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:0000007 | Autosomal recessive inheritance |
HP:0000054 | Micropenis |
HP:0000070 | Ureterocele |
HP:0000110 | Renal dysplasia |
HP:0000175 | Cleft palate |
HP:0000252 | Microcephaly |
HP:0000340 | Sloping forehead |
HP:0000463 | Anteverted nares |
HP:0000486 | Strabismus |
HP:0000729 | Autistic behavior |
Disease ID | Disease Name |
---|---|
ORPHA:1934 |
|
OMIM:617599 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
112911376 | VULVU37639 | ||
101081568 | FELCA22562 | ||
118894720 | BALMU18634 | ||
100675604 | LOXAF05269 | ||
100630875 | HORSE24693 | ||
100154885 | PIGXX06133 | ||
767951 | BOVIN15592 | ||
102174604 | CAPHI12793 | ||
56176 | MGI:1860433 | MOUSE18049 | |
288238 | RGD:1307205 | RATNO03913 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024