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:0009055 | Generalized limb muscle atrophy |
HP:0010628 | Facial palsy |
HP:0010864 | Intellectual disability, severe |
HP:0011102 | Ileal atresia |
HP:0011463 | Childhood onset |
HP:0011968 | Feeding difficulties |
HP:0012110 | Hypoplasia of the pons |
HP:0012443 | Abnormal brain morphology |
HP:0012695 | Decreased thalamic volume |
HP:0100022 | Abnormality of movement |
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