Annotation Detail
Information
- Associated Genes
- FUS
- Associated Variants
-
FUS p.Arg521Gly (p.R521G)
(
ENST00000254108.12,
ENST00000715542.1,
ENST00000380244.8,
ENST00000568685.1 )
FUS p.Arg521Cys (p.R521C) ( ENST00000254108.12, ENST00000380244.8, ENST00000568685.1, ENST00000715542.1 )
FUS p.Arg521Gly (p.R521G) ( ENST00000254108.12, ENST00000380244.8, ENST00000568685.1, ENST00000715542.1 )
FUS p.Arg521Cys (p.R521C) ( ENST00000254108.12, ENST00000380244.8, ENST00000568685.1, ENST00000715542.1 ) - Associated Disease
- AMYOTROPHIC LATERAL SCLEROSIS 1
- Source Database
- DisGeNET
- Description
- FUS/TLS-immunoreactive neuronal and glial cell inclusions increase with disease duration in familial amyotrophic lateral sclerosis with an R521C FUS/TLS mutation.
- Pubmed
- 22878663
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0122148842436137
- Year of publication
- 2012
Drugs