cataract 32 multiple types

Summary
Synonym
  • CTRCT32
Definition
A cataract that has_material_basis_in mutation in the region 14q22-q23.
Super Class
autosomal dominant disease cataract
External Links
Disease Ontology
DOID:0110227
Mondo Disease Ontology
OMIM
Related Genes
Displaying entries 11 - 20 of 27 in total
Gene ID Gene Symbol Description Source
4047 LSS lanosterol synthase
4153 MBL2 mannose binding lectin 2
4952 OCRL OCRL inositol polyphosphate-5-phosphatase
5728 PTEN phosphatase and tensin homolog
6385 SDC4 syndecan 4
6441 SFTPD surfactant protein D
6609 SMPD1 sphingomyelin phosphodiesterase 1
6652 SORD sorbitol dehydrogenase
9126 SMC3 structural maintenance of chromosomes 3
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