UniProt | Protein Name |
---|---|
Q9NUD9 |
|
GO Term | Evidence Code | PMID |
---|---|---|
GPI anchor biosynthetic process | ||
preassembly of GPI anchor in ER membrane |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum membrane | ||
membrane | ||
mannosyltransferase complex |
GO Term | Evidence Code | PMID |
---|---|---|
glycolipid mannosyltransferase activity | ||
alpha-1,6-mannosyltransferase activity | ||
mannosyltransferase activity | ||
protein binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:1826 | epilepsy | |
DOID:2340 | craniosynostosis | |
DOID:308 | early myoclonic encephalopathy | |
DOID:3535 | Unverricht-Lundborg syndrome | |
DOID:529 | blepharospasm | |
DOID:758 | situs inversus | |
DOID:8455 | pyridoxine deficiency anemia | |
DOID:8927 | learning disability | |
DOID:9834 | hyperopia | |
DOID:9840 | esotropia |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000126 | Hydronephrosis |
HP:0000175 | Cleft palate |
HP:0000193 | Bifid uvula |
HP:0000204 | Cleft upper lip |
HP:0000218 | High palate |
HP:0000219 | Thin upper lip vermilion |
HP:0000238 | Hydrocephalus |
HP:0000248 | Brachycephaly |
HP:0000272 | Malar flattening |
Disease ID | Disease Name |
---|---|
OMIM:239300 |
|
ORPHA:247262 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100358444 | RABIT04226 | ||
100770177 | CRIGR17829 | ||
230801 | MGI:2442480 | MOUSE40498 | |
366478 | RGD:1309526 | RATNO32298 | |
101588176 | OCTDE21406 | ||
101716849 | HETGA09690 | ||
100016190 | MONDO22816 | ||
100553470 | ANOCA13446 | ||
103666513 | URSMA05949 | ||
114045048 | VOMUR28092 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024