Annotation Detail
Information
- Associated Genes
- MAPT
- Associated Variants
-
MAPT p.Pro693Leu (p.P693L)
(
ENST00000431008.7,
ENST00000446361.7,
ENST00000262410.10,
ENST00000415613.6,
ENST00000574436.5,
ENST00000334239.12,
ENST00000420682.7,
ENST00000571987.5,
ENST00000351559.10,
ENST00000344290.10,
ENST00000535772.6,
ENST00000680674.1 )
MAPT p.Pro693Leu (p.P693L) ( ENST00000262410.10, ENST00000334239.12, ENST00000344290.10, ENST00000351559.10, ENST00000415613.6, ENST00000420682.7, ENST00000431008.7, ENST00000446361.7, ENST00000535772.6, ENST00000571987.5, ENST00000574436.5, ENST00000680674.1 ) - Associated Disease
- Tauopathies
- Source Database
- DisGeNET
- Description
- Previous studies identified EFhd2 associated with pathological forms of tau proteins in the tauopathy mouse model JNPL3, which expresses the human tau(P301L) mutant.
- Pubmed
- 23331044
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.208632972776538
- Year of publication
- 2013
Drugs