Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
34 | ACADM | acyl-CoA dehydrogenase medium chain | |
35 | ACADS | acyl-CoA dehydrogenase short chain | |
410 | ARSA | arylsulfatase A | |
1374 | CPT1A | carnitine palmitoyltransferase 1A | |
1376 | CPT2 | carnitine palmitoyltransferase 2 | |
26503 | SLC17A5 | solute carrier family 17 member 5 |
UniProt ID | Protein Name | Source |
---|---|---|
P11310 | Medium-chain specific acyl-CoA dehydrogenase, mitochondrial | |
P15289 | Arylsulfatase A | |
P23786 | Carnitine O-palmitoyltransferase 2, mitochondrial | |
P50416 | Carnitine O-palmitoyltransferase 1, liver isoform | |
Q9NRA2 | Sialin |
HPO ID | HPO Term |
---|---|
HP:0002069 | Bilateral tonic-clonic seizure |
HP:0011675 | Arrhythmia |
HP:0001397 | Hepatic steatosis |
HP:0003236 | Elevated circulating creatine kinase concentration |
HP:0001252 | Hypotonia |
HP:0002910 | Elevated circulating hepatic transaminase concentration |
HP:0003738 | Exercise-induced myalgia |
HP:0001946 | Ketosis |
HP:0000750 | Delayed speech and language development |
HP:0003202 | Skeletal muscle atrophy |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
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