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:0003327 | Axial muscle weakness |
HP:0003388 | Easy fatigability |
HP:0003391 | Gowers sign |
HP:0003394 | Muscle spasm |
HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
HP:0003457 | EMG abnormality |
HP:0003473 | Fatigable weakness |
HP:0003546 | Exercise intolerance |
HP:0003549 | Abnormality of connective tissue |
HP:0003551 | Difficulty climbing stairs |
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 |
---|---|---|---|
103227639 | CHLSB10361 | ||
108526985 | RHIBE18890 | ||
104667304 | RHIRO13974 | ||
100583111 | NOMLE29513 | ||
114591493 | PODMU13848 | ||
107588415 | SINGR42925 | ||
116816499 | CHEAB22838 | ||
105311242 | PTEVA16189 | ||
115043662 | ECHNA04773 | ||
115388098 | SALFA35913 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
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