cataract 40

Summary
Synonym
  • CTRCT40
  • cataract 40 X-linked
  • cataract 40 with or without microcornea
Definition
A cataract that has_material_basis_in mutation in the NHS gene on chromosome Xp22.
Super Class
X-linked monogenic disease cataract
External Links
Disease Ontology
DOID:0110272
Mondo Disease Ontology
OMIM
Related Genes
Displaying entries 11 - 14 of 14 in total
Gene ID Gene Symbol Description Source
9197 SLC33A1 solute carrier family 33 member 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