UniProt | Protein Name |
---|---|
P57054 |
|
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum | ||
endoplasmic reticulum membrane | ||
glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex |
GO Term | Evidence Code | PMID |
---|---|---|
phosphatidylinositol N-acetylglucosaminyltransferase activity | ||
protein binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:0050453 | lissencephaly | |
DOID:0050562 | West syndrome | |
DOID:0050709 | early infantile epileptic encephalopathy | |
DOID:0050777 | Joubert syndrome | |
DOID:0050841 | focal hand dystonia | |
DOID:0060270 | pontocerebellar hypoplasia type 2D | |
DOID:0060276 | pontocerebellar hypoplasia type 7 | |
DOID:0060277 | pontocerebellar hypoplasia type 8 | |
DOID:0060278 | pontocerebellar hypoplasia type 9 | |
DOID:0060321 | umbilical hernia |
HPO ID | HPO Term |
---|---|
HP:0010851 | EEG with burst suppression |
HP:0011169 | Generalized clonic seizure |
HP:0011190 | Uni- and bilateral multifocal epileptiform discharges |
HP:0011968 | Feeding difficulties |
HP:0012448 | Delayed myelination |
HP:0012469 | Infantile spasms |
HP:0012554 | Absent thumbnail |
HP:0100660 | Dyskinesia |
HP:0100704 | Cerebral visual impairment |
HP:0100716 | Self-injurious behavior |
Disease ID | Disease Name |
---|---|
ORPHA:1934 |
|
OMIM:617599 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
36805057 | WB:WBGene00303002 | ||
43168 | FB:FBgn0039405 | ||
103171880 | CALMI46258 | ||
102345315 | LATCH11850 | ||
325316 | ZFIN:ZDB-GENE-030131-4041 | DANRE00893 | |
103021711 | ASTMX03735 | ||
108276905 | ICTPU09004 | ||
113581656 | ELEEL27893 | ||
105023992 | ESOLU21302 | ||
115154228 | SALTR103573 |
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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