Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
1376 | CPT2 | carnitine palmitoyltransferase 2 | |
3030 | HADHA | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | |
3032 | HADHB | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | |
3033 | HADH | hydroxyacyl-CoA dehydrogenase | |
3939 | LDHA | lactate dehydrogenase A | |
5224 | PGAM2 | phosphoglycerate mutase 2 | |
5230 | PGK1 | phosphoglycerate kinase 1 | |
5837 | PYGM | glycogen phosphorylase, muscle associated | |
9663 | LPIN2 | lipin 2 | |
23175 | LPIN1 | lipin 1 |
HPO ID | HPO Term |
---|---|
HP:0003326 | Myalgia |
HP:0000007 | Autosomal recessive inheritance |
HP:0003621 | Juvenile onset |
HP:0001284 | Areflexia |
HP:0011463 | Childhood onset |
HP:0003236 | Elevated circulating creatine kinase concentration |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024