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: rs45476696
rs45476696
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study. 25356972 2015
dbSNP: rs45476696
rs45476696
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high-risk pancreatic cancer screening and pancreatic cancer cohorts. 24737347 2014
dbSNP: rs45476696
rs45476696
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study. 20876876 2010
dbSNP: rs45476696
rs45476696
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. 16905682 2007
dbSNP: rs45476696
rs45476696
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR CDKN2A point mutations D153spl(c.457G>T) and IVS2+1G>T result in aberrant splice products affecting both p16INK4a and p14ARF. 12853981 2003
dbSNP: rs45476696
rs45476696
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Germline splicing mutations of CDKN2A predispose to melanoma. 14508519 2003
dbSNP: rs45476696
rs45476696
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 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: rs45476696
rs45476696
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Novel germline p16(INK4) allele (Asp145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148. Online. 10627132 1998