CDKN2A, cyclin dependent kinase inhibitor 2A, 1029

N. diseases: 1314; N. variants: 146
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. 16905682 2007
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Germline mutations of the CDKN2 gene in UK melanoma families. 9328469 1997
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas. 9699728 1998
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR CDKN2A mutation in a non-FAMMM kindred with cancers at multiple sites results in a functionally abnormal protein. 9389568 1997
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136 2010
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 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: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR A novel methionine-53-valine mutation of p16 in a hereditary melanoma kindred. 15304098 2004
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR The M53I mutation in CDKN2A is a founder mutation that predominates in melanoma patients with Scottish ancestry. 17171691 2007
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds. 8595405 1995
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Functional impairment of melanoma-associated p16(INK4a) mutants in melanoma cells despite retention of cyclin-dependent kinase 4 binding. 11595726 2001
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR CDKN2A mutations in Scottish families with cutaneous melanoma: results from 32 newly identified families. 16307646 2005
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population. 8710906 1996
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Biologic and biochemical analyses of p16(INK4a) mutations from primary tumors. 10491434 1999
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR CDKN2A mutations in multiple primary melanomas. 9516223 1998
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds. 8570179 1995
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Genetic discrimination and health insurance: an urgent need for reform. 7569991 1995
dbSNP: rs104894097
rs104894097
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation 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
dbSNP: rs104894097
rs104894097
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Mutation testing in melanoma families: INK4A, CDK4 and INK4D. 10390011 1999
dbSNP: rs104894097
rs104894097
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas. 9699728 1998
dbSNP: rs104894097
rs104894097
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR CDKN2A mutations in multiple primary melanomas. 9516223 1998
dbSNP: rs104894097
rs104894097
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds. 8570179 1995
dbSNP: rs104894097
rs104894097
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Functional impairment of melanoma-associated p16(INK4a) mutants in melanoma cells despite retention of cyclin-dependent kinase 4 binding. 11595726 2001
dbSNP: rs104894097
rs104894097
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Longitudinal assessment of the nevus phenotype in a melanoma kindred. 15304099 2004
dbSNP: rs104894097
rs104894097
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282 2011