Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
5310 | PKD1 | polycystin 1, transient receptor potential channel interacting | |
5336 | PLCG2 | phospholipase C gamma 2 | |
5621 | PRNP | prion protein (Kanno blood group) | |
5742 | PTGS1 | prostaglandin-endoperoxide synthase 1 | |
5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
6517 | SLC2A4 | solute carrier family 2 member 4 | |
6783 | SULT1E1 | sulfotransferase family 1E member 1 | |
7167 | TPI1 | triosephosphate isomerase 1 |
HPO ID | HPO Term |
---|---|
HP:0003487 | Babinski sign |
HP:0005327 | Loss of facial expression |
HP:0006943 | Diffuse spongiform leukoencephalopathy |
HP:0007009 | Central nervous system degeneration |
HP:0007017 | Progressive forgetfulness |
HP:0007158 | Progressive extrapyramidal muscular rigidity |
HP:0007183 | Focal T2 hyperintense basal ganglia lesion |
HP:0007256 | Abnormal pyramidal sign |
HP:0007686 | Abnormal pupillary function |
HP:0010542 | Vestibular nystagmus |
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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