UniProt ID | Protein Name | Source |
---|---|---|
P04406 | Glyceraldehyde-3-phosphate dehydrogenase | |
P49419 | Alpha-aminoadipic semialdehyde dehydrogenase |
HPO ID | HPO Term |
---|---|
HP:0000713 | Agitation |
HP:0000723 | Restrictive behavior |
HP:0000729 | Autistic behavior |
HP:0000748 | Inappropriate laughter |
HP:0000817 | Reduced eye contact |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001252 | Hypotonia |
HP:0001256 | Intellectual disability, mild |
HP:0001257 | Spasticity |
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 |
22854 | NTNG1 | netrin G1 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: August 19, 2024