cataract 5 multiple types

Summary
Synonym
  • CTRCT5
Definition
A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22.
Super Class
autosomal dominant disease cataract
External Links
Disease Ontology
DOID:0110255
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 17 of 17 in total
Gene ID Gene Symbol Description Source
6652 SORD sorbitol dehydrogenase
9197 SLC33A1 solute carrier family 33 member 1
25839 COG4 component of oligomeric golgi complex 4
27087 B3GAT1 beta-1,3-glucuronyltransferase 1
51084 CRYL1 crystallin lambda 1
51763 INPP5K inositol polyphosphate-5-phosphatase K
55750 AGK acylglycerol kinase

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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