Gene: CDKN2A ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.110 GeneticVariation group CLINVAR Validation of denaturing high performance liquid chromatography as a rapid detection method for the identification of human INK4A gene mutations. 11687599 2001
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.110 CausalMutation group CLINVAR Undifferentiated carcinoma with osteoclastic giant cells (UCOCGC) of the pancreas associated with the familial atypical multiple mole melanoma syndrome (FAMMM). 18813118 2008
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.110 GeneticVariation group 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 		0.110 GeneticVariation group CLINVAR The prevalence of CDKN2A germ-line mutations and relative risk for cutaneous malignant melanoma: an international population-based study. 16896043 2006
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.110 CausalMutation group CLINVAR The prevalence of CDKN2A germ-line mutations and relative risk for cutaneous malignant melanoma: an international population-based study. 16896043 2006
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.110 GeneticVariation group CLINVAR The p16INK4a/CDKN2A tumor suppressor and its relatives. 9823374 1998
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.110 CausalMutation group CLINVAR The p16INK4a/CDKN2A tumor suppressor and its relatives. 9823374 1998
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.110 GeneticVariation group CLINVAR The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy. 17992122 2007
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.110 GeneticVariation group CLINVAR The missing puzzle piece: splicing mutations. 24294354 2013
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.110 CausalMutation group CLINVAR The melanoma-associated 24 base pair duplication in p16INK4a is functionally impaired. 15945100 2005
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.110 CausalMutation group CLINVAR The M53I mutation in CDKN2A is a founder mutation that predominates in melanoma patients with Scottish ancestry. 17171691 2007
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.110 CausalMutation group CLINVAR The CDKN2A/p16(INK) (4a) 5'UTR sequence and translational regulation: impact of novel variants predisposing to melanoma. 26581427 2016
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.110 CausalMutation group CLINVAR The CDKN2A (p16) gene and human cancer. 9132280 1997
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.110 CausalMutation group CLINVAR Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma. 8668202 1996
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.110 GeneticVariation group CLINVAR Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma. 8668202 1996
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.110 CausalMutation group CLINVAR Swedish CDKN2A mutation carriers do not present the atypical mole syndrome phenotype. 20526219 2010
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.110 CausalMutation group CLINVAR Surveillance of second-degree relatives from melanoma families with a CDKN2A germline mutation. 23897584 2013
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.110 GeneticVariation group CLINVAR Structural basis for inhibition of the cyclin-dependent kinase Cdk6 by the tumour suppressor p16INK4a. 9751050 1998
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.110 GeneticVariation group CLINVAR Role of the CDKN2A locus in patients with multiple primary melanomas. 15860862 2005
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.110 CausalMutation group CLINVAR Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy. 19799798 2009
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.110 CausalMutation group 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
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.110 GeneticVariation group CLINVAR Protective effect of copy number polymorphism of glutathione S-transferase T1 gene on melanoma risk in presence of CDKN2A mutations, MC1R variants and host-related phenotypes. 19484507 2009
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.110 CausalMutation group CLINVAR Prospective risk of cancer and the influence of tobacco use in carriers of the p16-Leiden germline variant. 25227142 2015
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.110 GeneticVariation group CLINVAR Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families. 18803811 2008
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.110 CausalMutation group CLINVAR Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. 9425228 1998