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 CausalMutation disease CGI
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 GenomicAlterations disease CGI
CUI: C0017638
Disease: Glioma
Glioma
0.700 Biomarker disease CTD_human 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 Biomarker disease CTD_human Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility. 19578366 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 Biomarker disease BEFREE Homozygous deletion of the MTS1/p16 and MTS2/p15 genes and amplification of the CDK4 gene in glioma. 7478535 1995
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 PosttranslationalModification disease BEFREE These results suggested that inactivation of the CDK4I gene may play an important role in the progression of human glioma. 7775255 1995
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: C0017638
Disease: Glioma
Glioma
0.700 AlteredExpression disease BEFREE After infection, high levels of p16 and p15 were observed in two human glioma cell lines (U251 MG and U373 MG). 10939591 2000
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 Biomarker disease BEFREE In 3 of the 14 regions, TCF7L2 (T2D), CTLA4 (Graves' disease) and CDKN2A-CDKN2B (T2D), much of the posterior probability rested on a single SNP, and, in 4 other regions (CDKN2A-CDKN2B (CAD) and CDKAL1, FTO and HHEX (T2D)), the 95% sets were small, thereby excluding most SNPs as potentially causal. 23104008 2012
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