Nephronophthisis Gene Set

Dataset DisGeNET Gene-Disease Associations
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)
External Link https://www.disgenet.org/browser/0/1/0/C0687120
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Genes

100 genes associated with the disease Nephronophthisis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AATF apoptosis antagonizing transcription factor
ACE angiotensin I converting enzyme
ACTN4 actinin, alpha 4
ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif, 9
AGXT alanine-glyoxylate aminotransferase
AHI1 Abelson helper integration site 1
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ANKS3 ankyrin repeat and sterile alpha motif domain containing 3
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
ANPEP alanyl (membrane) aminopeptidase
ATXN10 ataxin 10
AVPR2 arginine vasopressin receptor 2
BCL2 B-cell CLL/lymphoma 2
CC2D2A coiled-coil and C2 domain containing 2A
CDK5 cyclin-dependent kinase 5
CEP120 centrosomal protein 120kDa
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
CEP83 centrosomal protein 83kDa
CNTRL centriolin
COL4A1 collagen, type IV, alpha 1
CRTC2 CREB regulated transcription coactivator 2
CSPP1 centrosome and spindle pole associated protein 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYS1 cystin 1
DAP death-associated protein
DCDC2 doublecortin domain containing 2
DNAJC13 DnaJ (Hsp40) homolog, subfamily C, member 13
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
FAM186B family with sequence similarity 186, member B
FAN1 FANCD2/FANCI-associated nuclease 1
FN1 fibronectin 1
GLIS2 GLIS family zinc finger 2
GLIS3 GLIS family zinc finger 3
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HNF1A HNF1 homeobox A
HNF1B HNF1 homeobox B
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT43 intraflagellar transport 43
IFT54 intraflagellar transport 54
IFT80 intraflagellar transport 80
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
INCENP inner centromere protein antigens 135/155kDa
INTU inturned planar cell polarity protein
INVS inversin
IQCB1 IQ motif containing B1
KIF3A kinesin family member 3A
LGALS1 lectin, galactoside-binding, soluble, 1
MALL mal, T-cell differentiation protein-like
MAPKBP1 mitogen-activated protein kinase binding protein 1
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MLYCD malonyl-CoA decarboxylase
MUC1 mucin 1, cell surface associated
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NEK8 NIMA-related kinase 8
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPHP4 nephronophthisis 4
NXPH1 neurexophilin 1
NXPH2 neurexophilin 2
NXPH3 neurexophilin 3
PACRG PARK2 co-regulated
PAM16 presequence translocase-associated motor 16 homolog (S. cerevisiae)
PAX2 paired box 2
PIAS1 protein inhibitor of activated STAT, 1
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PRPF40B PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)
RBM48 RNA binding motif protein 48
RCC1 regulator of chromosome condensation 1
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
SCLT1 sodium channel and clathrin linker 1
SDCCAG8 serologically defined colon cancer antigen 8
SGK1 serum/glucocorticoid regulated kinase 1
SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12
SLC41A1 solute carrier family 41 (magnesium transporter), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
STS steroid sulfatase (microsomal), isozyme S
TCTN2 tectonic family member 2
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TIMP2 TIMP metallopeptidase inhibitor 2
TINAG tubulointerstitial nephritis antigen
TMEM216 transmembrane protein 216
TMEM218 transmembrane protein 218
TMEM67 transmembrane protein 67
TNF tumor necrosis factor
TTC21B tetratricopeptide repeat domain 21B
UMOD uromodulin
VIM vimentin
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR60 WD repeat domain 60
WT1 Wilms tumor 1
WWTR1 WW domain containing transcription regulator 1
XPNPEP3 X-prolyl aminopeptidase 3, mitochondrial
ZNF423 zinc finger protein 423