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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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MIRAGE
familial renal glucosuria
Summary
- Synonym
-
- FRG
- SGLT2 deficiency
- familial renal glycosuria
- hereditary renal glycosuria
- Definition
- A renal glycosuria that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the SLC5A2 gene on chromosome 16p11.2.
- Super Class
- autosomal dominant disease autosomal recessive disease renal glycosuria
External Links
- Disease Ontology
- DOID:0070613
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P31639 | Sodium/glucose cotransporter 2 |
