Disease table of NEPHRONOPHTHISIS OMIM ID: PS256100

Gene-disease associations table

GeneAssociated with NEPHRONOPHTHISIS inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
TMEM67ClinVar, OMIM, HUMSAVARHGNC link8q22.15PS249000, PS213300, PS256100, 216360, PS209900
CEP164ClinVar, OMIM, HUMSAVARHGNC link11q23.31PS256100
GLIS2ClinVar, OMIMHGNC link16p13.31PS256100
INVSClinVar, OMIM, HUMSAVARHGNC link9q31.11PS256100
TTC21BClinVar, OMIM, HUMSAVARHGNC link2q24.33PS256100, PS208500, PS209900
NEK8ClinVar, OMIM, HUMSAVARHGNC link17q11.22PS256100, PS208540
NPHP3ClinVar, OMIM, HUMSAVARHGNC link3q22.13PS249000, PS208540, PS256100
NPHP1ClinVar, OMIM, HUMSAVARHGNC link2q133PS213300, 266900, PS256100
ZNF423ClinVar, OMIM, HUMSAVARHGNC link16q12.12PS213300, PS256100
ANKS6ClinVar, OMIM, HUMSAVARHGNC link9q22.331PS256100
NPHP4ClinVar, OMIM, HUMSAVARHGNC link1p36.312PS256100, 606996
CEP83ClinVar, OMIM, HUMSAVARHGNC link12q221PS256100
XPNPEP3ClinVar, OMIM, HUMSAVARHGNC link22q13.21PS256100
WDR19ClinVar, OMIM, HUMSAVARHGNC link4p144PS256100, 616307, PS208500, PS218330
DCDC2ClinVar, OMIMHGNC link6p22.32PS220290, PS256100

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
2q2NPHP1, TTC21B
9q2INVS, ANKS6
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
162GLIS2, ZNF423
22NPHP1, TTC21B
92INVS, ANKS6
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
DCDC2YES1EHF0
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
TMEM67CEP164No1PDCD11
TMEM67NPHP1No1PSMD14
CEP164GLIS2No1RBFOX2
CEP164INVSYes2NPHP4, NPHP1
CEP164NEK8No1UBC
CEP164NPHP3Yes1NPHP1
CEP164NPHP1Yes8DBT, NPHP4, CEP128, SRSF2, NPHP1, NPHP3, IDH3B, INVS
CEP164NPHP4Yes4NPHP1, CEP128, CEP89, INVS
CEP164CEP83No1UBC
INVSNPHP3No2NPHP1, CEP164
INVSNPHP1Yes3NPHP4, NPHP1, CEP164
INVSNPHP4Yes3NPHP1, CEP164, DDB1
NEK8NPHP1No8FKBP4, CACYBP, NUDCD3, UXT, PIH1D1, RPAP3, MOB4, UNC45A
NEK8ANKS6Yes0
NEK8NPHP4No15TTC4, STIP1, HSPA1B, AIP, FKBP4, NUDCD2, SUGT1, NUDCD3, HSP90AA1, HSPA6, PIH1D1, HSPA1L, RPAP3, CACYBP, NUDC
NEK8CEP83No1UBC
NPHP3NPHP1Yes2NPHP1, CEP164
NPHP3NPHP4No2NPHP1, CEP164
NPHP1NPHP4Yes12PIH1D1, NUDCD3, NPHP1, CEP128, CACYBP, RPGRIP1L, FKBP4, TUBB, INVS, BAG2, RPAP3, CEP164
ANKS6DCDC2No1APP

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
TMEM67CEP164No-1CEP290
TMEM67INVSNo-2CEP290, B9D2
TMEM67NPHP1No-1AHI1
CEP164INVSNo-1CEP290
CEP164NPHP1No-1PLK1
INVSNPHP3Yesbinding1NPHP1
INVSNPHP1Yesbinding2NPHP3, NPHP4
INVSNPHP4Yesbinding1NPHP1
TTC21BWDR19Yesbinding8WDR35, IFT81, IFT140, IFT27, IFT52, IFT122, IFT43, IFT88
NPHP3NPHP1Yesbinding1INVS
NPHP3NPHP4No-2INVS, NPHP1
NPHP1NPHP4Yesbinding3BCAR1, INVS, RPGRIP1L

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
NEK8NPHP3yes, complexThey are components of a complex containing ANKS6, INVS, NEK8 and NPHP3. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Organelle biogenesis and maintenanceR-HSA-18522414.638NPHP4, WDR19, CEP83, TMEM67, NPHP1, TTC21B, NPHP3, CEP164
Assembly of the primary ciliumR-HSA-56178335.448NPHP4, WDR19, CEP83, TMEM67, NPHP1, TTC21B, NPHP3, CEP164
Anchoring of the basal body to the plasma membraneR-HSA-56209126.515NPHP1, NPHP4, CEP83, CEP164, TMEM67
Signal TransductionR-HSA-1625821.783TTC21B, NPHP4, WDR19
Signaling by HedgehogR-HSA-53583515.792TTC21B, WDR19
Hedgehog 'off' stateR-HSA-56107876.192TTC21B, WDR19
Intraflagellar transportR-HSA-56209247.252TTC21B, WDR19

NET-GE enrichment

Term New enriched termICP valueGenes
