Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1583
Gene Symbol: CYP11A1
CYP11A1
0.310 GeneticVariation group BEFREE We performed mutational analysis of CYP11A1 in individuals with 46,XY disorders of sex development and primary adrenal failure, followed by functional studies of P450scc activity and of P450scc RNA splicing. 18182448 2008
Entrez Id: 1583
Gene Symbol: CYP11A1
CYP11A1
0.310 Biomarker group CTD_human Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency. 11502818 2001