CDK4, cyclin dependent kinase 4, 1019

N. diseases: 433; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.010 GeneticVariation disease BEFREE We examined the frequency of INK4a-ARF, p53, and CDK4 mutations in skin carcinomas from patients with xeroderma pigmentosum (XP), a rare autosomal disease that is associated with a defect in DNA repair and that predisposes patients to skin cancer. 11078762 2000