Annotation Detail
Information
- Associated Genes
- GLB1
- Associated Variants
-
GLB1 p.Leu436Phe (p.L436F)
(
ENST00000307363.10,
ENST00000307377.12,
ENST00000399402.7 )
GLB1 p.Leu436Phe (p.L436F) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 ) - Associated Disease
- Gangliosidosis GM1
- Source Database
- DisGeNET
- Description
- We report the modulating action of the L436F new polymorphism identified in the GLB1 gene of a patient affected by GM1 gangliosidosis with onset at 17 months and rapidly progressive psychomotor deterioration.
- Pubmed
- 12644936
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.149355448271329
- Year of publication
- 2003
Drugs