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 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 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 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 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 CausalMutation disease CLINVAR BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study. 25356972 2015
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 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 CDKN2A germline mutations in individuals with cutaneous malignant melanoma. 17218939 2007
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 CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma. 18983535 2008
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 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 CausalMutation disease CLINVAR Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma. 26681309 2016
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 GeneticVariation disease CLINVAR Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma. 26681309 2016
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 CausalMutation disease CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282 2011
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 GeneticVariation disease CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282 2011
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 GeneticVariation disease CLINVAR Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma. 21893440 2011
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 GeneticVariation disease CLINVAR Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma. 21801156 2011
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
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 CausalMutation disease CLINVAR Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions. 23190892 2013
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 GeneticVariation disease CLINVAR Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions. 23190892 2013
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 GeneticVariation disease CLINVAR Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family. 22841127 2012
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 CausalMutation disease CLINVAR Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family. 22841127 2012
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 CausalMutation disease CLINVAR Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma. 20093296 2010