Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
410 | ARSA | arylsulfatase A | |
821 | CANX | calnexin | |
847 | CAT | catalase | |
960 | CD44 | CD44 molecule (IN blood group) | |
1636 | ACE | angiotensin I converting enzyme | |
2629 | GBA1 | glucosylceramidase beta 1 | |
2877 | GPX2 | glutathione peroxidase 2 | |
3032 | HADHB | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | |
3098 | HK1 | hexokinase 1 | |
3931 | LCAT | lecithin-cholesterol acyltransferase |
HPO ID | HPO Term |
---|---|
HP:0003470 | Paralysis |
HP:0008944 | Distal lower limb amyotrophy |
HP:0000007 | Autosomal recessive inheritance |
HP:0003621 | Juvenile onset |
HP:0001265 | Hyporeflexia |
HP:0003387 | Decreased number of large peripheral myelinated nerve fibers |
HP:0009830 | Peripheral neuropathy |
HP:0007182 | Peripheral hypomyelination |
HP:0001618 | Dysphonia |
HP:0003450 | Axonal regeneration |
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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