abnormality of the renal medulla Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the medulla of the kidney. (Human Phenotype Ontology, HP_0100957)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100957
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31 genes associated with the abnormality of the renal medulla phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AHI1 Abelson helper integration site 1
BSND barttin CLCNK-type chloride channel accessory beta subunit
CC2D2A coiled-coil and C2 domain containing 2A
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CEP83 centrosomal protein 83kDa
FAN1 FANCD2/FANCI-associated nuclease 1
GLIS2 GLIS family zinc finger 2
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT43 intraflagellar transport 43
INVS inversin
IQCB1 IQ motif containing B1
JAG1 jagged 1
MUC1 mucin 1, cell surface associated
NEK8 NIMA-related kinase 8
NIPBL Nipped-B homolog (Drosophila)
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPHP4 nephronophthisis 4
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
SDCCAG8 serologically defined colon cancer antigen 8
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM67 transmembrane protein 67
TTC21B tetratricopeptide repeat domain 21B
UMOD uromodulin
XPNPEP3 X-prolyl aminopeptidase 3, mitochondrial
ZNF423 zinc finger protein 423