Annotation Detail
Information
- Associated Genes
- MAPT
- Associated Variants
-
MAPT c.-17-19975G>A
(
ENST00000446361.7,
ENST00000262410.10,
ENST00000344290.10,
ENST00000535772.6,
ENST00000334239.12,
ENST00000420682.7,
ENST00000680674.1,
ENST00000351559.10 )
MAPT c.1999-6612A>G ( ENST00000344290.10, ENST00000574436.5, ENST00000535772.6, ENST00000262410.10, ENST00000415613.6, ENST00000446361.7, ENST00000571987.5, ENST00000431008.7, ENST00000351559.10, ENST00000334239.12, ENST00000420682.7, ENST00000680674.1 )
MAPT c.-17-19975G>A ( ENST00000262410.10, ENST00000334239.12, ENST00000344290.10, ENST00000351559.10, ENST00000420682.7, ENST00000446361.7, ENST00000535772.6, ENST00000680674.1 )
MAPT c.1999-6612A>G ( 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
- progressive supranuclear palsy
- Source Database
- DisGeNET
- Description
- We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT brain expression.
- Pubmed
- 21685912
- Original source reporting the Gene Disease association
- GWASCAT
- DisGENET score for the Gene Disease association
- 0.558157698507233
- Year of publication
- 2011
Drugs