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: C0025202
Disease: melanoma
melanoma 		0.800 CausalMutation CLINVAR

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 CausalMutation CLINVAR

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 SusceptibilityMutation CLINVAR

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835042
Disease: Melanoma astrocytoma syndrome
Melanoma astrocytoma syndrome 		0.610 CausalMutation CLINVAR

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.500 CausalMutation CLINVAR

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR A CDKN2A mutation in familial melanoma that abrogates binding of p16INK4a to CDK4 but not CDK6. 17909018

2007
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families. 11506491

2001
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation CLINVAR A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees. 11726555

2001
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation CLINVAR A melanoma-associated germline mutation in exon 1beta inactivates p14ARF. 11571653

2001
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation CLINVAR A mutation hotspot at the p14ARF splice site. 15856016

2005
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR A novel methionine-53-valine mutation of p16 in a hereditary melanoma kindred. 15304098

2004
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation CLINVAR A short acidic motif in ARF guards against mitochondrial dysfunction and melanoma susceptibility. 25370744

2014
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 CausalMutation CLINVAR A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families. 10869234

2000
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation CLINVAR A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families. 10869234

2000
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation CLINVAR A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families. 10869234

2000
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 GeneticVariation CLINVAR A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families. 12700603

2003
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation CLINVAR A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families. 12700603

2003
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families. 12700603

2003
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation CLINVAR Absence of germline CDKN2A mutation in Sicilian patients with familial malignant melanoma: Could it be a population-specific genetic signature? 26650572

2016
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR Analysis of p16INK4a and its interaction with CDK4. 8573142

1996
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation CLINVAR Analysis of the CDKN2A, CDKN2B and CDK4 genes in 48 Australian melanoma kindreds. 9416844

1997
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR Analysis of the CDKN2A, CDKN2B and CDK4 genes in 48 Australian melanoma kindreds. 9416844

1997
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR Analysis of the CDKN2A, CDKN2B and CDK4 genes in 48 Australian melanoma kindreds. 9416844

1997
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 CausalMutation CLINVAR Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. 7987388

1994
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation CLINVAR Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds. 8570179

1995