Hedgehog 'off' state (R-HSA-5610787) -6.190.008TTC21B, WDR19, NPHP1
Organelle biogenesis and maintenance (R-HSA-1852241) -4.630.0NPHP4, WDR19, CEP83, TMEM67, INVS, NPHP1, TTC21B, NPHP3, CEP164
Anchoring of the basal body to the plasma membrane (R-HSA-5620912) -6.510.0NPHP4, CEP83, TMEM67, INVS, NPHP1, CEP164
Signaling by Hedgehog (R-HSA-5358351) -5.790.03TTC21B, WDR19, NPHP1
Assembly of the primary cilium (R-HSA-5617833) -5.440.0NPHP4, WDR19, CEP83, TMEM67, INVS, NPHP1, TTC21B, NPHP3, CEP164
Intraflagellar transport (R-HSA-5620924) -7.250.023TTC21B, WDR19
Trafficking of myristoylated proteins to the cilium (R-HSA-5624138) NEW10.660.001NPHP3, NPHP1
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.1812XPNPEP3, GLIS2, NPHP4, CEP83, NEK8, TMEM67, ZNF423, DCDC2, INVS, NPHP1, NPHP3, CEP164
protein binding (GO:0005515) 0.4611GLIS2, NPHP4, CEP83, NEK8, TMEM67, ZNF423, DCDC2, INVS, NPHP1, NPHP3, CEP164
cation binding (GO:0043169) 1.44XPNPEP3, GLIS2, ZNF423, NEK8
metal ion binding (GO:0046872) 1.414XPNPEP3, GLIS2, ZNF423, NEK8
ion binding (GO:0043167) 1.364XPNPEP3, GLIS2, ZNF423, NEK8
catalytic activity (GO:0003824) 1.053XPNPEP3, NPHP3, NEK8
heterocyclic compound binding (GO:1901363) 1.063GLIS2, ZNF423, NEK8
organic cyclic compound binding (GO:0097159) 1.053GLIS2, ZNF423, NEK8
hydrolase activity (GO:0016787) 1.92XPNPEP3, NPHP3
structural molecule activity (GO:0005198) 3.12NPHP4, NPHP1
nucleic acid binding (GO:0003676) 1.442GLIS2, ZNF423
DNA binding (GO:0003677) 1.922GLIS2, ZNF423
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.3613GLIS2, NPHP4, WDR19, CEP83, NEK8, TMEM67, ZNF423, DCDC2, INVS, NPHP1, TTC21B, NPHP3, CEP164
single-organism process (GO:0044699) 0.4813GLIS2, NPHP4, WDR19, CEP83, NEK8, TMEM67, ZNF423, DCDC2, INVS, NPHP1, TTC21B, NPHP3, CEP164
cellular process (GO:0009987) 0.2612GLIS2, NPHP4, WDR19, CEP83, NEK8, TMEM67, ZNF423, DCDC2, NPHP1, TTC21B, NPHP3, CEP164
multicellular organismal process (GO:0032501) 1.4511XPNPEP3, GLIS2, NPHP4, WDR19, NEK8, ZNF423, DCDC2, NPHP1, NPHP3, TTC21B, INVS
regulation of cellular process (GO:0050794) 0.511GLIS2, NPHP4, WDR19, NEK8, TMEM67, ZNF423, DCDC2, NPHP1, NPHP3, TTC21B, INVS
single-organism developmental process (GO:0044767) 1.4911GLIS2, WDR19, CEP83, NEK8, TMEM67, ZNF423, INVS, NPHP1, TTC21B, NPHP3, CEP164
biological regulation (GO:0065007) 0.3911GLIS2, NPHP4, WDR19, NEK8, TMEM67, ZNF423, DCDC2, NPHP1, NPHP3, TTC21B, INVS
single-organism cellular process (GO:0044763) 0.6511GLIS2, NPHP4, WDR19, CEP83, TMEM67, ZNF423, DCDC2, NPHP1, TTC21B, NPHP3, CEP164
regulation of biological process (GO:0050789) 0.4511GLIS2, NPHP4, WDR19, NEK8, TMEM67, ZNF423, DCDC2, NPHP1, TTC21B, NPHP3, INVS
anatomical structure development (GO:0048856) 1.5810GLIS2, NPHP4, WDR19, NEK8, ZNF423, DCDC2, NPHP1, NPHP3, TTC21B, INVS
cell projection organization (GO:0030030) 3.149NPHP4, WDR19, CEP83, TMEM67, DCDC2, NPHP1, TTC21B, NPHP3, CEP164
single-multicellular organism process (GO:0044707) 1.789GLIS2, NPHP4, WDR19, NEK8, ZNF423, NPHP1, NPHP3, TTC21B, INVS
cellular component organization or biogenesis (GO:0071840) 1.229NPHP4, WDR19, CEP83, TMEM67, DCDC2, NPHP1, TTC21B, NPHP3, CEP164
cellular component organization (GO:0016043) 1.249NPHP4, WDR19, CEP83, TMEM67, DCDC2, NPHP1, TTC21B, NPHP3, CEP164
regulation of signal transduction (GO:0009966) 1.848GLIS2, NPHP4, NEK8, ZNF423, DCDC2, NPHP3, TTC21B, INVS
