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: rs104894097
rs104894097
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		G 0.700 CausalMutation CLINVAR BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study. 25356972 2015
dbSNP: rs104894097
rs104894097
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		G 0.700 CausalMutation CLINVAR Novel CDKN2A mutations in Austrian melanoma patients. 26225579 2015
dbSNP: rs104894097
rs104894097
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		G 0.700 CausalMutation CLINVAR Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions. 23190892 2013
dbSNP: rs104894097
rs104894097
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		G 0.700 CausalMutation CLINVAR Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling. 21150883 2011
dbSNP: rs104894097
rs104894097
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		G 0.700 CausalMutation CLINVAR Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma. 21801156 2011
dbSNP: rs104894097
rs104894097
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		G 0.700 CausalMutation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136 2010
dbSNP: rs104894097
rs104894097
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		G 0.700 CausalMutation CLINVAR CDKN2A/CDK4 molecular study on 155 Italian subjects with familial and/or primary multiple melanoma. 18363633 2008
dbSNP: rs104894097
rs104894097
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		G 0.700 CausalMutation CLINVAR p16INK4a-induced senescence is disabled by melanoma-associated mutations. 18843795 2008
dbSNP: rs104894097
rs104894097
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		G 0.700 CausalMutation CLINVAR Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. 16905682 2007
dbSNP: rs104894097
rs104894097
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		G 0.700 CausalMutation CLINVAR High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL. 17047042 2006
dbSNP: rs104894097
rs104894097
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		G 0.700 CausalMutation CLINVAR The melanoma-associated 24 base pair duplication in p16INK4a is functionally impaired. 15945100 2005
dbSNP: rs104894097
rs104894097
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		G 0.700 CausalMutation CLINVAR Familial melanoma, pancreatic cancer and germline CDKN2A mutations. 15146471 2004
dbSNP: rs104894097
rs104894097
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		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: C1512419
Disease:
Hereditary Melanoma 		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: C1512419
Disease:
Hereditary Melanoma 		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: C1512419
Disease:
Hereditary Melanoma 		G 0.700 CausalMutation CLINVAR Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds. 8570179 1995