aciduria Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Ecretion of urine with an acid pH. (Human Phenotype Ontology, HP_0012072)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010028
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Genes

38 gene mutations causing the aciduria phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACADL acyl-CoA dehydrogenase, long chain
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
AGA aspartylglucosaminidase
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase)
APRT adenine phosphoribosyltransferase
BCAT2 branched chain amino-acid transaminase 2, mitochondrial
CDK4 cyclin-dependent kinase 4
CLCN5 chloride channel, voltage-sensitive 5
CTH cystathionine gamma-lyase
DBT dihydrolipoamide branched chain transacylase E2
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
GCDH glutaryl-CoA dehydrogenase
GSTZ1 glutathione S-transferase zeta 1
HADH hydroxyacyl-CoA dehydrogenase
HAL histidine ammonia-lyase
HGD homogentisate 1,2-dioxygenase
HNF1A HNF1 homeobox A
INSR insulin receptor
KLF15 Kruppel-like factor 15
MOCS1 molybdenum cofactor synthesis 1
MUT methylmalonyl CoA mutase
NEUROD1 neuronal differentiation 1
OAT ornithine aminotransferase
OTC ornithine carbamoyltransferase
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
PCCA propionyl CoA carboxylase, alpha polypeptide
SLC13A2 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2
SLC16A10 solute carrier family 16 (aromatic amino acid transporter), member 10
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC23A1 solute carrier family 23 (ascorbic acid transporter), member 1
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC6A18 solute carrier family 6 (neutral amino acid transporter), member 18
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
SOD2 superoxide dismutase 2, mitochondrial
TMEM27 transmembrane protein 27