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Glycan Structure Repository
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Glycoconjugate Repository
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Glycomics MS raw data Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
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Repository for lectin-assisted multimodality data
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GALAXY
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Guidelines
MIRAGE
glucose transporter type 1 deficiency syndrome
Summary
- Synonym
-
- GLUT1DS
- Definition
- A glucose metabolism disease characterized by deficient glucose transport over the blood-brain barrier and reduced glucose availability in the central nervous system that has_material_basis_in mutation in the SLC2A1 on chromosome 1p34.2.
- Super Class
- autosomal genetic disease glucose metabolism disease
External Links
- Disease Ontology
- DOID:0070560
- Mondo Disease Ontology
- MeSH
- UMLS
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11166 | Solute carrier family 2, facilitated glucose transporter member 1 |
