cataract 4 multiple types

Summary
Synonym
  • CTRCT4
  • cataract 4 multiple types with or without microcornea
Definition
A cataract that has_material_basis_in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33.
Super Class
autosomal dominant disease cataract
External Links
Disease Ontology
DOID:0110234
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 20 of 20 in total
Gene ID Gene Symbol Description Source
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5728 PTEN phosphatase and tensin homolog
6390 SDHB succinate dehydrogenase complex iron sulfur subunit B
6391 SDHC succinate dehydrogenase complex subunit C
6392 SDHD succinate dehydrogenase complex subunit D
6652 SORD sorbitol dehydrogenase
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