nephronophthisis Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
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

138 genes co-occuring with the disease nephronophthisis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
NPHP1 nephronophthisis 1 (juvenile) 3.12626
NPHP4 nephronophthisis 4 2.77206
NPHP3 nephronophthisis 3 (adolescent) 2.60801
INVS inversin 2.49697
UMOD uromodulin 2.28682
CEP290 centrosomal protein 290kDa 1.99271
NEK8 NIMA-related kinase 8 1.9825
AHI1 Abelson helper integration site 1 1.96708
IQCB1 IQ motif containing B1 1.91734
TMEM67 transmembrane protein 67 1.90009
APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 1.89545
B9D2 B9 protein domain 2 1.79616
SDCCAG8 serologically defined colon cancer antigen 8 1.74506
B9D1 B9 protein domain 1 1.73641
NEK9 NIMA-related kinase 9 1.73322
RPGRIP1L RPGRIP1-like 1.72593
CEP164 centrosomal protein 164kDa 1.67864
GLIS2 GLIS family zinc finger 2 1.67051
MKS1 Meckel syndrome, type 1 1.56178
XPNPEP3 X-prolyl aminopeptidase 3, mitochondrial 1.54672
CC2D2A coiled-coil and C2 domain containing 2A 1.49174
TMEM216 transmembrane protein 216 1.45572
OFD1 oral-facial-digital syndrome 1 1.42191
TTC21B tetratricopeptide repeat domain 21B 1.42191
TINAG tubulointerstitial nephritis antigen 1.38254
CC2D2B coiled-coil and C2 domain containing 2B 1.35986
DRC7 dynein regulatory complex subunit 7 1.35986
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 1.31537
WDR19 WD repeat domain 19 1.30445
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa 1.2909
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 1.27955
ARL13B ADP-ribosylation factor-like 13B 1.25645
UNC119B unc-119 homolog B (C. elegans) 1.22605
GLIS1 GLIS family zinc finger 1 1.22128
SLC41A3 solute carrier family 41, member 3 1.17679
SLC41A1 solute carrier family 41 (magnesium transporter), member 1 1.15752
RPGR retinitis pigmentosa GTPase regulator 1.12614
DCTN5 dynactin 5 (p25) 1.12614
CNTLN centlein, centrosomal protein 1.12235
IFT46 intraflagellar transport 46 1.12151
SLC41A2 solute carrier family 41 (magnesium transporter), member 2 1.10931
TCTN2 tectonic family member 2 1.09797
CEP76 centrosomal protein 76kDa 1.07488
PKD1 polycystic kidney disease 1 (autosomal dominant) 1.0648
C2CD3 C2 calcium-dependent domain containing 3 1.06186
GON4L gon-4-like (C. elegans) 1.01132
SCAMP3 secretory carrier membrane protein 3 0.966244
CSPP1 centrosome and spindle pole associated protein 1 0.963728
SCLT1 sodium channel and clathrin linker 1 0.954525
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) 0.942443
CYS1 cystin 1 0.893769
IFT172 intraflagellar transport 172 0.878605
EXOC5 exocyst complex component 5 0.838066
MALL mal, T-cell differentiation protein-like 0.831099
INPP5A inositol polyphosphate-5-phosphatase, 40kDa 0.830279
CCDC28B coiled-coil domain containing 28B 0.822488
HNF1B HNF1 homeobox B 0.819206
GLIS3 GLIS family zinc finger 3 0.813462
SNX3 sorting nexin 3 0.804436
PKD2 polycystic kidney disease 2 (autosomal dominant) 0.804026
PACS1 phosphofurin acidic cluster sorting protein 1 0.803205
IFT88 intraflagellar transport 88 0.789672
KIF3A kinesin family member 3A 0.785165
PKD1P6 polycystic kidney disease 1 (autosomal dominant) pseudogene 6 0.782707
RHBG Rh family, B glycoprotein (gene/pseudogene) 0.781479
PARD6A par-6 family cell polarity regulator alpha 0.770027
