distal 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 acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. (Human Phenotype Ontology, HP_0008341)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008341
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4 genes associated with the distal renal tubular acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
CA2 carbonic anhydrase II
FN1 fibronectin 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)