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, Generalized GM1, Type 2
- Source Database
- DisGeNET
- Description
- Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.
- Pubmed
- 12644936
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.440814325616241
- Year of publication
- 2003
Drugs