Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 GeneticVariation UNIPROT Germline mutation of ARF in a melanoma kindred. 12019208

2002
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 GeneticVariation UNIPROT A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families. 11506491

2001
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 GeneticVariation UNIPROT CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia. 10874641

1999
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 GeneticVariation UNIPROT Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. 9425228

1998
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 GeneticVariation UNIPROT Five novel somatic CDKN2/p16 mutations identified in melanoma, glioma and carcinoma of the pancreas. Mutations in brief no. 170. Online. 10651484

1998
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 GeneticVariation UNIPROT Germline mutations of the CDKN2 gene in UK melanoma families. 9328469

1997
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 GeneticVariation UNIPROT 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: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 GeneticVariation UNIPROT Novel germline p16 mutation in familial malignant melanoma in southern Sweden. 8653684

1996
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 GeneticVariation UNIPROT Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds. 8595405

1995
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 GeneticVariation UNIPROT Germline p16 mutations in familial melanoma. 7987387

1994
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.700 GeneticVariation UNIPROT

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 CausalMutation CGI

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 GenomicAlterations CGI

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 Biomarker CTD_human

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.690 Biomarker CTD_human Whole-genome mutational landscape and characterization of noncoding and structural mutations in liver cancer. 27064257

2016
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.690 Biomarker CTD_human Role of HSP90, CDC37, and CRM1 as modulators of P16(INK4A) activity in rat liver carcinogenesis and human liver cancer. 16317707

2005
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.690 Biomarker CTD_human Abnormalities of the ARF-p53 pathway in primary angiosarcomas of the liver. 12378512

2002
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835042
Disease: Melanoma astrocytoma syndrome
Melanoma astrocytoma syndrome 		0.610 GeneticVariation ORPHANET A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family. 11136714

2001
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835042
Disease: Melanoma astrocytoma syndrome
Melanoma astrocytoma syndrome 		0.610 Biomarker CTD_human

Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.600 Biomarker GENOMICS_ENGLAND Biallelic loss of CDKN2A is associated with poor response to treatment in pediatric acute lymphoblastic leukemia. 27756164

2017
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.600 Biomarker CTD_human Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer. 26098869

2015
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 Biomarker CLINGEN Indication for CDKN2A-mutation analysis in familial pancreatic cancer families without melanomas. 22636603

2012
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.600 Biomarker CTD_human This study suggests that P16/CDKN2A gene inactivation in asbestos-exposed NSCLC cases mainly occurs via deletion, a feature also found in malignant mesothelioma, a tumor independent of tobacco smoking but associated with asbestos exposure, suggesting a possible relationship with an effect of asbestos fibers. 19375815

2010
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.600 Biomarker CTD_human Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk. 20453839

2010
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.600 Biomarker CLINGEN Novel and recurrent p14 mutations in Italian familial melanoma. 20132244

2010