cystinuria Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder. (Human Disease Ontology, DOID_9266)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003131
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Genes

2 genes associated with the cystinuria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
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