CDKN2A, cyclin dependent kinase inhibitor 2A, 1029

N. diseases: 1314; N. variants: 146
Disease: MELANOMA-PANCREATIC CANCER SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 Biomarker disease CTD_human
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 CausalMutation disease CLINVAR Mutations associated with familial melanoma impair p16INK4 function. 7647780 1995
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 Biomarker disease CLINGEN A p16INK4a-insensitive CDK4 mutant targeted by cytolytic T lymphocytes in a human melanoma. 7652577 1995
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 Biomarker disease CLINGEN Brief report: a familial syndrome of pancreatic cancer and melanoma with a mutation in the CDKN2 tumor-suppressor gene. 7666917 1995
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 Biomarker disease CLINGEN Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. 7670475 1995
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 CausalMutation disease CLINVAR Germline p16 mutations in familial melanoma. 7987387 1994
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 CausalMutation disease CLINVAR Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. 7987388 1994
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 Biomarker disease CLINGEN Novel germline p16 mutation in familial malignant melanoma in southern Sweden. 8653684 1996
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 CausalMutation disease CLINVAR Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population. 8710906 1996
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 GeneticVariation disease CLINVAR Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. 9425228 1998
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 GeneticVariation disease CLINVAR CDKN2A mutations in multiple primary melanomas. 9516223 1998
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 Biomarker disease CLINGEN Haplotype analysis of two recurrent CDKN2A mutations in 10 melanoma families: evidence for common founders and independent mutations. 9603434 1998
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 GeneticVariation disease CLINVAR CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas. 9699728 1998
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 CausalMutation disease CLINVAR Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma. 9916806 1999
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 CausalMutation disease CLINVAR Functional reassessment of P16 variants using a transfection-based assay. 10389768 1999
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 GeneticVariation disease CLINVAR Novel germline p16(INK4) allele (Asp145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148. Online. 10627132 1998
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 CausalMutation disease CLINVAR A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families. 10869234 2000
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 Biomarker disease CLINGEN Loss of p16Ink4a confers susceptibility to metastatic melanoma in mice. 11544530 2001
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 GeneticVariation disease CLINVAR CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation. 11556834 2001
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 GeneticVariation disease CLINVAR Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families: the familial atypical mole melanoma-pancreatic carcinoma syndrome. 11815963 2002
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 CausalMutation disease CLINVAR Geographical variation in the penetrance of CDKN2A mutations for melanoma. 12072543 2002
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 GeneticVariation disease CLINVAR A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families. 12700603 2003
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 GeneticVariation disease CLINVAR CDKN2A point mutations D153spl(c.457G>T) and IVS2+1G>T result in aberrant splice products affecting both p16INK4a and p14ARF. 12853981 2003
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 GeneticVariation disease CLINVAR Germline splicing mutations of CDKN2A predispose to melanoma. 14508519 2003
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 GeneticVariation disease CLINVAR Familial melanoma, pancreatic cancer and germline CDKN2A mutations. 15146471 2004