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: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 |
---|---|---|---|
101174530 | ORYLA05428 | ||
100696205 | ORENI06087 | ||
735121 | Xenbase:XB-GENE-17343511 | ||
100380028 | Xenbase:XB-GENE-965986 | ||
101947779 | CHRPI15220 | ||
109318632 | CROPO25022 | ||
113437511 | PSETE08912 | ||
103167087 | ORNAN07719 | ||
100917159 | SARHA02789 | ||
105594922 | CERAT06271 |
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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