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: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 |
---|---|---|---|
105981714 | DIPOR03746 | ||
100765538 | CRIGR12965 | ||
78928 | MGI:1926178 | MOUSE33788 | |
296360 | RGD:1307156 | RATNO27030 | |
100724365 | CAVPO16502 | ||
101726322 | HETGA11843 | ||
100618767 | MONDO08379 | ||
102444991 | PELSI15709 | ||
100560337 | ANOCA15606 | ||
107087509 | CYPVA09945 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024