Charcot-Marie-Tooth disease dominant intermediate A

Summary
Synonym
  • CMTDIA
  • Charcot-Marie-Tooth neuropathy dominant intermediate A
  • DI-CMTA
  • autosomal dominant intermediate Charcot-Marie-Tooth disease type A
Definition
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in variation in the region 10q24.1-q25.1.
Super Class
Charcot-Marie-Tooth disease intermediate type autosomal dominant disease
Disease Ontology
DOID:0110202
Mondo Disease Ontology
MeSH
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
8729 GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
107338 Gbf1 golgi-specific brefeldin A-resistance factor 1

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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