BCL2, BCL2 apoptosis regulator, 596

N. diseases: 1456; N. variants: 27
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2279115
rs2279115
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0006826
Disease:
Malignant Neoplasms
0.060 GeneticVariation BEFREE A regulatory (-938C>A, rs2279115) single-nucleotide polymorphism in the inhibitory P2 BCL-2 gene promoter generates significantly different BCL-2 promoter activities and has been associated with different clinical outcomes in various malignancies. 25257838 2015
dbSNP: rs2279115
rs2279115
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0006826
Disease:
Malignant Neoplasms
0.060 GeneticVariation BEFREE Our results indicate that the BCL-2 rs2279115 genetic variant was associated with SCLC risk in Chinese populations and support the hypothesis that SNPs in regulatory regions of oncogenes might contribute to cancer susceptibility. 26311051 2016
dbSNP: rs2279115
rs2279115
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0006826
Disease:
Malignant Neoplasms
0.060 GeneticVariation BEFREE A functional single-nucleotide polymorphism (c.-938C>A, rs2279115) in the inhibitory P2 BCL2 gene promoter has been associated with clinical outcomes in various types of cancer. 28396899 2017
dbSNP: rs2279115
rs2279115
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0006826
Disease:
Malignant Neoplasms
0.060 GeneticVariation BEFREE This meta-analysis was performed to evaluate the relationships of Bcl-2 -938 C>A polymorphism (rs2279115) with susceptibility and prognosis of cancer. 25430556 2014
dbSNP: rs2279115
rs2279115
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0006826
Disease:
Malignant Neoplasms
0.060 GeneticVariation BEFREE Simultaneously, rs2279115 was correlated with a significantly higher risk of cancer prognosis in Asia but not in Caucasian. 28445963 2017
dbSNP: rs2279115
rs2279115
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0006826
Disease:
Malignant Neoplasms
0.060 GeneticVariation BEFREE Multiple functional BCL-2 genetic polymorphisms, such as rs2279115, rs1801018 and rs1564483, have been identified previously and might be involved in cancer development through deregulating BCL-2 expression. 26132559 2015
dbSNP: rs2279115
rs2279115
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C1306459
Disease:
Primary malignant neoplasm
0.050 GeneticVariation BEFREE A functional single-nucleotide polymorphism (c.-938C>A, rs2279115) in the inhibitory P2 BCL2 gene promoter has been associated with clinical outcomes in various types of cancer. 28396899 2017
dbSNP: rs2279115
rs2279115
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C1306459
Disease:
Primary malignant neoplasm
0.050 GeneticVariation BEFREE This meta-analysis was performed to evaluate the relationships of Bcl-2 -938 C>A polymorphism (rs2279115) with susceptibility and prognosis of cancer. 25430556 2014
dbSNP: rs2279115
rs2279115
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C1306459
Disease:
Primary malignant neoplasm
0.050 GeneticVariation BEFREE Multiple functional BCL-2 genetic polymorphisms, such as rs2279115, rs1801018 and rs1564483, have been identified previously and might be involved in cancer development through deregulating BCL-2 expression. 26132559 2015
dbSNP: rs2279115
rs2279115
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C1306459
Disease:
Primary malignant neoplasm
0.050 GeneticVariation BEFREE Simultaneously, rs2279115 was correlated with a significantly higher risk of cancer prognosis in Asia but not in Caucasian. 28445963 2017
dbSNP: rs2279115
rs2279115
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C1306459
Disease:
Primary malignant neoplasm
0.050 GeneticVariation BEFREE Our results indicate that the BCL-2 rs2279115 genetic variant was associated with SCLC risk in Chinese populations and support the hypothesis that SNPs in regulatory regions of oncogenes might contribute to cancer susceptibility. 26311051 2016
dbSNP: rs747504890
rs747504890
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE Taken together, these data demonstrate the dual therapeutic effects of G129R-endostatin, and suggests that this fusion protein has great promise as a novel anti-breast cancer agent. 12839947 2003
dbSNP: rs747504890
rs747504890
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0678222
Disease:
Breast Carcinoma