regulation of cell communication (GO:0010646) 1.738GLIS2, NPHP4, NEK8, ZNF423, DCDC2, NPHP3, TTC21B, INVS
regulation of response to stimulus (GO:0048583) 1.548GLIS2, NPHP4, NEK8, ZNF423, DCDC2, NPHP3, TTC21B, INVS
signal transduction (GO:0007165) 1.288NPHP4, WDR19, ZNF423, DCDC2, NPHP1, TTC21B, NPHP3, INVS
regulation of signaling (GO:0023051) 1.728GLIS2, NPHP4, NEK8, ZNF423, DCDC2, NPHP3, TTC21B, INVS
cellular developmental process (GO:0048869) 1.827GLIS2, WDR19, TMEM67, ZNF423, NPHP1, NPHP3, TTC21B
organelle organization (GO:0006996) 2.026NPHP4, WDR19, CEP83, TMEM67, NPHP1, CEP164
primary metabolic process (GO:0044238) 0.696XPNPEP3, GLIS2, NEK8, TMEM67, ZNF423, CEP164
macromolecule metabolic process (GO:0043170) 0.836XPNPEP3, GLIS2, NEK8, TMEM67, ZNF423, CEP164
organic substance metabolic process (GO:0071704) 0.636XPNPEP3, GLIS2, NEK8, TMEM67, ZNF423, CEP164
single-organism organelle organization (GO:1902589) 2.686NPHP4, WDR19, CEP83, TMEM67, NPHP1, CEP164
metabolic process (GO:0008152) 0.586XPNPEP3, GLIS2, NEK8, TMEM67, ZNF423, CEP164
negative regulation of biological process (GO:0048519) 1.336GLIS2, NPHP4, TMEM67, ZNF423, NPHP3, INVS
negative regulation of cellular process (GO:0048523) 1.416GLIS2, NPHP4, TMEM67, ZNF423, NPHP3, INVS
cilium organization (GO:0044782) 4.675NPHP4, CEP83, CEP164, TMEM67, WDR19
cellular macromolecule metabolic process (GO:0044260) 0.935GLIS2, ZNF423, TMEM67, CEP164, NEK8
cellular metabolic process (GO:0044237) 0.695GLIS2, ZNF423, CEP164, TMEM67, NEK8
movement of cell or subcellular component (GO:0006928) 2.615NPHP4, NPHP3, DCDC2, TTC21B, WDR19
cell surface receptor signaling pathway (GO:0007166) 2.095NPHP3, ZNF423, TTC21B, WDR19, INVS
system development (GO:0048731) 2.925GLIS2, ZNF423, DCDC2, TTC21B, WDR19
anatomical structure morphogenesis (GO:0009653) 2.535TTC21B, NPHP3, WDR19, TMEM67, NEK8
negative regulation of cell communication (GO:0010648) 2.664GLIS2, NPHP4, NPHP3, INVS
cellular component assembly (GO:0022607) 2.144CEP83, CEP164, TMEM67, WDR19
cell projection morphogenesis (GO:0048858) 4.054TTC21B, NPHP3, WDR19, TMEM67
cilium morphogenesis (GO:0060271) 5.544TTC21B, NPHP3, WDR19, TMEM67
cell projection assembly (GO:0030031) 4.194CEP83, CEP164, TMEM67, WDR19
response to stimulus (GO:0050896) 1.224NPHP4, DCDC2, NPHP1, CEP164
regulation of Wnt signaling pathway (GO:0030111) 3.984DCDC2, NPHP3, NPHP4, INVS
cellular component assembly involved in morphogenesis (GO:0010927) 4.294CEP83, CEP164, TMEM67, WDR19
negative regulation of signaling (GO:0023057) 2.654GLIS2, NPHP4, NPHP3, INVS
negative regulation of response to stimulus (GO:0048585) 2.524NPHP3, NPHP4, GLIS2, INVS
cilium assembly (GO:0042384) 4.774CEP83, CEP164, TMEM67, WDR19
organelle assembly (GO:0070925) 3.754CEP83, CEP164, TMEM67, WDR19
cellular component morphogenesis (GO:0032989) 3.54TTC21B, NPHP3, WDR19, TMEM67
negative regulation of signal transduction (GO:0009968) 2.754NPHP3, NPHP4, GLIS2, INVS
cell part morphogenesis (GO:0032990) 3.994TTC21B, NPHP3, WDR19, TMEM67
multicellular organism development (GO:0007275) 2.544GLIS2, ZNF423, INVS, WDR19
anatomical structure formation involved in morphogenesis (GO:0048646) 3.014CEP83, CEP164, TMEM67, WDR19
system process (GO:0003008) 2.34XPNPEP3, DCDC2, NPHP1, WDR19
regulation of smoothened signaling pathway (GO:0008589) 5.623GLIS2, DCDC2, TTC21B
protein localization (GO:0008104) 2.363TTC21B, WDR19, CEP83
