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:0000708 | Atypical behavior |
HP:0002910 | Elevated circulating hepatic transaminase concentration |
HP:0001399 | Hepatic failure |
HP:0008279 | Transient hyperlipidemia |
HP:0001252 | Hypotonia |
HP:0001943 | Hypoglycemia |
HP:0012378 | Fatigue |
HP:0001645 | Sudden cardiac death |
HP:0004374 | Hemiplegia/hemiparesis |
HP:0001259 | Coma |
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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