autosomal dominant limb-girdle muscular dystrophy type 1

Summary
Synonym
  • LGMD1D
  • autosomal dominant limb-girdle muscular dystrophy type 1E
  • muscular dystrophy limb-girdle type 1D
  • muscular dystrophy limb-girdle type 1E
Definition
An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36.
Super Class
autosomal dominant limb-girdle muscular dystrophy
External Links
Disease Ontology
DOID:0110305
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
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

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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