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:0110881 | holoprosencephaly 1 | |
DOID:0111233 | congenital muscular dystrophy-dystroglycanopathy A14 | |
DOID:0111237 | congenital muscular dystrophy-dystroglycanopathy type A1 | |
DOID:0111338 | isolated elevated serum creatine phosphokinase levels | |
DOID:0111531 | bilateral optic nerve hypoplasia | |
DOID:0112374 | muscular dystrophy-dystroglycanopathy | |
DOID:1029 | familial periodic paralysis | |
DOID:10293 | monocular esotropia | |
DOID:10375 | strabismic amblyopia | |
DOID:10376 | amblyopia |
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 |
---|---|---|---|
101080238 | TAKRU20069 | ||
102015564 | CHILA22607 | ||
105727702 | AOTNA35725 | ||
110217035 | PHACI11820 | ||
101047504 | SAIBB27149 | ||
101969114 | ICTTR14799 | ||
101596642 | JACJA15670 | ||
118308814 | SCOMX26827 | ||
117036807 | RHIFE15945 | ||
101816657 | FICAL12803 |
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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