Disease table of CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS OMIM ID: PS122000

Gene-disease associations table

GeneAssociated with CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
COL8A2ClinVar, OMIM, HUMSAVARHGNC link1p34.32PS122000, PS136800
ZEB1ClinVar, OMIMHGNC link10p11.222PS122000, PS136800
VSX1ClinVar, HUMSAVARHGNC link20p11.213PS122000, 614195, PS148300
OVOL2ClinVar, OMIMHGNC link20p11.231PS122000

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
20p112VSX1, OVOL2
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
20p12VSX1, OVOL2
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
20p2VSX1, OVOL2
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
202VSX1, OVOL2
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
ZEB1YES12EPCAM, GRHL2, BCL6, COL4A3, AR, LAMC2, CDH1, SPRR1B, CXADR, MUC1, ITGB4, PKP30
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
ZEB1YES7KAT2B, GATA3, SALL4, ESR1, ERG, LMO2, EP3000
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
ZEB1VSX1No1CTBP2

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

Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.184COL8A2, OVOL2, VSX1, ZEB1
transcription regulatory region DNA binding (GO:0044212) 3.033OVOL2, ZEB1, VSX1
transcription factor activity, sequence-specific DNA binding (GO:0003700) 2.653OVOL2, VSX1, ZEB1
organic cyclic compound binding (GO:0097159) 1.053OVOL2, VSX1, ZEB1
regulatory region DNA binding (GO:0000975) 3.033OVOL2, VSX1, ZEB1
regulatory region nucleic acid binding (GO:0001067) 3.033OVOL2, ZEB1, VSX1
macromolecular complex binding (GO:0044877) 2.613OVOL2, VSX1, ZEB1
nucleic acid binding transcription factor activity (GO:0001071) 2.653OVOL2, VSX1, ZEB1
nucleic acid binding (GO:0003676) 1.443OVOL2, VSX1, ZEB1
DNA binding (GO:0003677) 1.923OVOL2, ZEB1, VSX1
chromatin binding (GO:0003682) 3.643OVOL2, VSX1, ZEB1
heterocyclic compound binding (GO:1901363) 1.063OVOL2, ZEB1, VSX1
cation binding (GO:0043169) 1.42OVOL2, ZEB1
metal ion binding (GO:0046872) 1.412OVOL2, ZEB1
protein binding (GO:0005515) 0.462COL8A2, ZEB1
RNA polymerase II transcription factor activity, sequence-specific DNA binding (GO:0000981) 3.292OVOL2, ZEB1
ion binding (GO:0043167) 1.362OVOL2, ZEB1

