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Standards Ontologies Notations
autosomal recessive limb-girdle muscular dystrophy type 2L

Summary
Synonym
  • LGMD2L
  • muscular dystrophy, limb-girdle, type 2L
Definition
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14.
Super Class
autosomal recessive limb-girdle muscular dystrophy
External Links
Disease Ontology
DOID:0110284
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
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 1 entry
Gene ID Gene Symbol Description Source
246179 Fktn fukutin
Displaying 1 entry
Gene ID Gene Symbol Description Source
362520 Fktn fukutin
Displaying 1 entry
Gene ID Gene Symbol Description Source
100006345 fktn fukutin
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
495324 fktn.S fukutin S homeolog Xenopus laevis (African clawed frog)
100124956 fktn fukutin Xenopus tropicalis (tropical clawed frog)
Displaying all 3 entries
Gene ID Gene Symbol Description Source
173469 T07D3.4 Fukutin;Nucleotidyltransferase family protein
188207 T07A5.1 Uncharacterized protein
189104 W02B3.4 Uncharacterized protein
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