Charcot-Marie-Tooth disease type 1F

Summary
Synonym
  • CMT1F
  • Charcot-Marie-Tooth neuropathy type 1F
Definition
A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene.
Super Class
Charcot-Marie-Tooth disease type 1 autosomal dominant disease autosomal recessive disease
Disease Ontology
DOID:0110149
Mondo Disease Ontology
ORDO
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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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