proximal tubulopathy Gene Set

Dataset	HPO Gene-Disease Associations
Category	disease or phenotype associations
Type	phenotype
Description	Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle. (Human Phenotype Ontology, HP_0000114)
External Link	http://compbio.charite.de/hpoweb/showterm?id=HP:0000114
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Genes

11 genes associated with the proximal tubulopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol	Name
ALDOB	aldolase B, fructose-bisphosphate
CLCN5	chloride channel, voltage-sensitive 5
COG6	component of oligomeric golgi complex 6
ETFA	electron-transfer-flavoprotein, alpha polypeptide
ETFB	electron-transfer-flavoprotein, beta polypeptide
ETFDH	electron-transferring-flavoprotein dehydrogenase
LRP2	low density lipoprotein receptor-related protein 2
OCRL	oculocerebrorenal syndrome of Lowe
PMM2	phosphomannomutase 2
RRM2B	ribonucleotide reductase M2 B (TP53 inducible)
SLC34A1	solute carrier family 34 (type II sodium/phosphate cotransporter), member 1