abnormal circulating ketone body level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description aberrant amount of acetoacetate, 3-hydroxybutyrate (beta-hydroxybutyrate) and/or acteone in the blood, which are produced by fatty acid and carbohydrate metabolism and seen in conditions such as starvation and diabetes mellitus (Mammalian Phenotype Ontology, MP_0003457)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003457
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43 gene mutations causing the abnormal circulating ketone body level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACACB acetyl-CoA carboxylase beta
ACOT13 acyl-CoA thioesterase 13
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
AGRP agouti related neuropeptide
APOC3 apolipoprotein C-III
ARRDC3 arrestin domain containing 3
BAG3 BCL2-associated athanogene 3
BCAT2 branched chain amino-acid transaminase 2, mitochondrial
CD36 CD36 molecule (thrombospondin receptor)
CIDEC cell death-inducing DFFA-like effector c
EDN2 endothelin 2
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
FFAR3 free fatty acid receptor 3
FGF21 fibroblast growth factor 21
GCK glucokinase (hexokinase 4)
GLIS3 GLIS family zinc finger 3
GPAM glycerol-3-phosphate acyltransferase, mitochondrial
HADH hydroxyacyl-CoA dehydrogenase
HNF4A hepatocyte nuclear factor 4, alpha
HPRT1 hypoxanthine phosphoribosyltransferase 1
INS insulin
INSR insulin receptor
KLB klotho beta
KLF15 Kruppel-like factor 15
MGLL monoglyceride lipase
NCOR1 nuclear receptor corepressor 1
OXCT1 3-oxoacid CoA transferase 1
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PDK4 pyruvate dehydrogenase kinase, isozyme 4
PEX11A peroxisomal biogenesis factor 11 alpha
PLIN1 perilipin 1
PPARA peroxisome proliferator-activated receptor alpha
RGS16 regulator of G-protein signaling 16
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SLC27A5 solute carrier family 27 (fatty acid transporter), member 5
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SOD2 superoxide dismutase 2, mitochondrial
SREBF1 sterol regulatory element binding transcription factor 1
TMEM27 transmembrane protein 27
TNKS tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase
TSC1 tuberous sclerosis 1
TXNIP thioredoxin interacting protein
ZBTB20 zinc finger and BTB domain containing 20