Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.500 CausalMutation CLINVAR Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway. 27804060

2017

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.500 CausalMutation CLINVAR Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families. 28830827

2017

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.500 GeneticVariation CLINVAR Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma. 28592523

2017

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.500 CausalMutation CLINVAR Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings. 27083775

2016

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.500 GeneticVariation CLINVAR Germline CDKN2A Mutation Status and Survival in Familial Melanoma Cases. 27287845

2016

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.500 CausalMutation CLINVAR Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma. 26681309

2016

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.500 GeneticVariation CLINVAR Absence of germline CDKN2A mutation in Sicilian patients with familial malignant melanoma: Could it be a population-specific genetic signature? 26650572

2016

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.500 GeneticVariation CLINVAR Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma. 26681309

2016

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.500 CausalMutation CLINVAR Hereditary melanoma: Update on syndromes and management: Genetics of familial atypical multiple mole melanoma syndrome. 26892650

2016

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.500 CausalMutation CLINVAR Novel CDKN2A mutations in Austrian melanoma patients. 26225579

2015

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.500 CausalMutation CLINVAR Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. 25803691

2015

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.500 CausalMutation CLINVAR BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study. 25356972

2015

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.500 CausalMutation CLINVAR Personalized genomic analyses for cancer mutation discovery and interpretation. 25877891

2015

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.500 GeneticVariation CLINVAR Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. 25803691

2015

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.500 GeneticVariation CLINVAR CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment. 24659262

2014

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.500 GeneticVariation CLINVAR High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families. 24935963

2014

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.500 GeneticVariation CLINVAR Genotype analysis in Hungarian patients with multiple primary melanoma. 24660985

2014

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.500 CausalMutation CLINVAR [CDKN2A-mutation in a family with hereditary malignant melanoma]. 25294512

2014

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.500 CausalMutation CLINVAR A short acidic motif in ARF guards against mitochondrial dysfunction and melanoma susceptibility. 25370744

2014

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.500 GeneticVariation CLINVAR Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom. 25780468

2014

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.500 GeneticVariation CLINVAR Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions. 23190892

2013

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.500 CausalMutation CLINVAR Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions. 23190892

2013

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.500 GeneticVariation CLINVAR Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family. 22841127

2012

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.500 CausalMutation CLINVAR Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family. 22841127

2012

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma
0.500 GeneticVariation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011