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 |
DO ID | Disease Name | Source |
---|---|---|
DOID:13250 | diarrhea | |
DOID:0060249 | scoliosis | |
DOID:0060284 | paroxysmal nocturnal hemoglobinuria | |
DOID:0080140 | multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
DOID:10293 | monocular esotropia | |
DOID:10575 | calcium metabolism disease | |
DOID:11476 | osteoporosis | |
DOID:11771 | spontaneous ocular nystagmus | |
DOID:11832 | visual epilepsy | |
DOID:12678 | hypercalcemia |
HPO ID | HPO Term |
---|---|
HP:0005280 | Depressed nasal bridge |
HP:0006480 | Premature loss of teeth |
HP:0006961 | Jerky head movements |
HP:0008676 | Congenital megaureter |
HP:0009824 | Upper limb undergrowth |
HP:0010536 | Central sleep apnea |
HP:0010804 | Tented upper lip vermilion |
HP:0010818 | Generalized tonic seizure |
HP:0010841 | Multifocal epileptiform discharges |
HP:0010850 | EEG with spike-wave complexes |
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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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