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 gelsolin fragments isolated from at least one patient with amyloidosis have been reported to have an amino acid substitution, with asparagine replacing aspartic acid at position 187 of the plasma gelsolin.
- Pubmed
- 1652889
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0111390482769566
- Year of publication
- 1991
Drugs