chronic kidney disease Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Functional anomaly of the kidney persisting for at least three months. (Human Phenotype Ontology, HP_0012622)
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50 genes associated with the chronic kidney disease phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADCK4 aarF domain containing kinase 4
AHI1 Abelson helper integration site 1
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
CD151 CD151 molecule (Raph blood group)
CEP290 centrosomal protein 290kDa
CEP83 centrosomal protein 83kDa
CFH complement factor H
CFHR5 complement factor H-related 5
CLCN5 chloride channel, voltage-sensitive 5
CLDN16 claudin 16
CLDN19 claudin 19
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A4 collagen, type IV, alpha 4
COL4A5 collagen, type IV, alpha 5
CTNS cystinosin, lysosomal cystine transporter
DGKE diacylglycerol kinase, epsilon 64kDa
FAN1 FANCD2/FANCI-associated nuclease 1
FN1 fibronectin 1
GATA3 GATA binding protein 3
GLIS2 GLIS family zinc finger 2
HNF1B HNF1 homeobox B
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT43 intraflagellar transport 43
INF2 inverted formin, FH2 and WH2 domain containing
INVS inversin
IQCB1 IQ motif containing B1
LAMB2 laminin, beta 2 (laminin S)
MUC1 mucin 1, cell surface associated
MUT methylmalonyl CoA mutase
MYH9 myosin, heavy chain 9, non-muscle
MYO1E myosin IE
NEK8 NIMA-related kinase 8
NPHP1 nephronophthisis 1 (juvenile)
NPHP4 nephronophthisis 4
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
OCRL oculocerebrorenal syndrome of Lowe
PAX2 paired box 2
PLCE1 phospholipase C, epsilon 1
RAD51C RAD51 paralog C
REN renin
SARS2 seryl-tRNA synthetase 2, mitochondrial
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
TMEM67 transmembrane protein 67
TRPC6 transient receptor potential cation channel, subfamily C, member 6
TTC21B tetratricopeptide repeat domain 21B
WDR19 WD repeat domain 19
WT1 Wilms tumor 1
XPNPEP3 X-prolyl aminopeptidase 3, mitochondrial