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:10603 | glucose intolerance | |
DOID:10652 | Alzheimer's disease | |
DOID:114 | heart disease | |
DOID:11716 | prediabetes syndrome | |
DOID:11722 | myotonic dystrophy type 1 | |
DOID:11832 | visual epilepsy | |
DOID:11847 | coronary thrombosis | |
DOID:11870 | Pick's disease | |
DOID:12140 | Chagas disease | |
DOID:12236 | primary biliary cholangitis |
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 |
---|---|---|---|
115574335 | SPAAU60687 | ||
733258 | Xenbase:XB-GENE-6253450 | ||
108716400 | Xenbase:XB-GENE-17334890 | ||
780394 | Xenbase:XB-GENE-6045753 | ||
101932753 | CHRPI33817 | ||
109319490 | CROPO06907 | ||
113442728 | PSETE15005 | ||
100078508 | ORNAN26848 | ||
100409716 | CALJA32726 | ||
105582092 | CERAT03121 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024