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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 31 - 40 of 65 in total
Gene ID Gene Symbol Description Source
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
5837 PYGM glycogen phosphorylase, muscle associated
6383 SDC2 syndecan 2
6476 SI sucrase-isomaltase
6484 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4
6519 SLC3A1 solute carrier family 3 member 1
8813 DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic
8818 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory
8867 SYNJ1 synaptojanin 1
8871 SYNJ2 synaptojanin 2
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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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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