rs104894340, CDK4

N. diseases: 5
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
melanoma
CUI: C0025202
Disease: melanoma
0.740 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
melanoma
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
melanoma
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
melanoma
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
melanoma
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
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016