Gene: CDKN2A ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.700 CausalMutation disease CGI
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.700 Biomarker disease HPO
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.700 GenomicAlterations disease CGI
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.700 GeneticVariation disease BEFREE : Inherited mutations in the CDKN2A tumor suppressor gene, which encodes the p16(INK4a) protein, and in the cyclin-dependent kinase 4 (CDK4) gene confer susceptibility to cutaneous malignant melanoma. 10922411 2000
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.700 GeneticVariation disease BEFREE Cutaneous melanoma in childhood and adolescence shows frequent loss of INK4A and gain of KIT. 19158841 2009
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.700 AlteredExpression disease BEFREE p16INK4a inactivation is not frequent in uncultured sporadic primary cutaneous melanoma. 10229204 1999
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.700 GeneticVariation disease BEFREE CDKN2A mutations in Scottish families with cutaneous melanoma: results from 32 newly identified families. 16307646 2005
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.700 GeneticVariation disease BEFREE CDKN2A germline mutations in individuals with cutaneous malignant melanoma. 17218939 2007
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.700 Biomarker disease BEFREE CDKN2A and CDK4 are the only known high-penetrant genes conferring proneness to cutaneous melanoma. 20132244 2010
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.700 GeneticVariation disease BEFREE CDKN2A mutations confer a substantial risk of cutaneous melanoma; however, the magnitude of risk is uncertain. 21325014 2011
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.700 Biomarker disease BEFREE CDKN2A and CDK4 are high risk susceptibility genes for cutaneous malignant melanoma. 23384855 2013
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.700 Biomarker disease BEFREE A gene on chromosome 9p, p16INK4, has been implicated in the pathogenesis of cutaneous malignant melanoma in 19 melanoma-prone families. 7666916 1995
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.700 GeneticVariation disease BEFREE A genetic syndrome of cutaneous malignant melanoma and nervous system tumors recently has been characterized and shown to be linked to the INK4 locus in the 9p21 region. 10388473 1999
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.700 Biomarker disease CTD_human A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. 22080950 2011
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.700 Biomarker disease BEFREE A total of 586 individuals (183 CMM) from 53 families (23 CDKN2A (+), 30 CDKN2A (-)) were genotyped for 2964 tagSNPs in 131 DNA repair genes. 21671477 2012
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.700 GeneticVariation disease BEFREE Although mutations in two genes, CDKN2A and CDK4, have been shown to confer an increased risk of CMM, they account for only 20%-25% of families with multiple cases of CMM. 12844286 2003
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.700 GeneticVariation disease BEFREE BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma. 17624602 2007
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.700 GeneticVariation disease BEFREE Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma. 21801156 2011
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.700 GeneticVariation disease BEFREE Evidence for comorbid OM and CM exists in patients with strong phenotypic expression of atypical nevi and conjunctival melanoma, although CDKN2A mutations have not been documented in patients with OM. 12925397 2003
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.700 GeneticVariation disease BEFREE Germ-line mutations in CDKN2A predispose to the familial atypical multiple-mole melanoma (FAMMM) syndrome but also have been seen in rare families in which only 1 or 2 individuals are affected by cutaneous malignant melanoma (CMM). 9389568 1997
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.700 GeneticVariation disease BEFREE Germline CDKN2A mutations are rare in child and adolescent cutaneous melanoma. 15305154 2004
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.700 GeneticVariation disease BEFREE Germline CDKN2A mutations among Greek patients with early-onset and multiple primary cutaneous melanoma. 16374456 2006
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.700 GeneticVariation disease BEFREE Germline mutations in CDKN2A have been linked to development of cutaneous melanoma in some families with hereditary melanoma. 12175554 2002
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.700 GeneticVariation disease BEFREE Germline mutations in CDKN2A and/or red hair color variants in MC1R genes are associated with an increased susceptibility to develop cutaneous melanoma or non melanoma skin cancer. 24742402 2014
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		0.700 GeneticVariation disease BEFREE Germline mutations in the CDKN2A gene have been shown to predispose individuals to cutaneous malignant melanoma. 17492760 2007