Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
128 | ADH5 | alcohol dehydrogenase 5 (class III), chi polypeptide | |
218 | ALDH3A1 | aldehyde dehydrogenase 3 family member A1 | |
221 | ALDH3B1 | aldehyde dehydrogenase 3 family member B1 | |
222 | ALDH3B2 | aldehyde dehydrogenase 3 family member B2 | |
224 | ALDH3A2 | aldehyde dehydrogenase 3 family member A2 | |
242 | ALOX12B | arachidonate 12-lipoxygenase, 12R type | |
412 | STS | steroid sulfatase | |
2181 | ACSL3 | acyl-CoA synthetase long chain family member 3 | |
2182 | ACSL4 | acyl-CoA synthetase long chain family member 4 | |
2629 | GBA1 | glucosylceramidase beta 1 |
HPO ID | HPO Term |
---|---|
HP:0001387 | Joint stiffness |
HP:0000962 | Hyperkeratosis |
HP:0007703 | Abnormality of retinal pigmentation |
HP:0000608 | Macular degeneration |
HP:0002808 | Kyphosis |
HP:0200020 | Corneal erosion |
HP:0001252 | Hypotonia |
HP:0000488 | Retinopathy |
HP:0001260 | Dysarthria |
HP:0007256 | Abnormal pyramidal sign |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: August 19, 2024