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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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MIRAGE
nephronophthisis
Summary
- Synonym
-
- medullary cystic disease
- medullary cystic kidney
- Definition
- A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy).
- Super Class
- autosomal recessive disease kidney disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q5HYA8 | Meckelin | |
| Q68CZ1 | Protein fantom | |
| Q7Z494 | Nephrocystin-3 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8K3E5 | Jouberin | |
| Q9EPK5 | WW domain-containing transcription regulator protein 1 |
