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
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
3156 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase
3714 JAG2 jagged canonical Notch ligand 2
3908 LAMA2 laminin subunit alpha 2
29954 POMT2 protein O-mannosyltransferase 2
56983 POGLUT1 protein O-glucosyltransferase 1
64208 POPDC3 popeye domain cAMP effector 3
Displaying all 6 entries
Gene ID Gene Symbol Description Source
15357 Hmgcr 3-hydroxy-3-methylglutaryl-Coenzyme A reductase
16450 Jag2 jagged 2
16773 Lama2 laminin, alpha 2
78977 Popdc3 popeye domain containing 3
217734 Pomt2 protein-O-mannosyltransferase 2
224143 Poglut1 protein O-glucosyltransferase 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
25675 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase
288091 Poglut1 protein O-glucosyltransferase 1
688673 Pomt2 protein-O-mannosyltransferase 2
Displaying all 5 entries
Gene ID Gene Symbol Description Source
31024 tw twisted
37190 tn thin
42803 Hmgcr HMG Coenzyme A reductase
43275 Ser Serrate
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 3 entries
Gene ID Gene Symbol Description Source Organism
397750 hmgcr.L 3-hydroxy-3-methylglutaryl-CoA reductase L homeolog Xenopus laevis (African clawed frog)
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 1 entry
Gene ID Gene Symbol Description Source
172952 lam-3 Laminin subunit alpha lam-3
Displaying all 5 entries
Gene ID Gene Symbol Description Source
851171 HMG2 hydroxymethylglutaryl-CoA reductase (NADPH) HMG2
851210 PMT2 dolichyl-phosphate-mannose-protein mannosyltransferase PMT2
853113 PMT6 dolichyl-phosphate-mannose-protein mannosyltransferase PMT6
854499 PMT3 dolichyl-phosphate-mannose-protein mannosyltransferase PMT3
854900 HMG1 hydroxymethylglutaryl-CoA reductase (NADPH) HMG1

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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: December 9, 2024