Annotation Detail
Information
- Associated Genes
- NEU1
- Associated Variants
-
NEU1 p.Glu377Ter (p.E377*)
(
ENST00000375631.5 )
NEU1 p.Pro316Ser (p.P316S) ( ENST00000375631.5 )
NEU1 p.Gly243Arg (p.G243R) ( ENST00000375631.5 )
NEU1 p.Val217Met (p.V217M) ( ENST00000375631.5 )
NEU1 p.Glu377Ter (p.E377*) ( ENST00000375631.5 )
NEU1 p.Pro316Ser (p.P316S) ( ENST00000375631.5 )
NEU1 p.Gly243Arg (p.G243R) ( ENST00000375631.5 )
NEU1 p.Val217Met (p.V217M) ( ENST00000375631.5 ) - Associated Disease
- Sialidosis, Type I
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12027144187208
- Year of publication
- NA
Drugs