UniProt | Protein Name |
---|---|
Q9NQ66 |
|
GO Term | Evidence Code | PMID |
---|---|---|
phosphatidylinositol-mediated signaling | ||
negative regulation of monocyte extravasation | ||
positive regulation of acrosome reaction | ||
cellular response to ionomycin | ||
positive regulation of interleukin-12 production |
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:162 | cancer | |
DOID:1826 | epilepsy | |
DOID:1837 | diabetic ketoacidosis | |
DOID:219 | colon cancer | |
DOID:2224 | essential thrombocythemia | |
DOID:2234 | focal epilepsy | |
DOID:234 | colon adenocarcinoma | |
DOID:235 | colonic benign neoplasm | |
DOID:2481 | obsolete infantile epileptic encephalopathy | |
DOID:2848 | obsolete melancholia |
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 |
---|---|---|---|
102529315 | VICPA00297 | ||
112158335 | ORYME16695 | ||
101065367 | TAKRU14042 | ||
102020797 | CHILA04920 | ||
105719088 | AOTNA04880 | ||
101047168 | SAIBB21825 | ||
111240392 | SERDU01521 | ||
108423552 | PYGNA04390 | ||
101954421 | ICTTR08186 | ||
103148043 | POEFO17138 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024