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: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 |
---|---|---|---|
103669872 | URSMA14596 | ||
114035550 | VOMUR11192 | ||
105879785 | MICMU02971 | ||
100962465 | OTOGA13769 | ||
101061476 | TAKRU36220 | ||
102793327 | NEOBR05529 | ||
102005645 | CHILA11869 | ||
108236710 | KRYMA11529 | ||
105727457 | AOTNA07552 | ||
110206579 | PHACI34217 |
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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