Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB MUTATION
GNPTAB MUTATION - Associated Disease
- Type II Mucolipidosis
- Source Database
- DisGeNET
- Description
- Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition.
- Pubmed
- 25505245
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree,ORPHANET
- DisGENET score for the Gene Disease association
- 0.122442976848723
Drugs