Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.460 GeneticVariation BEFREE The diagnosis was congenital adrenal hyperplasia with apparent combined P450c17 and P450c21 deficiency due to mutations in the POR gene. 27376429

2016
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.460 GeneticVariation BEFREE Congenital adrenal hyperplasia was ruled out and molecular analysis of POR gene showed the missense mutation p.Gly539Arg in compound heterozygosity located at splice acceptor site of intron 2 and the coding variant p.Gly80Arg. 23878291

2013
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.460 GeneticVariation BEFREE Previously we have shown that mutations in human POR cause a rare form of congenital adrenal hyperplasia. 20732302

2010
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.460 GeneticVariation BEFREE Mutations in human POR cause a rare form of congenital adrenal hyperplasia from diminished activities of steroid metabolizing P450s. 20849814

2010
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.460 GeneticVariation 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