Annotation Detail
Information
- Associated Genes
- NEU1
- Associated Variants
-
NEU1 p.Gly243Arg (p.G243R)
(
ENST00000375631.5 )
NEU1 p.Val217Met (p.V217M) ( ENST00000375631.5 )
NEU1 p.Gly243Arg (p.G243R) ( ENST00000375631.5 )
NEU1 p.Val217Met (p.V217M) ( ENST00000375631.5 ) - Associated Disease
- Neuraminidase 1 deficiency
- Source Database
- DisGeNET
- Description
- Autopsy findings of a patient, with sialidosis type I phenotype carrying V217M/G243R mutations in the lysosomal sialidase gene and biochemically defined isolated sialidase deficiency, who died of intractable lymphoma at the age of 32 years, are described.
- Pubmed
- 19415310
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.321357209360402
- Year of publication
- 2010
Drugs