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: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.100 Biomarker phenotype HPO
CUI: C4021976
Disease: Abnormality of the lymphatic system
Abnormality of the lymphatic system
0.100 Biomarker disease HPO
CUI: C0267756
Disease: Abscess of peritoneum
Abscess of peritoneum
0.100 Biomarker phenotype HPO
CUI: C0406352
Disease: Acanthosis palmaris
Acanthosis palmaris
0.010 AlteredExpression disease BEFREE Receptor tyrosine kinase and p16/CDKN2 expression in a case of tripe palms associated with non-small-cell lung cancer. 10640836 1999
CUI: C0279661
Disease: Acinar cell carcinoma of pancreas
Acinar cell carcinoma of pancreas
0.010 Biomarker disease BEFREE Concurrent loss of p53 and Ink4a/Arf resembles loss of p53 alone, suggesting that Ink4a/Arf loss has no additive effect to PACC progression. 27664376 2016
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma
0.010 AlteredExpression disease BEFREE P14ARF deficiency and its correlation with overexpression of p53/MDM2 in sporadic vestibular schwannomas. 24964769 2015
Acral Lentiginous Malignant Melanoma
0.020 Biomarker disease BEFREE Loss of expression of p16 is associated with lower levels of CD3+ and CD8+ TIL, indicating a probable relationship between p16 and TIL immune response in ALM . 30778854 2019
Acral Lentiginous Malignant Melanoma
0.020 AlteredExpression disease BEFREE Acral Spitz nevi were characterized by strong and diffuse P16 and P21 expression, which differs from acral nevi and acral lentiginous melanoma. 29537991 2018
CUI: C0001206
Disease: Acromegaly
Acromegaly
0.020 AlteredExpression disease BEFREE Tumor ARF mRNA expression measured at the time of the surgery is a prognosis factor in acromegaly. 30975543 2019
CUI: C0001206
Disease: Acromegaly
Acromegaly
0.020 AlteredExpression disease BEFREE However, the expression of the p16 protein was lower than in the NFA group than in the CD and acromegaly groups (p = 0.030, p = 0.033, respectively), and E2F1 protein expression was significantly higher in the NFA group than in the CD group (p = 0.025). p73 protein expression in patients with acromegaly was significantly higher (p = 0.031) than that in the CD group. 31828584 2020
CUI: C1306214
Disease: ACTH-Secreting Pituitary Adenoma
ACTH-Secreting Pituitary Adenoma
0.030 PosttranslationalModification disease BEFREE Tissue from 31 corticotroph adenomas and 16 nonadenomatous pituitaries were subject to methylation-sensitive PCR to determine the methylation status of the p16 gene CpG island. 15014032 2004
CUI: C1306214
Disease: ACTH-Secreting Pituitary Adenoma
ACTH-Secreting Pituitary Adenoma
0.030 PosttranslationalModification disease BEFREE The mechanisms of p16 down-regulation probably involve CDKN2A methylation in most types, but remain to be determined in somatotroph and corticotroph adenomas. 11276008 2001
CUI: C1306214
Disease: ACTH-Secreting Pituitary Adenoma
ACTH-Secreting Pituitary Adenoma
0.030 AlteredExpression disease BEFREE Thus, it is suggested that upregulated CDKN2A with the concomitant downregulated cyclin gene family is partly involved in the small size of ACTH-secreting adenoma. 20616110 2010
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis
0.090 AlteredExpression disease BEFREE Overexpression of p16INK4a was detected in a subset of dysplastic cells (10% to 80%) of all skin (pre)cancer lesions such as actinic keratoses, SCC in situ, Bowen's carcinoma, and SCC infected with HPV independent of sun exposure. 15008871 2004
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis
0.090 GeneticVariation disease BEFREE The evaluation of a large number of AK specimens in this study have found a low gene mutation rate in low-graded AK lesions. p53 mutations rather than p16(INK4a) and/or Ha-ras mutations may be an early event in the development of AK to cutaneous SCC. 17488404 2007
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis
0.090 AlteredExpression disease BEFREE Finally, the absence of differences in p53 and p16 expressions is at variance with other epithelia where the classical pathway is associated with human papillomavirus infection and can be explained by the fact that both AK pathways share identical mechanisms of actinic oncogenesis. 28796927 2018
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis
0.090 GeneticVariation disease BEFREE Single strand conformation polymorphism and sequencing analysis of the p53 and INK4a-ARF genes were carried out in DNA from normal skin and different tumors (four actinic keratosis, two microinvasive squamous cell carcinomas, one basal cell carcinoma, and one atypical fibroxanthoma) from the patient. 12485439 2002
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis
0.090 GeneticVariation disease LHGDN Low prevalence of p53, p16(INK4a) and Ha-ras tumour-specific mutations in low-graded actinic keratosis. 17488404 2007
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis
0.090 Biomarker disease LHGDN Genomic instability, mutations and expression analysis of the tumour suppressor genes p14(ARF), p15(INK4b), p16(INK4a) and p53 in actinic keratosis. 18331779 2008
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis
0.090 AlteredExpression disease LHGDN All 10 actinic keratoses were positive for weak to moderate p16 staining in the lower third to lower half of the epidermis (especially the basal keratinocytes). 12429789 2002
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis
0.090 AlteredExpression disease BEFREE The aims of this study were to assess (1) the relation between risk factors for carcinogenesis, sun exposure and immune status, and p16 or p53 expression, and (2) to assess differences in p16 and p53 expression between KINs and SCCs. 13679450 2003
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis
0.090 GeneticVariation disease BEFREE Two AK samples carried a not-previously described non-UV type missense mutation at codon 184 (Val184Glu) of exon 1b in the p14(ARF) gene. 18331779 2008
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis
0.090 AlteredExpression disease BEFREE Our results imply that progression of AK into SCC may involve inactivation of p16(INK4a). 11804749 2002
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis
0.090 GeneticVariation disease BEFREE Six different mutations (12%) were detected in exon 2 of p16 (common to p16alpha and p16beta), in five out of 21 squamous lesions (24%) (one AK and four SCCs) and one out of 28 BCCs (3.5%). 10498902 1999
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 PosttranslationalModification disease BEFREE Epigenetic inactivation of INK4/CDK/RB cell cycle pathway in acute leukemias. 14513284 2003