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:3078 | anaplastic astrocytoma | |
DOID:308 | early myoclonic encephalopathy | |
DOID:318 | progressive muscular atrophy | |
DOID:3181 | oligodendroglioma | |
DOID:3183 | childhood oligodendroglioma | |
DOID:3186 | adult oligodendroglioma | |
DOID:3312 | bipolar disorder | |
DOID:332 | amyotrophic lateral sclerosis | |
DOID:3324 | mood disorder | |
DOID:3327 | partial motor epilepsy |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000252 | Microcephaly |
HP:0000505 | Visual impairment |
HP:0000707 | Abnormality of the nervous system |
HP:0000826 | Precocious puberty |
HP:0001252 | Hypotonia |
HP:0001257 | Spasticity |
HP:0001273 | Abnormal corpus callosum morphology |
HP:0001276 | Hypertonia |
HP:0001336 | Myoclonus |
Disease ID | Disease Name |
---|---|
ORPHA:293181 |
|
OMIM:613722 |
|
ORPHA:3451 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
102140615 | MACFA01196 | ||
718387 | MACMU00877 | ||
105481533 | MACNE22582 | ||
100998763 | PAPAN13023 | ||
105552818 | MANLE04157 | ||
101153613 | GORGO22413 | ||
100969660 | PANPA21845 | ||
469875 | PANTR24346 | ||
100434502 | PONAB20766 | ||
485773 | CANLF09304 |
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Last updated: August 19, 2024