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Standards Ontologies Notations
myofibrillar myopathy 5

Summary
Synonym
  • filaminopathy
Definition
A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32.
Super Class
autosomal dominant disease myofibrillar myopathy
Disease Ontology
DOID:0080096
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
2316 FLNA filamin A
2317 FLNB filamin B
2318 FLNC filamin C
Displaying all 2 entries
Gene ID Gene Symbol Description Source
68794 Flnc filamin C, gamma
286940 Flnb filamin, beta
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International Collaboration

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: December 9, 2024