UniProt | Protein Name |
---|---|
Q75T13 |
|
GO Term | Evidence Code | PMID |
---|---|---|
positive regulation of ER to Golgi vesicle-mediated transport | ||
embryonic pattern specification | ||
sensory perception of sound | ||
GPI anchor metabolic process | ||
anterior/posterior axis specification |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum | ||
endoplasmic reticulum membrane |
|
GO Term | Evidence Code | PMID |
---|---|---|
phosphatidylinositol deacylase activity | ||
hydrolase activity, acting on ester bonds |
|
DO ID | Disease Name | Source |
---|---|---|
DOID:3327 | partial motor epilepsy | |
DOID:4090 | agnosia | |
DOID:4480 | achondroplasia | |
DOID:4621 | holoprosencephaly | |
DOID:4964 | neurotic disorder | |
DOID:5212 | congenital disorder of glycosylation | |
DOID:543 | dystonia | |
DOID:8501 | fundus dystrophy | |
DOID:8584 | Burkitt lymphoma | |
DOID:8927 | learning disability |
HPO ID | HPO Term |
---|---|
HP:0001257 | Spasticity |
HP:0001263 | Global developmental delay |
HP:0001270 | Motor delay |
HP:0001274 | Agenesis of corpus callosum |
HP:0001276 | Hypertonia |
HP:0001319 | Neonatal hypotonia |
HP:0001320 | Cerebellar vermis hypoplasia |
HP:0001344 | Absent speech |
HP:0001347 | Hyperreflexia |
HP:0001508 | Failure to thrive |
Disease ID | Disease Name |
---|---|
OMIM:615802 |
|
ORPHA:401820 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100964587 | OTOGA06631 | ||
101076937 | TAKRU26411 | ||
102025426 | CHILA00434 | ||
105718373 | AOTNA26680 | ||
101043843 | SAIBB09736 | ||
111218622 | SERDU02339 | ||
101603372 | JACJA04921 | ||
102428321 | MYOLU00868 | ||
117026012 | RHIFE14454 | ||
100227199 | TAEGU28443 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024