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: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 |
---|---|---|---|
117027331 | RHIFE02264 | ||
101233040 | TAEGU13644 | ||
103225312 | CHLSB09196 | ||
108518170 | RHIBE20572 | ||
100607268 | NOMLE22925 | ||
114601520 | PODMU31390 | ||
106839913 | EQUAS18478 | ||
116837999 | CHEAB02445 | ||
105290497 | PTEVA14164 | ||
115045284 | ECHNA27266 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024