CDKN2A, cyclin dependent kinase inhibitor 2A, 1029

N. diseases: 1314; N. variants: 146
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease:
melanoma 		0.800 GeneticVariation BEFREE High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families. 11807902 2002
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease:
melanoma 		0.800 GeneticVariation BEFREE We investigated the frequency of the MC1R variants in the Italian region of Liguria, where the occurrence and penetrance of melanoma are low and primary susceptibility is characterized by prevalence of the CDKN2A c.301G>T [p.G101W] founder mutation. 15221796 2004
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease:
melanoma 		0.800 GeneticVariation BEFREE Three of them are CDKN2A mutations previously described in the Mediterranean population (p.G101W, p.V59G and c.358delG) in addition to an undescribed deletion (p. M54del) which has been detected in a melanoma kindred. 20653773 2010
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease:
melanoma 		0.800 GeneticVariation BEFREE In two out of six families with both mesothelioma and melanoma we identified either a germline nonsense mutation (c.1153C > T, p.Arg385*) in BAP1 or a recurrent pathogenic germline mutation (c.301G > T, p.Gly101Trp) in CDKN2A. 27181379 2016
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835044
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Germline p16 mutations in familial melanoma. 7987387 1994
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835044
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia. 10874641 1999
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835044
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families. 11506491 2001
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835044
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population. 8710906 1996
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1838547
Disease:
MELANOMA-PANCREATIC CANCER SYNDROME 		0.800 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574 2015
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835044
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Novel germline p16 mutation in familial malignant melanoma in southern Sweden. 8653684 1996
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835044
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Germline mutations of the CDKN2 gene in UK melanoma families. 9328469 1997
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease:
melanoma 		0.800 GeneticVariation BEFREE We found the disease-associated mutations p.R24P (8×), p.N71T (1×), p.G101W (1×), and p.V126D (1×) in the group with affected relatives and p.R24P (2×) in the group with several primary melanomas. 26225579 2015
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835044
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 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
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease:
melanoma 		0.800 GeneticVariation BEFREE One G101W-positive PC patient with a melanoma in a first-degree relative harbored a germline deletion of the second allele, including exon 1B. 14679123 2004
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease:
melanoma 		0.800 GeneticVariation BEFREE Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients. 15577313 2004
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease:
melanoma 		0.800 GeneticVariation BEFREE All other variants detected either constitutionally in familial melanoma patients (I49T, R87P, G101W and V126D) or somatically in melanomas (N71S, and P81L), appeared functionally impaired in this assay. 10389768 1999
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835044
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds. 8595405 1995
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease:
melanoma 		0.800 GeneticVariation BEFREE Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries. 17397031 2007
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835044
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Germline mutation of ARF in a melanoma kindred. 12019208 2002
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835044
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT A novel L94Q mutation in the CDKN2A gene in a melanoma kindred. 14646619 2003
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0025202
Disease:
melanoma 		0.800 GeneticVariation BEFREE Two p16 germline mutations were identified: G101W, which has been previously observed in a number of melanoma kindreds, and G122V, a novel missense mutation. 10951521 2000
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835044
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. 9425228 1998
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835044
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients. 19260062 2009
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835044
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT A novel L94Q mutation in the CDKN2A gene in a melanoma kindred. 14646619 2003
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1835044
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population. 8710906 1996