RGPD1 RANBP2-like and GRIP domain containing 1 0.754527
ANKRD6 ankyrin repeat domain 6 0.734217
HRAS Harvey rat sarcoma viral oncogene homolog 0.72612
CCT3 chaperonin containing TCP1, subunit 3 (gamma) 0.718039
AVPR2 arginine vasopressin receptor 2 0.716021
SRC SRC proto-oncogene, non-receptor tyrosine kinase 0.708767
JADE1 jade family PHD finger 1 0.694301
NR2E1 nuclear receptor subfamily 2, group E, member 1 0.679898
GLI1 GLI family zinc finger 1 0.673518
PRICKLE2 prickle homolog 2 (Drosophila) 0.67113
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1 0.653671
IFT80 intraflagellar transport 80 0.652484
ARL2 ADP-ribosylation factor-like 2 0.640251
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 0.633169
INADL InaD-like (Drosophila) 0.617486
BBS4 Bardet-Biedl syndrome 4 0.616703
DVL1 dishevelled segment polarity protein 1 0.613183
UNC119 unc-119 homolog (C. elegans) 0.608494
ZNF423 zinc finger protein 423 0.590948
TUBE1 tubulin, epsilon 1 0.584719
ARL3 ADP-ribosylation factor-like 3 0.576939
HIF1AN hypoxia inducible factor 1, alpha subunit inhibitor 0.562169
PCM1 pericentriolar material 1 0.561781
FAN1 FANCD2/FANCI-associated nuclease 1 0.547032
PACRG PARK2 co-regulated 0.541217
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta 0.526132
FZD8 frizzled class receptor 8 0.522273
ATXN10 ataxin 10 0.495029
MPP5 membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) 0.493885
ANK1 ankyrin 1, erythrocytic 0.468063
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) 0.437154
RANBP2 RAN binding protein 2 0.435275
TMPRSS4 transmembrane protease, serine 4 0.434148
WWTR1 WW domain containing transcription regulator 1 0.42364
LAP3 leucine aminopeptidase 3 0.41465
TRIM32 tripartite motif containing 32 0.403064
ILK integrin-linked kinase 0.360026
SIX6 SIX homeobox 6 0.359657
BCAR1 breast cancer anti-estrogen resistance 1 0.347511
NIN ninein (GSK3B interacting protein) 0.33944
CENPF centromere protein F, 350/400kDa 0.338341
AIPL1 aryl hydrocarbon receptor interacting protein-like 1 0.324458
POSTN periostin, osteoblast specific factor 0.32373
ANKH ANKH inorganic pyrophosphate transport regulator 0.315003
PAX8 paired box 8 0.31464
PCNT pericentrin 0.311014
EVC Ellis van Creveld protein 0.308842
AQP2 aquaporin 2 (collecting duct) 0.291539
TNS1 tensin 1 0.278654
ARPP21 cAMP-regulated phosphoprotein, 21kDa 0.272241
LGALS9 lectin, galactoside-binding, soluble, 9 0.269753
MKKS McKusick-Kaufman syndrome 0.25877
SNAI1 snail family zinc finger 1 0.243995
PTK2B protein tyrosine kinase 2 beta 0.241546
ALMS1 Alstrom syndrome protein 1 0.241546
TBK1 TANK-binding kinase 1 0.227297
CR2 complement component (3d/Epstein Barr virus) receptor 2 0.220424
CRK v-crk avian sarcoma virus CT10 oncogene homolog 0.215653
NPR1 natriuretic peptide receptor 1 0.214297
BBS1 Bardet-Biedl syndrome 1 0.213283
CDC42 cell division cycle 42 0.211934
MUC1 mucin 1, cell surface associated 0.20229
GUCY2D guanylate cyclase 2D, membrane (retina-specific) 0.201635
PAX2 paired box 2 0.198386
LCN2 lipocalin 2 0.1936
CRB1 crumbs family member 1, photoreceptor morphogenesis associated 0.185016
OCRL oculocerebrorenal syndrome of Lowe 0.178682
IRAK1 interleukin-1 receptor-associated kinase 1 0.176215
RCC1 regulator of chromosome condensation 1 0.170054
CLCN5 chloride channel, voltage-sensitive 5 0.166095
ACTN4 actinin, alpha 4 0.158778
APRT adenine phosphoribosyltransferase 0.157929