UniProt | Protein Name |
---|---|
Q06210 |
|
GO Term | Evidence Code | PMID |
---|---|---|
protein N-linked glycosylation | ||
circadian regulation of gene expression | ||
glutamine metabolic process | ||
energy reserve metabolic process |
|
|
UDP-N-acetylglucosamine biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
cytosol |
|
|
extracellular exosome |
GO Term | Evidence Code | PMID |
---|---|---|
carbohydrate derivative binding | ||
glutamine-fructose-6-phosphate transaminase (isomerizing) activity |
DO ID | Disease Name | Source |
---|---|---|
DOID:0111338 | isolated elevated serum creatine phosphokinase levels | |
DOID:1029 | familial periodic paralysis | |
DOID:10534 | stomach cancer | |
DOID:10952 | nephritis | |
DOID:1168 | familial hyperlipidemia | |
DOID:11836 | clubfoot | |
DOID:12506 | Bell's palsy | |
DOID:1319 | brain cancer | |
DOID:13934 | facial paralysis | |
DOID:1425 | pyoureter |
HPO ID | HPO Term |
---|---|
HP:0003828 | Variable expressivity |
HP:0006380 | Knee flexion contracture |
HP:0007126 | Proximal amyotrophy |
HP:0008180 | Mildly elevated creatine kinase |
HP:0009028 | Generalized weakness of limb muscles |
HP:0009046 | Difficulty running |
HP:0010628 | Facial palsy |
HP:0011463 | Childhood onset |
HP:0011968 | Feeding difficulties |
HP:0100301 | Muscle fiber tubular inclusions |
Disease ID | Disease Name |
---|---|
OMIM:610542 |
|
OMIM:608931 |
|
ORPHA:353327 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
174778 | WB:WBGene00008546 | ||
178067 | WB:WBGene00009035 | ||
43373 | FB:FBgn0039580 | ||
3354921 | FB:FBgn0287209 | ||
103190263 | CALMI43365 | ||
102345618 | LATCH18907 | ||
567861 | ZFIN:ZDB-GENE-070423-1 | DANRE43391 | |
103023534 | ASTMX17560 | ||
108265349 | ICTPU29202 | ||
106585600 | SALSA89305 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024