proximal renal tubular acidosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia. (Human Phenotype Ontology, HP_0002049)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002049
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Genes

5 genes associated with the proximal renal tubular acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALDOB aldolase B, fructose-bisphosphate
OCRL oculocerebrorenal syndrome of Lowe
PC pyruvate carboxylase
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2