episodic metabolic acidosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids. (Human Phenotype Ontology, HP_0004911)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004911
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3 genes associated with the episodic metabolic acidosis 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
CTNS cystinosin, lysosomal cystine transporter
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)