BAX, BCL2 associated X, apoptosis regulator, 581

N. diseases: 420; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1805419
rs1805419
Entrez Id: 581
Gene Symbol: BAX
BAX
CUI: C0200638
Disease:
Eosinophil count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4645881
rs4645881
Entrez Id: 581
Gene Symbol: BAX
BAX
CUI: C0200641
Disease:
Blood basophil count (lab test)
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs4645881
rs4645881
Entrez Id: 581
Gene Symbol: BAX
BAX
CUI: C0200638
Disease:
Eosinophil count procedure
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs398122513
rs398122513
Entrez Id: 581
Gene Symbol: BAX
BAX
CUI: C1961099
Disease:
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
A 0.700 CausalMutation CLINVAR
dbSNP: rs398122840
rs398122840
Entrez Id: 581
Gene Symbol: BAX
BAX
CUI: C1961099
Disease:
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
T 0.700 CausalMutation CLINVAR
dbSNP: rs398122840
rs398122840
Entrez Id: 581
Gene Symbol: BAX
BAX
CUI: C0009402
Disease:
Colorectal Carcinoma
TG 0.700 CausalMutation CLINVAR
dbSNP: rs398122840
rs398122840
Entrez Id: 581
Gene Symbol: BAX
BAX
CUI: C0009402
Disease:
Colorectal Carcinoma
T 0.700 CausalMutation CLINVAR
dbSNP: rs4645878
rs4645878
Entrez Id: 581
Gene Symbol: BAX
BAX
CUI: C0271055
Disease:
Rhegmatogenous retinal detachment
0.020 GeneticVariation BEFREE This is the first study evaluating the potential relationship between BCL2 and BAX gene polymorphisms and RRD in a Greek population, showing a significant association between BAX rs4645878 polymorphism and RRD susceptibility. 28877516 2017
dbSNP: rs4645878
rs4645878
Entrez Id: 581
Gene Symbol: BAX
BAX
CUI: C0271055
Disease:
Rhegmatogenous retinal detachment
0.020 GeneticVariation BEFREE A case-control gene association study, as a part of Retina 4 project, was designed. rs2279115 and rs4645878 polymorphisms were analysed in 555 samples from patients with RRD (134 with PVR secondary to surgery). 25991504 2015
dbSNP: rs4645878
rs4645878
Entrez Id: 581
Gene Symbol: BAX
BAX
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE Prognostic value and susceptibility of BAX rs4645878 polymorphism in cancer: A systematic review and meta-analysis. 30024563 2018
dbSNP: rs4645878
rs4645878
Entrez Id: 581
Gene Symbol: BAX
BAX
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE Prognostic value and susceptibility of BAX rs4645878 polymorphism in cancer: A systematic review and meta-analysis. 30024563 2018
dbSNP: rs377294979
rs377294979
Entrez Id: 581
Gene Symbol: BAX
BAX
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE A novel germline TP53 mutation p.Pro190Arg detected in a patient with lung and bilateral breast cancers. 28499267 2017
dbSNP: rs4645878
rs4645878
Entrez Id: 581
Gene Symbol: BAX
BAX
CUI: C0242852
Disease:
Proliferative vitreoretinopathy
0.010 GeneticVariation BEFREE Results suggest that A allele of rs4645878 could be a biomarker of high risk of developing PVR in patients undergoing RD surgery. 25991504 2015
dbSNP: rs4645878
rs4645878
Entrez Id: 581
Gene Symbol: BAX
BAX
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE This study investigated the association of BCL2-938C>A(rs2279115) and BAX-248G>A(rs4645878) promoter region SNPs and the clinical responses and outcomes of 235 non-small cell lung cancer (NSCLC) patients treated with platinum-based chemotherapy. 26656462 2015
dbSNP: rs1009316
rs1009316
Entrez Id: 581
Gene Symbol: BAX
BAX
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE We found that the C allele of rs1009316 in Bax and rs762624 in CDKN1A can decrease the risk of ESCC. 24474449 2014
dbSNP: rs1039312028
rs1039312028
Entrez Id: 581
Gene Symbol: BAX
BAX
CUI: C0024305
Disease:
Lymphoma, Non-Hodgkin
0.010 GeneticVariation BEFREE The aim of this study was to investigate whether polymorphisms of - 938C/A and Thr43Ala in the BCL-2 gene and G - 248A in the BAX gene are associated with the risk of developing non-Hodgkin lymphoma (NHL). 24024471 2014
dbSNP: rs573226978
rs573226978
Entrez Id: 581
Gene Symbol: BAX
BAX
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE The V122A mutant was able to re-activate transactivation of various p53 tumor mutants and retained growth inhibition when co-expressed with dominant-negative tumor mutations. 11423991 2001