Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
37 | ACADVL | acyl-CoA dehydrogenase very long chain | |
1374 | CPT1A | carnitine palmitoyltransferase 1A | |
1376 | CPT2 | carnitine palmitoyltransferase 2 | |
1962 | EHHADH | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | |
2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
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 | |
5728 | PTEN | phosphatase and tensin homolog | |
79947 | DHDDS | dehydrodolichyl diphosphate synthase subunit |
HPO ID | HPO Term |
---|---|
HP:0000580 | Pigmentary retinopathy |
HP:0000829 | Hypoparathyroidism |
HP:0001250 | Seizure |
HP:0001252 | Hypotonia |
HP:0001254 | Lethargy |
HP:0001259 | Coma |
HP:0001270 | Motor delay |
HP:0001284 | Areflexia |
HP:0001324 | Muscle weakness |
HP:0001396 | Cholestasis |
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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