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:0000478 | Abnormality of the eye |
HP:0000485 | Megalocornea |
HP:0000486 | Strabismus |
HP:0000501 | Glaucoma |
HP:0000505 | Visual impairment |
HP:0000508 | Ptosis |
HP:0000518 | Cataract |
HP:0000525 | Abnormality iris morphology |
HP:0000541 | Retinal detachment |
HP:0000545 | Myopia |
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 |
---|---|---|---|
100689938 | ORENI59621 | ||
115583970 | SPAAU41798 | ||
447346 | Xenbase:XB-GENE-922662 | ||
100037186 | Xenbase:XB-GENE-6255238 | ||
493267 | Xenbase:XB-GENE-922650 | ||
101934259 | CHRPI24410 | ||
109318261 | CROPO25358 | ||
113454477 | PSETE02832 | ||
103816951 | SERCA11185 | ||
100397938 | CALJA11912 |
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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