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autosomal dominant Emery-Dreifuss muscular dystrophy 5

Summary
Synonym
  • EDMD5
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Definition
An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2.
Super Class
Emery-Dreifuss muscular dystrophy autosomal dominant disease
Disease Ontology
DOID:0070250
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23224 SYNE2 spectrin repeat containing nuclear envelope protein 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
319565 Syne2 spectrin repeat containing, nuclear envelope 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
3771968 Msp300 Muscle-specific protein 300 kDa
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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: December 9, 2024