UniProt | Protein Name |
---|---|
Q969N2 |
|
GO Term | Evidence Code | PMID |
---|---|---|
neuron differentiation | ||
neuron apoptotic process | ||
attachment of GPI anchor to protein |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum membrane | ||
membrane | ||
GPI-anchor transamidase complex | ||
cytoplasmic vesicle |
GO Term | Evidence Code | PMID |
---|---|---|
protein binding |
HPO ID | HPO Term |
---|---|
HP:0002094 | Dyspnea |
HP:0002101 | Abnormal lung lobation |
HP:0002121 | Generalized non-motor (absence) seizure |
HP:0002123 | Generalized myoclonic seizure |
HP:0002150 | Hypercalciuria |
HP:0002155 | Hypertriglyceridemia |
HP:0002263 | Exaggerated cupid's bow |
HP:0002283 | Global brain atrophy |
HP:0002315 | Headache |
HP:0002376 | Developmental regression |
Disease ID | Disease Name |
---|---|
OMIM:615398 |
|
ORPHA:369837 |
|
OMIM:615399 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
113013141 | ASTCA21461 | ||
115585201 | SPAAU52704 | ||
494735 | Xenbase:XB-GENE-1014756 | ||
549869 | Xenbase:XB-GENE-1014749 | ||
101931969 | CHRPI04858 | ||
113434409 | PSETE05116 | ||
100085380 | ORNAN25492 | ||
100930569 | SARHA01997 | ||
100408743 | CALJA32637 | ||
105588473 | CERAT30270 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024