UniProt | Protein Name |
---|---|
Q9Y5P6 |
|
GO Term | Evidence Code | PMID |
---|---|---|
protein glycosylation | ||
GDP-mannose biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
mannose-1-phosphate guanylyltransferase (GTP) activity | ||
GTP binding | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:11723 | Duchenne muscular dystrophy | |
DOID:11724 | limb-girdle muscular dystrophy | |
DOID:11727 | facioscapulohumeral muscular dystrophy | |
DOID:11771 | spontaneous ocular nystagmus | |
DOID:11830 | myopia | |
DOID:11832 | visual epilepsy | |
DOID:11836 | clubfoot | |
DOID:11984 | hypertrophic cardiomyopathy | |
DOID:12215 | oligohydramnios | |
DOID:12270 | coloboma |
HPO ID | HPO Term |
---|---|
HP:0002540 | Inability to walk |
HP:0002650 | Scoliosis |
HP:0002827 | Hip dislocation |
HP:0002828 | Multiple joint contractures |
HP:0002878 | Respiratory failure |
HP:0002938 | Lumbar hyperlordosis |
HP:0003198 | Myopathy |
HP:0003200 | Ragged-red muscle fibers |
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0003325 | Limb-girdle muscle weakness |
Disease ID | Disease Name |
---|---|
ORPHA:363623 |
|
ORPHA:370968 |
|
ORPHA:370959 |
|
OMIM:615351 |
|
OMIM:615350 |
|
ORPHA:353327 |
|
ORPHA:588 |
|
OMIM:615352 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
112911432 | VULVU03917 | ||
123798672 | URSAM07433 | ||
101673791 | MUSPF09815 | ||
101086635 | FELCA04827 | ||
122214353 | PANLE23196 | ||
101318382 | TURTR07378 | ||
514161 | BOVIN17824 | ||
102178496 | CAPHI14717 | ||
101102764 | SHEEP08442 | ||
105994575 | DIPOR18777 |
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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