abnormality of the renal tubule Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the renal tubules. (Human Phenotype Ontology, HP_0000091)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000091
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Genes

67 genes associated with the abnormality of the renal tubule phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
ACP5 acid phosphatase 5, tartrate resistant
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
ALDOB aldolase B, fructose-bisphosphate
ALG8 ALG8, alpha-1,3-glucosyltransferase
ALMS1 Alstrom syndrome protein 1
ANTXR1 anthrax toxin receptor 1
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BSND barttin CLCNK-type chloride channel accessory beta subunit
CA2 carbonic anhydrase II
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
CEP83 centrosomal protein 83kDa
CLCN5 chloride channel, voltage-sensitive 5
COG6 component of oligomeric golgi complex 6
COX1
COX2
COX3
CPT1A carnitine palmitoyltransferase 1A (liver)
CTNS cystinosin, lysosomal cystine transporter
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
FERMT1 fermitin family member 1
GBE1 glucan (1,4-alpha-), branching enzyme 1
GLA galactosidase, alpha
GLIS2 GLIS family zinc finger 2
IFT122 intraflagellar transport 122
INVS inversin
IQCB1 IQ motif containing B1
LRP2 low density lipoprotein receptor-related protein 2
MRPS22 mitochondrial ribosomal protein S22
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MUC1 mucin 1, cell surface associated
MUT methylmalonyl CoA mutase
MYO1E myosin IE
ND1
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPHP4 nephronophthisis 4
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
OCRL oculocerebrorenal syndrome of Lowe
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PMM2 phosphomannomutase 2
PTPRO protein tyrosine phosphatase, receptor type, O
REN renin
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SDCCAG8 serologically defined colon cancer antigen 8
SFTPC surfactant protein C
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
TMEM67 transmembrane protein 67
UMOD uromodulin
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)
WDR19 WD repeat domain 19
XPNPEP3 X-prolyl aminopeptidase 3, mitochondrial