rs104894340, CDK4

N. diseases: 5
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
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
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
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
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
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
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
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
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
CUI: C1836892
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
0.800 SusceptibilityMutation CLINVAR