Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 CausalMutation CLINVAR Homozygous loss of the cyclin-dependent kinase 4-inhibitor (p16) gene in human leukemias. 7919362

1994

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 CausalMutation CLINVAR Germline p16 mutations in familial melanoma. 7987387

1994

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 GeneticVariation CLINVAR Germline p16 mutations in familial melanoma. 7987387

1994

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 GeneticVariation CLINVAR Mutations associated with familial melanoma impair p16INK4 function. 7647780

1995

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 CausalMutation CLINVAR Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds. 8570179

1995

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 CausalMutation CLINVAR Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. 7670475

1995

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 CausalMutation CLINVAR Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds. 8595405

1995

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 CausalMutation CLINVAR CDKN2 explains part of the clinical phenotype in Dutch familial atypical multiple-mole melanoma (FAMMM) syndrome families. 7640518

1995

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 GeneticVariation CLINVAR Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds. 8595405

1995

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 GeneticVariation CLINVAR p16 proteins from melanoma-prone families are deficient in binding to Cdk4. 7566978

1995

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 CausalMutation CLINVAR Genetic discrimination and health insurance: an urgent need for reform. 7569991

1995

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 CausalMutation CLINVAR Mutations associated with familial melanoma impair p16INK4 function. 7647780

1995

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 GeneticVariation CLINVAR CDKN2A (p16INK4A) somatic and germline mutations. 8723678

1996

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 CausalMutation CLINVAR Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma. 8668202

1996

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 GeneticVariation CLINVAR Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population. 8710906

1996

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 GeneticVariation CLINVAR Analysis of p16INK4a and its interaction with CDK4. 8573142

1996

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 CausalMutation CLINVAR Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population. 8710906

1996

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 GeneticVariation CLINVAR Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma. 8668202

1996

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 GeneticVariation CLINVAR Tumor suppressor p16INK4A: structural characterization of wild-type and mutant proteins by NMR and circular dichroism. 8755727

1996

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 CausalMutation CLINVAR Novel germline p16 mutation in familial malignant melanoma in southern Sweden. 8653684

1996

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 GeneticVariation CLINVAR Analysis of the CDKN2A, CDKN2B and CDK4 genes in 48 Australian melanoma kindreds. 9416844

1997

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 CausalMutation CLINVAR The CDKN2A (p16) gene and human cancer. 9132280

1997

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 CausalMutation CLINVAR Analysis of the CDKN2A, CDKN2B and CDK4 genes in 48 Australian melanoma kindreds. 9416844

1997

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 CausalMutation CLINVAR Germline mutations of the CDKN2 gene in UK melanoma families. 9328469

1997

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 CausalMutation CLINVAR CDKN2A mutation in a non-FAMMM kindred with cancers at multiple sites results in a functionally abnormal protein. 9389568

1997