CDKN2A, cyclin dependent kinase inhibitor 2A, 1029

N. diseases: 1314; N. variants: 146
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease BEFREE The p15 and p16 genes are known to be juxtaposed on chromosome 9p21 at the locus of a putative tumour-suppressor gene involved in the initiation of bladder cancer. 7577470 1995
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 PosttranslationalModification disease BEFREE Our results corroborate the earlier findings that single base mutation is not the prime mode of inactivation of the CDKN2A gene in bladder cancer. 12532425 2003
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 Biomarker disease BEFREE We, therefore, examined, in a population-based study of human bladder cancer, the relationship between epigenetic silencing of three tumor suppressor genes, p16(INK4A), RASSF1A and PRSS3, and exposure to both tobacco and arsenic in bladder cancer. 15987713 2006
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 PosttranslationalModification disease LHGDN We analyzed loss of heterozygosity in six microsatellite markers (D17S695, D17S654, D13S310, TH2, D9S747, and D9S161), p53 and K-ras mutations, and the promoter status of p14ARF and p16INK4a in the mononuclear normal blood cells, tumor, and plasma DNA of 27 bladder cancer patients. 11948103 2002
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 Therapeutic disease CTD_human Effect of Ad-p16 combined with CDDP or As2O3 on human bladder cancer cells. 12973940 2003
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 Therapeutic disease CTD_human We, therefore, examined, in a population-based study of human bladder cancer, the relationship between epigenetic silencing of three tumor suppressor genes, p16(INK4A), RASSF1A and PRSS3, and exposure to both tobacco and arsenic in bladder cancer. 15987713 2006
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 Biomarker disease BEFREE These figures support the use of methylated p16(INK4a) as a new class of tumour marker in bladder cancer. 12477660 2002
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 Biomarker disease BEFREE At the 9p arm is located the p16 (MTS1) TSG and probably others with an effect on various human tumours such as acute lymphoblastic leukaemia, bladder cancer, gliomas, malignant mesotheliomas, melanomas and non-small cell lung carcinomas. 7585472 1995
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease BEFREE Infrequent somatic mutations of the p16 and p15 genes in human bladder cancer: p16 mutations occur only in low-grade and superficial bladder cancers. 8747595 1995
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 PosttranslationalModification disease BEFREE p14 hypermethylation could be involved in early stage of bladder carcinogenesis, and p14 hypermethylation in pathologically normal urothelium samples should be considered a predictor of bladder cancer recurrence. 20800513 2012
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 Biomarker disease BEFREE In the present study, the efficacy of mouse p16 peptide administration in a mouse lung metastasis model for BT and also the toxicity of peptides by cardiac peptide injection were evaluated. 30655885 2019
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease BEFREE Using methylation-specific PCR (MSP), we examined the methylation status of p16(INK4a) and p14(ARF) in 64 samples from 45 bladder cancer patients (34 males, 11 females). 16316628 2006
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 Biomarker disease BEFREE We, therefore, examined, in a population-based study of human bladder cancer (n = 351), the relationship between epigenetic silencing of the tumor-suppressor genes, p16(INK4A), RASSF1A, PRSS3, and the four SFRP genes and exposure to both tobacco and arsenic in bladder cancer. 17119258 2006
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 Biomarker disease BEFREE We conclude that p16 represents the major target for deletion at 9p21 in bladder cancer. 8541841 1995
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 AlteredExpression disease BEFREE Of the entire group, p15 and p16 alteration and positive TGF-alpha (> or =cutoff value) were significantly expressed in schistosomal bladder cancer (68.1%, 60.9%, and 65.2%), and squamous cell carcinoma type (SCC) (69.1%, 64.7% and 72.1%) compared to those with non-schistosomal bladder cancer (29.4%, 7.8%, and 37.3%) or transitional cell carcinoma (TCC) (28.8%, 3.8%, and 28.8), respectively. 15589816 2004
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 AlteredExpression disease LHGDN Immunohistochemical study of the expression of cell cycle regulating proteins at different stages of bladder cancer. 12073046 2002
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 AlteredExpression disease BEFREE Effects of exogenous wild-type P16 gene transfection on the expression of cell cycle-related proteins in bladder cancer cell line. 16100943 2005
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease BEFREE Therefore, we applied gene-specific probes for CDKN2 and the interferon alpha gene (IFNA), also located at 9p21, to characterize further the genomic deletions at this locus in bladder cancer. 9171998 1997
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 PosttranslationalModification disease BEFREE Our data show a significant correlation (P = 0.00001, two-sided) between the absence of p16/CDKN2 expression and methylation of its 5' CpG island in bladder tumors, cell lines, and normal colon mucosa. 7553622 1995
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 PosttranslationalModification disease BEFREE In conclusion, deletions and methylation of the INK4A gene occur frequently in superficial bladder tumors. 10393843 1999
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 Biomarker disease BEFREE We identified a miR-877-3p binding site on the promoter site of tumor suppressor gene p16 which alters frequently in bladder cancer. 27429046 2016
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 Biomarker disease BEFREE Thus, the systemic peptide delivery of p16 restores the hypophosphorylation of pRb and may be a useful tool for the treatment of bladder tumors. 23292502 2013
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease UNIPROT
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease BEFREE These observations as well as the observation that bladder cancer is associated with deletions of CDKN2, a gene important in normal senescence, led us to examine normal urothelial cell response to H2O2. 10938379 2000
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 AlteredExpression disease BEFREE Detection of human papillomavirus infection and p16 immunohistochemistry expression in bladder cancer with squamous differentiation. 24675970 2014