Annotation Detail
Information
- Associated Genes
- GLB1
- Associated Variants
-
GLB1 p.Arg482His (p.R482H)
(
ENST00000307363.10,
ENST00000307377.12,
ENST00000399402.7 )
GLB1 p.Arg482His (p.R482H) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 ) - Associated Disease
- Gangliosidosis GM1
- Source Database
- DisGeNET
- Description
- The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.
- Pubmed
- 15943552
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.149355448271329
- Year of publication
- 2005
Drugs