Source: CLINVAR

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 [CDKN2A-mutation in a family with hereditary malignant melanoma]. 25294512

2014
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation 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
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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation 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
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: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation 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
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation CLINVAR The premaxilla and the ancestry of man. 20340316

1947
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR The p16INK4a/CDKN2A tumor suppressor and its relatives. 9823374

1998
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR The p16INK4a/CDKN2A tumor suppressor and its relatives. 9823374

1998
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy. 17992122

2007
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 GeneticVariation CLINVAR The missing puzzle piece: splicing mutations. 24294354

2013
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation CLINVAR The melanoma-associated 24 base pair duplication in p16INK4a is functionally impaired. 15945100

2005
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 GeneticVariation CLINVAR The melanoma-associated 24 base pair duplication in p16INK4a is functionally impaired. 15945100

2005
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation CLINVAR The melanoma-associated 24 base pair duplication in p16INK4a is functionally impaired. 15945100

2005
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.110 CausalMutation 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
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: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 CausalMutation CLINVAR Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma. 8668202

1996
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.500 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 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 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 CausalMutation CLINVAR Swedish CDKN2A mutation carriers do not present the atypical mole syndrome phenotype. 20526219

2010