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: C0001430
Disease: Adenoma
Adenoma
0.060 GeneticVariation group BEFREE In addition, the promoter regions of CDKN2A, CDKN2B, and of RASSF1A were significantly hyper-methylated in 50% (n = 15), 47% (n = 14), and 90% (n = 27) of adenomas respectively. 28600574 2017
CUI: C0001430
Disease: Adenoma
Adenoma
0.060 PosttranslationalModification group BEFREE We investigated 2 genes, CDH1 and CDKN2B, which were silenced in adenomas but lacked promoter hypermethylation. 25437056 2014
CUI: C0001430
Disease: Adenoma
Adenoma
0.060 GeneticVariation group BEFREE In a series of 85 sporadic parathyroid adenomas, direct DNA sequencing identified alterations in five adenomas (6 %): Two contained distinct heterozygous changes in CDKN1A, one germline and one of undetermined germline status; one had a CDKN2B germline alteration, accompanied by loss of the normal allele in the tumor (LOH); two had variants of CDKN2C, one somatic and one germline with LOH. 23715670 2013
CUI: C0001430
Disease: Adenoma
Adenoma
0.060 Biomarker group BEFREE However, these adenomas all expressed p16, and >90% abundantly expressed cytoplasmic clusterin associated with induction of the Cdk inhibitor p15 in 70% of gonadotroph and in 26% of somatotroph lineage adenomas (p  =  0.006). 21464964 2011
CUI: C0001430
Disease: Adenoma
Adenoma
0.060 GeneticVariation group BEFREE Homozygous deletion of the p15(INK4b) or p16(INK4a) gene was detected in one adenoma each. 15892297 2005
CUI: C0001430
Disease: Adenoma
Adenoma
0.060 AlteredExpression group LHGDN Reduced p16 expression correlates with lymphatic invasion in colorectal cancers. 14696398 2004