rs28931606, POR

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
CUI: C3150099
Disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
0.700 CausalMutation CLINVAR
Antley-Bixler Syndrome, Autosomal Dominant
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
0.010 GeneticVariation BEFREE Y459H and V492E mutations of cytochrome P450 reductase (CYPOR) cause Antley-Bixler syndrome due to diminished binding of the FAD cofactor. 18455494 2008
CONSTRICTING BANDS, CONGENITAL
CUI: C0220724
Disease: CONSTRICTING BANDS, CONGENITAL
0.010 GeneticVariation BEFREE Based on these findings, decreased FAD-binding affinity is proposed as the basis of the observed loss of CYPOR function in the Y459H and V492E POR mutations in ABS. 16998238 2006