVar 1302003, 7951216, 10447648, 12203991, 12827496, 16936131, 19427510, 21905166 ClinVar
PRPH2 Causal Pathogenic evidence from ClinVar - ClinVar
BEST1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EPHA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IMPG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IMPG2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
POU3F4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
UBE3B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -