Ketonuria Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description High levels of ketone bodies in the urine. (Human Phenotype Ontology, HP_0002919)
External Link https://www.disgenet.org/browser/0/1/0/C0162275
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Genes

25 genes associated with the disease Ketonuria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ACAT1 acetyl-CoA acetyltransferase 1
BGLAP bone gamma-carboxyglutamate (gla) protein
CA5A carbonic anhydrase VA, mitochondrial
GCDH glutaryl-CoA dehydrogenase
GCK glucokinase (hexokinase 4)
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GYS2 glycogen synthase 2 (liver)
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase
INS insulin
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MCEE methylmalonyl CoA epimerase
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
OXCT1 3-oxoacid CoA transferase 1
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PDX1 pancreatic and duodenal homeobox 1
PLAGL1 pleiomorphic adenoma gene-like 1
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
TANGO2 transport and golgi organization 2 homolog (Drosophila)
ZFP57 ZFP57 zinc finger protein