Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5447
Gene Symbol: POR
POR
0.020 GeneticVariation disease BEFREE Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders caused by mutations in genes encoding the enzymes involved in one of the 5 steps of adrenal steroid synthesis or the electron donor P450 oxidoreductase (POR) enzyme. 20639616 2010
Entrez Id: 5447
Gene Symbol: POR
POR
0.020 GeneticVariation disease BEFREE Inactivating POR gene mutations are the cause of CAH manifesting with apparent combined CYP17A1-CYP21A2 deficiency. 19500762 2009