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:0060261 | congenital ptosis | |
DOID:0060305 | megalocornea | |
DOID:0060823 | syndromic X-linked intellectual disability 94 | |
DOID:0070247 | autosomal dominant Emery-Dreifuss muscular dystrophy 2 | |
DOID:0080092 | myofibrillar myopathy 1 | |
DOID:0080094 | myofibrillar myopathy 3 | |
DOID:0110213 | isolated cleft palate | |
DOID:0110273 | autosomal dominant limb-girdle muscular dystrophy | |
DOID:0110274 | autosomal recessive limb-girdle muscular dystrophy | |
DOID:0110275 | autosomal recessive limb-girdle muscular dystrophy type 2A |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000028 | Cryptorchidism |
HP:0000054 | Micropenis |
HP:0000158 | Macroglossia |
HP:0000175 | Cleft palate |
HP:0000218 | High palate |
HP:0000238 | Hydrocephalus |
HP:0000252 | Microcephaly |
HP:0000407 | Sensorineural hearing impairment |
HP:0000467 | Neck muscle weakness |
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 |
---|---|---|---|
105823928 | PROCO00286 | ||
851504 | SGD:S000002213 | ||
109060948 | CYPCA144445 | ||
109065924 | CYPCA144445 | ||
103750182 | NANGA14017 | ||
116449609 | CORMO01659 | ||
103265510 | CARSF09751 |
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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