Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
34 | ACADM | acyl-CoA dehydrogenase medium chain | |
1374 | CPT1A | carnitine palmitoyltransferase 1A | |
1376 | CPT2 | carnitine palmitoyltransferase 2 | |
3295 | HSD17B4 | hydroxysteroid 17-beta dehydrogenase 4 | |
5213 | PFKM | phosphofructokinase, muscle | |
5224 | PGAM2 | phosphoglycerate mutase 2 |
HPO ID | HPO Term |
---|---|
HP:0001639 | Hypertrophic cardiomyopathy |
HP:0003202 | Skeletal muscle atrophy |
HP:0001254 | Lethargy |
HP:0011675 | Arrhythmia |
HP:0001947 | Renal tubular acidosis |
HP:0001250 | Seizure |
HP:0002240 | Hepatomegaly |
HP:0001315 | Reduced tendon reflexes |
HP:0007185 | Loss of consciousness |
HP:0001939 | Abnormality of metabolism/homeostasis |
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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