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: rs121913386
rs121913386
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282 2011
dbSNP: rs121913386
rs121913386
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy. 17992122 2007
dbSNP: rs121913386
rs121913386
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Familial melanoma, pancreatic cancer and germline CDKN2A mutations. 15146471 2004
dbSNP: rs121913386
rs121913386
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR p16INK4a and p14ARF tumor suppressor genes are commonly inactivated in cutaneous squamous cell carcinoma. 15140233 2004
dbSNP: rs121913386
rs121913386
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR CDKN2a/p16INK4a mutations and lack of p19ARF involvement in familial melanoma kindreds. 9856841 1998
dbSNP: rs121913386
rs121913386
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Tumor suppressor p16INK4A: structural characterization of wild-type and mutant proteins by NMR and circular dichroism. 8755727 1996
dbSNP: rs121913386
rs121913386
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma. 8668202 1996