Disease table of EXUDATIVE VITREORETINOPATHY OMIM ID: PS133780

Gene-disease associations table

GeneAssociated with EXUDATIVE VITREORETINOPATHY inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
FZD4ClinVar, OMIM, HUMSAVARHGNC link11q14.21PS133780
LRP5OMIM, HUMSAVARHGNC link11q13.29144750, 166710, PS133780, PS174050, 601884, 173900, 607636, 259770, PS607634
TSPAN12ClinVar, OMIM, HUMSAVARHGNC link7q31.311PS133780
PRSS23ClinVarHGNC link11q14.21PS133780
ZNF408ClinVar, OMIM, HUMSAVARHGNC link11p11.22PS133780, PS268000
NDPClinVar, OMIM, HUMSAVARHGNC linkXp11.32PS133780, 310600

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
11q14.22FZD4, PRSS23
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
11q142FZD4, PRSS23
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
11q13FZD4, PRSS23, LRP5
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
11q3FZD4, PRSS23, LRP5
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
114FZD4, PRSS23, LRP5, ZNF408
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
LRP5YES4SP1, VDR, KLF15, RUNX20
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
FZD4NDPYes1NDP
PRSS23NDPNo1APP

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
FZD4LRP5Yesbinding21WNT5B, WNT16, WNT2B, WNT4, WNT3A, DVL2, WNT2, CDH1, WNT8B, FZD8, WNT3, DVL1, WNT1, WNT8A, FZD2, WNT7A, ROR2, WNT7B, DVL3, WNT5A, LRP6
FZD4NDPYesbinding0
LRP5NDPNo-1FZD4

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

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Gene1Gene2InteractionNumber of common interactorsCommon genes in interaction
FZD4NDPYes2NDP, FZD4

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

Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Wnt signaling pathwayhsa043105.492LRP5, FZD4

NET-GE enrichment

Term New enriched termICP valueGenes
Hippo signaling pathway (hsa04390) NEW5.370.042LRP5, FZD4
Wnt signaling pathway (hsa04310) -5.490.028LRP5, FZD4
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Signaling by WntR-HSA-1957214.792LRP5, FZD4
RNF mutants show enhanced WNT signaling and proliferationR-HSA-53405889.982LRP5, FZD4
Diseases of signal transductionR-HSA-56632024.892LRP5, FZD4
Signaling by WNT in cancerR-HSA-47912757.892LRP5, FZD4
DiseaseR-HSA-16436853.332LRP5, FZD4
TCF dependent signaling in response to WNTR-HSA-2016815.362LRP5, FZD4
regulation of FZD by ubiquitinationR-HSA-46412638.592LRP5, FZD4
Signal TransductionR-HSA-1625821.782LRP5, FZD4

NET-GE enrichment

Term New enriched termICP valueGenes
Class B/2 (Secretin family receptors) (R-HSA-373080) NEW6.520.006LRP5, FZD4
Signaling by Wnt (R-HSA-195721) -4.790.026LRP5, FZD4
RNF mutants show enhanced WNT signaling and proliferation (R-HSA-5340588) -9.980.0LRP5, FZD4
Diseases of signal transduction (R-HSA-5663202) -4.890.023LRP5, FZD4
Signaling by WNT in cancer (R-HSA-4791275) -7.890.0LRP5, FZD4
PCP/CE pathway (R-HSA-4086400) NEW6.470.004LRP5, FZD4
TCF dependent signaling in response to WNT (R-HSA-201681) -5.360.012LRP5, FZD4
regulation of FZD by ubiquitination (R-HSA-4641263) -8.590.0LRP5, FZD4
beta-catenin independent WNT signaling (R-HSA-3858494) NEW5.830.016LRP5, FZD4
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.185NDP, ZNF408, FZD4, TSPAN12, LRP5
protein binding (GO:0005515) 0.465NDP, ZNF408, FZD4, TSPAN12, LRP5
signaling receptor activity (GO:0038023) 2.493LRP5, FZD4, TSPAN12
Wnt-activated receptor activity (GO:0042813) 6.653LRP5, FZD4, TSPAN12
molecular transducer activity (GO:0060089) 2.323LRP5, FZD4, TSPAN12
transmembrane signaling receptor activity (GO:0004888) 2.573LRP5, FZD4, TSPAN12
receptor activity (GO:0004872) 2.323LRP5, FZD4, TSPAN12
signal transducer activity (GO:0004871) 2.283LRP5, FZD4, TSPAN12
transmembrane receptor activity (GO:0099600) 2.533LRP5, FZD4, TSPAN12
identical protein binding (GO:0042802) 2.633NDP, ZNF408, FZD4
Wnt-protein binding (GO:0017147) 6.32LRP5, FZD4
protein dimerization activity (GO:0046983) 2.722NDP, FZD4
protein homodimerization activity (GO:0042803) 3.162NDP, FZD4

