Charcot-Marie-Tooth disease dominant intermediate F

Summary
Synonym
  • CMTDIF
  • autosomal dominant intermediate Charcot-Marie-Tooth disease type F
Definition
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28.
Super Class
Charcot-Marie-Tooth disease intermediate type autosomal dominant disease
External Links
Disease Ontology
DOID:0110206
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying entries 21 - 29 of 29 in total
Gene ID Gene Symbol Description Source
9517 SPTLC2 serine palmitoyltransferase long chain base subunit 2
9896 FIG4 FIG4 phosphoinositide 5-phosphatase
10558 SPTLC1 serine palmitoyltransferase long chain base subunit 1
10855 HPSE heparanase
23175 LPIN1 lipin 1
23600 AMACR alpha-methylacyl-CoA racemase
27036 SIGLEC7 sialic acid binding Ig like lectin 7
51196 PLCE1 phospholipase C epsilon 1
84649 DGAT2 diacylglycerol O-acyltransferase 2
Related Glycoprotein
Displaying entry 21 - 21 of 21 in total
UniProt ID Protein Name Source
Q9Y286 Sialic acid-binding Ig-like lectin 7

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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: August 19, 2024