Disease table of CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL OMIM ID: PS136800

Gene-disease associations table

GeneAssociated with CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
SLC4A11ClinVar, OMIM, HUMSAVARHGNC link20p133PS136800, 217400, 217700
COL8A2ClinVar, OMIM, HUMSAVARHGNC link1p34.32PS122000, PS136800
ZEB1ClinVar, OMIM, HUMSAVARHGNC link10p11.222PS122000, PS136800
AGBL1ClinVar, OMIM, HUMSAVARHGNC link15q25.31PS136800
TCF4ClinVar, OMIMHGNC link18q21.22PS136800, 610954

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
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
TCF4YES21MITF, MYC, BIRC5, ABCB1, LGR5, DEFA6, PLD1, JUN, NOTUM, NRXN1, CLEC4C, VIM, VCAN, PTEN, DEFA5, CNTNAP2, COPS5, VEGFA, KLF4, CCND1, WNT40
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
ZEB1YES7KAT2B, GATA3, SALL4, ESR1, ERG, LMO2, EP3000
TCF4YES7VHL, TP63, EGR1, XRCC6, HOXB13, HOXB1, PARP10
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
ZEB1TCF4No2EP300, CTBP1

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
ZEB1TCF4No-2STAT3, SUMO1

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
KEGG pathways annotation: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
Hippo signaling pathway (hsa04390) NEW5.370.027ZEB1, TCF4
Transcriptional misregulation in cancer (hsa05202) NEW5.210.049ZEB1, TCF4
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) 0.185AGBL1, SLC4A11, COL8A2, ZEB1, TCF4
protein binding (GO:0005515) 0.465AGBL1, SLC4A11, COL8A2, ZEB1, TCF4
macromolecular complex binding (GO:0044877) 2.612ZEB1, TCF4
zinc ion binding (GO:0008270) 2.662AGBL1, ZEB1
nucleic acid binding (GO:0003676) 1.442ZEB1, TCF4
DNA binding (GO:0003677) 1.922ZEB1, TCF4
E-box binding (GO:0070888) 6.212ZEB1, TCF4
heterocyclic compound binding (GO:1901363) 1.062ZEB1, TCF4
cation binding (GO:0043169) 1.42AGBL1, ZEB1
transition metal ion binding (GO:0046914) 2.482AGBL1, ZEB1
transcription corepressor activity (GO:0003714) 4.332ZEB1, TCF4
transcription cofactor activity (GO:0003712) 3.442ZEB1, TCF4
ion binding (GO:0043167) 1.362AGBL1, ZEB1
transcription factor activity, transcription factor binding (GO:0000989) 3.362ZEB1, TCF4
transcription factor activity, protein binding (GO:0000988) 3.352ZEB1, TCF4
metal ion binding (GO:0046872) 1.412AGBL1, ZEB1
RNA polymerase II transcription factor activity, sequence-specific DNA binding (GO:0000981) 3.292ZEB1, TCF4
transcription factor binding (GO:0008134) 3.462ZEB1, TCF4
regulatory region nucleic acid binding (GO:0001067) 3.032ZEB1, TCF4
transcription regulatory region DNA binding (GO:0044212) 3.032ZEB1, TCF4
transcription factor activity, sequence-specific DNA binding (GO:0003700) 2.652ZEB1, TCF4
organic cyclic compound binding (GO:0097159) 1.052ZEB1, TCF4
regulatory region DNA binding (GO:0000975) 3.032ZEB1, TCF4
protein dimerization activity (GO:0046983) 2.722SLC4A11, TCF4
chromatin binding (GO:0003682) 3.642ZEB1, TCF4
nucleic acid binding transcription factor activity (GO:0001071) 2.652ZEB1, TCF4