NET-GE enrichment

Term New enriched termICP valueGenes
sequence-specific DNA binding transcription factor activity (GO:0003700) -2.650.031OVOL2, VSX1, ZEB1
nucleic acid binding transcription factor activity (GO:0001071) -2.650.031OVOL2, VSX1, ZEB1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.364COL8A2, OVOL2, ZEB1, VSX1
multicellular organismal process (GO:0032501) 1.454COL8A2, OVOL2, VSX1, ZEB1
single-multicellular organism process (GO:0044707) 1.784COL8A2, OVOL2, ZEB1, VSX1
cellular process (GO:0009987) 0.264COL8A2, OVOL2, ZEB1, VSX1
macromolecule metabolic process (GO:0043170) 0.834COL8A2, OVOL2, ZEB1, VSX1
single-organism developmental process (GO:0044767) 1.494COL8A2, OVOL2, ZEB1, VSX1
organic substance metabolic process (GO:0071704) 0.634COL8A2, OVOL2, ZEB1, VSX1
single-organism cellular process (GO:0044763) 0.654COL8A2, OVOL2, ZEB1, VSX1
metabolic process (GO:0008152) 0.584COL8A2, OVOL2, ZEB1, VSX1
single-organism process (GO:0044699) 0.484COL8A2, OVOL2, VSX1, ZEB1
anatomical structure development (GO:0048856) 1.583OVOL2, VSX1, ZEB1
regulation of primary metabolic process (GO:0080090) 1.083OVOL2, VSX1, ZEB1
regulation of metabolic process (GO:0019222) 1.023OVOL2, VSX1, ZEB1
regulation of cellular biosynthetic process (GO:0031326) 1.383OVOL2, VSX1, ZEB1
cell differentiation (GO:0030154) 2.143OVOL2, ZEB1, VSX1
regulation of cellular metabolic process (GO:0031323) 1.073OVOL2, VSX1, ZEB1
nucleic acid metabolic process (GO:0090304) 1.463OVOL2, VSX1, ZEB1
cellular biosynthetic process (GO:0044249) 1.373OVOL2, ZEB1, VSX1
cellular nitrogen compound metabolic process (GO:0034641) 1.223OVOL2, VSX1, ZEB1
nitrogen compound metabolic process (GO:0006807) 1.133OVOL2, ZEB1, VSX1
cellular macromolecule biosynthetic process (GO:0034645) 1.663OVOL2, VSX1, ZEB1
anatomical structure morphogenesis (GO:0009653) 2.533COL8A2, OVOL2, ZEB1
organic cyclic compound biosynthetic process (GO:1901362) 1.663OVOL2, VSX1, ZEB1
regulation of biological process (GO:0050789) 0.453OVOL2, ZEB1, VSX1
nucleic acid-templated transcription (GO:0097659) 1.913OVOL2, VSX1, ZEB1
RNA biosynthetic process (GO:0032774) 1.843OVOL2, VSX1, ZEB1
organic substance biosynthetic process (GO:1901576) 1.343OVOL2, VSX1, ZEB1
cellular macromolecule metabolic process (GO:0044260) 0.933OVOL2, VSX1, ZEB1
cellular developmental process (GO:0048869) 1.823OVOL2, VSX1, ZEB1
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.463OVOL2, ZEB1, VSX1
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.433OVOL2, ZEB1, VSX1
biological regulation (GO:0065007) 0.393OVOL2, VSX1, ZEB1
organic cyclic compound metabolic process (GO:1901360) 1.263OVOL2, VSX1, ZEB1
regulation of gene expression (GO:0010468) 1.373OVOL2, ZEB1, VSX1
heterocycle biosynthetic process (GO:0018130) 1.73OVOL2, ZEB1, VSX1
organ morphogenesis (GO:0009887) 3.553COL8A2, OVOL2, ZEB1
nucleobase-containing compound metabolic process (GO:0006139) 1.353OVOL2, ZEB1, VSX1
regulation of macromolecule metabolic process (GO:0060255) 1.083OVOL2, VSX1, ZEB1
cellular aromatic compound metabolic process (GO:0006725) 1.33OVOL2, VSX1, ZEB1
regulation of biosynthetic process (GO:0009889) 1.373OVOL2, VSX1, ZEB1
regulation of nucleic acid-templated transcription (GO:1903506) 1.553OVOL2, VSX1, ZEB1
regulation of cellular process (GO:0050794) 0.53OVOL2, VSX1, ZEB1
biosynthetic process (GO:0009058) 1.323OVOL2, ZEB1, VSX1
macromolecule biosynthetic process (GO:0009059) 1.613OVOL2, VSX1, ZEB1
regulation of nitrogen compound metabolic process (GO:0051171) 1.363OVOL2, ZEB1, VSX1
regulation of RNA biosynthetic process (GO:2001141) 1.553OVOL2, VSX1, ZEB1
nucleobase-containing compound biosynthetic process (GO:0034654) 1.723OVOL2, VSX1, ZEB1
heterocycle metabolic process (GO:0046483) 1.313OVOL2, ZEB1, VSX1
RNA metabolic process (GO:0016070) 1.593OVOL2, ZEB1, VSX1
primary metabolic process (GO:0044238) 0.693OVOL2, VSX1, ZEB1
cellular nitrogen compound biosynthetic process (GO:0044271) 1.593OVOL2, VSX1, ZEB1
regulation of RNA metabolic process (GO:0051252) 1.523OVOL2, ZEB1, VSX1
cellular metabolic process (GO:0044237) 0.693OVOL2, VSX1, ZEB1
regulation of transcription, DNA-templated (GO:0006355) 1.563OVOL2, VSX1, ZEB1
regulation of macromolecule biosynthetic process (GO:0010556) 1.433OVOL2, ZEB1, VSX1
transcription, DNA-templated (GO:0006351) 1.913OVOL2, ZEB1, VSX1
aromatic compound biosynthetic process (GO:0019438) 1.73OVOL2, ZEB1, VSX1
embryonic morphogenesis (GO:0048598) 3.722OVOL2, ZEB1
