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:0001531 | Failure to thrive in infancy |
HP:0001635 | Congestive heart failure |
HP:0001638 | Cardiomyopathy |
HP:0001653 | Mitral regurgitation |
HP:0001712 | Left ventricular hypertrophy |
HP:0001761 | Pes cavus |
HP:0001985 | Hypoketotic hypoglycemia |
HP:0002033 | Poor suck |
HP:0002093 | Respiratory insufficiency |
HP:0002359 | Frequent falls |
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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