NET-GE enrichment

Term New enriched termICP valueGenes
Wnt-activated receptor activity (GO:0042813) -6.650.002LRP5, FZD4
G-protein coupled receptor binding (GO:0001664) NEW4.180.035NDP, LRP5, FZD4
frizzled binding (GO:0005109) NEW6.10.012NDP, FZD4
Wnt-protein binding (GO:0017147) -6.30.001LRP5, FZD4
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
biological regulation (GO:0065007) 0.395NDP, ZNF408, FZD4, TSPAN12, LRP5
regulation of biological process (GO:0050789) 0.455NDP, ZNF408, FZD4, TSPAN12, LRP5
regulation of cellular process (GO:0050794) 0.55NDP, ZNF408, FZD4, TSPAN12, LRP5
developmental process (GO:0032502) 1.364NDP, LRP5, FZD4, TSPAN12
regulation of RNA metabolic process (GO:0051252) 1.524NDP, ZNF408, LRP5, FZD4
regulation of primary metabolic process (GO:0080090) 1.084NDP, ZNF408, LRP5, FZD4
regulation of metabolic process (GO:0019222) 1.024NDP, ZNF408, LRP5, FZD4
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.434NDP, ZNF408, LRP5, FZD4
regulation of biosynthetic process (GO:0009889) 1.374NDP, ZNF408, LRP5, FZD4
regulation of cellular metabolic process (GO:0031323) 1.074NDP, ZNF408, LRP5, FZD4
cellular process (GO:0009987) 0.264NDP, ZNF408, LRP5, FZD4
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.464NDP, ZNF408, LRP5, FZD4
regulation of nucleic acid-templated transcription (GO:1903506) 1.554NDP, ZNF408, LRP5, FZD4
regulation of gene expression (GO:0010468) 1.374NDP, ZNF408, LRP5, FZD4
single-organism developmental process (GO:0044767) 1.494NDP, LRP5, FZD4, TSPAN12
regulation of transcription, DNA-templated (GO:0006355) 1.564NDP, ZNF408, LRP5, FZD4
regulation of macromolecule biosynthetic process (GO:0010556) 1.434NDP, ZNF408, LRP5, FZD4
signal transduction (GO:0007165) 1.284NDP, LRP5, FZD4, TSPAN12
cell surface receptor signaling pathway (GO:0007166) 2.094NDP, LRP5, FZD4, TSPAN12
regulation of RNA biosynthetic process (GO:2001141) 1.554NDP, ZNF408, LRP5, FZD4
regulation of macromolecule metabolic process (GO:0060255) 1.084NDP, ZNF408, LRP5, FZD4
regulation of cellular biosynthetic process (GO:0031326) 1.384NDP, ZNF408, LRP5, FZD4
single-organism process (GO:0044699) 0.484NDP, LRP5, FZD4, TSPAN12
regulation of nitrogen compound metabolic process (GO:0051171) 1.364NDP, ZNF408, LRP5, FZD4
anatomical structure development (GO:0048856) 1.583NDP, LRP5, FZD4
positive regulation of metabolic process (GO:0009893) 1.743NDP, LRP5, FZD4
positive regulation of biosynthetic process (GO:0009891) 2.293NDP, LRP5, FZD4
positive regulation of cellular metabolic process (GO:0031325) 1.813NDP, LRP5, FZD4
metabolic process (GO:0008152) 0.583LRP5, ZNF408, PRSS23
positive regulation of gene expression (GO:0010628) 2.353NDP, LRP5, FZD4
signaling (GO:0023052) 3.253NDP, LRP5, FZD4
anatomical structure morphogenesis (GO:0009653) 2.533NDP, LRP5, FZD4
cell surface receptor signaling pathway involved in cell-cell signaling (GO:1905114) 3.793NDP, LRP5, FZD4
cellular component organization or biogenesis (GO:0071840) 1.223NDP, LRP5, FZD4
positive regulation of macromolecule metabolic process (GO:0010604) 1.813NDP, LRP5, FZD4
positive regulation of cellular biosynthetic process (GO:0031328) 2.33NDP, LRP5, FZD4
cellular component organization (GO:0016043) 1.243NDP, LRP5, FZD4
organic substance metabolic process (GO:0071704) 0.633LRP5, ZNF408, PRSS23
positive regulation of molecular function (GO:0044093) 2.233NDP, LRP5, FZD4
positive regulation of biological process (GO:0048518) 1.23NDP, LRP5, FZD4
regulation of molecular function (GO:0065009) 1.783NDP, LRP5, FZD4
positive regulation of nucleic acid-templated transcription (GO:1903508) 2.563NDP, LRP5, FZD4
multicellular organismal process (GO:0032501) 1.453NDP, LRP5, FZD4
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.353NDP, LRP5, FZD4
primary metabolic process (GO:0044238) 0.693PRSS23, ZNF408, LRP5
extracellular matrix-cell signaling (GO:0035426) 8.123NDP, LRP5, FZD4
canonical Wnt signaling pathway (GO:0060070) 5.263NDP, LRP5, FZD4
