Annotation Detail
Information
- Associated Genes
- GLB1
- Associated Variants
-
GLB1 p.Trp273Leu (p.W273L)
(
ENST00000307363.10,
ENST00000307377.12,
ENST00000399402.7 )
GLB1 p.Trp273Leu (p.W273L) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 ) - Associated Disease
- mucopolysaccharidosis type IVB
- Source Database
- DisGeNET
- Description
- Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.
- Pubmed
- 11511921
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.367057488674088
- Year of publication
- 2001
Drugs