CDK4, cyclin dependent kinase 4, 1019

N. diseases: 433; N. variants: 8
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 ×
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: 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: 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: 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: 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