Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
1636 | ACE | angiotensin I converting enzyme | |
1737 | DLAT | dihydrolipoamide S-acetyltransferase | |
1738 | DLD | dihydrolipoamide dehydrogenase | |
1892 | ECHS1 | enoyl-CoA hydratase, short chain 1 | |
4967 | OGDH | oxoglutarate dehydrogenase | |
5091 | PC | pyruvate carboxylase | |
5105 | PCK1 | phosphoenolpyruvate carboxykinase 1 | |
5106 | PCK2 | phosphoenolpyruvate carboxykinase 2, mitochondrial | |
5160 | PDHA1 | pyruvate dehydrogenase E1 subunit alpha 1 | |
5161 | PDHA2 | pyruvate dehydrogenase E1 subunit alpha 2 |
HPO ID | HPO Term |
---|---|
HP:0002151 | Increased circulating lactate concentration |
HP:0003577 | Congenital onset |
HP:0001252 | Hypotonia |
HP:0002415 | Leukodystrophy |
HP:0001249 | Intellectual disability |
HP:0003348 | Hyperalaninemia |
HP:0001943 | Hypoglycemia |
HP:0006970 | Periventricular leukomalacia |
HP:0002240 | Hepatomegaly |
HP:0000007 | Autosomal recessive inheritance |
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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