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:0060402 | chromosome 17p13.1 deletion syndrome | |
DOID:0060469 | Miller-Dieker lissencephaly syndrome | |
DOID:0060551 | poikiloderma with neutropenia | |
DOID:0080348 | Alzheimer's disease 1 | |
DOID:0080459 | developmental and epileptic encephalopathy 12 | |
DOID:0080468 | developmental and epileptic encephalopathy 1 | |
DOID:0080512 | Meier-Gorlin syndrome 1 | |
DOID:0110035 | Alzheimer's disease 2 | |
DOID:0110037 | Alzheimer's disease 5 | |
DOID:0110038 | Alzheimer's disease 6 |
HPO ID | HPO Term |
---|---|
HP:0012469 | Infantile spasms |
HP:0012758 | Neurodevelopmental delay |
HP:0100543 | Cognitive impairment |
HP:0200134 | Epileptic encephalopathy |
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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Last updated: August 19, 2024