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:11111 | hydronephrosis | |
DOID:11832 | visual epilepsy | |
DOID:12215 | oligohydramnios | |
DOID:1270 | hereditary hemorrhagic telangiectasia | |
DOID:1271 | capillary disease | |
DOID:1272 | telangiectasis | |
DOID:13353 | diffuse interstitial keratitis | |
DOID:13515 | tuberous sclerosis | |
DOID:14323 | Marfan syndrome | |
DOID:1682 | congenital heart disease |
HPO ID | HPO Term |
---|---|
HP:0000378 | Cupped ear |
HP:0000391 | Thickened helices |
HP:0000407 | Sensorineural hearing impairment |
HP:0000414 | Bulbous nose |
HP:0000426 | Prominent nasal bridge |
HP:0000431 | Wide nasal bridge |
HP:0000455 | Broad nasal tip |
HP:0000470 | Short neck |
HP:0000540 | Hypermetropia |
HP:0000565 | Esotropia |
Disease ID | Disease Name |
---|---|
OMIM:239300 |
|
ORPHA:247262 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
115396743 | SALFA31180 | ||
113488393 | ATHCN21711 | ||
105811729 | PROCO21959 | ||
852289 | SGD:S000000208 | ||
103737120 | NANGA22694 | ||
116455015 | CORMO11379 | ||
103267530 | CARSF27595 | ||
115616198 | STRHB12638 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024