Annotation Detail
Information
- Associated Genes
- FOXP2
- Associated Variants
-
FOXP2 p.Arg578His (p.R578H)
(
ENST00000350908.9,
ENST00000393494.6,
ENST00000393498.6,
ENST00000403559.9,
ENST00000408937.7,
ENST00000634411.1,
ENST00000635534.1,
ENST00000635638.1,
ENST00000703612.1,
ENST00000703613.1,
ENST00000703614.1,
ENST00000703616.1 )
FOXP2 p.Arg578His (p.R578H) ( ENST00000350908.9, ENST00000393494.6, ENST00000393498.6, ENST00000403559.9, ENST00000408937.7, ENST00000634411.1, ENST00000635534.1, ENST00000635638.1, ENST00000703612.1, ENST00000703613.1, ENST00000703614.1, ENST00000703616.1 ) - Associated Disease
- Speech and language disorder
- Source Database
- DisGeNET
- Description
- FOXP2 promotes the nuclear translocation of POT1, but FOXP2(R553H), mutation related to speech-language disorder, partially prevents it.
- Pubmed
- 21684252
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00760037241824849
- Year of publication
- 2011
Drugs