XBP1, X-box binding protein 1, 7494

N. diseases: 234; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2239815
rs2239815
Entrez Id: 7494
Gene Symbol: XBP1
XBP1
CUI: C0014859
Disease:
Esophageal Neoplasms
T 0.800 GeneticVariation GWASCAT Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions. 22960999 2012
dbSNP: rs2239815
rs2239815
Entrez Id: 7494
Gene Symbol: XBP1
XBP1
CUI: C0014859
Disease:
Esophageal Neoplasms
T 0.800 GeneticVariation GWASDB Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions. 22960999 2012
dbSNP: rs2239815
rs2239815
Entrez Id: 7494
Gene Symbol: XBP1
XBP1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
T 0.700 GeneticVariation GWASCAT Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. 25129146 2014
dbSNP: rs2239815
rs2239815
Entrez Id: 7494
Gene Symbol: XBP1
XBP1
CUI: C0007137
Disease:
Squamous cell carcinoma
T 0.700 GeneticVariation GWASCAT Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions. 22960999 2012
dbSNP: rs1379560430
rs1379560430
Entrez Id: 7494
Gene Symbol: XBP1
XBP1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT
dbSNP: rs527564006
rs527564006
Entrez Id: 7494
Gene Symbol: XBP1
XBP1
CUI: C1275685
Disease:
Avellino corneal dystrophy
0.010 GeneticVariation BEFREE Granular corneal dystrophy type 2 (GCD2) is caused by a point mutation (R124H) in the transforming growth factor β-induced (TGFBI) gene. 27373828 2016
dbSNP: rs2269577
rs2269577
Entrez Id: 7494;84133
Gene Symbol: XBP1;ZNRF3
XBP1;ZNRF3
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE We recruited 663 Chinese patients with advanced NSCLC treated with platinum-based regimens and assessed the association between rs2269577 and clinical outcome. 23510626 2013
dbSNP: rs2269577
rs2269577
Entrez Id: 7494;84133
Gene Symbol: XBP1;ZNRF3
XBP1;ZNRF3
CUI: C0001418
Disease:
Adenocarcinoma
0.010 GeneticVariation BEFREE The G/G genotype of rs2269577 was significantly associated with severe gastrointestinal toxicity compared with the homozygous C/C genotype (P=0.012, odds ratio=2.755), particularly in the female, performance status 0-1, and adenocarcinoma subgroups. 23510626 2013
dbSNP: rs2269577
rs2269577
Entrez Id: 7494;84133
Gene Symbol: XBP1;ZNRF3
XBP1;ZNRF3
CUI: C0042900
Disease:
Vitiligo
0.010 GeneticVariation BEFREE Furthermore, we also found suggestive epistatic effect between rs2269577 and HLA-DRB1*07 allele on the development of vitiligo (p = 0.033). 19543371 2009
dbSNP: rs2269577
rs2269577
Entrez Id: 7494;84133
Gene Symbol: XBP1;ZNRF3
XBP1;ZNRF3
CUI: C1847835
Disease:
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
0.010 GeneticVariation BEFREE Furthermore, we also found suggestive epistatic effect between rs2269577 and HLA-DRB1*07 allele on the development of vitiligo (p = 0.033). 19543371 2009
dbSNP: rs770027749
rs770027749
Entrez Id: 7494
Gene Symbol: XBP1
XBP1
CUI: C0079744
Disease:
Diffuse Large B-Cell Lymphoma
0.010 GeneticVariation BEFREE A single-base substitution was found in exon 1 (227G>A) of the XBP1 gene in a patient with diffuse large B-cell lymphoma, resulting in a somatic missense mutation (R76K). 19380033 2009
dbSNP: rs770027749
rs770027749
Entrez Id: 7494
Gene Symbol: XBP1
XBP1
CUI: C1332201
Disease:
Adult Diffuse Large B-Cell Lymphoma
0.010 GeneticVariation BEFREE A single-base substitution was found in exon 1 (227G>A) of the XBP1 gene in a patient with diffuse large B-cell lymphoma, resulting in a somatic missense mutation (R76K). 19380033 2009
dbSNP: rs35873774
rs35873774
Entrez Id: 7494
Gene Symbol: XBP1
XBP1
CUI: C0009324
Disease:
Ulcerative Colitis
0.010 GeneticVariation BEFREE An association of XBP1 variants with both forms of human IBD (Crohn's disease and ulcerative colitis) was identified and replicated (rs35873774; p value 1.6 x 10(-5)) with novel, private hypomorphic variants identified as susceptibility factors. 18775308 2008
dbSNP: rs35873774
rs35873774
Entrez Id: 7494
Gene Symbol: XBP1
XBP1
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.010 GeneticVariation BEFREE An association of XBP1 variants with both forms of human IBD (Crohn's disease and ulcerative colitis) was identified and replicated (rs35873774; p value 1.6 x 10(-5)) with novel, private hypomorphic variants identified as susceptibility factors. 18775308 2008
dbSNP: rs35873774
rs35873774
Entrez Id: 7494
Gene Symbol: XBP1
XBP1
CUI: C0010346
Disease:
Crohn Disease
0.010 GeneticVariation BEFREE An association of XBP1 variants with both forms of human IBD (Crohn's disease and ulcerative colitis) was identified and replicated (rs35873774; p value 1.6 x 10(-5)) with novel, private hypomorphic variants identified as susceptibility factors. 18775308 2008