UniProt | Protein Name |
---|---|
Q9NQ66 |
|
GO Term | Evidence Code | PMID |
---|---|---|
enzyme binding | ||
phospholipase C activity |
|
|
phosphatidylinositol-4,5-bisphosphate binding | ||
calcium ion binding | ||
lamin binding |
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 |
---|---|---|---|
33204 | FB:FBgn0004611 | ||
102682351 | LEPOC00682 | ||
103033987 | ASTMX01408 | ||
108270307 | ICTPU35692 | ||
113572657 | ELEEL13338 | ||
105017520 | ESOLU53410 | ||
115174482 | SALTR53071 | ||
100698389 | ORENI20706 | ||
102301989 | HAPBU04671 | ||
113006666 | ASTCA10109 |
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Last updated: August 19, 2024