Annotation Detail

Information
Associated Genes
CDKN2A
Associated Variants
CDKN2A MUTATION
CDKN2A MUTATION
Associated Disease
Hereditary Melanoma
Source Database
DisGeNET
Description
Germline mutations in the tumour suppressor gene CDKN2A occur in 5-20% of familial melanoma cases.
Pubmed
24935963
Section of the abstract supporting the evidence
BACKGROUND
Number of the section of the abstract supporting the evidence
1
Number of the sentence supporting the evidence
1
Original source reporting the Gene Disease association
BeFree,CLINVAR,GAD
DisGENET score for the Gene Disease association
0.145439591105428
Drugs