Annotation Detail
Information
- Associated Genes
- GLB1
- Associated Variants
-
GLB1 p.Arg59His (p.R59H)
(
ENST00000307363.10,
ENST00000307377.12,
ENST00000399402.7 )
GLB1 p.Arg59His (p.R59H) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 ) - Associated Disease
- Lysosomal Storage Diseases
- Source Database
- DisGeNET
- Description
- Here, we describe the first founder mutation leading to a lysosomal storage disorder in this population: R59H in GLB1, which causes infantile GM1-gangliosidosis.
- Pubmed
- 16466959
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00380018620912425
- Year of publication
- 2006
Drugs