BCL2L11, BCL2 like 11, 10018

N. diseases: 173; N. variants: 16
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17041868
rs17041868
Entrez Id: 10018;541471
Gene Symbol: BCL2L11;MIR4435-2HG
BCL2L11;MIR4435-2HG
CUI: C0205682
Disease:
Waist-Hip Ratio
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: rs3761706
rs3761706
Entrez Id: 10018;541471
Gene Symbol: BCL2L11;MIR4435-2HG
BCL2L11;MIR4435-2HG
CUI: C0205682
Disease:
Waist-Hip Ratio
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs56952027
rs56952027
Entrez Id: 10018;55289;541471
Gene Symbol: BCL2L11;ACOXL;MIR4435-2HG
BCL2L11;ACOXL;MIR4435-2HG
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs72836346
rs72836346
Entrez Id: 10018;55289;541471
Gene Symbol: BCL2L11;ACOXL;MIR4435-2HG
BCL2L11;ACOXL;MIR4435-2HG
CUI: C0200638
Disease:
Eosinophil count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11691517
rs11691517
Entrez Id: 10018;541471
Gene Symbol: BCL2L11;MIR4435-2HG
BCL2L11;MIR4435-2HG
CUI: C0600139
Disease:
Prostate carcinoma
T 0.700 GeneticVariation GWASCAT Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. 29892016 2018
dbSNP: rs17041868
rs17041868
Entrez Id: 10018;541471
Gene Symbol: BCL2L11;MIR4435-2HG
BCL2L11;MIR4435-2HG
CUI: C0205682
Disease:
Waist-Hip Ratio
C 0.700 GeneticVariation GWASCAT Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors. 30575882 2018
dbSNP: rs56366063
rs56366063
Entrez Id: 10018;541471
Gene Symbol: BCL2L11;MIR4435-2HG
BCL2L11;MIR4435-2HG
CUI: C0600139
Disease:
Prostate carcinoma
C 0.700 GeneticVariation GWASCAT Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. 29892016 2018
dbSNP: rs71801447
rs71801447
Entrez Id: 10018;541471
Gene Symbol: BCL2L11;MIR4435-2HG
BCL2L11;MIR4435-2HG
CUI: C0678222
Disease:
Breast Carcinoma
C 0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
dbSNP: rs17484848
rs17484848
Entrez Id: 10018;541471
Gene Symbol: BCL2L11;MIR4435-2HG
BCL2L11;MIR4435-2HG
CUI: C0200641
Disease:
Blood basophil count (lab test)
C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs17484848
rs17484848
Entrez Id: 10018;541471
Gene Symbol: BCL2L11;MIR4435-2HG
BCL2L11;MIR4435-2HG
CUI: C0200638
Disease:
Eosinophil 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: rs6734942
rs6734942
Entrez Id: 10018;541471
Gene Symbol: BCL2L11;MIR4435-2HG
BCL2L11;MIR4435-2HG
CUI: C0750880
Disease:
Monocyte count result
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs6734942
rs6734942
Entrez Id: 10018;541471
Gene Symbol: BCL2L11;MIR4435-2HG
BCL2L11;MIR4435-2HG
CUI: C0200637
Disease:
Monocyte 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: rs68021656
rs68021656
Entrez Id: 10018;541471
Gene Symbol: BCL2L11;MIR4435-2HG
BCL2L11;MIR4435-2HG
CUI: C0206161
Disease:
Reticulocyte count (procedure)
GT 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs9308731
rs9308731
Entrez Id: 10018;541471
Gene Symbol: BCL2L11;MIR4435-2HG
BCL2L11;MIR4435-2HG
CUI: C0855095
Disease:
Small Lymphocytic Lymphoma
A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia. 26956414 2016
dbSNP: rs9308731
rs9308731
Entrez Id: 10018;541471
Gene Symbol: BCL2L11;MIR4435-2HG
BCL2L11;MIR4435-2HG
CUI: C0023434
Disease:
Chronic Lymphocytic Leukemia
A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia. 26956414 2016
dbSNP: rs17041869
rs17041869
Entrez Id: 10018;541471
Gene Symbol: BCL2L11;MIR4435-2HG
BCL2L11;MIR4435-2HG
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE Meta-analyses combining the largest GWA meta-analysis data sets for these cancers totaling 112,349 cases and 116,421 controls of European ancestry, all together and in pairs, identified at P < 10(-8) seven new cross-cancer loci: three associated with susceptibility to all three cancers (rs17041869/2q13/BCL2L11; rs7937840/11q12/INCENP; rs1469713/19p13/GATAD2A), two breast and ovarian cancer risk loci (rs200182588/9q31/SMC2; rs8037137/15q26/RCCD1), and two breast and prostate cancer risk loci (rs5013329/1p34/NSUN4; rs9375701/6q23/L3MBTL3). 27432226 2016
dbSNP: rs1296169581
rs1296169581
Entrez Id: 10018;541471
Gene Symbol: BCL2L11;MIR4435-2HG
BCL2L11;MIR4435-2HG
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Five of the 7 (71%) responders were BRAF(WT), of which 1 carried c-KIT(L576P) and another N-RAS(Q61R) mutation, while only 2 (29%) of the responding tumors were BRAF(V600E/K). 22351689 2012
dbSNP: rs3789068
rs3789068
Entrez Id: 10018;541471
Gene Symbol: BCL2L11;MIR4435-2HG
BCL2L11;MIR4435-2HG
CUI: C0024305
Disease:
Lymphoma, Non-Hodgkin
0.010 GeneticVariation BEFREE A meta-analysis was performed on data from 5633 B-cell NHL cases and 7034 controls from 8 InterLymph studies. rs3789068 in the proapoptotic BCL2L11 gene was associated with an increased risk for B-cell NHL (odds ratio = 1.21, P random = 2.21 × 10(-11)), with similar risk estimates for common B-cell subtypes. 23047821 2012
dbSNP: rs374980122
rs374980122
Entrez Id: 10018;541471
Gene Symbol: BCL2L11;MIR4435-2HG
BCL2L11;MIR4435-2HG
CUI: C0025202
Disease:
melanoma
0.010 GeneticVariation BEFREE In summary, this report indicates that N-RAS(Q61K) and B-RAF(V600E) contribute to melanoma's resistance to apoptosis in part by downregulating Bim expression, suggesting that Bim is a possible treatment target for overriding melanoma's inherent defenses against cell death. 18668139 2009
dbSNP: rs3789068
rs3789068
Entrez Id: 10018;541471
Gene Symbol: BCL2L11;MIR4435-2HG
BCL2L11;MIR4435-2HG
CUI: C0024301
Disease:
Lymphoma, Follicular
0.010 GeneticVariation BEFREE Variants in BCL2L11 were strongly related to follicular lymphoma only, particularly rs3789068 (OR(AG), 1.41; 95% CI, 1.10-1.81; OR(GG), 1.65; 95% CI, 1.25-2.19; P(trend) = 0.0004). 19336552 2009
dbSNP: rs770692189
rs770692189
Entrez Id: 10018;541471
Gene Symbol: BCL2L11;MIR4435-2HG
BCL2L11;MIR4435-2HG
CUI: C1328840
Disease:
Autoimmune Lymphoproliferative Syndrome
0.010 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660 2007
dbSNP: rs770692189
rs770692189
Entrez Id: 10018;541471
Gene Symbol: BCL2L11;MIR4435-2HG
BCL2L11;MIR4435-2HG
CUI: C0376545
Disease:
Hematologic Neoplasms
0.010 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660 2007