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Standards Ontologies Notations
tubular aggregate myopathy 2

Summary
Definition
A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24.
Super Class
autosomal dominant disease myopathy
External Links
Disease Ontology
DOID:0080686
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
84876 ORAI1 ORAI calcium release-activated calcium modulator 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
109305 Orai1 ORAI calcium release-activated calcium modulator 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
304496 Orai1 ORAI calcium release-activated calcium modulator 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
402892 orai1b ORAI calcium release-activated calcium modulator 1b
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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