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Standards Ontologies Notations
muscular dystrophy-dystroglycanopathy

Summary
Synonym
  • MDDG
Definition
A congenital muscular dystrophy characterized by muscular dystrophy resulting from defective glycosylation of dystroglycan.
Super Class
congenital muscular dystrophy
Disease Ontology
DOID:0112374
ORDO
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
1605 DAG1 dystroglycan 1
10585 POMT1 protein O-mannosyltransferase 1
29925 GMPPB GDP-mannose pyrophosphorylase B
29954 POMT2 protein O-mannosyltransferase 2
Displaying all 3 entries
Gene ID Gene Symbol Description Source
13138 Dag1 dystroglycan 1
99011 Pomt1 protein-O-mannosyltransferase 1
217734 Pomt2 protein-O-mannosyltransferase 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
84430 Pomt1 protein-O-mannosyltransferase 1
688673 Pomt2 protein-O-mannosyltransferase 2
Displaying all 4 entries
Gene ID Gene Symbol Description Source
31024 tw twisted
36773 Dg Dystroglycan
39297 rt rotated abdomen
40599 Gmppb GDP-mannose pyrophosphorylase B
Displaying all 2 entries
Gene ID Gene Symbol Description Source
563878 pomt2 protein-O-mannosyltransferase 2
569769 pomt1 protein-O-mannosyltransferase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
448433 pomt1 protein-O-mannosyltransferase 1 Xenopus tropicalis (tropical clawed frog)
100490100 pomt2 protein-O-mannosyltransferase 2 Xenopus tropicalis (tropical clawed frog)
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
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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