Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
275 | AMT | aminomethyltransferase | |
2653 | GCSH | glycine cleavage system protein H | |
2731 | GLDC | glycine decarboxylase | |
4245 | MGAT1 | alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | |
7357 | UGCG | UDP-glucose ceramide glucosyltransferase | |
27087 | B3GAT1 | beta-1,3-glucuronyltransferase 1 | |
132158 | GLYCTK | glycerate kinase |
UniProt ID | Protein Name | Source |
---|---|---|
P23434 | Glycine cleavage system H protein, mitochondrial | |
P26572 | Alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | |
Q9P2W7 | Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0001298 | Encephalopathy |
HP:0000752 | Hyperactivity |
HP:0002154 | Hyperglycinemia |
HP:0001254 | Lethargy |
HP:0100247 | Recurrent singultus |
HP:0001250 | Seizure |
HP:0001347 | Hyperreflexia |
HP:0000718 | Aggressive behavior |
HP:0001274 | Agenesis of corpus callosum |
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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