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Standards Ontologies Notations
autosomal recessive limb-girdle muscular dystrophy

Summary
Definition
A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance.
Super Class
autosomal recessive disease limb-girdle muscular dystrophy
External Links
Disease Ontology
DOID:0110274
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying entries 11 - 20 of 65 in total
Gene ID Gene Symbol Description Source
1120 CHKB choline kinase beta
1497 CTNS cystinosin, lysosomal cystine transporter
1605 DAG1 dystroglycan 1
1634 DCN decorin
1636 ACE angiotensin I converting enzyme
1800 DPEP1 dipeptidase 1
2023 ENO1 enolase 1
2218 FKTN fukutin
2548 GAA alpha glucosidase
2710 GK glycerol kinase
Displaying all 2 entries
Gene ID Gene Symbol Description Source
217734 Pomt2 protein-O-mannosyltransferase 2
224143 Poglut1 protein O-glucosyltransferase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
288091 Poglut1 protein O-glucosyltransferase 1
688673 Pomt2 protein-O-mannosyltransferase 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
31024 tw twisted
326122 rumi rumi
Displaying all 2 entries
Gene ID Gene Symbol Description Source
563878 pomt2 protein-O-mannosyltransferase 2
641495 poglut1 protein O-glucosyltransferase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
100490100 pomt2 protein-O-mannosyltransferase 2 Xenopus tropicalis (tropical clawed frog)
108698684 pomt2.L protein-O-mannosyltransferase 2 L homeolog Xenopus laevis (African clawed frog)
Displaying all 3 entries
Gene ID Gene Symbol Description Source
851210 PMT2 dolichyl-phosphate-mannose-protein mannosyltransferase PMT2
853113 PMT6 dolichyl-phosphate-mannose-protein mannosyltransferase PMT6
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