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Standards Ontologies Notations
Charcot-Marie-Tooth disease dominant intermediate G

Summary
Definition
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the NEFL gene on chromosome 8p21.
Super Class
Charcot-Marie-Tooth disease intermediate type autosomal dominant disease
Disease Ontology
DOID:0080294
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4747 NEFL neurofilament light chain
Displaying 1 entry
Gene ID Gene Symbol Description Source
18039 Nefl neurofilament, light polypeptide
Displaying 1 entry
Gene ID Gene Symbol Description Source
83613 Nefl neurofilament light chain
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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