Disease Term Disease ID Gene Symbol Classification References Source
Leydig cell agenesis C0266432 LHCGR Causal Pathogenic evidence from ClinVar 7719343, 8559204, 9215288, 9514160, 9626144, 9626653, 12050206, 15372531, 15472221, 19551906 ClinVar
GTF2A1L Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
STON1-GTF2A1L Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -