renal tubular dysfunction Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000124
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Genes

31 genes associated with the renal tubular dysfunction 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
ATP7B ATPase, Cu++ transporting, beta polypeptide
CA2 carbonic anhydrase II
CLDN16 claudin 16
COA5 cytochrome c oxidase assembly factor 5
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX14 COX14 cytochrome c oxidase assembly factor
COX20 COX20 cytochrome c oxidase assembly factor
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
CPT1A carnitine palmitoyltransferase 1A (liver)
FASTKD2 FAST kinase domains 2
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
PET100 PET100 homolog (S. cerevisiae)
PEX19 peroxisomal biogenesis factor 19
PHEX phosphate regulating endopeptidase homolog, X-linked
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
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)