Annotation Detail
Information
- Associated Genes
- GSN
- Associated Variants
-
GSN p.Asn231Asp (p.N231D)
(
ENST00000373808.8,
ENST00000373818.8,
ENST00000373823.7,
ENST00000394353.7,
ENST00000432226.7,
ENST00000449733.7,
ENST00000545652.6,
ENST00000699558.1 )
GSN p.Asn231Asp (p.N231D) ( ENST00000373808.8, ENST00000373818.8, ENST00000373823.7, ENST00000394353.7, ENST00000432226.7, ENST00000449733.7, ENST00000545652.6, ENST00000699558.1 ) - Associated Disease
- amyloidosis
- Source Database
- DisGeNET
- Description
- The present study demonstrates the first successful in vitro creation of amyloid-like fibrils from Asn187 gelsolin peptides and provides evidence that amyloid formation in Finnish amyloidosis is a direct consequence of the Asp187----Asn substitution in gelsolin.
- Pubmed
- 1311922
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0111390482769566
- Year of publication
- 1992
Drugs