regulation of primary metabolic process (GO:0080090) 1.083GLIS2, ZNF423, TTC21B
regulation of metabolic process (GO:0019222) 1.023GLIS2, ZNF423, TTC21B
regulation of cellular biosynthetic process (GO:0031326) 1.383GLIS2, ZNF423, TTC21B
cell differentiation (GO:0030154) 2.143GLIS2, ZNF423, NPHP1
regulation of cellular metabolic process (GO:0031323) 1.073GLIS2, ZNF423, TTC21B
nucleic acid metabolic process (GO:0090304) 1.463GLIS2, ZNF423, CEP164
cellular nitrogen compound metabolic process (GO:0034641) 1.223GLIS2, ZNF423, CEP164
nitrogen compound metabolic process (GO:0006807) 1.133GLIS2, ZNF423, CEP164
cellular localization (GO:0051641) 2.323TTC21B, WDR19, CEP83
negative regulation of Wnt signaling pathway (GO:0030178) 4.443NPHP3, NPHP4, INVS
organic cyclic compound metabolic process (GO:1901360) 1.263GLIS2, ZNF423, CEP164
nucleobase-containing compound metabolic process (GO:0006139) 1.353GLIS2, ZNF423, CEP164
establishment of localization in cell (GO:0051649) 2.473TTC21B, CEP83, WDR19
cellular macromolecule localization (GO:0070727) 3.13TTC21B, CEP83, WDR19
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.463GLIS2, ZNF423, TTC21B
regulation of macromolecule metabolic process (GO:0060255) 1.083GLIS2, ZNF423, TTC21B
regulation of macromolecule biosynthetic process (GO:0010556) 1.433GLIS2, ZNF423, TTC21B
positive regulation of biological process (GO:0048518) 1.23GLIS2, DCDC2, ZNF423
macromolecule localization (GO:0033036) 2.343TTC21B, CEP83, WDR19
regulation of gene expression (GO:0010468) 1.373GLIS2, ZNF423, TTC21B
negative regulation of canonical Wnt signaling pathway (GO:0090090) 4.633NPHP3, NPHP4, INVS
organ morphogenesis (GO:0009887) 3.553NPHP3, NEK8, WDR19
pattern specification process (GO:0007389) 3.793NPHP3, TTC21B, NEK8
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.433GLIS2, ZNF423, TTC21B
cellular aromatic compound metabolic process (GO:0006725) 1.33GLIS2, ZNF423, CEP164
cellular protein localization (GO:0034613) 3.113TTC21B, CEP83, WDR19
regulation of biosynthetic process (GO:0009889) 1.373GLIS2, ZNF423, TTC21B
regulation of nucleic acid-templated transcription (GO:1903506) 1.553GLIS2, ZNF423, TTC21B
regulation of nitrogen compound metabolic process (GO:0051171) 1.363GLIS2, ZNF423, TTC21B
regulation of RNA biosynthetic process (GO:2001141) 1.553GLIS2, ZNF423, TTC21B
establishment of localization (GO:0051234) 1.483TTC21B, WDR19, CEP83
localization (GO:0051179) 1.43TTC21B, WDR19, CEP83
heterocycle metabolic process (GO:0046483) 1.313GLIS2, ZNF423, CEP164
animal organ development (GO:0048513) 2.533NPHP3, NEK8, WDR19
microtubule-based process (GO:0007017) 3.543NPHP3, TTC21B, WDR19
nervous system development (GO:0007399) 3.533GLIS2, DCDC2, ZNF423
protein metabolic process (GO:0019538) 1.453XPNPEP3, NEK8, TMEM67
regulation of RNA metabolic process (GO:0051252) 1.523GLIS2, ZNF423, TTC21B
microtubule-based movement (GO:0007018) 4.393NPHP3, TTC21B, WDR19
regulation of transcription, DNA-templated (GO:0006355) 1.563GLIS2, ZNF423, TTC21B
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.243GLIS2, ZNF423, TTC21B
regulation of canonical Wnt signaling pathway (GO:0060828) 4.263NPHP3, NPHP4, INVS
positive regulation of cellular process (GO:0048522) 1.33GLIS2, DCDC2, ZNF423
positive regulation of response to stimulus (GO:0048584) 2.182ZNF423, DCDC2
behavior (GO:0007610) 3.472NPHP4, NPHP1
