Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds. 8570179

1995
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR Assessment of functional effects of unclassified genetic variants. 18951449

2008
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation CLINVAR Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study. 20876876

2010
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study. 20876876

2010
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study. 20876876

2010
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation CLINVAR Biologic and biochemical analyses of p16(INK4a) mutations from primary tumors. 10491434

1999
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR Biologic and biochemical analyses of p16(INK4a) mutations from primary tumors. 10491434

1999
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Biologic and biochemical analyses of p16(INK4a) mutations from primary tumors. 10491434

1999
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high-risk pancreatic cancer screening and pancreatic cancer cohorts. 24737347

2014
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 CausalMutation CLINVAR BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study. 25356972

2015
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation CLINVAR BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study. 25356972

2015
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study. 25356972

2015
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation CLINVAR BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma. 17624602

2007
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation CLINVAR Cancer-associated mis-sense and deletion mutations impair p16INK4 CDK inhibitory activity. 8603820

1996
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR CDKN2 explains part of the clinical phenotype in Dutch familial atypical multiple-mole melanoma (FAMMM) syndrome families. 7640518

1995
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation CLINVAR CDKN2A (P16(INK4a)) and CDK4 mutation analysis in 131 Australian melanoma probands: effect of family history and multiple primary melanomas. 10398427

1999
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR CDKN2A (P16(INK4a)) and CDK4 mutation analysis in 131 Australian melanoma probands: effect of family history and multiple primary melanomas. 10398427

1999
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR CDKN2A (P16(INK4a)) and CDK4 mutation analysis in 131 Australian melanoma probands: effect of family history and multiple primary melanomas. 10398427

1999
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR CDKN2A (p16INK4A) somatic and germline mutations. 8723678

1996
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 GeneticVariation CLINVAR CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation. 11556834

2001
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation CLINVAR CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation. 11556834

2001
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation. 11556834

2001
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation. 11556834

2001
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR CDKN2A germ-line mutations in individuals with multiple cutaneous melanomas. 11156381

2000
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation CLINVAR CDKN2A germline mutations in familial pancreatic cancer. 12454511

2002