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Standards Ontologies Notations
visual impairment and progressive phthisis bulbi

Summary
Definition
An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3.
Super Class
autosomal recessive disease eye disease
External Links
Disease Ontology
DOID:0070356
Mondo Disease Ontology
MeSH
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
2011 MARK2 microtubule affinity regulating kinase 2
4140 MARK3 microtubule affinity regulating kinase 3
Displaying all 4 entries
Gene ID Gene Symbol Description Source
13728 Mark2 MAP/microtubule affinity regulating kinase 2
17169 Mark3 MAP/microtubule affinity regulating kinase 3
226778 Mark1 MAP/microtubule affinity regulating kinase 1
232944 Mark4 MAP/microtubule affinity regulating kinase 4
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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