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: rs12454712
rs12454712
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.800 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. 22325160 2012
dbSNP: rs12454712
rs12454712
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		T 0.800 GeneticVariation GWASCAT Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population. 30718926 2019
dbSNP: rs12454712
rs12454712
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		C 0.800 GeneticVariation GWASCAT Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. 28869590 2017
dbSNP: rs12454712
rs12454712
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
dbSNP: rs12454712
rs12454712
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0202236
Disease:
Triglycerides measurement 		T 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs12454712
rs12454712
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0205682
Disease:
Waist-Hip Ratio 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12454712
rs12454712
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C1305855
Disease:
Body mass index 		T 0.700 GeneticVariation GWASCAT A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci. 30108127 2018
dbSNP: rs12454712
rs12454712
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C1305855
Disease:
Body mass index 		T 0.700 GeneticVariation GWASCAT Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci. 27416945 2016
dbSNP: rs12454712
rs12454712
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs12454712
rs12454712
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C4049919
Disease:
Insulin Sensitivity Measurement 		T 0.700 GeneticVariation GWASCAT Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci. 27416945 2016
dbSNP: rs12454712
rs12454712
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C1305855
Disease:
Body mass index 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs12454712
rs12454712
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0206161
Disease:
Reticulocyte count (procedure) 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs12454712
rs12454712
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12454712
rs12454712
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C1305855
Disease:
Body mass index 		C 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. 28892062 2017
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: rs12457893
rs12457893
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0022660
Disease:
Kidney Failure, Acute 		0.010 GeneticVariation BEFREE Two of these were in the BCL2 gene and both were associated with a decreased risk of acute kidney injury (rs8094315: odds ratio 0.61, p = .0002; rs12457893: odds ratio 0.67, p = .0002, both for combined data). 22710204 2012
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: rs1473418
rs1473418
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0153381
Disease:
Malignant neoplasm of mouth 		0.010 GeneticVariation BEFREE In conclusion, three SNPs, rs1473418 in BCL2, rs1950252 in BCL2L2 and rs511044 in CASP1, are being implicated for the first time in oral cancer. 26403071 2015
dbSNP: rs1473418
rs1473418
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0220641
Disease:
Lip and Oral Cavity Carcinoma 		0.010 GeneticVariation BEFREE In conclusion, three SNPs, rs1473418 in BCL2, rs1950252 in BCL2L2 and rs511044 in CASP1, are being implicated for the first time in oral cancer. 26403071 2015
dbSNP: rs1564483
rs1564483
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.010 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: rs1564483
rs1564483
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE For BCL2, minor allele carriers of rs1564483 were more likely to have hormone receptor-positive tumours than the major homozygotes. 22037783 2012
dbSNP: rs1564483
rs1564483
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		0.010 GeneticVariation BEFREE Furthermore, advanced NSCLC males carrying BCL2 rs1564483 GA+AA genotypes had significantly longer median survival time (Long-rank P = 0.036) and decreased death risk (adjusted HR = 0.69, P = 0.027) than patients with rs1564483GG genotype. 23977251 2013
dbSNP: rs1564483
rs1564483
Entrez Id: 596
Gene Symbol: BCL2
BCL2
CUI: C0006826
Disease:
Malignant Neoplasms 		0.010 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: 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