facioscapulohumeral muscular dystrophy

Summary
Synonym
  • Landouzy Dejerine muscular dystrophy
  • Landouzy-Dejerine muscular dystrophy
  • Muscular dystrophy, Landouzy-Dejerine
Super Class
muscular dystrophy
Disease Ontology
DOID:11727
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
2195 FAT1 FAT atypical cadherin 1
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
11739 Slc25a4 solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4
14107 Fat1 FAT atypical cadherin 1
16795 Large1 LARGE xylosyl- and glucuronyltransferase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
85333 Slc25a4 solute carrier family 25 member 4
361368 Large1 LARGE xylosyl- and glucuronyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
40191 kug kugelei
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 all 2 entries
Gene ID Gene Symbol Description Source
175590 cdh-4 Cadherin-4
187206 lge-1 Glycosyltransferase-like protein LARGE

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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