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 1 - 10 of 20 in total
Gene ID Gene Symbol Description Source
501 ALDH7A1 aldehyde dehydrogenase 7 family member A1
1374 CPT1A carnitine palmitoyltransferase 1A
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)
3417 IDH1 isocitrate dehydrogenase (NADP(+)) 1
3956 LGALS1 galectin 1
4047 LSS lanosterol synthase
4952 OCRL OCRL inositol polyphosphate-5-phosphatase

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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