TXNRD1, thioredoxin reductase 1, 7296

N. diseases: 136; N. variants: 21
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7975161
rs7975161
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
CUI: C0373721
Disease:
Selenium measurement
T 0.700 GeneticVariation GWASCAT Genome-wide association study of selenium concentrations. 25343990 2015
dbSNP: rs1166778729
rs1166778729
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
CUI: C0268596
Disease:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
0.010 GeneticVariation BEFREE These results help to clarify the molecular pathogenesis of MADD as a result of the high frequency of the <i>ETFDH</i> c.250G>A and c.92C>T mutations. 30709034 2019
dbSNP: rs779529169
rs779529169
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE On the one hand, the SNP rs2391191 corresponding to the R30K substitution in pLG72 was genetically linked to schizophrenia, reduced thickness of the brain cortex in schizophrenia-affected individuals, and altered memory function. 29417050 2018
dbSNP: rs1322643228
rs1322643228
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
CUI: C0005695
Disease:
Bladder Neoplasm
0.010 GeneticVariation BEFREE These findings have suggested that the NQO1 Pro187Ser or SULT1A1 Arg213His polymorphism combination with smoking significantly confer susceptibility to BC. 28589969 2017
dbSNP: rs1322643228
rs1322643228
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
CUI: C0005684
Disease:
Malignant neoplasm of urinary bladder
0.010 GeneticVariation BEFREE These findings have suggested that the NQO1 Pro187Ser or SULT1A1 Arg213His polymorphism combination with smoking significantly confer susceptibility to BC. 28589969 2017
dbSNP: rs1322643228
rs1322643228
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
CUI: C0699885
Disease:
Carcinoma of bladder
0.010 GeneticVariation BEFREE These findings have suggested that the NQO1 Pro187Ser or SULT1A1 Arg213His polymorphism combination with smoking significantly confer susceptibility to BC. 28589969 2017
dbSNP: rs377062126
rs377062126
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
CUI: C0005695
Disease:
Bladder Neoplasm
0.010 GeneticVariation BEFREE These findings have suggested that the NQO1 Pro187Ser or SULT1A1 Arg213His polymorphism combination with smoking significantly confer susceptibility to BC. 28589969 2017
dbSNP: rs377062126
rs377062126
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
CUI: C0699885
Disease:
Carcinoma of bladder
0.010 GeneticVariation BEFREE These findings have suggested that the NQO1 Pro187Ser or SULT1A1 Arg213His polymorphism combination with smoking significantly confer susceptibility to BC. 28589969 2017
dbSNP: rs377062126
rs377062126
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
CUI: C0005684
Disease:
Malignant neoplasm of urinary bladder
0.010 GeneticVariation BEFREE These findings have suggested that the NQO1 Pro187Ser or SULT1A1 Arg213His polymorphism combination with smoking significantly confer susceptibility to BC. 28589969 2017
dbSNP: rs748358920
rs748358920
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE The 811 C/T polymorphism in the 3' untranslated region of the selenoprotein 15-kDa (Sep15) gene and breast cancer in Caucasian women. 26264612 2016
dbSNP: rs748358920
rs748358920
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE The 811 C/T polymorphism in the 3' untranslated region of the selenoprotein 15-kDa (Sep15) gene and breast cancer in Caucasian women. 26264612 2016
dbSNP: rs1421865028
rs1421865028
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
0.010 GeneticVariation BEFREE In this report, we investigated the molecular mechanism underlying Leber's hereditary optic neuropathy (LHON)-associated mitochondrial m.3635G>A (p.S110N, ND1) mutation. 25194554 2014
dbSNP: rs759589565
rs759589565
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
CUI: C4551472
Disease:
Hypertrophic obstructive cardiomyopathy
0.010 GeneticVariation BEFREE The human mutation R120G in the αB-crystallin (CRYAB) causes a multisystemic disease that is characterized by hypertrophic cardiomyopathy and cytoplasmic protein aggregates. 24180415 2014
dbSNP: rs759589565
rs759589565
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
0.010 GeneticVariation BEFREE The human mutation R120G in the αB-crystallin (CRYAB) causes a multisystemic disease that is characterized by hypertrophic cardiomyopathy and cytoplasmic protein aggregates. 24180415 2014
dbSNP: rs778924100
rs778924100
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
CUI: C4551472
Disease:
Hypertrophic obstructive cardiomyopathy
0.010 GeneticVariation BEFREE The human mutation R120G in the αB-crystallin (CRYAB) causes a multisystemic disease that is characterized by hypertrophic cardiomyopathy and cytoplasmic protein aggregates. 24180415 2014
dbSNP: rs778924100
rs778924100
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
0.010 GeneticVariation BEFREE The human mutation R120G in the αB-crystallin (CRYAB) causes a multisystemic disease that is characterized by hypertrophic cardiomyopathy and cytoplasmic protein aggregates. 24180415 2014
dbSNP: rs17202060
rs17202060
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Four SNPs (GPX3 rs2070593, rsGPX4 rs2074451, SELS rs9874, and TXNRD1 rs17202060) significantly interacted with dietary oxidative balance score after adjustment for multiple comparisons to alter breast cancer risk. 24278290 2013
dbSNP: rs17202060
rs17202060
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Four SNPs (GPX3 rs2070593, rsGPX4 rs2074451, SELS rs9874, and TXNRD1 rs17202060) significantly interacted with dietary oxidative balance score after adjustment for multiple comparisons to alter breast cancer risk. 24278290 2013
dbSNP: rs763152962
rs763152962
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
CUI: C0001627
Disease:
Congenital adrenal hyperplasia
0.010 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
dbSNP: rs368849022
rs368849022
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
CUI: C0751651
Disease:
Mitochondrial Diseases
0.010 GeneticVariation BEFREE The discovery of the c.1054C>T; p.R352W mutation in the FOXRED1 gene is a further contribution towards resolving the complex puzzle of the genetic basis of human mitochondrial disease. 20858599 2010
dbSNP: rs4630362
rs4630362
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1
0.010 GeneticVariation BEFREE Resequencing of the exons and flanking regions identified 19 single-nucleotide polymorphisms (SNPs) of which 2, the intronic SNPs rs6539137 and rs4630362, were significantly associated with FALS. 18996185 2009
dbSNP: rs6539137
rs6539137
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1
0.010 GeneticVariation BEFREE Indeed the haplotypes with minor alleles at both rs10861192 and rs6539137, although present in FALS, were totally absent from controls. 18996185 2009
dbSNP: rs1205703563
rs1205703563
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
CUI: C0268287
Disease:
Deficiency of steroid 21-monooxygenase
0.010 GeneticVariation BEFREE Our objective was to study the functional and structural consequences of the novel CYP21A2 missense mutation c.364A > C (K121Q) detected in a female patient with nonclassical 21-hydroxylase deficiency. 18445671 2008
dbSNP: rs1205703563
rs1205703563
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
CUI: C2936858
Disease:
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
0.010 GeneticVariation BEFREE Our objective was to study the functional and structural consequences of the novel CYP21A2 missense mutation c.364A > C (K121Q) detected in a female patient with nonclassical 21-hydroxylase deficiency. 18445671 2008
dbSNP: rs1205703563
rs1205703563
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
CUI: C0852654
Disease:
21-hydroxylase deficiency
0.010 GeneticVariation BEFREE Our objective was to study the functional and structural consequences of the novel CYP21A2 missense mutation c.364A > C (K121Q) detected in a female patient with nonclassical 21-hydroxylase deficiency. 18445671 2008