Annotation Detail
Information
- Associated Genes
- NEU1
- Associated Variants
-
NEU1 p.Val217Met (p.V217M)
(
ENST00000375631.5 )
NEU1 p.Val217Met (p.V217M) ( ENST00000375631.5 ) - Associated Disease
- Neuraminidase 1 deficiency
- Source Database
- DisGeNET
- Description
- Molecular and structural studies of Japanese patients with sialidosis type 1.
- Pubmed
- 10944856
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.321357209360402
- Year of publication
- 2000
Drugs