Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
Resources Genes Glycoproteins Lectins Glycolipids Glycans Pathways Diseases Organisms
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Other Information
Release Statistics Download
Tools
SugarDrawer GlycanBuilder Glycan Converters GlycoMaple GlycomeAtlas LM-GlycomeAtlas GALAXY MCAW GlycoSim GRable
Search Tools
Cross Search Glycan Search Publication Search Programmatic Access
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 1 - 10 of 65 in total
Gene ID Gene Symbol Description Source
43 ACHE acetylcholinesterase (Yt blood group)
142 PARP1 poly(ADP-ribose) polymerase 1
176 ACAN aggrecan
178 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
239 ALOX12 arachidonate 12-lipoxygenase, 12S type
250 ALPP alkaline phosphatase, placental
353 APRT adenine phosphoribosyltransferase
501 ALDH7A1 aldehyde dehydrogenase 7 family member A1
960 CD44 CD44 molecule (IN blood group)
1119 CHKA choline kinase alpha
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
About Release Notes Help Feedback

Click here to visit the beta site.

International Collaboration

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

Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International

GlyCosmos Portal v4.0.0

Last updated: August 19, 2024