Annotation Detail
Information
- Associated Genes
- MAPT
- Associated Variants
-
MAPT c.*26T>C
(
ENST00000262410.10,
ENST00000344290.10,
ENST00000351559.10,
ENST00000420682.7,
ENST00000446361.7,
ENST00000535772.6,
ENST00000680674.1 )
MAPT c.*26T>C ( ENST00000262410.10, ENST00000344290.10, ENST00000351559.10, ENST00000420682.7, ENST00000446361.7, ENST00000535772.6, ENST00000680674.1 ) - Associated Disease
- Corticobasal degeneration
- Source Database
- DisGeNET
- Description
- We also observed suggestive association between AD and the marker rs9468, which defines the H1 haplotype, an extended haplotype that spans the MAPT gene and has previously been implicated in other neurodegenerative disorders including Parkinson's disease, progressive supranuclear palsy, and corticobasal degeneration.
- Pubmed
- 22027014
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00895758177865001
- Year of publication
- 2012
Drugs