CDKN2A, cyclin dependent kinase inhibitor 2A, 1029

N. diseases: 1314; N. variants: 146
Disease: Vulval intraepithelial neoplasia grade 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0349560
Disease: Vulval intraepithelial neoplasia grade 3
Vulval intraepithelial neoplasia grade 3 		0.020 AlteredExpression disease BEFREE Co-incident methylation, accompanied by loss of expression, of sigma and p16INK4a was commonly detected in both SCC and VIN III, suggesting that epigenetic silencing of these two genes is an early and important event in vulval neoplasia. 11896620 2002
CUI: C0349560
Disease: Vulval intraepithelial neoplasia grade 3
Vulval intraepithelial neoplasia grade 3 		0.020 Biomarker disease BEFREE The combination of the lack of p16INK4 and/or Rb expression increased from benign lesions (14.3%), through VIN I (60%) and VIN III (60%), to invasive squamous cell carcinoma (72%), thus supporting the postulation that alterations in p16INK4 or Rb could be significant events in progression of disease. 9514803 1998