NET-GE enrichment

Term New enriched termICP valueGenes
E-box binding (GO:0070888) -6.210.01ZEB1, TCF4
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.265AGBL1, SLC4A11, COL8A2, ZEB1, TCF4
organic substance metabolic process (GO:0071704) 0.634COL8A2, TCF4, AGBL1, ZEB1
single-organism cellular process (GO:0044763) 0.654SLC4A11, TCF4, COL8A2, ZEB1
single-organism process (GO:0044699) 0.484COL8A2, SLC4A11, ZEB1, TCF4
metabolic process (GO:0008152) 0.584COL8A2, TCF4, AGBL1, ZEB1
macromolecule metabolic process (GO:0043170) 0.834COL8A2, AGBL1, ZEB1, TCF4
developmental process (GO:0032502) 1.363COL8A2, TCF4, ZEB1
primary metabolic process (GO:0044238) 0.693AGBL1, ZEB1, TCF4
biological regulation (GO:0065007) 0.393SLC4A11, ZEB1, TCF4
cellular metabolic process (GO:0044237) 0.693AGBL1, ZEB1, TCF4
cellular macromolecule metabolic process (GO:0044260) 0.933AGBL1, ZEB1, TCF4
regulation of primary metabolic process (GO:0080090) 1.082ZEB1, TCF4
regulation of metabolic process (GO:0019222) 1.022ZEB1, TCF4
regulation of response to stimulus (GO:0048583) 1.542ZEB1, TCF4
regulation of macromolecule biosynthetic process (GO:0010556) 1.432ZEB1, TCF4
organic cyclic compound biosynthetic process (GO:1901362) 1.662ZEB1, TCF4
cellular component organization or biogenesis (GO:0071840) 1.222COL8A2, TCF4
negative regulation of macromolecule metabolic process (GO:0010605) 2.012ZEB1, TCF4
positive regulation of macromolecule metabolic process (GO:0010604) 1.812ZEB1, TCF4
regulation of signal transduction (GO:0009966) 1.842ZEB1, TCF4
cellular developmental process (GO:0048869) 1.822ZEB1, TCF4
regulation of neuron differentiation (GO:0045664) 3.392ZEB1, TCF4
positive regulation of neuron differentiation (GO:0045666) 3.982ZEB1, TCF4
positive regulation of cell development (GO:0010720) 3.572ZEB1, TCF4
positive regulation of biological process (GO:0048518) 1.22ZEB1, TCF4
negative regulation of biological process (GO:0048519) 1.332ZEB1, TCF4
regulation of macromolecule metabolic process (GO:0060255) 1.082ZEB1, TCF4
regulation of RNA biosynthetic process (GO:2001141) 1.552ZEB1, TCF4
heterocycle metabolic process (GO:0046483) 1.312ZEB1, TCF4
single-multicellular organism process (GO:0044707) 1.782COL8A2, ZEB1
aromatic compound biosynthetic process (GO:0019438) 1.72ZEB1, TCF4
negative regulation of metabolic process (GO:0009892) 1.932ZEB1, TCF4
positive regulation of metabolic process (GO:0009893) 1.742ZEB1, TCF4
negative regulation of biosynthetic process (GO:0009890) 2.472ZEB1, TCF4
positive regulation of biosynthetic process (GO:0009891) 2.292ZEB1, TCF4
negative regulation of gene expression (GO:0010629) 2.482ZEB1, TCF4
nitrogen compound metabolic process (GO:0006807) 1.132ZEB1, TCF4
regulation of biological process (GO:0050789) 0.452ZEB1, TCF4
nucleic acid-templated transcription (GO:0097659) 1.912ZEB1, TCF4
organic substance biosynthetic process (GO:1901576) 1.342ZEB1, TCF4
anatomical structure morphogenesis (GO:0009653) 2.532COL8A2, ZEB1
cellular component organization (GO:0016043) 1.242COL8A2, TCF4
organic cyclic compound metabolic process (GO:1901360) 1.262ZEB1, TCF4
heterocycle biosynthetic process (GO:0018130) 1.72ZEB1, TCF4
organ morphogenesis (GO:0009887) 3.552COL8A2, ZEB1
regulation of neurogenesis (GO:0050767) 3.212ZEB1, TCF4
regulation of developmental process (GO:0050793) 2.12ZEB1, TCF4
