CDK4, cyclin dependent kinase 4, 1019

N. diseases: 433; N. variants: 8
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836892
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.700 Biomarker disease CLINGEN The interplay of CDK4 and CDK6 in melanoma. 30858922 2019
CUI: C1836892
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.700 Biomarker disease CLINGEN Familial risk of melanoma and links with other cancers. 30190834 2015
CUI: C1836892
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.700 Biomarker disease CLINGEN Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants. 23384855 2013
CUI: C1836892
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.700 CausalMutation disease CLINVAR Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants. 23384855 2013
CUI: C1836892
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.700 CausalMutation disease CLINVAR MC1R variation and melanoma risk in relation to host/clinical and environmental factors in CDKN2A positive and negative melanoma patients. 22804906 2012
CUI: C1836892
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.700 Biomarker disease CLINGEN A large Norwegian family with inherited malignant melanoma, multiple atypical nevi, and CDK4 mutation. 15880589 2005
CUI: C1836892
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.700 Biomarker disease CLINGEN Germ line transmission of the Cdk4(R24C) mutation facilitates tumorigenesis and escape from cellular senescence. 11756559 2002
CUI: C1836892
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.700 Biomarker disease CLINGEN Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. 9425228 1998
CUI: C1836892
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation disease UNIPROT Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. 9425228 1998
CUI: C1836892
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation disease 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
CUI: C1836892
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.700 CausalMutation disease CLINVAR Identification of CDK4 sequences involved in cyclin D1 and p16 binding. 9228064 1997
CUI: C1836892
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.700 Biomarker disease CLINGEN Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. 8528263 1996
CUI: C1836892
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.700 CausalMutation disease CLINVAR Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. 8528263 1996
CUI: C1836892
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.700 Biomarker disease GENOMICS_ENGLAND Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. 8528263 1996
CUI: C1836892
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation disease UNIPROT Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. 8528263 1996
CUI: C1836892
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation disease UNIPROT A p16INK4a-insensitive CDK4 mutant targeted by cytolytic T lymphocytes in a human melanoma. 7652577 1995
CUI: C1836892
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.700 Biomarker disease CLINGEN A p16INK4a-insensitive CDK4 mutant targeted by cytolytic T lymphocytes in a human melanoma. 7652577 1995
CUI: C1836892
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.700 CausalMutation disease CLINVAR A p16INK4a-insensitive CDK4 mutant targeted by cytolytic T lymphocytes in a human melanoma. 7652577 1995
CUI: C1836892
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.700 SusceptibilityMutation disease CLINVAR
CUI: C1836892
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 		0.700 Biomarker disease CTD_human