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Standards Ontologies Notations
muscular dystrophy

Summary
Definition
A myopathy is characterized by progressive skeletal muscle weakness degeneration.
Super Class
myopathy
External Links
Disease Ontology
DOID:9884
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 81 - 88 of 88 in total
Gene ID Gene Symbol Description Source
79147 FKRP fukutin related protein
84197 POMK protein O-mannose kinase
84892 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
120071 LARGE2 LARGE xylosyl- and glucuronyltransferase 2
124872 B4GALNT2 beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)
148738 HJV hemojuvelin BMP co-receptor
148789 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
729920 CRPPA CDP-L-ribitol pyrophosphorylase A
Displaying all 8 entries
Gene ID Gene Symbol Description Source
12833 Col6a1 collagen, type VI, alpha 1
21926 Tnf tumor necrosis factor
26903 Dysf dysferlin
68273 Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase
99011 Pomt1 protein-O-mannosyltransferase 1
217734 Pomt2 protein-O-mannosyltransferase 2
243853 Fkrp fukutin related protein
246179 Fktn fukutin
Displaying all 6 entries
Gene ID Gene Symbol Description Source
24835 Tnf tumor necrosis factor
84430 Pomt1 protein-O-mannosyltransferase 1
308390 Fkrp fukutin related protein
362520 Fktn fukutin
362567 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
688673 Pomt2 protein-O-mannosyltransferase 2
Displaying all 4 entries
Gene ID Gene Symbol Description Source
31024 tw twisted
36773 Dg Dystroglycan
37375 CG15651 uncharacterized protein
39297 rt rotated abdomen
Displaying all 5 entries
Gene ID Gene Symbol Description Source
563878 pomt2 protein-O-mannosyltransferase 2
569769 pomt1 protein-O-mannosyltransferase 1
571426 fkrp fukutin related protein
571876 pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
100006345 fktn fukutin
Displaying entry 11 - 11 of 11 in total
Gene ID Gene Symbol Description Source Organism
108699937 pomt1.S protein-O-mannosyltransferase 1 S homeolog Xenopus laevis (African clawed frog)
Displaying all 3 entries
Gene ID Gene Symbol Description Source
173469 T07D3.4 Fukutin;Nucleotidyltransferase family protein
188207 T07A5.1 Uncharacterized protein
189104 W02B3.4 Uncharacterized protein
Displaying all 4 entries
Gene ID Gene Symbol Description Source
851210 PMT2 dolichyl-phosphate-mannose-protein mannosyltransferase PMT2
853113 PMT6 dolichyl-phosphate-mannose-protein mannosyltransferase PMT6
853608 PMT4 dolichyl-phosphate-mannose-protein mannosyltransferase
854499 PMT3 dolichyl-phosphate-mannose-protein mannosyltransferase PMT3
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