CDKN2A, cyclin dependent kinase inhibitor 2A, 1029

N. diseases: 1314; N. variants: 146
Disease: Hereditary Melanoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894098
rs104894098
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		0.710 GeneticVariation BEFREE We compared the gene expression profile of SFs from FM individuals with two distinct CDKN2A/p16 mutations (V126D-p16 and R87P-p16) with the gene expression profile of SFs from age-matched individuals without p16 mutations and with no family history of melanoma. 23371019 2013
dbSNP: rs878853647
rs878853647
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		0.710 GeneticVariation BEFREE We compared the gene expression profile of SFs from FM individuals with two distinct CDKN2A/p16 mutations (V126D-p16 and R87P-p16) with the gene expression profile of SFs from age-matched individuals without p16 mutations and with no family history of melanoma. 23371019 2013
dbSNP: rs1034265990
rs1034265990
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		0.010 GeneticVariation BEFREE Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma. 30586141 2019
dbSNP: rs1131691186
rs1131691186
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		0.010 GeneticVariation BEFREE Our data show that the p.G23S mutation is an important cause of hereditary melanoma in Tuscany. 17992122 2007
dbSNP: rs121913384
rs121913384
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		0.010 GeneticVariation BEFREE A novel germline mutation p.E88X, associated with hereditary melanoma in two unrelated families, is described. 19523171 2009
dbSNP: rs759763964
rs759763964
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		0.010 GeneticVariation BEFREE We compared the gene expression profile of SFs from FM individuals with two distinct CDKN2A/p16 mutations (V126D-p16 and R87P-p16) with the gene expression profile of SFs from age-matched individuals without p16 mutations and with no family history of melanoma. 23371019 2013
dbSNP: rs771138120
rs771138120
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		0.010 GeneticVariation BEFREE This mutation (replacement of Arg24 by Cys) was first found in patients with hereditary melanoma and renders Cdk4 insensitive to INK4 inhibitors. 11726500 2001
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families. 10869234 2000
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282 2011
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma. 21801156 2011
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136 2010
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR INK4/ARF germline alterations in pancreatic cancer patients. 14679123 2004
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families. 11807902 2002
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Familial melanoma, pancreatic cancer and germline CDKN2A mutations. 15146471 2004
dbSNP: rs104894109
rs104894109
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family. 22841127 2012
dbSNP: rs104894109
rs104894109
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282 2011
dbSNP: rs104894109
rs104894109
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Influence of genes, nevi, and sun sensitivity on melanoma risk in a family sample unselected by family history and in melanoma-prone families. 15150307 2004
dbSNP: rs104894109
rs104894109
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR CDKN2A mutations in multiple primary melanomas. 9516223 1998
dbSNP: rs104894109
rs104894109
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Genetic susceptibility in familial melanoma from northeastern Italy. 15235029 2004
dbSNP: rs104894109
rs104894109
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment. 17492760 2007
dbSNP: rs104894109
rs104894109
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. 9425228 1998
dbSNP: rs104894109
rs104894109
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR A short acidic motif in ARF guards against mitochondrial dysfunction and melanoma susceptibility. 25370744 2014
dbSNP: rs104894109
rs104894109
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Geographical variation in the penetrance of CDKN2A mutations for melanoma. 12072543 2002
dbSNP: rs104894109
rs104894109
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136 2010
dbSNP: rs121913387
rs121913387
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR A short acidic motif in ARF guards against mitochondrial dysfunction and melanoma susceptibility. 25370744 2014