Annotation Detail

Information
Associated Genes
GNAQ
Associated Variants
GNAQ MUTATION
GNAQ MUTATION
Associated Disease
melanoma
Source Database
DisGeNET
Description
Intriguingly, enforced expression of GNAQ(Q209L) progressively eliminated melanocytes from the interfollicular epidermis in adults, possibly explaining the near absence of GNAQ(Q209) mutations in human epithelial melanomas.
Pubmed
26113083
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
6
Original source reporting the Gene Disease association
BeFree,CTD_human,GAD,LHGDN
DisGENET score for the Gene Disease association
0.137621315598481
Drugs