organic cyclic compound biosynthetic process (GO:1901362) 1.662GLIS2, ZNF423
cell surface receptor signaling pathway involved in cell-cell signaling (GO:1905114) 3.792NPHP3, INVS
negative regulation of macromolecule metabolic process (GO:0010605) 2.012GLIS2, ZNF423
positive regulation of macromolecule metabolic process (GO:0010604) 1.812GLIS2, ZNF423
positive regulation of signal transduction (GO:0009967) 2.52ZNF423, DCDC2
determination of left/right symmetry (GO:0007368) 5.382NPHP3, NEK8
establishment of protein localization (GO:0045184) 2.532TTC21B, WDR19
developmental process involved in reproduction (GO:0003006) 3.362NPHP1, WDR19
establishment of localization by movement along microtubule (GO:0010970) 5.142TTC21B, WDR19
protein complex localization (GO:0031503) 5.622TTC21B, WDR19
single organism reproductive process (GO:0044702) 2.732WDR19, NPHP1
cell motility (GO:0048870) 3.022DCDC2, NPHP4
single-organism behavior (GO:0044708) 3.792NPHP4, NPHP1
Wnt signaling pathway (GO:0016055) 3.882NPHP3, INVS
aromatic compound biosynthetic process (GO:0019438) 1.72GLIS2, ZNF423
photoreceptor cell maintenance (GO:0045494) 6.172NPHP3, NPHP4
visual behavior (GO:0007632) 5.822NPHP4, NPHP1
negative regulation of metabolic process (GO:0009892) 1.932GLIS2, ZNF423
positive regulation of metabolic process (GO:0009893) 1.742GLIS2, ZNF423
negative regulation of biosynthetic process (GO:0009890) 2.472GLIS2, ZNF423
positive regulation of biosynthetic process (GO:0009891) 2.292GLIS2, ZNF423
negative regulation of gene expression (GO:0010629) 2.482GLIS2, ZNF423
positive regulation of gene expression (GO:0010628) 2.352GLIS2, ZNF423
intracellular signal transduction (GO:0035556) 2.392DCDC2, NPHP4
nucleic acid-templated transcription (GO:0097659) 1.912GLIS2, ZNF423
organic substance biosynthetic process (GO:1901576) 1.342GLIS2, ZNF423
intracellular protein transport (GO:0006886) 3.22TTC21B, WDR19
cell-cell adhesion (GO:0098609) 3.342NPHP4, NPHP1
protein transport along microtubule (GO:0098840) 6.432TTC21B, WDR19
heterocycle biosynthetic process (GO:0018130) 1.72GLIS2, ZNF423
single organism cell adhesion (GO:0098602) 3.632NPHP4, NPHP1
regulation of developmental process (GO:0050793) 2.12NPHP3, DCDC2
transport (GO:0006810) 1.512TTC21B, WDR19
response to stress (GO:0006950) 1.82DCDC2, CEP164
nucleobase-containing compound biosynthetic process (GO:0034654) 1.722GLIS2, ZNF423
RNA metabolic process (GO:0016070) 1.592GLIS2, ZNF423
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592GLIS2, ZNF423
intracellular transport (GO:0046907) 2.672TTC21B, WDR19
smoothened signaling pathway (GO:0007224) 5.452TTC21B, WDR19
single-organism transport (GO:0044765) 2.182TTC21B, WDR19
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.392GLIS2, ZNF423
transcription, DNA-templated (GO:0006351) 1.912GLIS2, ZNF423
negative regulation of macromolecule biosynthetic process (GO:0010558) 2.532GLIS2, ZNF423
RNA biosynthetic process (GO:0032774) 1.842GLIS2, ZNF423
regulation of organelle organization (GO:0033043) 2.722DCDC2, TMEM67
response to radiation (GO:0009314) 3.692NPHP4, NPHP1
intraciliary transport (GO:0042073) 6.432TTC21B, WDR19
regulation of cellular component organization (GO:0051128) 2.012DCDC2, TMEM67
positive regulation of signaling (GO:0023056) 2.412ZNF423, DCDC2
cellular biosynthetic process (GO:0044249) 1.372GLIS2, ZNF423
response to light stimulus (GO:0009416) 4.082NPHP4, NPHP1
