cataract 1 multiple types

Summary
Synonym
  • CTRCT1
  • Duffy linked cataract
  • cataract 1, multiple types, with or without microcornea
Definition
A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21.
Super Class
autosomal dominant disease cataract
External Links
Disease Ontology
DOID:0110231
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 13 of 13 in total
Gene ID Gene Symbol Description Source
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