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Standards Ontologies Notations
X-linked Alport syndrome

Summary
Synonym
  • nephropathy and deafness, X-linked
Definition
An Alport syndrome that has_material_basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5).
Super Class
Alport syndrome X-linked dominant disease
Disease Ontology
DOID:0110034
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1287 COL4A5 collagen type IV alpha 5 chain
Displaying all 2 entries
Gene ID Gene Symbol Description Source
33726 vkg viking
33727 Col4a1 Collagen type IV alpha 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
181708 let-2 Collagen alpha-2(IV) chain
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024