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:0110096 | short-rib thoracic dysplasia 14 with polydactyly | |
DOID:0110213 | isolated cleft palate | |
DOID:10283 | prostate cancer | |
DOID:10286 | prostate carcinoma | |
DOID:1059 | intellectual disability | |
DOID:10907 | microcephaly | |
DOID:11832 | visual epilepsy | |
DOID:13515 | tuberous sclerosis | |
DOID:14250 | Down syndrome | |
DOID:14323 | Marfan syndrome |
HPO ID | HPO Term |
---|---|
HP:0200134 | Epileptic encephalopathy |
Disease ID | Disease Name |
---|---|
ORPHA:1934 |
|
OMIM:617599 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
115601652 | STRHB00201 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024