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tubular aggregate myopathy 1

Definition: A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the STIM1 gene on chromosome 11p15.
Super Class: autosomal dominant disease myopathy

Disease Ontology

DOID:0080089

Mondo Disease Ontology

OMIM

GARD

MGI genotype (from TogoID)

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
6786	STIM1	stromal interaction molecule 1	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
20866	Stim1	stromal interaction molecule 1	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
361618	Stim1	stromal interaction molecule 1	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
32556	Stim	Stromal interaction molecule	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
175201	stim-1	Stromal interaction molecule 1	Alliance of Genome Resources

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Last updated: December 9, 2024