GO Term | Evidence Code | PMID |
---|---|---|
gluconeogenesis |
GO Term | Evidence Code | PMID |
---|---|---|
protein homodimerization activity | ||
triose-phosphate isomerase activity | ||
ubiquitin protein ligase binding | ||
methylglyoxal synthase activity | ||
protein binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:0014667 | disease of metabolism | |
DOID:0050486 | exanthem | |
DOID:0050635 | alternating hemiplegia of childhood | |
DOID:0050700 | cardiomyopathy | |
DOID:0050757 | deafness-dystonia-optic neuronopathy syndrome | |
DOID:0050865 | tongue squamous cell carcinoma | |
DOID:0050884 | triosephosphate isomerase deficiency | |
DOID:0060041 | autism spectrum disorder | |
DOID:0080199 | colorectal carcinoma | |
DOID:0080326 | familial hypertrophic cardiomyopathy |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000543 | Optic disc pallor |
HP:0000762 | Decreased nerve conduction velocity |
HP:0000952 | Jaundice |
HP:0001081 | Cholelithiasis |
HP:0001082 | Cholecystitis |
HP:0001252 | Hypotonia |
HP:0001257 | Spasticity |
HP:0001263 | Global developmental delay |
HP:0001265 | Hyporeflexia |
Disease ID | Disease Name |
---|---|
ORPHA:868 |
|
OMIM:615512 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
113892377 | BOBOX41121 | ||
100949576 | OTOGA10353 | ||
101068825 | TAKRU47115 | ||
115246463 | TAKRU47115 | ||
110213792 | PHACI06799 | ||
101954953 | ICTTR09729 | ||
118315464 | SCOMX15935 | ||
117028939 | RHIFE09001 | ||
103218483 | CHLSB01884 | ||
100593490 | NOMLE22633 |
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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