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:0050841 | focal hand dystonia | |
DOID:0060216 | Cogan syndrome | |
DOID:0060249 | scoliosis | |
DOID:0060823 | syndromic X-linked intellectual disability 94 | |
DOID:0070433 | hyperphosphatasia with impaired intellectual development syndrome 1 | |
DOID:10003 | sensorineural hearing loss | |
DOID:10293 | monocular esotropia | |
DOID:10487 | Hirschsprung's disease | |
DOID:1059 | intellectual disability | |
DOID:11014 | anorectal stricture |
HPO ID | HPO Term |
---|---|
HP:0000582 | Upslanted palpebral fissure |
HP:0000594 | Shallow anterior chamber |
HP:0000637 | Long palpebral fissure |
HP:0000657 | Oculomotor apraxia |
HP:0000729 | Autistic behavior |
HP:0000750 | Delayed speech and language development |
HP:0000767 | Pectus excavatum |
HP:0001009 | Telangiectasia |
HP:0001090 | Abnormally large globe |
HP:0001182 | Tapered finger |
Disease ID | Disease Name |
---|---|
OMIM:239300 |
|
ORPHA:247262 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
113878426 | BOBOX38530 | ||
100946453 | OTOGA03575 | ||
101068300 | TAKRU46931 | ||
102021833 | CHILA13417 | ||
105708609 | AOTNA06429 | ||
110206134 | PHACI17289 | ||
101037423 | SAIBB02568 | ||
101956995 | ICTTR08880 | ||
101593469 | JACJA23215 | ||
102439148 | MYOLU10505 |
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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