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 1 - 10 of 14 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
4594 MMUT methylmalonyl-CoA mutase
4952 OCRL OCRL inositol polyphosphate-5-phosphatase
5728 PTEN phosphatase and tensin homolog
6652 SORD sorbitol dehydrogenase

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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