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Standards Ontologies Notations
facioscapulohumeral muscular dystrophy

Summary
Synonym
  • Landouzy Dejerine muscular dystrophy
  • Landouzy-Dejerine muscular dystrophy
  • Muscular dystrophy, Landouzy-Dejerine
Super Class
muscular dystrophy
External Links
Disease Ontology
DOID:11727
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 31 - 40 of 65 in total
Gene ID Gene Symbol Description Source
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
5837 PYGM glycogen phosphorylase, muscle associated
6383 SDC2 syndecan 2
6476 SI sucrase-isomaltase
6484 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4
6519 SLC3A1 solute carrier family 3 member 1
8813 DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic
8818 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory
8867 SYNJ1 synaptojanin 1
8871 SYNJ2 synaptojanin 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
16795 Large1 LARGE xylosyl- and glucuronyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
361368 Large1 LARGE xylosyl- and glucuronyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
446213 large1 LARGE xylosyl- and glucuronyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
100498555 large1 LARGE xylosyl- and glucuronyltransferase 1 Xenopus tropicalis (tropical clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
187206 lge-1 Glycosyltransferase-like protein LARGE
Related Glycoprotein
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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