renal tubular acidosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine. (Human Disease Ontology, DOID_14219)
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18 genes associated with the 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
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
CA2 carbonic anhydrase II
CLDN16 claudin 16
CPT1A carnitine palmitoyltransferase 1A (liver)
FBXL4 F-box and leucine-rich repeat protein 4
FN1 fibronectin 1
JAG1 jagged 1
NOTCH2 notch 2
OCRL oculocerebrorenal syndrome of Lowe
PC pyruvate carboxylase
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)