0.030 GeneticVariation BEFREE Taken together, these data demonstrate the dual therapeutic effects of G129R-endostatin, and suggests that this fusion protein has great promise as a novel anti-breast cancer agent. 12839947 2003
dbSNP: rs747504890
rs747504890
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0678222
Disease:
Breast Carcinoma
0.030 GeneticVariation BEFREE To gain insight into the molecular basis of human prolactin (hPRL) antagonist induced apoptosis, we compared the differential gene expression profile of four human breast cancer cell lines following treatment with hPRL and its antagonist (hPRL-G129R). 12140755 2002
dbSNP: rs747504890
rs747504890
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE Thus, hPRL-G129R-induced breast cancer cell and/or mammary gland apoptosis is mediated, at least in part, through the regulation of Bax and Bcl-2 gene expression. 14647416 2004
dbSNP: rs747504890
rs747504890
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0678222
Disease:
Breast Carcinoma
0.030 GeneticVariation BEFREE Thus, hPRL-G129R-induced breast cancer cell and/or mammary gland apoptosis is mediated, at least in part, through the regulation of Bax and Bcl-2 gene expression. 14647416 2004
dbSNP: rs747504890
rs747504890
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE To gain insight into the molecular basis of human prolactin (hPRL) antagonist induced apoptosis, we compared the differential gene expression profile of four human breast cancer cell lines following treatment with hPRL and its antagonist (hPRL-G129R). 12140755 2002
dbSNP: rs956572
rs956572
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0005586
Disease:
Bipolar Disorder
0.030 GeneticVariation BEFREE Here, we compared ACC Glu levels in BD-euthymia compared with healthy subjects using (1)H-MRS and also evaluated the selective role of the rs956572 Bcl-2 SNP in modulating ACC Glu and Glx (sum of Glu and glutamine) in euthymic-BD. 23072837 2013
dbSNP: rs956572
rs956572
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0005586
Disease:
Bipolar Disorder
0.030 GeneticVariation BEFREE Although rs956572 variation was not significantly associated with BD, BD-I, or BD-II, BLCL [Ca(2+) ](B) was significantly higher in BD-I G/G patients compared with other genotypes and with healthy subjects. 21320251 2011
dbSNP: rs956572
rs956572
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0005586
Disease:
Bipolar Disorder
0.030 GeneticVariation BEFREE Our study further supports the association of SNP rs1006737 with BD-I and suggests that CACNA1C SNP rs1006737 and Bcl-2 SNP rs956572, or specific causal variants in LD with these proxies, act independently to increase risk and ICDH in BD-I. 25843436 2016
dbSNP: rs17757541
rs17757541
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0079731
Disease:
B-Cell Lymphomas
0.020 GeneticVariation BEFREE B-cell Lymphoma 2 rs17757541 C>G polymorphism was associated with an increased risk of gastric cardiac adenocarcinoma in a Chinese population. 23991993 2013
dbSNP: rs17757541
rs17757541
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0079731
Disease:
B-Cell Lymphomas
0.020 GeneticVariation BEFREE B-cell lymphoma 2 rs17757541 C>G polymorphism was associated with an increased risk of coronary artery disease in a Chinese population. 26823859 2015
dbSNP: rs1800477
rs1800477
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0152018
Disease:
Esophageal carcinoma
0.020 GeneticVariation BEFREE Role of BCL2 (ala43thr), CCND1 (G870A) and FAS (A-670G) polymorphisms in modulating the risk of developing esophageal cancer. 17561354 2007
dbSNP: rs1800477
rs1800477
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0546837
Disease:
Malignant neoplasm of esophagus
0.020 GeneticVariation BEFREE Role of BCL2 (ala43thr), CCND1 (G870A) and FAS (A-670G) polymorphisms in modulating the risk of developing esophageal cancer. 17561354 2007
dbSNP: rs1800477
rs1800477
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0546837
Disease:
Malignant neoplasm of esophagus
0.020 GeneticVariation BEFREE The purpose of the present study was to investigate the polymorphisms of -938C/A, Thr43Ala in anti-apoptotic B-cell lymphoma 2 gene (BCL2) and -248G/A in pro-apoptotic B-cell lymphoma 2-associated X protein gene (BAX) and to explore their role in influencing the susceptibility for development of esophageal cancer. 22187149 2012