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:0003327 | Axial muscle weakness |
HP:0003388 | Easy fatigability |
HP:0003391 | Gowers sign |
HP:0003394 | Muscle spasm |
HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
HP:0003457 | EMG abnormality |
HP:0003473 | Fatigable weakness |
HP:0003546 | Exercise intolerance |
HP:0003549 | Abnormality of connective tissue |
HP:0003551 | Difficulty climbing stairs |
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 |
---|---|---|---|
100760573 | CRIGR07385 | ||
331026 | MGI:2660880 | MOUSE61930 | |
363145 | RGD:1560458 | ||
100735495 | CAVPO04827 | ||
101578564 | OCTDE02644 | ||
101716745 | HETGA06531 | ||
100028039 | MONDO30686 | ||
100566017 | ANOCA03420 | ||
114024188 | VOMUR13929 | ||
100957489 | OTOGA02941 |
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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