aminoaciduria Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An increased concentration of an amino acid in the urine. (Human Phenotype Ontology, HP_0003355)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003311
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Genes

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

Symbol Name
AGA aspartylglucosaminidase
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase)
APRT adenine phosphoribosyltransferase
CLCN5 chloride channel, voltage-sensitive 5
CTH cystathionine gamma-lyase
DBT dihydrolipoamide branched chain transacylase E2
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
GCDH glutaryl-CoA dehydrogenase
HAL histidine ammonia-lyase
HGD homogentisate 1,2-dioxygenase
HNF1A HNF1 homeobox A
MOCS1 molybdenum cofactor synthesis 1
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
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
TMEM27 transmembrane protein 27