Annotation Detail

Information
Associated Genes
CDKN2A
Associated Variants
CDKN2A MUTATION
CDKN2A MUTATION
Associated Disease
Hereditary Melanoma
Source Database
DisGeNET
Description
Familial melanomas with CDKN2A mutations preferentially express a histologic phenotype of dense pigmentation, high pagetoid scatter, and a non-spindle cell morphology in the vertical growth phase.
Pubmed
25592620
Section of the abstract supporting the evidence
CONCLUSION
Number of the section of the abstract supporting the evidence
6
Number of the sentence supporting the evidence
9
Original source reporting the Gene Disease association
BeFree,CLINVAR,GAD
DisGENET score for the Gene Disease association
0.145439591105428
Drugs