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 |
UniProt ID | Protein Name | Source |
---|---|---|
Q9Y286 | Sialic acid-binding Ig-like lectin 7 |
HPO ID | HPO Term |
---|---|
HP:0011096 | Peripheral demyelination |
HP:0002650 | Scoliosis |
HP:0007210 | Lower limb amyotrophy |
HP:0001155 | Abnormality of the hand |
HP:0003431 | Decreased motor nerve conduction velocity |
HP:0008081 | Pes valgus |
HP:0001762 | Talipes equinovarus |
HP:0010830 | Impaired tactile sensation |
HP:0002505 | Loss of ambulation |
HP:0007108 | Demyelinating peripheral neuropathy |
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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