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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 21 - 30 of 65 in total
Gene ID Gene Symbol Description Source
2720 GLB1 galactosidase beta 1
3339 HSPG2 heparan sulfate proteoglycan 2
3418 IDH2 isocitrate dehydrogenase (NADP(+)) 2
3612 IMPA1 inositol monophosphatase 1
3633 INPP5B inositol polyphosphate-5-phosphatase B
3958 LGALS3 galectin 3
4153 MBL2 mannose binding lectin 2
5286 PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
5373 PMM2 phosphomannomutase 2
5553 PRG2 proteoglycan 2, pro eosinophil major basic protein
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