embryonic organ morphogenesis (GO:0048562) 4.922OVOL2, ZEB1
negative regulation of metabolic process (GO:0009892) 1.932OVOL2, ZEB1
positive regulation of metabolic process (GO:0009893) 1.742OVOL2, ZEB1
negative regulation of biosynthetic process (GO:0009890) 2.472OVOL2, ZEB1
positive regulation of biosynthetic process (GO:0009891) 2.292OVOL2, ZEB1
negative regulation of cellular biosynthetic process (GO:0031327) 2.492OVOL2, ZEB1
positive regulation of cellular metabolic process (GO:0031325) 1.812OVOL2, ZEB1
negative regulation of cellular metabolic process (GO:0031324) 2.012OVOL2, ZEB1
regulation of response to stimulus (GO:0048583) 1.542OVOL2, ZEB1
negative regulation of gene expression (GO:0010629) 2.482OVOL2, ZEB1
positive regulation of gene expression (GO:0010628) 2.352OVOL2, ZEB1
negative regulation of nitrogen compound metabolic process (GO:0051172) 2.472OVOL2, ZEB1
regulation of signaling (GO:0023051) 1.722OVOL2, ZEB1
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.352OVOL2, ZEB1
regulation of multicellular organismal development (GO:2000026) 2.312OVOL2, ZEB1
regulation of cell communication (GO:0010646) 1.732OVOL2, ZEB1
multicellular organism development (GO:0007275) 2.542OVOL2, VSX1
pattern specification process (GO:0007389) 3.792OVOL2, ZEB1
angiogenesis (GO:0001525) 4.152COL8A2, OVOL2
negative regulation of macromolecule metabolic process (GO:0010605) 2.012OVOL2, ZEB1
positive regulation of macromolecule metabolic process (GO:0010604) 1.812OVOL2, ZEB1
regulation of signal transduction (GO:0009966) 1.842OVOL2, ZEB1
positive regulation of multicellular organismal process (GO:0051240) 2.492OVOL2, ZEB1
positive regulation of cellular biosynthetic process (GO:0031328) 2.32OVOL2, ZEB1
negative regulation of cellular macromolecule biosynthetic process (GO:2000113) 2.62OVOL2, ZEB1
regulation of cell development (GO:0060284) 3.012OVOL2, ZEB1
positive regulation of nucleic acid-templated transcription (GO:1903508) 2.562OVOL2, ZEB1
animal organ development (GO:0048513) 2.532OVOL2, ZEB1
regulation of epithelial cell differentiation (GO:0030856) 4.962OVOL2, ZEB1
negative regulation of epithelial cell differentiation (GO:0030857) 6.092OVOL2, ZEB1
positive regulation of biological process (GO:0048518) 1.22OVOL2, ZEB1
negative regulation of biological process (GO:0048519) 1.332OVOL2, ZEB1
anatomical structure formation involved in morphogenesis (GO:0048646) 3.012COL8A2, OVOL2
sensory organ morphogenesis (GO:0090596) 5.722COL8A2, ZEB1
regulation of cell proliferation (GO:0042127) 2.412OVOL2, ZEB1
negative regulation of cell proliferation (GO:0008285) 3.262OVOL2, ZEB1
tube morphogenesis (GO:0035239) 4.352OVOL2, ZEB1
negative regulation of nucleobase-containing compound metabolic process (GO:0045934) 2.552OVOL2, ZEB1
cell proliferation (GO:0008283) 3.232COL8A2, ZEB1
regulation of developmental process (GO:0050793) 2.12OVOL2, ZEB1
eye morphogenesis (GO:0048592) 5.92COL8A2, ZEB1
negative regulation of nucleic acid-templated transcription (GO:1903507) 2.712OVOL2, ZEB1
negative regulation of RNA biosynthetic process (GO:1902679) 2.72OVOL2, ZEB1
negative regulation of cell differentiation (GO:0045596) 3.332OVOL2, ZEB1
regulation of cell differentiation (GO:0045595) 2.422OVOL2, ZEB1
negative regulation of transcription, DNA-templated (GO:0045892) 2.752OVOL2, ZEB1
positive regulation of transcription, DNA-templated (GO:0045893) 2.562OVOL2, ZEB1
regulation of multicellular organismal process (GO:0051239) 1.872OVOL2, ZEB1
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.292OVOL2, ZEB1
negative regulation of RNA metabolic process (GO:0051253) 2.662OVOL2, ZEB1
negative regulation of developmental process (GO:0051093) 3.172OVOL2, ZEB1
positive regulation of cell differentiation (GO:0045597) 3.012OVOL2, ZEB1
positive regulation of developmental process (GO:0051094) 2.772OVOL2, ZEB1
response to stimulus (GO:0050896) 1.222VSX1, ZEB1
positive regulation of RNA metabolic process (GO:0051254) 2.512OVOL2, ZEB1
positive regulation of RNA biosynthetic process (GO:1902680) 2.542OVOL2, ZEB1
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.392OVOL2, ZEB1
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.242OVOL2, ZEB1
positive regulation of transcription from RNA polymerase II promoter (GO:0045944) 2.812OVOL2, ZEB1
negative regulation of macromolecule biosynthetic process (GO:0010558) 2.532OVOL2, ZEB1
negative regulation of cellular process (GO:0048523) 1.412OVOL2, ZEB1
positive regulation of cellular process (GO:0048522) 1.32OVOL2, ZEB1

