| Dataset | HPO Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | An increased concentration of ethylmalonic acid in the urine. (Human Phenotype Ontology, HP_0003219) |
| External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0003219 |
| Similar Terms | |
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6 genes associated with the ethylmalonic aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| ACADS | acyl-CoA dehydrogenase, C-2 to C-3 short chain |
| ETFA | electron-transfer-flavoprotein, alpha polypeptide |
| ETFB | electron-transfer-flavoprotein, beta polypeptide |
| ETFDH | electron-transferring-flavoprotein dehydrogenase |
| ETHE1 | ethylmalonic encephalopathy 1 |
| POLG | polymerase (DNA directed), gamma |
