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Charcot-Marie-Tooth disease axonal type 2Q

Summary
Synonym
  • CMT2Q
  • Charcot-Marie-Tooth neuropathy type 2Q
  • autosomal dominant Charcot-Marie-Tooth disease type 2Q
  • autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q
Definition
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.
Super Class
Charcot-Marie-Tooth disease type 2 autosomal dominant disease
Disease Ontology
DOID:0110170
ORDO
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
55526 DHTKD1 dehydrogenase E1 and transketolase domain containing 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
209692 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
43689 CG1544 uncharacterized protein
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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: March 31, 2025