UniProt | Protein Name |
---|---|
Q9NQ66 |
|
GO Term | Evidence Code | PMID |
---|---|---|
nuclear speck | ||
chromatin | ||
GABA-ergic synapse | ||
nuclear membrane | ||
extracellular exosome |
GO Term | Evidence Code | PMID |
---|---|---|
enzyme binding | ||
phospholipase C activity |
|
|
phosphatidylinositol-4,5-bisphosphate binding | ||
calcium ion binding | ||
lamin binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:0050453 | lissencephaly | |
DOID:0050562 | West syndrome | |
DOID:0050709 | early infantile epileptic encephalopathy | |
DOID:0050742 | nicotine dependence | |
DOID:0050759 | myotonic dystrophy type 2 | |
DOID:0050841 | focal hand dystonia | |
DOID:0050848 | obstructive sleep apnea | |
DOID:0050908 | myelodysplastic syndrome | |
DOID:0060041 | autism spectrum disorder | |
DOID:0060306 | Meier-Gorlin syndrome |
HPO ID | HPO Term |
---|---|
HP:0012469 | Infantile spasms |
HP:0012758 | Neurodevelopmental delay |
HP:0100543 | Cognitive impairment |
HP:0200134 | Epileptic encephalopathy |
Disease ID | Disease Name |
---|---|
ORPHA:293181 |
|
OMIM:613722 |
|
ORPHA:3451 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
102529315 | VICPA00297 | ||
112158335 | ORYME16695 | ||
101065367 | TAKRU14042 | ||
102020797 | CHILA04920 | ||
105719088 | AOTNA04880 | ||
101047168 | SAIBB21825 | ||
111240392 | SERDU01521 | ||
108423552 | PYGNA04390 | ||
101954421 | ICTTR08186 | ||
103148043 | POEFO17138 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024