UniProt | Protein Name |
---|---|
Q9NQ66 |
|
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: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 |
---|---|---|---|
33204 | FB:FBgn0004611 | ||
102345855 | LATCH10754 | ||
102682351 | LEPOC00682 | ||
103021983 | ASTMX16479 | ||
103033987 | ASTMX01408 | ||
108258091 | ICTPU20431 | ||
108270307 | ICTPU35692 | ||
113572657 | ELEEL13338 | ||
113589181 | ELEEL05916 | ||
115174482 | SALTR53071 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 19, 2024