POR, cytochrome p450 oxidoreductase, 5447

N. diseases: 218; N. variants: 21
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72552772
rs72552772
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C1860042
Disease:
Antley-Bixler Syndrome with Disordered Steroidogenesis 		0.800 GeneticVariation UNIPROT Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. 14758361 2004
dbSNP: rs72552772
rs72552772
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C1860042
Disease:
Antley-Bixler Syndrome with Disordered Steroidogenesis 		0.800 GeneticVariation UNIPROT Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study. 15220035 2004
dbSNP: rs72552772
rs72552772
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C1860042
Disease:
Antley-Bixler Syndrome with Disordered Steroidogenesis 		T 0.800 CausalMutation CLINVAR
dbSNP: rs28931608
rs28931608
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C1860042
Disease:
Antley-Bixler Syndrome with Disordered Steroidogenesis 		0.720 GeneticVariation BEFREE We examined longitudinal serum and urine steroid metabolite profiles in a 46,XY infant with PORD who was prenatally identified because of the progressive fetal masculinization and maternal virilization from the mid-gestation and the presence of fetal radio-humeral synostosis and was confirmed to have compound heterozygous mutations of POR (p.Q201X and p.R457H). 29289577 2018
dbSNP: rs28931608
rs28931608
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C1860042
Disease:
Antley-Bixler Syndrome with Disordered Steroidogenesis 		A 0.720 CausalMutation CLINVAR A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene. 28841001 2017
dbSNP: rs28931608
rs28931608
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C1860042
Disease:
Antley-Bixler Syndrome with Disordered Steroidogenesis 		0.720 GeneticVariation BEFREE We first studied three patients (cases 1-3) with POR deficiency due to compound heterozygosity with an p.R457H mutation and transcription failure of an apparently normal allele, by oligoarray comparative genomic hybridization and serial direct sequencing of the deletion fusion points. 21900384 2011
dbSNP: rs28931608
rs28931608
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C1860042
Disease:
Antley-Bixler Syndrome with Disordered Steroidogenesis 		A 0.720 CausalMutation CLINVAR Effects of genetic variants of human P450 oxidoreductase on catalysis by CYP2D6 in vitro. 20940534 2010
dbSNP: rs28931608
rs28931608
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C1860042
Disease:
Antley-Bixler Syndrome with Disordered Steroidogenesis 		A 0.720 CausalMutation CLINVAR Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency. 20124576 2010
dbSNP: rs28931608
rs28931608
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C1860042
Disease:
Antley-Bixler Syndrome with Disordered Steroidogenesis 		A 0.720 CausalMutation CLINVAR Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. 15483095 2005
dbSNP: rs28931608
rs28931608
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C1860042
Disease:
Antley-Bixler Syndrome with Disordered Steroidogenesis 		A 0.720 CausalMutation CLINVAR Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. 14758361 2004
dbSNP: rs28931608
rs28931608
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C1860042
Disease:
Antley-Bixler Syndrome with Disordered Steroidogenesis 		A 0.720 GeneticVariation CLINVAR Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. 14758361 2004
dbSNP: rs121912974
rs121912974
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C1860042
Disease:
Antley-Bixler Syndrome with Disordered Steroidogenesis 		0.710 GeneticVariation BEFREE Current studies demonstrate that, unlike previously described mutations, A287P causes POR deficiency disorder due to conformational instability leading to proteolytic susceptibility in vivo, rather than through an inherent flavin-binding defect. 27496950 2016
dbSNP: rs121912974
rs121912974
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C1860042
Disease:
Antley-Bixler Syndrome with Disordered Steroidogenesis 		C 0.710 CausalMutation CLINVAR
dbSNP: rs187104447
rs187104447
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C0200638
Disease:
Eosinophil count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs41301394
rs41301394
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C0017654
Disease:
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
dbSNP: rs41301394
rs41301394
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C0017654
Disease:
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs41301394
rs41301394
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C0596887
Disease:
mathematical ability 		T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs781805159
rs781805159
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C1860042
Disease:
Antley-Bixler Syndrome with Disordered Steroidogenesis 		G 0.700 GeneticVariation CLINVAR Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. 22162478 2012
dbSNP: rs936203749
rs936203749
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C1860042
Disease:
Antley-Bixler Syndrome with Disordered Steroidogenesis 		C 0.700 GeneticVariation CLINVAR Mutations of human cytochrome P450 reductase differentially modulate heme oxygenase-1 activity and oligomerization. 21741353 2011
dbSNP: rs936203749
rs936203749
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C1860042
Disease:
Antley-Bixler Syndrome with Disordered Steroidogenesis 		C 0.700 GeneticVariation CLINVAR Altered heme catabolism by heme oxygenase-1 caused by mutations in human NADPH cytochrome P450 reductase. 20732302 2010
dbSNP: rs781805159
rs781805159
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C1860042
Disease:
Antley-Bixler Syndrome with Disordered Steroidogenesis 		G 0.700 GeneticVariation CLINVAR Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients. 19837910 2009
dbSNP: rs936203749
rs936203749
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C1860042
Disease:
Antley-Bixler Syndrome with Disordered Steroidogenesis 		C 0.700 GeneticVariation CLINVAR Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. 14758361 2004
dbSNP: rs121912974
rs121912974
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C3150099
Disease:
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS 		C 0.700 CausalMutation CLINVAR
dbSNP: rs121912975
rs121912975
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C3150099
Disease:
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121912976
rs121912976
Entrez Id: 5447
Gene Symbol: POR
POR
CUI: C3150099
Disease:
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS 		A 0.700 CausalMutation CLINVAR