UniProt | Protein Name |
---|---|
Q9NQ66 |
|
GO Term | Evidence Code | PMID |
---|---|---|
protein binding | ||
phosphatidylinositol phospholipase C activity | ||
GTPase activator activity | ||
calmodulin binding | ||
identical protein binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:3329 | benign epilepsy with centrotemporal spikes | |
DOID:3362 | coronary aneurysm | |
DOID:3459 | breast carcinoma | |
DOID:3535 | Unverricht-Lundborg syndrome | |
DOID:3571 | liver cancer | |
DOID:3620 | central nervous system cancer | |
DOID:450 | myotonic disease | |
DOID:4851 | pilocytic astrocytoma | |
DOID:4903 | granular cell carcinoma | |
DOID:4929 | tubular adenocarcinoma |
HPO ID | HPO Term |
---|---|
HP:0004302 | Functional motor deficit |
HP:0006813 | Focal hemiclonic seizure |
HP:0007334 | Bilateral tonic-clonic seizure with focal onset |
HP:0007359 | Focal-onset seizure |
HP:0008936 | Axial hypotonia |
HP:0010821 | Focal emotional seizure with laughing |
HP:0010841 | Multifocal epileptiform discharges |
HP:0011097 | Epileptic spasm |
HP:0011121 | Abnormal skin morphology |
HP:0012448 | Delayed myelination |
Disease ID | Disease Name |
---|---|
ORPHA:293181 |
|
OMIM:613722 |
|
ORPHA:3451 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
33204 | FB:FBgn0004611 | ||
102682351 | LEPOC00682 | ||
103033987 | ASTMX01408 | ||
108270307 | ICTPU35692 | ||
113572657 | ELEEL13338 | ||
105017520 | ESOLU53410 | ||
115174482 | SALTR53071 | ||
100698389 | ORENI20706 | ||
102301989 | HAPBU04671 | ||
113006666 | ASTCA10109 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024