tubulointerstitial abnormality Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality that involves the tubules and interstitial tissue of the kidney. (Human Phenotype Ontology, HP_0001969)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001969
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Genes

20 genes associated with the tubulointerstitial abnormality phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACP5 acid phosphatase 5, tartrate resistant
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
CEP83 centrosomal protein 83kDa
CLCN5 chloride channel, voltage-sensitive 5
GBE1 glucan (1,4-alpha-), branching enzyme 1
IFT122 intraflagellar transport 122
INVS inversin
MUC1 mucin 1, cell surface associated
MUT methylmalonyl CoA mutase
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPHP4 nephronophthisis 4
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PTPRO protein tyrosine phosphatase, receptor type, O
REN renin
SFTPC surfactant protein C
WDR19 WD repeat domain 19
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