single-organism cellular process (GO:0044763) 0.653NDP, LRP5, FZD4
positive regulation of transcription, DNA-templated (GO:0045893) 2.563NDP, LRP5, FZD4
regulation of multicellular organismal process (GO:0051239) 1.873LRP5, FZD4, TSPAN12
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.293NDP, LRP5, FZD4
cell communication (GO:0007154) 3.043NDP, LRP5, FZD4
retina vasculature morphogenesis in camera-type eye (GO:0061299) 7.533NDP, LRP5, FZD4
single organism signaling (GO:0044700) 3.253NDP, LRP5, FZD4
positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091) 4.293NDP, LRP5, FZD4
regulation of sequence-specific DNA binding transcription factor activity (GO:0051090) 3.833NDP, LRP5, FZD4
Wnt signaling pathway (GO:0016055) 3.883NDP, LRP5, FZD4
positive regulation of RNA metabolic process (GO:0051254) 2.513NDP, LRP5, FZD4
positive regulation of RNA biosynthetic process (GO:1902680) 2.543NDP, LRP5, FZD4
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.393NDP, LRP5, FZD4
positive regulation of cellular process (GO:0048522) 1.33NDP, LRP5, FZD4
retinal blood vessel morphogenesis (GO:0061304) 8.342LRP5, FZD4
regulation of phosphate metabolic process (GO:0019220) 2.352LRP5, FZD4
regulation of anatomical structure morphogenesis (GO:0022603) 2.792FZD4, TSPAN12
regulation of response to stimulus (GO:0048583) 1.542LRP5, FZD4
regulation of Wnt signaling pathway (GO:0030111) 3.982LRP5, FZD4
regulation of signaling (GO:0023051) 1.722LRP5, FZD4
regulation of protein serine/threonine kinase activity (GO:0071900) 3.582LRP5, FZD4
multicellular organism development (GO:0007275) 2.542LRP5, FZD4
organic cyclic compound metabolic process (GO:1901360) 1.262ZNF408, LRP5
regulation of cell communication (GO:0010646) 1.732LRP5, FZD4
regulation of signal transduction (GO:0009966) 1.842LRP5, FZD4
cellular developmental process (GO:0048869) 1.822LRP5, FZD4
regulation of kinase activity (GO:0043549) 3.072LRP5, FZD4
regulation of protein metabolic process (GO:0051246) 1.932LRP5, FZD4
sensory perception of sound (GO:0007605) 4.822NDP, FZD4
animal organ development (GO:0048513) 2.532NDP, LRP5
blood vessel morphogenesis (GO:0048514) 5.322LRP5, FZD4
transport (GO:0006810) 1.512LRP5, FZD4
regulation of protein modification process (GO:0031399) 2.322LRP5, FZD4
negative regulation of biological process (GO:0048519) 1.332LRP5, FZD4
sensory perception of mechanical stimulus (GO:0050954) 4.792NDP, FZD4
regulation of biological quality (GO:0065008) 1.682LRP5, FZD4
locomotion (GO:0040011) 2.912LRP5, FZD4
regulation of protein kinase activity (GO:0045859) 3.152LRP5, FZD4
regulation of developmental process (GO:0050793) 2.12FZD4, TSPAN12
neurological system process (GO:0050877) 2.642NDP, FZD4
regulation of catalytic activity (GO:0050790) 1.972LRP5, FZD4
sensory perception (GO:0007600) 2.932NDP, FZD4
regulation of hormone levels (GO:0010817) 3.562LRP5, FZD4
regulation of phosphorus metabolic process (GO:0051174) 2.352LRP5, FZD4
reproductive process (GO:0022414) 2.552NDP, FZD4
regulation of cellular protein metabolic process (GO:0032268) 1.992LRP5, FZD4
cell-cell signaling (GO:0007267) 3.352NDP, LRP5
establishment of localization (GO:0051234) 1.482LRP5, FZD4
localization (GO:0051179) 1.42LRP5, FZD4
system process (GO:0003008) 2.32NDP, FZD4
regulation of phosphorylation (GO:0042325) 2.52LRP5, FZD4
single organism reproductive process (GO:0044702) 2.732NDP, FZD4
single-multicellular organism process (GO:0044707) 1.782LRP5, FZD4
response to stimulus (GO:0050896) 1.222NDP, FZD4
regulation of transferase activity (GO:0051338) 2.882LRP5, FZD4
macromolecule metabolic process (GO:0043170) 0.832ZNF408, PRSS23
regulation of multicellular organismal development (GO:2000026) 2.312FZD4, TSPAN12
system development (GO:0048731) 2.922NDP, LRP5
regulation of protein phosphorylation (GO:0001932) 2.572LRP5, FZD4
negative regulation of cellular process (GO:0048523) 1.412LRP5, FZD4

