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: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		T 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: C1512419
Disease:
Hereditary Melanoma 		T 0.700 CausalMutation CLINVAR BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study. 25356972 2015
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		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: C1512419
Disease:
Hereditary Melanoma 		T 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: C1512419
Disease:
Hereditary Melanoma 		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: 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: rs104894095
rs104894095
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: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		T 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: C1512419
Disease:
Hereditary Melanoma 		T 0.700 CausalMutation CLINVAR Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. 16234564 2005
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		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: C1512419
Disease:
Hereditary Melanoma 		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: C1512419
Disease:
Hereditary Melanoma 		T 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: C1512419
Disease:
Hereditary Melanoma 		T 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: C1512419
Disease:
Hereditary Melanoma 		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: C1512419
Disease:
Hereditary Melanoma 		T 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: C1512419
Disease:
Hereditary Melanoma 		T 0.700 CausalMutation CLINVAR The prevalence of CDKN2A germ-line mutations and relative risk for cutaneous malignant melanoma: an international population-based study. 16896043 2006
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		G 0.700 CausalMutation CLINVAR A short acidic motif in ARF guards against mitochondrial dysfunction and melanoma susceptibility. 25370744 2014
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		T 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 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 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 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 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 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 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 Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136 2010