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:1612 | breast cancer | |
DOID:182 | calcinosis | |
DOID:1826 | epilepsy | |
DOID:2340 | craniosynostosis | |
DOID:2485 | phosphorus metabolism disease | |
DOID:2975 | cystic kidney disease | |
DOID:3459 | breast carcinoma | |
DOID:397 | restrictive cardiomyopathy | |
DOID:539 | ophthalmoplegia | |
DOID:540 | strabismus |
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 |
---|---|---|---|
101049096 | SAIBB26801 | ||
111219025 | SERDU11114 | ||
108438210 | PYGNA22658 | ||
101975594 | ICTTR02690 | ||
103138938 | POEFO06567 | ||
102426182 | MYOLU06549 | ||
117016050 | RHIFE23975 | ||
100230623 | TAEGU12543 | ||
103245365 | CHLSB07647 | ||
108533355 | RHIBE04113 |
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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