rs1800477, BCL2

N. diseases: 12
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of esophagus
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
Esophageal carcinoma
CUI: C0152018
Disease: Esophageal carcinoma
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
Esophageal Neoplasms
CUI: C0014859
Disease: Esophageal Neoplasms
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
Esophageal carcinoma
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
Malignant neoplasm of esophagus
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
Esophageal Neoplasms
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
Fetal Alcohol Syndrome
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
Fetal Alcohol Syndrome
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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.010 GeneticVariation BEFREE Bcl-2 rs1800477A/G polymorphism may be related to the occurrence of CRC, and GG genotype could be a risk factor of poor prognosis in CRC. 28106544 2017
Secondary malignant neoplasm of lymph node
0.010 GeneticVariation BEFREE The GG genotype of rs1800477A/G was associated with lymph node metastasis and Dukes' staging of CRC (both P < 0.05). 28106544 2017
Lymphoma, Non-Hodgkin
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
B-Cell Lymphomas
CUI: C0079731
Disease: B-Cell Lymphomas
0.010 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
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.010 GeneticVariation BEFREE Quantification of HCV-RNA by real-time PCR was performed for every patient, and gene polymorphism of BCL-2 (ala 43 Thr) was performed for all patients and controls. 21159314 2011
Virus Diseases
CUI: C0042769
Disease: Virus Diseases
0.010 GeneticVariation BEFREE BCL-2 gene polymorphism at codon 43 (127G/A) has been found to be a reliable and sensitive marker for the prediction of response to interferon therapy during viral infections. 21159314 2011
Azoospermia
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
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