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:0001631 | Atrial septal defect |
HP:0001643 | Patent ductus arteriosus |
HP:0001723 | Restrictive cardiomyopathy |
HP:0001878 | Hemolytic anemia |
HP:0002002 | Deep philtrum |
HP:0002014 | Diarrhea |
HP:0002020 | Gastroesophageal reflux |
HP:0002027 | Abdominal pain |
HP:0002059 | Cerebral atrophy |
HP:0002069 | Bilateral tonic-clonic seizure |
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