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
External Links
Disease Ontology
DOID:0110241
Mondo Disease Ontology
OMIM
Related Genes
Displaying entries 1 - 10 of 13 in total
Gene ID Gene Symbol Description Source
501 ALDH7A1 aldehyde dehydrogenase 7 family member A1
1593 CYP27A1 cytochrome P450 family 27 subfamily A member 1
2262 GPC5 glypican 5
2584 GALK1 galactokinase 1
2651 GCNT2 glucosaminyl (N-acetyl) transferase 2 (I blood group)
4047 LSS lanosterol synthase
4952 OCRL OCRL inositol polyphosphate-5-phosphatase
5728 PTEN phosphatase and tensin homolog
6652 SORD sorbitol dehydrogenase
9197 SLC33A1 solute carrier family 33 member 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: August 19, 2024