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 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: C1838547
Disease:
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.800 CausalMutation CLINVAR Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma. 26681309 2016
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1838547
Disease:
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.800 CausalMutation CLINVAR Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup. 26775776 2016
dbSNP: rs3731211
rs3731211
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0032181
Disease:
Platelet Count measurement 		A 0.800 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1838547
Disease:
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.800 CausalMutation CLINVAR Germline CDKN2A mutations in childhood melanoma: a case of melanoma-pancreatic cancer syndrome. 26381259 2015
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: 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: C1838547
Disease:
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.800 CausalMutation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282 2011
dbSNP: rs3731211
rs3731211
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0032181
Disease:
Platelet Count measurement 		A 0.800 GeneticVariation GWASDB New gene functions in megakaryopoiesis and platelet formation. 22139419 2011
dbSNP: rs3731211
rs3731211
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0032181
Disease:
Platelet Count measurement 		A 0.800 GeneticVariation GWASCAT New gene functions in megakaryopoiesis and platelet formation. 22139419 2011
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: C1838547
Disease:
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.800 CausalMutation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136 2010
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1838547
Disease:
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.800 CausalMutation CLINVAR Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients. 19260062 2009
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 Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients. 19260062 2009
dbSNP: rs104894097
rs104894097
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: rs104894098
rs104894098
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: rs104894099
rs104894099
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: rs137854597
rs137854597
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: rs137854599
rs137854599
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: rs878853647
rs878853647
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: 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: 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 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