Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE The frequency of cancer-related gene methylation in SCCs was: CDH1 (95%), p16 (20%), p14 (15%), DAPK1 (15%), MGMT (15%), RB1 (5%), RASSF1 (5%), p15 (0%), PTEN (0%), PRDM2 (0%) and p53 (0%). 17034532 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Chromosome 9p21, a locus comprising the tumor suppressor genes (TSG) p16(INK4a) and p14(ARF), is a common region of loss of heterozygosity (LOH) in hepatocellular carcinoma (HCC). p14(ARF) shares exon 2 with p16 in a different reading frame. p14 binds to MDM2 resulting in a stabilization of functional p53. 11982701 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE We found a significant difference in maximal tumor size (P=0.022) when patients with both p16 and p14 methylation were compared to other patients. 12716465 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Our findings indicate p14 (ARF) variants may predict tumor HPV16-positive SCCOP patients and survival. 24104554 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE EGFR gene amplification was present in 27 of these tumors (40%), and we identified allelic losses at 7p11 approximately p14 in 38 of the 68 cases (56%), including 17 tumors displaying loss for EGFR intragenic markers. 16364761 2006
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.080 GeneticVariation group BEFREE The frequency of cancer-related gene methylation in SCCs was: CDH1 (95%), p16 (20%), p14 (15%), DAPK1 (15%), MGMT (15%), RB1 (5%), RASSF1 (5%), p15 (0%), PTEN (0%), PRDM2 (0%) and p53 (0%). 17034532 2006
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.070 GeneticVariation phenotype BEFREE Although the number of cases we analyzed was not large, alterations identified in the Rb, p53, p16, p15 and p14 genes are of significance and might be associated with tumorigenesis in NK cell neoplasms. 11676855 2001
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.050 GeneticVariation disease BEFREE In addition, DAPK, hMLH1, and p14 genes promoter hypermethylation were significantly associated with the susceptibility of breast cancer. 30572486 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.050 GeneticVariation disease BEFREE The aim of this study was; 1) To explore alterations in the TP53 gene with respect to resistance to a regular dose epirubicin regimen (90 mg/m(2) every 3 week) in patients with primary, locally advanced breast cancer; 2) Identify critical mechanisms activating p53 in response to DNA damage in breast cancer; 3) Evaluate in vitro function of Chk2 and p14 proteins corresponding to identified mutations in the CHEK2 and p14((ARF)) genes; and 4) Explore potential CHEK2 or p14((ARF)) germline mutations with respect to family cancer incidence. 18725978 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.050 GeneticVariation disease BEFREE The aim of this study was; 1) To explore alterations in the TP53 gene with respect to resistance to a regular dose epirubicin regimen (90 mg/m(2) every 3 week) in patients with primary, locally advanced breast cancer; 2) Identify critical mechanisms activating p53 in response to DNA damage in breast cancer; 3) Evaluate in vitro function of Chk2 and p14 proteins corresponding to identified mutations in the CHEK2 and p14((ARF)) genes; and 4) Explore potential CHEK2 or p14((ARF)) germline mutations with respect to family cancer incidence. 18725978 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.050 GeneticVariation disease BEFREE In addition, DAPK, hMLH1, and p14 genes promoter hypermethylation were significantly associated with the susceptibility of breast cancer. 30572486 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.050 GeneticVariation disease BEFREE These results suggest that the risk of HCC is related to P14 methylation, but not MGMT methylation. 25169493 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.040 GeneticVariation disease BEFREE We have determined the presence of mutations in the K-ras gene and the methylation status of p16 promoter in a series of 119 prospectively collected colorectal carcinomas. p53 mutations and p14 alternative reading frame methylation status were also assessed. 11208819 2001
CUI: C0025202
Disease: melanoma
melanoma