retina development in camera-type eye (GO:0060041) 5.512NPHP4, NPHP1
cellular macromolecule biosynthetic process (GO:0034645) 1.662GLIS2, ZNF423
specification of symmetry (GO:0009799) 5.362NPHP3, NEK8
positive regulation of cell communication (GO:0010647) 2.412ZNF423, DCDC2
regulation of anatomical structure morphogenesis (GO:0022603) 2.792NPHP3, DCDC2
cytoskeleton-dependent intracellular transport (GO:0030705) 4.962TTC21B, WDR19
proteolysis (GO:0006508) 2.732XPNPEP3, TMEM67
biological adhesion (GO:0022610) 2.812NPHP4, NPHP1
positive regulation of nucleic acid-templated transcription (GO:1903508) 2.562GLIS2, ZNF423
neurological system process (GO:0050877) 2.642DCDC2, WDR19
negative regulation of nucleic acid-templated transcription (GO:1903507) 2.712GLIS2, ZNF423
negative regulation of transcription, DNA-templated (GO:0045892) 2.752GLIS2, ZNF423
positive regulation of transcription, DNA-templated (GO:0045893) 2.562GLIS2, ZNF423
negative regulation of RNA metabolic process (GO:0051253) 2.662GLIS2, ZNF423
positive regulation of RNA metabolic process (GO:0051254) 2.512GLIS2, ZNF423
positive regulation of RNA biosynthetic process (GO:1902680) 2.542GLIS2, ZNF423
protein localization to organelle (GO:0033365) 3.572TTC21B, CEP83
single organismal cell-cell adhesion (GO:0016337) 3.692NPHP4, NPHP1
positive regulation of cellular biosynthetic process (GO:0031328) 2.32GLIS2, ZNF423
negative regulation of cellular biosynthetic process (GO:0031327) 2.492GLIS2, ZNF423
positive regulation of cellular metabolic process (GO:0031325) 1.812GLIS2, ZNF423
negative regulation of cellular metabolic process (GO:0031324) 2.012GLIS2, ZNF423
actin cytoskeleton organization (GO:0030036) 4.12NPHP4, NPHP1
negative regulation of cellular macromolecule biosynthetic process (GO:2000113) 2.62GLIS2, ZNF423
intraciliary retrograde transport (GO:0035721) 7.532TTC21B, WDR19
organic substance transport (GO:0071702) 2.152TTC21B, WDR19
embryonic morphogenesis (GO:0048598) 3.722NPHP3, WDR19
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.352GLIS2, ZNF423
negative regulation of nucleobase-containing compound metabolic process (GO:0045934) 2.552GLIS2, ZNF423
actin filament-based process (GO:0030029) 3.942NPHP4, NPHP1
negative regulation of RNA biosynthetic process (GO:1902679) 2.72GLIS2, ZNF423
reproductive process (GO:0022414) 2.552NPHP1, WDR19
biosynthetic process (GO:0009058) 1.322GLIS2, ZNF423
macromolecule biosynthetic process (GO:0009059) 1.612GLIS2, ZNF423
negative regulation of nitrogen compound metabolic process (GO:0051172) 2.472GLIS2, ZNF423
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.292GLIS2, ZNF423
cell adhesion (GO:0007155) 2.822NPHP4, NPHP1
single-organism localization (GO:1902578) 2.092TTC21B, WDR19
locomotion (GO:0040011) 2.912NPHP4, DCDC2
response to abiotic stimulus (GO:0009628) 2.82NPHP4, NPHP1
cytoskeleton organization (GO:0007010) 3.222NPHP4, NPHP1
determination of bilateral symmetry (GO:0009855) 5.372NPHP3, NEK8
protein transport (GO:0015031) 2.622TTC21B, WDR19
single-organism intracellular transport (GO:1902582) 3.592TTC21B, WDR19
single-organism cellular localization (GO:1902580) 3.162TTC21B, WDR19

NET-GE enrichment

Term New enriched termICP valueGenes
developmental process (GO:0032502) -1.360.0GLIS2, NPHP4, WDR19, CEP83, NEK8, TMEM67, ZNF423, DCDC2, INVS, NPHP1, TTC21B, NPHP3, CEP164
visual behavior (GO:0007632) -5.820.002DCDC2, NPHP4, NPHP1
