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: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:0001347 | Hyperreflexia |
HP:0001508 | Failure to thrive |
HP:0002059 | Cerebral atrophy |
HP:0002069 | Bilateral tonic-clonic seizure |
HP:0002376 | Developmental regression |
HP:0002384 | Focal impaired awareness seizure |
HP:0002521 | Hypsarrhythmia |
HP:0002540 | Inability to walk |
HP:0002650 | Scoliosis |
HP:0003593 | Infantile onset |
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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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024