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Standards Ontologies Notations
cataract 41

Summary
Synonym
  • CTRCT41
  • congenital nuclear type cataract 41
Definition
A cataract that has_material_basis_in heterozygous mutation in the WFS1 gene on chromosome 4p16.
Super Class
autosomal dominant disease cataract
Disease Ontology
DOID:0110241
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7466 WFS1 wolframin ER transmembrane glycoprotein
Displaying 1 entry
Gene ID Gene Symbol Description Source
22393 Wfs1 wolframin ER transmembrane glycoprotein
Displaying 1 entry
Gene ID Gene Symbol Description Source
42679 wfs1 wolfram syndrome 1
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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: December 9, 2024