cell projection organization (GO:0030030) -3.140.001NPHP4, WDR19, CEP83, TMEM67, DCDC2, INVS, NPHP1, NPHP3, CEP164
cell projection assembly (GO:0030031) -4.190.006NPHP4, WDR19, CEP83, TMEM67, INVS, NPHP1, CEP164
intraciliary transport (GO:0042073) -6.430.003TTC21B, INVS, WDR19
cellular component assembly involved in morphogenesis (GO:0010927) -4.290.0NPHP4, WDR19, CEP83, TMEM67, INVS, NPHP1, CEP164
establishment or maintenance of cell polarity (GO:0007163) NEW5.00.002NPHP3, NPHP4, NPHP1, TMEM67, INVS
determination of digestive tract left/right asymmetry (GO:0071907) NEW7.780.025NPHP3, INVS
negative regulation of Wnt signaling pathway (GO:0030178) -4.440.04NPHP3, NPHP4, INVS
regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095) NEW7.240.0NPHP3, INVS, NPHP1
cellular macromolecule localization (GO:0070727) -3.10.019TTC21B, NPHP1, CEP83, WDR19
microtubule-based movement (GO:0007018) -4.390.007TTC21B, NPHP3, NPHP1, INVS, WDR19
intraciliary retrograde transport (GO:0035721) -7.530.007TTC21B, WDR19
negative regulation of canonical Wnt signaling pathway (GO:0090090) -4.630.014NPHP3, NPHP4, INVS, NPHP1
cilium assembly (GO:0042384) -4.770.001NPHP4, WDR19, CEP83, TMEM67, INVS, NPHP1, CEP164
cilium morphogenesis (GO:0060271) -5.540.0NPHP3, NPHP1, TMEM67, INVS
cellular protein localization (GO:0034613) -3.110.018NPHP1, TTC21B, CEP83, WDR19
single-organism developmental process (GO:0044767) -1.490.0GLIS2, WDR19, CEP83, NEK8, TMEM67, ZNF423, DCDC2, INVS, NPHP1, TTC21B, NPHP3, CEP164
atrial septum development (GO:0003283) NEW7.780.009NPHP3, NPHP1
organelle assembly (GO:0070925) -3.750.001NPHP4, WDR19, CEP83, TMEM67, INVS, NPHP1, CEP164
cellular localization (GO:0051641) -2.320.038NPHP1, TTC21B, CEP83, WDR19
determination of liver left/right asymmetry (GO:0071910) NEW7.940.007NPHP3, NPHP1
regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167) NEW9.730.001NPHP3, INVS
cilium organization (GO:0044782) -4.670.0NPHP4, WDR19, CEP83, TMEM67, INVS, NPHP1, CEP164
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular part (GO:0044424) 0.2815XPNPEP3, GLIS2, NPHP4, WDR19, CEP83, ANKS6, NEK8, TMEM67, ZNF423, DCDC2, INVS, NPHP1, TTC21B, NPHP3, CEP164
cell part (GO:0044464) 0.1115XPNPEP3, GLIS2, NPHP4, WDR19, CEP83, ANKS6, NEK8, TMEM67, ZNF423, DCDC2, INVS, NPHP1, TTC21B, NPHP3, CEP164
organelle (GO:0043226) 0.415XPNPEP3, GLIS2, NPHP4, WDR19, CEP83, ANKS6, NEK8, TMEM67, ZNF423, DCDC2, INVS, NPHP1, TTC21B, NPHP3, CEP164
intracellular organelle (GO:0043229) 0.5113XPNPEP3, GLIS2, NPHP4, WDR19, CEP83, NEK8, TMEM67, ZNF423, DCDC2, INVS, NPHP1, TTC21B, CEP164
cytoplasm (GO:0005737) 1.0112GLIS2, NPHP4, WDR19, CEP83, ANKS6, NEK8, TMEM67, DCDC2, INVS, NPHP1, TTC21B, CEP164
organelle part (GO:0044422) 0.7911GLIS2, NPHP4, CEP83, NEK8, TMEM67, DCDC2, INVS, WDR19, TTC21B, NPHP3, CEP164
cytoskeleton (GO:0005856) 2.5510NPHP4, WDR19, CEP83, NEK8, TMEM67, DCDC2, INVS, NPHP1, TTC21B, CEP164
intracellular non-membrane-bounded organelle (GO:0043232) 1.7610NPHP4, WDR19, CEP83, NEK8, TMEM67, DCDC2, INVS, NPHP1, TTC21B, CEP164
intracellular organelle part (GO:0044446) 0.8110GLIS2, NPHP4, CEP83, TMEM67, DCDC2, INVS, WDR19, TTC21B, NPHP3, CEP164
non-membrane-bounded organelle (GO:0043228) 1.7610NPHP4, WDR19, CEP83, NEK8, TMEM67, DCDC2, INVS, NPHP1, TTC21B, CEP164
cilium (GO:0005929) 3.8910NPHP4, WDR19, NEK8, TMEM67, DCDC2, ANKS6, NPHP1, TTC21B, NPHP3, INVS
