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:0110276 | autosomal recessive limb-girdle muscular dystrophy type 2B | |
DOID:0110277 | autosomal recessive limb-girdle muscular dystrophy type 2C | |
DOID:0110278 | autosomal recessive limb-girdle muscular dystrophy type 2D | |
DOID:0110279 | autosomal recessive limb-girdle muscular dystrophy type 2E | |
DOID:0110280 | autosomal recessive limb-girdle muscular dystrophy type 2F | |
DOID:0110281 | autosomal recessive limb-girdle muscular dystrophy type 2G | |
DOID:0110282 | autosomal recessive limb-girdle muscular dystrophy type 2H | |
DOID:0110283 | autosomal recessive limb-girdle muscular dystrophy type 2J | |
DOID:0110284 | autosomal recessive limb-girdle muscular dystrophy type 2L | |
DOID:0110285 | autosomal recessive limb-girdle muscular dystrophy type 2Q |
HPO ID | HPO Term |
---|---|
HP:0004637 | Decreased cervical spine mobility |
HP:0006380 | Knee flexion contracture |
HP:0006698 | Dilatation of the ventricular cavity |
HP:0006899 | Fusion of the cerebellar hemispheres |
HP:0006955 | Olivopontocerebellar hypoplasia |
HP:0007015 | Poor gross motor coordination |
HP:0007204 | Diffuse white matter abnormalities |
HP:0007256 | Abnormal pyramidal sign |
HP:0007260 | Type II lissencephaly |
HP:0007340 | Lower limb 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 |
---|---|---|---|
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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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024