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Standards Ontologies Notations
cataract 48

Summary
Synonym
  • CTRCT48
Definition
A cataract that has_material_basis_in homozygous mutation in the DNMBP gene on chromosome 10q24 and is characterized by infantile or early-childhood cataracts and visual impairment.
Super Class
autosomal recessive disease cataract
Disease Ontology
DOID:0070354
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
7074 TIAM1 TIAM Rac1 associated GEF 1
23268 DNMBP dynamin binding protein
26230 TIAM2 TIAM Rac1 associated GEF 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
24001 Tiam2 T cell lymphoma invasion and metastasis 2
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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: December 9, 2024