Annotation Detail
Information
- Associated Genes
- GRN
- Associated Variants
-
GRN c.*78C>T
(
ENST00000589265.5,
ENST00000053867.8 )
GRN c.*78C>T ( ENST00000053867.8, ENST00000589265.5 ) - Associated Disease
- frontotemporal dementia
- Source Database
- DisGeNET
- Description
- A single nucleotide polymorphism (rs5848) located in the 3'- untranslated region of GRN has recently been associated with a risk of frontotemporal lobar degeneration (FTLD) in North American population particularly in pathologically confirmed cases with neural inclusions immunoreactive for ubiquitin and TAR DNA-binding protein 43 (TDP-43), but negative for tau and alpha-synuclein (FTLD-TDP).
- Pubmed
- 19847305
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.282117097434165
- Year of publication
- 2009
Drugs