phosphatidylinositol glycan anchor biosynthesis class P
| UniProt | Protein Name |
|---|---|
| P57054 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| GPI anchor biosynthetic process | ||
| GPI anchor biosynthetic process | ||
| GPI anchor biosynthetic process | ||
| GPI anchor biosynthetic process |
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| phosphatidylinositol N-acetylglucosaminyltransferase activity |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0080283 | developmental and epileptic encephalopathy 55 |
| 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 |
|---|---|
| OMIM:617599 |
|
| ORPHA:1934 |
|
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: April 6, 2026