NET-GE enrichment

Term New enriched termICP valueGenes
retinal blood vessel morphogenesis (GO:0061304) -8.340.001LRP5, FZD4
positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091) -4.290.011NDP, LRP5, FZD4
regulation of sequence-specific DNA binding transcription factor activity (GO:0051090) -3.830.044NDP, LRP5, FZD4
Wnt signaling pathway (GO:0016055) -3.880.016NDP, ZNF408, LRP5, FZD4
extracellular matrix-cell signaling (GO:0035426) -8.120.0NDP, LRP5, FZD4
canonical Wnt signaling pathway (GO:0060070) -5.260.001NDP, ZNF408, LRP5, FZD4
apoptotic process involved in morphogenesis (GO:0060561) NEW6.960.035LRP5, FZD4
retina vasculature morphogenesis in camera-type eye (GO:0061299) -7.530.0NDP, LRP5, FZD4
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.116NDP, PRSS23, ZNF408, TSPAN12, LRP5, FZD4
intracellular part (GO:0044424) 0.284PRSS23, ZNF408, LRP5, FZD4
membrane-bounded organelle (GO:0043227) 0.474LRP5, ZNF408, PRSS23, FZD4
organelle (GO:0043226) 0.44LRP5, ZNF408, PRSS23, FZD4
intracellular membrane-bounded organelle (GO:0043231) 0.63PRSS23, ZNF408, LRP5
integral component of membrane (GO:0016021) 1.143LRP5, FZD4, TSPAN12
membrane (GO:0016020) 0.683LRP5, FZD4, TSPAN12
intracellular organelle (GO:0043229) 0.513LRP5, ZNF408, PRSS23
plasma membrane (GO:0005886) 1.393LRP5, FZD4, TSPAN12
membrane part (GO:0044425) 0.953LRP5, FZD4, TSPAN12
plasma membrane part (GO:0044459) 1.953LRP5, FZD4, TSPAN12
extracellular region part (GO:0044421) 1.573NDP, PRSS23, FZD4
intrinsic component of membrane (GO:0031224) 1.133LRP5, FZD4, TSPAN12
extracellular organelle (GO:0043230) 1.892PRSS23, FZD4
vesicle (GO:0031982) 1.642PRSS23, FZD4
nucleus (GO:0005634) 1.072ZNF408, PRSS23
membrane-bounded vesicle (GO:0031988) 1.712PRSS23, FZD4
cytoplasmic part (GO:0044444) 0.822LRP5, FZD4
extracellular region (GO:0005576) 2.182NDP, PRSS23
integral component of plasma membrane (GO:0005887) 2.572FZD4, TSPAN12
extracellular vesicle (GO:1903561) 1.892PRSS23, FZD4
intrinsic component of plasma membrane (GO:0031226) 2.532FZD4, TSPAN12
cell surface (GO:0009986) 3.442NDP, FZD4
extracellular exosome (GO:0070062) 1.892PRSS23, FZD4