generalized aminoaciduria Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An increased concentration of all types of amino acid in the urine. (Human Phenotype Ontology, HP_0002909)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002909
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Genes

8 genes associated with the generalized aminoaciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CTNS cystinosin, lysosomal cystine transporter
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DGUOK deoxyguanosine kinase
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1