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: rs730881674
rs730881674
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Prospective risk of cancer and the influence of tobacco use in carriers of the p16-Leiden germline variant. 25227142 2015
dbSNP: rs730881674
rs730881674
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Surveillance of second-degree relatives from melanoma families with a CDKN2A germline mutation. 23897584 2013
dbSNP: rs730881674
rs730881674
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Indication for CDKN2A-mutation analysis in familial pancreatic cancer families without melanomas. 22636603 2012
dbSNP: rs730881674
rs730881674
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Lack of germline PALB2 mutations in melanoma-prone families with CDKN2A mutations and pancreatic cancer. 21614589 2011
dbSNP: rs730881674
rs730881674
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136 2010
dbSNP: rs730881674
rs730881674
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Undifferentiated carcinoma with osteoclastic giant cells (UCOCGC) of the pancreas associated with the familial atypical multiple mole melanoma syndrome (FAMMM). 18813118 2008
dbSNP: rs730881674
rs730881674
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families. 18981015 2008
dbSNP: rs730881674
rs730881674
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. 16905682 2007
dbSNP: rs730881674
rs730881674
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL. 17047042 2006
dbSNP: rs730881674
rs730881674
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Familial melanoma, pancreatic cancer and germline CDKN2A mutations. 15146471 2004
dbSNP: rs730881674
rs730881674
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Hereditary p16-Leiden mutation in a patient with multiple head and neck tumors. 12549483 2003
dbSNP: rs730881674
rs730881674
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). 10956390 2000
dbSNP: rs730881674
rs730881674
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR CDKN2A (P16(INK4a)) and CDK4 mutation analysis in 131 Australian melanoma probands: effect of family history and multiple primary melanomas. 10398427 1999
dbSNP: rs730881674
rs730881674
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR The p16INK4a/CDKN2A tumor suppressor and its relatives. 9823374 1998
dbSNP: rs730881674
rs730881674
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR CDKN2 explains part of the clinical phenotype in Dutch familial atypical multiple-mole melanoma (FAMMM) syndrome families. 7640518 1995