UniProt | Protein Name |
---|---|
A0A140VJM1 |
|
A4D126 |
|
GO Term | Evidence Code | PMID |
---|---|---|
isoprenoid biosynthetic process | ||
axon guidance | ||
protein O-linked mannosylation |
GO Term | Evidence Code | PMID |
---|---|---|
D-ribitol-5-phosphate cytidylyltransferase activity | ||
protein homodimerization activity | ||
cytidylyltransferase activity |
DO ID | Disease Name | Source |
---|---|---|
DOID:0050387 | nonpapillary renal cell carcinoma | |
DOID:0050453 | lissencephaly | |
DOID:0050557 | congenital muscular dystrophy | |
DOID:0050559 | Fukuyama congenital muscular dystrophy | |
DOID:0050560 | Walker-Warburg syndrome | |
DOID:0050588 | muscular dystrophy-dystroglycanopathy type B1 | |
DOID:0050777 | Joubert syndrome | |
DOID:0060249 | scoliosis | |
DOID:0060255 | rippling muscle disease 2 | |
DOID:0060270 | pontocerebellar hypoplasia type 2D |
HPO ID | HPO Term |
---|---|
HP:0000358 | Posteriorly rotated ears |
HP:0000369 | Low-set ears |
HP:0000411 | Protruding ear |
HP:0000478 | Abnormality of the eye |
HP:0000482 | Microcornea |
HP:0000486 | Strabismus |
HP:0000490 | Deeply set eye |
HP:0000501 | Glaucoma |
HP:0000505 | Visual impairment |
HP:0000518 | Cataract |
Disease ID | Disease Name |
---|---|
ORPHA:370980 |
|
ORPHA:352479 |
|
OMIM:616052 |
|
ORPHA:899 |
|
OMIM:614643 |
|
ORPHA:588 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
117012507 | RHIFE26792 | ||
114607101 | PODMU26666 | ||
105822436 | PROCO10857 | ||
103258165 | CARSF01841 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024