Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
8867 | SYNJ1 | synaptojanin 1 | |
9091 | PIGQ | phosphatidylinositol glycan anchor biosynthesis class Q | |
9254 | CACNA2D2 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | |
23236 | PLCB1 | phospholipase C beta 1 | |
23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
51227 | PIGP | phosphatidylinositol glycan anchor biosynthesis class P |
UniProt ID | Protein Name | Source |
---|---|---|
O43426 | Synaptojanin-1 | |
Q9NQ66 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 | |
Q9NY47 | Voltage-dependent calcium channel subunit alpha-2/delta-2 |
HPO ID | HPO Term |
---|---|
HP:0002069 | Bilateral tonic-clonic seizure |
HP:0002079 | Hypoplasia of the corpus callosum |
HP:0002121 | Generalized non-motor (absence) seizure |
HP:0002131 | Episodic ataxia |
HP:0002353 | EEG abnormality |
HP:0002360 | Sleep abnormality |
HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) |
HP:0002421 | Poor head control |
HP:0002506 | Diffuse cerebral atrophy |
HP:0005280 | Depressed nasal bridge |
Gene ID | Gene Symbol | Description |
---|---|---|
51227 | PIGP | phosphatidylinositol glycan anchor biosynthesis class P |
9091 | PIGQ | phosphatidylinositol glycan anchor biosynthesis class Q |
23236 | PLCB1 | phospholipase C beta 1 |
5277 | PIGA | phosphatidylinositol glycan anchor biosynthesis class A |
6487 | ST3GAL3 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024