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:0110297 | autosomal recessive limb-girdle muscular dystrophy type 2K | |
DOID:0110298 | autosomal recessive limb-girdle muscular dystrophy type 2N | |
DOID:0110299 | autosomal recessive limb-girdle muscular dystrophy type 2I | |
DOID:0110300 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1A | |
DOID:0110301 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1B | |
DOID:0110302 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1C | |
DOID:0110303 | autosomal dominant limb-girdle muscular dystrophy type 1H | |
DOID:0110304 | autosomal dominant limb-girdle muscular dystrophy type 2 | |
DOID:0110305 | autosomal dominant limb-girdle muscular dystrophy type 1 | |
DOID:0110306 | autosomal dominant limb-girdle muscular dystrophy type 3 |
HPO ID | HPO Term |
---|---|
HP:0002119 | Ventriculomegaly |
HP:0002120 | Cerebral cortical atrophy |
HP:0002126 | Polymicrogyria |
HP:0002167 | Abnormality of speech or vocalization |
HP:0002169 | Clonus |
HP:0002198 | Dilated fourth ventricle |
HP:0002282 | Gray matter heterotopia |
HP:0002350 | Cerebellar cyst |
HP:0002353 | EEG abnormality |
HP:0002355 | Difficulty walking |
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