ketosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Presence of elevated levels of ketone bodies in the body. (Human Phenotype Ontology, HP_0001946)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001946
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Genes

28 genes associated with the ketosis 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
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide
BTD biotinidase
CA5A carbonic anhydrase VA, mitochondrial
CYC1 cytochrome c-1
DBT dihydrolipoamide branched chain transacylase E2
FBP1 fructose-1,6-bisphosphatase 1
GCDH glutaryl-CoA dehydrogenase
GCK glucokinase (hexokinase 4)
GK glycerol kinase
GYS2 glycogen synthase 2 (liver)
INS insulin
INSR insulin receptor
IVD isovaleryl-CoA dehydrogenase
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MLYCD malonyl-CoA decarboxylase
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MUT methylmalonyl CoA mutase
OXCT1 3-oxoacid CoA transferase 1
PAX4 paired box 4
PHKA2 phosphorylase kinase, alpha 2 (liver)
PHKG2 phosphorylase kinase, gamma 2 (testis)
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4