ketoacidosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Acidosis resulting from accumulation of ketone bodies. (Human Phenotype Ontology, HP_0001993)
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16 genes associated with the ketoacidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ACAT1 acetyl-CoA acetyltransferase 1
ACSF3 acyl-CoA synthetase family member 3
BTD biotinidase
CA5A carbonic anhydrase VA, mitochondrial
CYC1 cytochrome c-1
GCK glucokinase (hexokinase 4)
GK glycerol kinase
INS insulin
INSR insulin receptor
IVD isovaleryl-CoA dehydrogenase
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MUT methylmalonyl CoA mutase
OXCT1 3-oxoacid CoA transferase 1
PAX4 paired box 4