0.030 GeneticVariation disease BEFREE Eighteen families with at least two first-degree relatives with histologically confirmed pancreatic cancer and five families with at least one patient with pancreatic cancer and another first-degree relative with malignant melanoma of the German National Case Collection for Familial Pancreatic Cancer were analyzed for CDKN2A germline mutations including p16 and p14 by direct DNA sequencing. 12454511 2002
CUI: C0036572
Disease: Seizures
Seizures
0.030 GeneticVariation phenotype BEFREE PS led to an increase in total score of seizure at the P14 and P21. 29758348 2018
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.020 GeneticVariation disease BEFREE The majority of these markers clustered in three regions that have been suggested to be involved in the development of RCC, namely the p25 region, where the von Hippel Lindau (VHL) gene is located; the p21 region, which has been identified as a common region of overlap (SRO) of heterozygous deletions; and the p14 region, which is the location of the constitutional t(3;8) breakpoint occurring in an RCC family. 8824727 1996
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.020 GeneticVariation disease BEFREE The frequency of cancer-related gene methylation in SCCs was: CDH1 (95%), p16 (20%), p14 (15%), DAPK1 (15%), MGMT (15%), RB1 (5%), RASSF1 (5%), p15 (0%), PTEN (0%), PRDM2 (0%) and p53 (0%). 17034532 2006
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.020 GeneticVariation disease BEFREE We investigated the aberrant promoter hypermethylation of p16, p15 and p14 genes and loss of heterozygosity (LOH) at 9p21-22 in 48 cases of adenocarcinoma of the lung. 15189501 2004
Conventional (Clear Cell) Renal Cell Carcinoma
0.020 GeneticVariation disease BEFREE The majority of these markers clustered in three regions that have been suggested to be involved in the development of RCC, namely the p25 region, where the von Hippel Lindau (VHL) gene is located; the p21 region, which has been identified as a common region of overlap (SRO) of heterozygous deletions; and the p14 region, which is the location of the constitutional t(3;8) breakpoint occurring in an RCC family. 8824727 1996
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia
0.020 GeneticVariation disease BEFREE HAX1, p14 etc) in autosomal recessive CN, with HAX1 mutations in the majority of these patients. 19120359 2009
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
0.020 GeneticVariation disease BEFREE In Helicobacter pylori (H. pylori) infected subjects, the number of -686/-684 G/G allele was positively correlated and that of A/G allele was inversely correlated to the methylation status, especially p14 methylation, by the adjusted analysis (OR, 2.90; 95% CI, 1.14-7.36; p=0.026, and OR, 0.33; 95% CI, 0.13-0.88; p=0.027, respectively). 18097597 2008
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia
0.020 GeneticVariation phenotype BEFREE HAX1, p14 etc) in autosomal recessive CN, with HAX1 mutations in the majority of these patients. 19120359 2009
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
0.010 GeneticVariation disease BEFREE In this study, we obtained MCCs from 21 elderly patients (19 women, 2 men) and analyzed their DNA for mutation of exons of interest in several tumor-suppressor genes or oncogenes known to be frequently mutated in skin cancer: p53 (exons 4-8), Ras (exons 1 and 2), c-Kit (exon 11), and the INK4a-ARF locus (encoding p14 and p16) (exons 1 and 2). 18219279 2008
CUI: C0007129
Disease: Merkel cell carcinoma
Merkel cell carcinoma
0.010 GeneticVariation disease BEFREE In this study, we obtained MCCs from 21 elderly patients (19 women, 2 men) and analyzed their DNA for mutation of exons of interest in several tumor-suppressor genes or oncogenes known to be frequently mutated in skin cancer: p53 (exons 4-8), Ras (exons 1 and 2), c-Kit (exon 11), and the INK4a-ARF locus (encoding p14 and p16) (exons 1 and 2). 18219279 2008
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 GeneticVariation disease BEFREE Genome-wide association studies (GWASs) have unequivocally linked the CDKN2A/B locus, which encodes p16 inhibitor of cyclin-dependent kinase (p16(INK4A)) and three other gene products, p14 alternate reading frame (p14(ARF)), p15(INK4B) and antisense non-coding RNA in the INK4 locus (ANRIL), with human diabetes risk. 27155872 2016