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: rs1800477
rs1800477
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent
0.010 GeneticVariation BEFREE In contrast to what was observed in Japanese diabetic/control individuals, we find no evidence for association of the BCL2 Ala43Thr polymorphism to T1DM in Danish, Finnish and Basque Type 1 diabetes families. 11704806 2001
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 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 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: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE G129R-endostatin has a significantly prolonged serum half-life as compared with that of G129R or endostatin alone, and exhibited greater tumor inhibitory effects than G129R and endostatin individually or in combination. 12839947 2003
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: 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: C0014859
Disease:
Esophageal Neoplasms
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: C0015923
Disease:
Fetal Alcohol Syndrome
0.020 GeneticVariation BEFREE Genotyping of BCL2 (ala43thr), FAS (A-670G), CCND1 (G870A), EGF (+61A/G) and EGFR (G497A) polymorphisms were determined using the polymerase chain reaction followed by restriction fragment length polymorphism methodology. 17912028 2007
dbSNP: rs1800477
rs1800477
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0015923
Disease:
Fetal Alcohol Syndrome
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: rs1310296388
rs1310296388
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0079154
Disease:
Congenital Nonbullous Ichthyosiform Erythroderma
0.010 GeneticVariation BEFREE Because of evidences that transglutaminase enzymes are involved in programmed cell death, we investigated morphological and biochemical apoptotic parameters in cultured skin fibroblasts from a patient with a severe LI and homozygous for the TGM1 R142H mutation. 19278426 2009
dbSNP: rs1801018
rs1801018
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
0.010 GeneticVariation BEFREE In the multivariate logistic model with these SNPs and covariates, only BCL2 (rs1801018) was significantly associated with the susceptibility to CML (P = .05; odds ratio [OR] 2.16 [1.00-4.68]). 19141860 2009
dbSNP: rs12454712
rs12454712
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0003469
Disease:
Anxiety Disorders
0.010 GeneticVariation BEFREE BCL2 rs12454712 (p = .0029) and DRD2 rs4245146 (p = .0010) showed evidence for association to generalized anxiety disorder, whereas rs2463107 (p = .0064) in PAWR and rs4245146 (p = .0029) in DRD2 showed evidence for association to the pooled group of all anxiety disorders. 20122683 2010
dbSNP: rs12454712
rs12454712
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0270549
Disease:
Generalized Anxiety Disorder
0.010 GeneticVariation BEFREE BCL2 rs12454712 (p = .0029) and DRD2 rs4245146 (p = .0010) showed evidence for association to generalized anxiety disorder, whereas rs2463107 (p = .0064) in PAWR and rs4245146 (p = .0029) in DRD2 showed evidence for association to the pooled group of all anxiety disorders. 20122683 2010
dbSNP: rs1800477
rs1800477
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0004509
Disease:
Azoospermia
0.010 GeneticVariation BEFREE Considering the decreased antiapoptotic function of BCL2, these results suggest that the Ala43Thr variant is associated with protection against azoospermia in the Han-Chinese population. 20610805 2010
dbSNP: rs780634396
rs780634396
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE To show the involvement of AKT1(E17K) directly in v-Abl-mediated tumorigenesis, we infected bone marrow cells from mice with bicistronic retroviruses encoding v-Abl and either wild-type or the mutant AKT1. 20440266 2010
dbSNP: rs780634396
rs780634396
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C1332977
Disease:
Childhood Leukemia
0.010 GeneticVariation BEFREE Recently, the E17K mutation in the AKT1 has been associated with multiple human malignancies and leukemia in mice. 20440266 2010
dbSNP: rs780634396
rs780634396
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE Recently, the E17K mutation in the AKT1 has been associated with multiple human malignancies and leukemia in mice. 20440266 2010
dbSNP: rs780634396
rs780634396
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C1292769
Disease:
Precursor B-cell lymphoblastic leukemia
0.010 GeneticVariation BEFREE Oncogenic E17K mutation in the pleckstrin homology domain of AKT1 promotes v-Abl-mediated pre-B-cell transformation and survival of Pim-deficient cells. 20440266 2010
dbSNP: rs780634396
rs780634396
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0023418
Disease:
leukemia
0.010 GeneticVariation BEFREE Recently, the E17K mutation in the AKT1 has been associated with multiple human malignancies and leukemia in mice. 20440266 2010
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: C0853193
Disease:
Bipolar I disorder
0.020 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