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: 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 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 AlteredExpression disease BEFREE Interferon-γ activates expression of p15 and p16 regardless of 9p21.3 coronary artery disease risk genotype. 23199516 2013
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 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 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 AlteredExpression disease BEFREE The results of this study indicate that the 9p21 variation has an impact on CDKN2A and CDKN2B expression in VSMCs and influences VMSC proliferation, which likely represents an important mechanism for the association between this genetic locus and susceptibility to CAD. 22706276 2012
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.500 Biomarker disease CTD_human 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 PosttranslationalModification disease BEFREE Further investigation determined that p15(INK4b) hypermethylation prevalently emerged in lymphocytes of CAD patients (p = 0.013). 23091611 2012
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 Biomarker disease BEFREE Cardiac expression of two genes near the non-coding interval, Cdkn2a and Cdkn2b, is severely reduced in chr4(Delta70kb/Delta70kb) mice, indicating that distant-acting gene regulatory functions are located in the non-coding CAD risk interval. 20173736 2010
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 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
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.450 GeneticVariation disease BEFREE In conclusion, this meta-analysis indicates that CDKN2B gene rs1063192 polymorphism is significantly associated with a decreased risk of glaucoma. 28416752 2017
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.450 Biomarker disease BEFREE Many genome-wide association studies have identified common single nucleotide polymorphisms (SNPs) at the 9p21 glaucoma locus (CDKN2B/CDKN2B-AS1) to be significantly associated with primary open-angle glaucoma (POAG), with association being stronger in normal tension glaucoma (NTG) and advanced glaucoma. 27367510 2016
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.450 GeneticVariation disease BEFREE Our study was unable to confirm previous associations reported for variants in CDKN2B-AS1, CDKN2B, and SIX1 with any type of glaucoma. 25489222 2014
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.450 GeneticVariation disease GWASDB Common variants on chromosome 9p21 are associated with normal tension glaucoma. 22792221 2012
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.450 Biomarker disease CTD_human We also show that CDKN2A and CDKN2B are upregulated in the retina of a rat model of glaucoma. 21532571 2011
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.450 AlteredExpression disease BEFREE We also show that CDKN2A and CDKN2B are upregulated in the retina of a rat model of glaucoma. 21532571 2011
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.450 GeneticVariation disease GWASDB We also show that CDKN2A and CDKN2B are upregulated in the retina of a rat model of glaucoma. 21532571 2011
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.450 GeneticVariation disease BEFREE In conclusion, we found consistent evidence for three common variants (CDKN2B, ATOH7 and SIX1) significantly associated with glaucoma. 21427129 2011
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.400 PosttranslationalModification group BEFREE In addition, p15(INK4B) methylation was significantly higher in advanced MDS than in early MDS (OR, 4.70; P < .001) and was linked to an unfavorable overall survival (multivariate analysis: HR, 1.78; 95% CI, 1.23-2.71). 31023595 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE Inhibition of S6K1 is able to resensitize PIK3CA<sup>E545K</sup>-expressing NRAS-mutant melanoma cells to MEKi + CDK4i.<i>Cancer Discov; 8(5); 556-67. 29496665 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE CDKN2A/CDKN2B locus on 9p21 is reported to be associated with various diseases, including cancer and cardiovascular and inflammatory diseases. 29063720 2018