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 |
---|---|---|
O96024 | Beta-1,3-galactosyltransferase 4 | |
P00326 | Alcohol dehydrogenase 1C | |
P04040 | Catalase | |
P04062 | Lysosomal acid glucosylceramidase | |
P04406 | Glyceraldehyde-3-phosphate dehydrogenase | |
P05091 | Aldehyde dehydrogenase, mitochondrial | |
P06280 | Alpha-galactosidase A | |
P07954 | Fumarate hydratase, mitochondrial | |
P15289 | Arylsulfatase A | |
P17405 | Sphingomyelin phosphodiesterase |
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
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 19, 2024