GSR, glutathione-disulfide reductase, 2936

N. diseases: 206; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149176864
rs149176864
Entrez Id: 2936
Gene Symbol: GSR
GSR
CUI: C0600139
Disease:
Prostate carcinoma
0.700 GeneticVariation GWASCAT Radiogenomics Consortium Genome-Wide Association Study Meta-Analysis of Late Toxicity After Prostate Cancer Radiotherapy. 31095341 2020
dbSNP: rs8191030
rs8191030
Entrez Id: 2936
Gene Symbol: GSR
GSR
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs8191030
rs8191030
Entrez Id: 2936
Gene Symbol: GSR
GSR
CUI: C0428474
Disease:
Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs1002149
rs1002149
Entrez Id: 2936;7993
Gene Symbol: GSR;UBXN8
GSR;UBXN8
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.010 GeneticVariation BEFREE In our population, a significant associations of KEAP1 (rs1048290) (P = 0.0015, OR = 0.72 in additive model), HSPA1A (rs1008438) (P = 0.006, OR = 2.26 in recessive model), GSR (rs1002149) (P = 0.037, OR = 1.31 in additive model) with COPD were revealed. 30641209 2019
dbSNP: rs1327650371
rs1327650371
Entrez Id: 2936
Gene Symbol: GSR
GSR
CUI: C0002876
Disease:
Congenital dyserythropoietic anemia
0.010 GeneticVariation BEFREE Microarray analysis of CDA-erythroid cells and real-time polymerase chain reaction analysis of the KLF1 E325K inducible expression system also revealed altered expression of several KLF1 target genes including erythrocyte membrane protein band 4.1 (EPB41), EPB42, glutathione disulfide reductase (GSR), glucose phosphate isomerase (GPI), and ATPase phospholipid transporting 8A1 (ATP8A1). 30876823 2019
dbSNP: rs7818511
rs7818511
Entrez Id: 2936
Gene Symbol: GSR
GSR
CUI: C1853238
Disease:
Conotruncal defect
0.010 GeneticVariation BEFREE The paternally inherited copy of the GSR (rs7818511) A allele had a 0.31 (95%CI: 0.18, 0.53; p = 9.94 × 10<sup>-6</sup> ] risk of CTHD compared to children with the maternal copy of the same allele. 29399948 2018