Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1583
Gene Symbol: CYP11A1
CYP11A1
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.020 Biomarker BEFREE Whole exome sequencing in patients negative for MC2R, MRAP and STAR mutations, identified mutations in minichromosome maintenance 4 MCM4, nicotinamide nucleotide transhydrogenase NNT, thioredoxin reductase 2 TXNRD2, cytochrome p450scc CYP11A1, and sphingosine 1-phosphate lyase SGPL1 accounting for a further 10% of FGD. 30817990

2019
Entrez Id: 1583
Gene Symbol: CYP11A1
CYP11A1
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.020 GeneticVariation BEFREE Also mutations in STAR and CYP11A1 can sometimes present with a phenotype resembling FGD. 26548497

2015