NET-GE enrichment

Term New enriched termICP valueGenes
neural crest cell migration (GO:0001755) NEW5.760.05OVOL2, ZEB1
organ morphogenesis (GO:0009887) -3.550.011COL8A2, OVOL2, VSX1, ZEB1
tube morphogenesis (GO:0035239) -4.350.046OVOL2, ZEB1
eye morphogenesis (GO:0048592) -5.90.009COL8A2, ZEB1
negative regulation of epithelial cell differentiation (GO:0030857) -6.090.031OVOL2, ZEB1
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intracellular part (GO:0044424) 0.284COL8A2, OVOL2, VSX1, ZEB1
cell part (GO:0044464) 0.114COL8A2, OVOL2, ZEB1, VSX1
intracellular organelle (GO:0043229) 0.513OVOL2, ZEB1, VSX1
nucleus (GO:0005634) 1.073OVOL2, ZEB1, VSX1
membrane-bounded organelle (GO:0043227) 0.473OVOL2, ZEB1, VSX1
organelle (GO:0043226) 0.43OVOL2, ZEB1, VSX1
intracellular membrane-bounded organelle (GO:0043231) 0.63OVOL2, VSX1, ZEB1
protein complex (GO:0043234) 1.512COL8A2, ZEB1
intracellular organelle part (GO:0044446) 0.812COL8A2, ZEB1
macromolecular complex (GO:0032991) 1.352COL8A2, ZEB1
organelle part (GO:0044422) 0.792COL8A2, ZEB1