cell projection (GO:0042995) 2.4710NPHP4, WDR19, NEK8, TMEM67, DCDC2, ANKS6, NPHP1, TTC21B, NPHP3, INVS
cell projection part (GO:0044463) 2.978NPHP4, CEP83, NEK8, TMEM67, DCDC2, WDR19, TTC21B, CEP164
membrane-bounded organelle (GO:0043227) 0.478XPNPEP3, GLIS2, CEP83, TMEM67, ZNF423, DCDC2, INVS, CEP164
intracellular membrane-bounded organelle (GO:0043231) 0.68XPNPEP3, GLIS2, CEP83, TMEM67, ZNF423, DCDC2, INVS, CEP164
ciliary part (GO:0044441) 4.058NPHP4, CEP83, NEK8, TMEM67, DCDC2, WDR19, TTC21B, CEP164
cytoplasmic part (GO:0044444) 0.827XPNPEP3, NPHP4, CEP83, TMEM67, NPHP1, NPHP3, CEP164
cytoskeletal part (GO:0044430) 2.497NPHP4, CEP83, TMEM67, DCDC2, INVS, NPHP3, CEP164
primary cilium (GO:0072372) 4.647NPHP4, WDR19, NEK8, DCDC2, NPHP1, TTC21B, NPHP3
protein complex (GO:0043234) 1.516CEP83, TMEM67, WDR19, TTC21B, NPHP3, CEP164
macromolecular complex (GO:0032991) 1.356CEP83, TMEM67, WDR19, TTC21B, NPHP3, CEP164
cytosol (GO:0005829) 1.685NPHP1, NPHP3, NPHP4, CEP83, CEP164
membrane (GO:0016020) 0.685WDR19, NPHP4, NPHP1, TMEM67, INVS
nucleus (GO:0005634) 1.075GLIS2, ZNF423, DCDC2, INVS, CEP164
nuclear part (GO:0044428) 1.554TTC21B, GLIS2, WDR19, CEP164
nonmotile primary cilium (GO:0031513) 5.144NPHP4, DCDC2, WDR19, NPHP1
centrosome (GO:0005813) 3.753NPHP4, CEP164, TMEM67
photoreceptor connecting cilium (GO:0032391) 6.283NPHP4, NPHP1, WDR19
microtubule organizing center (GO:0005815) 3.423NPHP4, CEP164, TMEM67
ciliary transition zone (GO:0035869) 6.622NPHP4, TMEM67
intraciliary transport particle A (GO:0030991) 7.722TTC21B, WDR19
motile cilium (GO:0031514) 5.362WDR19, NPHP1
occluding junction (GO:0070160) 5.072NPHP4, NPHP1
centriole (GO:0005814) 5.152CEP83, CEP164
bicellular tight junction (GO:0005923) 5.092NPHP4, NPHP1
nucleoplasm (GO:0005654) 1.892WDR19, CEP164
ciliary tip (GO:0097542) 6.042TTC21B, WDR19
ciliary base (GO:0097546) 6.672NEK8, NPHP4
cell-cell junction (GO:0005911) 3.852NPHP4, NPHP1
plasma membrane (GO:0005886) 1.392WDR19, TMEM67
ciliary transition fiber (GO:0097539) 7.612CEP83, CEP164
extracellular region part (GO:0044421) 1.572XPNPEP3, CEP164
cell junction (GO:0030054) 2.752NPHP4, NPHP1
microtubule organizing center part (GO:0044450) 4.82CEP83, CEP164

NET-GE enrichment

Term New enriched termICP valueGenes
cytoskeleton (GO:0005856) -2.550.01TTC21B, NPHP4, NPHP1, WDR19, NEK8
photoreceptor connecting cilium (GO:0032391) -6.280.05NPHP1, WDR19
primary cilium (GO:0072372) -4.640.0NPHP4, WDR19, NEK8, NPHP1, NPHP3, INVS
intracellular non-membrane-bounded organelle (GO:0043232) -1.760.001NPHP4, WDR19, CEP83, NEK8, TMEM67, INVS, NPHP1, TTC21B, CEP164
motile cilium (GO:0031514) -5.360.039NPHP4, WDR19, NPHP1
cilium (GO:0005929) -3.890.0NPHP4, WDR19, NEK8, ANKS6, CEP164, NPHP1, TTC21B, NPHP3, INVS
intraciliary transport particle A (GO:0030991) -7.720.002TTC21B, WDR19
nonmotile primary cilium (GO:0031513) -5.140.001NPHP4, WDR19, NPHP1
non-membrane-bounded organelle (GO:0043228) -1.760.001NPHP4, WDR19, CEP83, NEK8, TMEM67, INVS, NPHP1, TTC21B, CEP164
ciliary part (GO:0044441) -4.050.017NPHP1, NPHP4, CEP83, CEP164, TMEM67
cell projection (GO:0042995) -2.470.004NPHP4, WDR19, ANKS6, NEK8, TMEM67, INVS, NPHP1, TTC21B, NPHP3, CEP164
organelle (GO:0043226) -0.40.035XPNPEP3, GLIS2, NPHP4, WDR19, CEP83, ANKS6, NEK8, TMEM67, ZNF423, INVS, NPHP1, TTC21B, NPHP3, CEP164
ciliary transition fiber (GO:0097539) -7.610.002CEP83, CEP164