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 LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
- Source Database
- DisGeNET
- Description
- A single nucleotide polymorphism in the 3'-untranslated region of the progranulin gene (GRN; 3'UTR+78C>T; rs5848) was reported to alter the risk for frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U).
- Pubmed
- 19473366
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.441900093104562
- Year of publication
- 2009
Drugs