Charcot-Marie-Tooth disease dominant intermediate C

Summary
Synonym
  • CMTDIC
  • Charcot-Marie-Tooth neuropathy dominant intermediate C
  • DI-CMTC
  • autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Definition
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35.
Super Class
Charcot-Marie-Tooth disease intermediate type autosomal dominant disease
Disease Ontology
DOID:0110199
Mondo Disease Ontology
MeSH
ORDO
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
8565 YARS1 tyrosyl-tRNA synthetase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
107271 Yars1 tyrosyl-tRNA synthetase 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P54577 Tyrosine--tRNA ligase, cytoplasmic
Displaying 1 entry
UniProt ID Protein Name Source
Q91WQ3 Tyrosine--tRNA ligase, cytoplasmic

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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: April 7, 2025