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 |
UniProt ID | Protein Name | Source |
---|---|---|
Q9BT22 | Chitobiosyldiphosphodolichol beta-mannosyltransferase | |
Q9P2R7 | Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial | |
Q9Y6A2 | Cholesterol 24-hydroxylase |
HPO ID | HPO Term |
---|---|
HP:0000741 | Apathy |
HP:0000746 | Delusion |
HP:0000751 | Personality changes |
HP:0001250 | Seizure |
HP:0001289 | Confusion |
HP:0001324 | Muscle weakness |
HP:0001336 | Myoclonus |
HP:0001337 | Tremor |
HP:0001350 | Slurred speech |
HP:0002066 | Gait ataxia |
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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