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:0110286 | obsolete autosomal recessive limb-girdle muscular dystrophy type 2R | |
DOID:0110287 | autosomal recessive limb-girdle muscular dystrophy type 2S | |
DOID:0110289 | autosomal recessive limb-girdle muscular dystrophy type 2Y | |
DOID:0110292 | autosomal recessive limb-girdle muscular dystrophy type 2O | |
DOID:0110293 | autosomal recessive limb-girdle muscular dystrophy type 2P | |
DOID:0112377 | muscular dystrophy-dystroglycanopathy type B14 | |
DOID:10003 | sensorineural hearing loss | |
DOID:0110294 | autosomal recessive limb-girdle muscular dystrophy type 2T | |
DOID:0110295 | autosomal recessive limb-girdle muscular dystrophy type 2U | |
DOID:0110296 | autosomal recessive limb-girdle muscular dystrophy type 2M |
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 |
---|---|---|---|
105573696 | CERAT32380 | ||
705454 | MACMU29533 | ||
105480447 | MACNE07039 | ||
101018643 | PAPAN24657 | ||
105540343 | MANLE07261 | ||
101142350 | GORGO29480 | ||
100986111 | PANPA27885 | ||
460378 | PANTR31162 | ||
100436355 | PONAB25882 | ||
100856660 | CANLF07498 |
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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