nephronophthisis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). (Human Disease Ontology, DOID_12712)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000090
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Genes

23 genes associated with the nephronophthisis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AHI1 Abelson helper integration site 1
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
IQCB1 IQ motif containing B1
NEK8 NIMA-related kinase 8
NPHP1 nephronophthisis 1 (juvenile)
NPHP4 nephronophthisis 4
RPGRIP1L RPGRIP1-like
SDCCAG8 serologically defined colon cancer antigen 8
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM67 transmembrane protein 67
TTC21B tetratricopeptide repeat domain 21B
XPNPEP3 X-prolyl aminopeptidase 3, mitochondrial
ZNF423 zinc finger protein 423