Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
126 | ADH1C | alcohol dehydrogenase 1C (class I), gamma polypeptide | |
217 | ALDH2 | aldehyde dehydrogenase 2 family member | |
410 | ARSA | arylsulfatase A | |
847 | CAT | catalase | |
1312 | COMT | catechol-O-methyltransferase | |
2271 | FH | fumarate hydratase | |
2581 | GALC | galactosylceramidase | |
2597 | GAPDH | glyceraldehyde-3-phosphate dehydrogenase | |
2629 | GBA1 | glucosylceramidase beta 1 | |
2717 | GLA | galactosidase alpha |
UniProt ID | Protein Name | Source |
---|---|---|
P19320 | Vascular cell adhesion protein 1 | |
P21964 | Catechol O-methyltransferase | |
P35354 | Prostaglandin G/H synthase 2 | |
P41222 | Prostaglandin-H2 D-isomerase | |
P43034 | Platelet-activating factor acetylhydrolase IB subunit beta | |
P54803 | Galactocerebrosidase | |
Q16842 | CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2 | |
Q6SZW1 | NAD(+) hydrolase SARM1 | |
Q9NRA2 | Sialin | |
Q9P121 | Neurotrimin |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000012 | Urinary urgency |
HP:0000298 | Mask-like facies |
HP:0000716 | Depression |
HP:0000726 | Dementia |
HP:0000738 | Hallucinations |
HP:0000751 | Personality changes |
HP:0001260 | Dysarthria |
HP:0001300 | Parkinsonism |
HP:0001332 | Dystonia |
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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