Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
8803 | SUCLA2 | succinate-CoA ligase ADP-forming subunit beta | |
8867 | SYNJ1 | synaptojanin 1 | |
9108 | MTMR7 | myotubularin related protein 7 | |
9672 | SDC3 | syndecan 3 | |
10195 | ALG3 | ALG3 alpha-1,3- mannosyltransferase | |
10728 | PTGES3 | prostaglandin E synthase 3 | |
10858 | CYP46A1 | cytochrome P450 family 46 subfamily A member 1 | |
23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
26330 | GAPDHS | glyceraldehyde-3-phosphate dehydrogenase, spermatogenic | |
56052 | ALG1 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase |
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