CDK4, cyclin dependent kinase 4, 1019

N. diseases: 433; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11547328
rs11547328
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
CUI: C1836892
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		A 0.800 CausalMutation CLINVAR Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants. 23384855 2013
dbSNP: rs11547328
rs11547328
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
CUI: C1836892
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		A 0.800 CausalMutation CLINVAR MC1R variation and melanoma risk in relation to host/clinical and environmental factors in CDKN2A positive and negative melanoma patients. 22804906 2012
dbSNP: rs104894340
rs104894340
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
CUI: C1836892
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		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: rs104894340
rs104894340
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
CUI: C1836892
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.800 GeneticVariation UNIPROT Complete scanning of the CDK4 gene by denaturing gradient gel electrophoresis: a novel missense mutation but low overall frequency of mutations in sporadic metastatic malignant melanoma. 9311594 1997
dbSNP: rs11547328
rs11547328
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
CUI: C1836892
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		A 0.800 CausalMutation CLINVAR Identification of CDK4 sequences involved in cyclin D1 and p16 binding. 9228064 1997
dbSNP: rs104894340
rs104894340
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
CUI: C1836892
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.800 GeneticVariation UNIPROT Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. 8528263 1996
dbSNP: rs11547328
rs11547328
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
CUI: C1836892
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		A 0.800 CausalMutation CLINVAR Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. 8528263 1996
dbSNP: rs104894340
rs104894340
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
CUI: C1836892
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.800 GeneticVariation UNIPROT A p16INK4a-insensitive CDK4 mutant targeted by cytolytic T lymphocytes in a human melanoma. 7652577 1995
dbSNP: rs11547328
rs11547328
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
CUI: C1836892
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		A 0.800 CausalMutation CLINVAR A p16INK4a-insensitive CDK4 mutant targeted by cytolytic T lymphocytes in a human melanoma. 7652577 1995
dbSNP: rs104894340
rs104894340
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
CUI: C1836892
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		T 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs11547328
rs11547328
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
CUI: C1836892
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		A 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs11547328
rs11547328
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
CUI: C1836892
Disease:
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.800 GeneticVariation UNIPROT
dbSNP: rs104894340
rs104894340
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
CUI: C0025202
Disease:
melanoma 		T 0.740 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs104894340
rs104894340
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
CUI: C0025202
Disease:
melanoma 		0.740 GeneticVariation BEFREE We observed no disease-related mutations in CDKN2A, but one patient had a CDK4 R24H mutation and strong family history of melanoma. 19238106 2009
dbSNP: rs104894340
rs104894340
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
CUI: C0025202
Disease:
melanoma 		0.740 GeneticVariation BEFREE No disease-related CDKN2A germline mutations were identified in any of the melanoma patients analysed but the previously described CDK4 mutation, Arg24His, was found in one patient with a family history of melanoma. 17505264 2007
dbSNP: rs104894340
rs104894340
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
CUI: C0025202
Disease:
melanoma 		0.740 GeneticVariation BEFREE In this article, we report that CDK4 codon 24 is mutated from CGT to CAT (Arg24His) in this unusually large melanoma kindred. 15880589 2005
dbSNP: rs104894340
rs104894340
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
CUI: C0025202
Disease:
melanoma 		0.740 GeneticVariation BEFREE Dominant activating mutations affecting codon 24 of the CDK4 gene (replacement of Arg24 by Cys or His) render CDK4 insensitive to p16(INK4) inhibition and are responsible for melanoma susceptibility in some kindreds. 12904177 2003
dbSNP: rs11547328
rs11547328
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
CUI: C1512419
Disease:
Hereditary Melanoma 		0.710 GeneticVariation BEFREE This mutation (replacement of Arg24 by Cys) was first found in patients with hereditary melanoma and renders Cdk4 insensitive to INK4 inhibitors. 11726500 2001
dbSNP: rs11547328
rs11547328
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.710 CausalMutation CLINVAR
dbSNP: rs104894340
rs104894340
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
CUI: C0026764
Disease:
Multiple Myeloma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs104894340
rs104894340
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs104894340
rs104894340
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
CUI: C0151779
Disease:
Cutaneous Melanoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs104894340
rs104894340
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
CUI: C0026764
Disease:
Multiple Myeloma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs104894340
rs104894340
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs104894340
rs104894340
Entrez Id: 1019
Gene Symbol: CDK4
CDK4
CUI: C0151779
Disease:
Cutaneous Melanoma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016