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:422 | congenital structural myopathy | |
DOID:423 | myopathy | |
DOID:439 | neuromuscular junction disease | |
DOID:440 | neuromuscular disease | |
DOID:4480 | achondroplasia | |
DOID:4766 | embryoma | |
DOID:4905 | pancreatic carcinoma | |
DOID:539 | ophthalmoplegia | |
DOID:540 | strabismus | |
DOID:5517 | stomach carcinoma |
HPO ID | HPO Term |
---|---|
HP:0002355 | Difficulty walking |
HP:0002359 | Frequent falls |
HP:0002421 | Poor head control |
HP:0002460 | Distal muscle weakness |
HP:0002515 | Waddling gait |
HP:0002650 | Scoliosis |
HP:0002747 | Respiratory insufficiency due to muscle weakness |
HP:0002804 | Arthrogryposis multiplex congenita |
HP:0002938 | Lumbar hyperlordosis |
HP:0003198 | Myopathy |
Disease ID | Disease Name |
---|---|
OMIM:610542 |
|
OMIM:608931 |
|
ORPHA:353327 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
113445846 | PSETE18867 | ||
100550931 | MELGA07700 | ||
100073443 | ORNAN22383 | ||
100925565 | SARHA06733 | ||
103111924 | ERIEU11908 | ||
100385280 | CALJA10075 | ||
102131011 | MACFA07237 | ||
574376 | MACMU08518 | ||
105465201 | MACNE01127 | ||
101012191 | PAPAN09031 |
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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