Nephronophthisis Gene Set

Dataset	DISEASES Curated Gene-Disease Association Evidence Scores 2025
Category	disease or phenotype associations
Type	disease
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)
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Genes

22 genes involed in the disease Nephronophthisis from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Symbol	Name	Standardized Value
WDR19	WD repeat domain 19	4.0
ANKS6	ankyrin repeat and sterile alpha motif domain containing 6	4.0
DCDC2	doublecortin domain containing 2	4.0
UMOD	uromodulin	4.0
CEP290	centrosomal protein 290kDa	4.0
NPHP3	nephronophthisis 3 (adolescent)	4.0
NPHP1	nephronophthisis 1 (juvenile)	4.0
NPHP4	nephronophthisis 4	4.0
SLC41A1	solute carrier family 41 (magnesium transporter), member 1	4.0
CEP83	centrosomal protein 83kDa	4.0
GLIS2	GLIS family zinc finger 2	4.0
XPNPEP3	X-prolyl aminopeptidase 3, mitochondrial	4.0
SDCCAG8	serologically defined colon cancer antigen 8	4.0
TTC21B	tetratricopeptide repeat domain 21B	4.0
ZNF423	zinc finger protein 423	4.0
TMEM67	transmembrane protein 67	4.0
MAPKBP1	mitogen-activated protein kinase binding protein 1	4.0
NEK8	NIMA-related kinase 8	4.0
INVS	inversin	4.0
IFT54	intraflagellar transport 54	4.0
IQCB1	IQ motif containing B1	4.0
CEP164	centrosomal protein 164kDa	4.0