CDKN2B, cyclin dependent kinase inhibitor 2B, 1030

N. diseases: 440; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Thus, despite the association between the sporadic forms of high-grade glioma and abnormalities of p16(INK4A), p15(INK4B), or CDK4, we found no evidence that germ-line mutations in the coding region of these three genes predispose to inherited glial tumors. 9815774 1997
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci influencing glioma risk: rs2736100 (TERT), rs11979158 and rs2252586 (EGFR), rs4295627 (CCDC26), rs4977756 (CDKN2A/CDKN2B), rs498872 (PHLDB1), and rs6010620 (RTEL1). 23161787 2013
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE In analyses including glioma cases with a family history of brain tumours (n = 104) and control subjects free of glioma at baseline, three of seven SNPs were associated with glioma risk: rs2736100 (5p15.33, TERT), rs4977756 (9p21.3, CDKN2A-CDKN2B) and rs6010620 (20q13.33, RTEL1). 23115063 2013
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in five loci at 5p15.33 (rs2736100, TERT), 8q24.21 (rs4295627, CCDC26), 9p21.3 (rs4977756, CDKN2A/CDKN2B), 20q13.33 (rs6010620, RTEL1), and 11q23.3 (rs498872, PHLDB1) to be associated with glioma risk. 20847058 2010
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8q24.21 (rs4295627, CCDC26), 9p21.3 (rs4977756, CDKN2A-CDKN2B), 11q23.3 (rs498872, PHLDB1), and 20q13.33 (rs6010620, RTEL1) as determinants of glioma risk. 20462933 2010
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease GWASDB We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (rs4295627, CCDC26; P = 2.34 x 10(-18)), 9p21.3 (rs4977756, CDKN2A-CDKN2B; P = 7.24 x 10(-15)), 20q13.33 (rs6010620, RTEL1; P = 2.52 x 10(-12)) and 11q23.3 (rs498872, PHLDB1; P = 1.07 x 10(-8)). 19578367 2009
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (rs4295627, CCDC26; P = 2.34 x 10(-18)), 9p21.3 (rs4977756, CDKN2A-CDKN2B; P = 7.24 x 10(-15)), 20q13.33 (rs6010620, RTEL1; P = 2.52 x 10(-12)) and 11q23.3 (rs498872, PHLDB1; P = 1.07 x 10(-8)). 19578367 2009
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Beside CDKN2A, other genes (e.g., CDKN2B, and ARF/p14(ARF), long considered distinct from CDKN2A) on this locus are often deleted or mutated in a large number of tumors including glioma, bladder cancer, and lung cancer. 18406873 2008
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs2736100, TERT), 8q24.21 (rs4295627, CCDC26), 9p21.3 (rs4977756, CDKN2A-CDKN2B), 20q13.33 (rs6010620, RTEL1), and 11q23.3 (rs498872, PHLDB1), and two loci at 7p11.2 (rs11979158 and rs2252586, EGFR). 21825990 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE In order to test the candidacy of p16beta as a glioma suppressor, we replaced p16(INK4a), p15(INK4b) and p16beta wild-type as well as a series of seven glioma-derived p16beta alleles (R87H, A112V, R120H, A121V, G125R, A128A and A128V), into glioma cell lines that had either CDKN2A-/RB+ (U-87MG and U-251MG) or CDKN2A+/RB- (LN-319) endogenous backgrounds and demonstrated that p16beta can act as a functional glioma cell growth suppressor. 9366518 1997
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease GWASDB Chromosome 7p11.2 (EGFR) variation influences glioma risk. 21531791 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Three of the gene variants (rs4295627, a variant of CCDC26; rs4977756, a variant of CDKN2A and CDKN2B; and rs6010620, a variant of RTEL1) were statistically significantly associated with glioma risk in the present population. 21920947 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Data from 855 high-grade glioma cases and 1,160 controls from 4 geographic regions of the United States during 1997-2008 were analyzed for interactions between allergy and smoking histories and inherited variants in 5 established glioma risk regions: 5p15.3 (TERT), 8q24.21 (CCDC26/MLZE), 9p21.3 (CDKN2B), 11q23.3 (PHLDB1/DDX6), and 20q13.3 (RTEL1). 21742680 2011
CUI: C0017638
Disease: Glioma
Glioma
0.700 GeneticVariation disease BEFREE Three adult glioma risk variants, rs634537, rs2157719, and rs145929329, all mapping to the 9p21.3 (<i>CDKN2B-AS1</i>) locus, were associated with glioma risk in children and AYA. 31040135 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(INK4a), ARF and ANRIL) was found in PBTL of individuals harboring a common SNP (rs10757278) associated with increased risk of coronary artery disease, stroke and aortic aneurysm. 19343170 2009
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE In this study, we verify the association between the rs1333049 single nucleotide polymorphism (9p21.3) within CDKN2A-CDKN2B and coronary artery disease (CAD) in an Italian population. 28639227 2017
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Four SNPs, rs4977574_A [0.56(0.50-0.63); p < 0.0001], rs10757274_A [0.87(0.77-0.97); p = 0.014], rs10738607_A [0.89(0.80-1.00); p = 0.043] and rs1333045_T [0.54(0.48-0.61); p < 0.0001] residing on the CDKN2B gene were significantly associated with CAD following multivariate adjustments for MI, HTN and DM, while four others were weakly associated with the disease. 29894795 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Elevated methylation of cyclin dependent kinase inhibitor 2B contributes to the risk of coronary heart disease in women. 30651784 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE This is the first report of a CAD association signal in a population of African ancestry with a common variant within the CDKN2B gene, independent from previous findings in European and East Asian ancestry populations. 21270820 2011
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease GWASDB Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. 24262325 2014
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Genome-wide association studies have identified a coronary artery disease (CAD) risk locus in a non-coding region at 9p21.3, the nearest genes being CDKN2A and CDKN2B. 22768093 2012
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Our thorough genomic characterization of 9p21.3 suggests common variants likely account for observed disease associations and provides further support for the hypothesis that complex regulatory variation affecting ANRIL and CDKN2B gene expression may contribute to increased risk for clinically apparent and subclinical coronary artery disease and aortic disease. 23315372 2013
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Recently, genome-wide association studies on coronary artery disease (CAD) identified a series of associated single-nucleotide polymorphisms (SNPs) in an intergenic region of chromosome 9p21.3, near the CDKN2A and CDKN2B genes. 23086272 2013
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 GeneticVariation disease BEFREE Recently independent studies reported an association between coronary heart disease and single-nucleotide polymorphisms (SNPs) located at chromosome 9p21, near CDKN2A and CDKN2B genes. 18340101 2008