Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB MUTATION
GNPTAB MUTATION - Associated Disease
- Lysosomal Storage Diseases
- Source Database
- DisGeNET
- Description
- GNPTAB encodes the α and β subunits of GlcNAc-1-phosphotransferase, and mutations in this gene cause the lysosomal storage disorders mucolipidosis II and III αβ.
- Pubmed
- 25505245
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
Drugs