urolithiasis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description presence of calculi in any part of the urinary system (Mammalian Phenotype Ontology, MP_0005360)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005360
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Genes

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

Symbol Name
AGXT alanine-glyoxylate aminotransferase
AHR aryl hydrocarbon receptor
APRT adenine phosphoribosyltransferase
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
CAV1 caveolin 1, caveolae protein, 22kDa
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal)
CLDN16 claudin 16
GRHPR glyoxylate reductase/hydroxypyruvate reductase
OTC ornithine carbamoyltransferase
SLC26A1 solute carrier family 26 (anion exchanger), member 1
SLC26A6 solute carrier family 26 (anion exchanger), member 6
SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC7A9 solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9
SPTB spectrin, beta, erythrocytic
UMOD uromodulin
UOX urate oxidase, pseudogene