abnormal urine amino acid level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the amount in the urine of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group (Mammalian Phenotype Ontology, MP_0011468)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011468
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39 gene mutations causing the abnormal urine amino acid level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADCY6 adenylate cyclase 6
AGA aspartylglucosaminidase
AGTR1 angiotensin II receptor, type 1
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase)
AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase)
APRT adenine phosphoribosyltransferase
BCAT2 branched chain amino-acid transaminase 2, mitochondrial
CLCN5 chloride channel, voltage-sensitive 5
CTH cystathionine gamma-lyase
CYBB cytochrome b-245, beta polypeptide
DBT dihydrolipoamide branched chain transacylase E2
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
GAMT guanidinoacetate N-methyltransferase
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GCDH glutaryl-CoA dehydrogenase
HAL histidine ammonia-lyase
HGD homogentisate 1,2-dioxygenase
HNF1A HNF1 homeobox A
HRAS Harvey rat sarcoma viral oncogene homolog
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
MOCS1 molybdenum cofactor synthesis 1
NFE2L2 nuclear factor, erythroid 2-like 2
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
SCTR secretin receptor
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC14A1 solute carrier family 14 (urea transporter), member 1 (Kidd blood group)
SLC16A10 solute carrier family 16 (aromatic amino acid transporter), member 10
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
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
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2
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
UMOD uromodulin
UPK2 uroplakin 2