Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
Resources Genes Glycoproteins Lectins Glycolipids Glycans Pathways Diseases Organisms
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Other Information
Release Statistics Download
Tools
SugarDrawer GlycanBuilder Glycan Converters GlycoMaple GlycomeAtlas LM-GlycomeAtlas GALAXY MCAW GlycoSim GRable
Search Tools
Cross Search Glycan Search Publication Search Programmatic Access
Standards Ontologies Notations
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
External Links
Disease Ontology
DOID:0110170
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 30 in total
Gene ID Gene Symbol Description Source
410 ARSA arylsulfatase A
821 CANX calnexin
847 CAT catalase
960 CD44 CD44 molecule (IN blood group)
1636 ACE angiotensin I converting enzyme
2629 GBA1 glucosylceramidase beta 1
2877 GPX2 glutathione peroxidase 2
3032 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
3098 HK1 hexokinase 1
3931 LCAT lecithin-cholesterol acyltransferase
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
361272 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
43689 CG1544 uncharacterized protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
494076 dhtkd1 dehydrogenase E1 and transketolase domain containing 1
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
403360 dhtkd1.L dehydrogenase E1 and transketolase domain containing 1 L homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
179674 ogdh-2 Transketolase-like pyrimidine-binding domain-containing protein;putative 2-oxoglutarate dehydrogenase E1 component DHKTD1 homolog, mitochondrial
Related Glycoprotein
About Release Notes Help Feedback
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

Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International

GlyCosmos Portal v4.0.0

Last updated: August 19, 2024