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:0009882 | Short distal phalanx of finger |
HP:0010804 | Tented upper lip vermilion |
HP:0010850 | EEG with spike-wave complexes |
HP:0010864 | Intellectual disability, severe |
HP:0011471 | Gastrostomy tube feeding in infancy |
HP:0011800 | Midface retrusion |
HP:0011968 | Feeding difficulties |
HP:0012210 | Abnormal renal morphology |
HP:0012448 | Delayed myelination |
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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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