Annotation Detail
Information
- Associated Genes
- GRN
- Associated Variants
-
TMEM106B p.Thr185Ser (p.T185S)
(
ENST00000396667.7,
ENST00000396668.8,
ENST00000444443.6,
ENST00000704348.1,
ENST00000704349.1,
ENST00000704416.1,
ENST00000704417.1,
ENST00000704455.1 )
TMEM106B p.Thr185Ser (p.T185S) ( ENST00000396667.7, ENST00000396668.8, ENST00000444443.6, ENST00000704348.1, ENST00000704349.1, ENST00000704416.1, ENST00000704417.1, ENST00000704455.1 ) - Associated Disease
- frontotemporal dementia
- Source Database
- DisGeNET
- Description
- We studied the p.T185S TMEM106B genetic variant previously implicated in frontotemporal dementia with TAR DNA binding protein 43 pathology caused by progranulin mutations.
- Pubmed
- 23742080
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.282117097434165
- Year of publication
- 2013
Drugs