autosomal dominant Alport syndrome

Summary
Definition
An Alport syndrome that has_material_basis_in heterozygous mutation in the COL4A3 gene.
Super Class
Alport syndrome autosomal dominant disease
Disease Ontology
DOID:0110032
Mondo Disease Ontology
ORDO
GARD
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
1285 COL4A3 collagen type IV alpha 3 chain
4627 MYH9 myosin heavy chain 9
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: April 7, 2025