regulation of biosynthetic process (GO:0009889) 1.372ZEB1, TCF4
regulation of cellular process (GO:0050794) 0.52ZEB1, TCF4
regulation of multicellular organismal process (GO:0051239) 1.872ZEB1, TCF4
nucleobase-containing compound biosynthetic process (GO:0034654) 1.722ZEB1, TCF4
RNA metabolic process (GO:0016070) 1.592ZEB1, TCF4
single-organism developmental process (GO:0044767) 1.492COL8A2, ZEB1
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592ZEB1, TCF4
positive regulation of nervous system development (GO:0051962) 3.642ZEB1, TCF4
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.392ZEB1, TCF4
regulation of nervous system development (GO:0051960) 3.12ZEB1, TCF4
transcription, DNA-templated (GO:0006351) 1.912ZEB1, TCF4
negative regulation of macromolecule biosynthetic process (GO:0010558) 2.532ZEB1, TCF4
RNA biosynthetic process (GO:0032774) 1.842ZEB1, TCF4
cell differentiation (GO:0030154) 2.142ZEB1, TCF4
cellular biosynthetic process (GO:0044249) 1.372ZEB1, TCF4
cellular nitrogen compound metabolic process (GO:0034641) 1.222ZEB1, TCF4
cellular macromolecule biosynthetic process (GO:0034645) 1.662ZEB1, TCF4
regulation of signaling (GO:0023051) 1.722ZEB1, TCF4
regulation of cell communication (GO:0010646) 1.732ZEB1, TCF4
nucleobase-containing compound metabolic process (GO:0006139) 1.352ZEB1, TCF4
regulation of cellular response to growth factor stimulus (GO:0090287) 4.292ZEB1, TCF4
negative regulation of transcription from RNA polymerase II promoter (GO:0000122) 3.122ZEB1, TCF4
positive regulation of multicellular organismal process (GO:0051240) 2.492ZEB1, TCF4
regulation of cell development (GO:0060284) 3.012ZEB1, TCF4
positive regulation of neurogenesis (GO:0050769) 3.772ZEB1, TCF4
positive regulation of nucleic acid-templated transcription (GO:1903508) 2.562ZEB1, TCF4
multicellular organismal process (GO:0032501) 1.452COL8A2, ZEB1
cell proliferation (GO:0008283) 3.232COL8A2, ZEB1
cellular aromatic compound metabolic process (GO:0006725) 1.32ZEB1, TCF4
regulation of nucleic acid-templated transcription (GO:1903506) 1.552ZEB1, TCF4
negative regulation of nucleic acid-templated transcription (GO:1903507) 2.712ZEB1, TCF4
positive regulation of cell differentiation (GO:0045597) 3.012ZEB1, TCF4
regulation of cell differentiation (GO:0045595) 2.422ZEB1, TCF4
negative regulation of transcription, DNA-templated (GO:0045892) 2.752ZEB1, TCF4
positive regulation of transcription, DNA-templated (GO:0045893) 2.562ZEB1, TCF4
negative regulation of developmental process (GO:0051093) 3.172ZEB1, TCF4
positive regulation of developmental process (GO:0051094) 2.772ZEB1, TCF4
negative regulation of RNA metabolic process (GO:0051253) 2.662ZEB1, TCF4
regulation of RNA metabolic process (GO:0051252) 1.522ZEB1, TCF4
positive regulation of RNA metabolic process (GO:0051254) 2.512ZEB1, TCF4
positive regulation of RNA biosynthetic process (GO:1902680) 2.542ZEB1, TCF4
positive regulation of gene expression (GO:0010628) 2.352ZEB1, TCF4
positive regulation of transcription from RNA polymerase II promoter (GO:0045944) 2.812ZEB1, TCF4
system development (GO:0048731) 2.922ZEB1, TCF4
positive regulation of cellular biosynthetic process (GO:0031328) 2.32ZEB1, TCF4
negative regulation of cellular biosynthetic process (GO:0031327) 2.492ZEB1, TCF4
regulation of cellular biosynthetic process (GO:0031326) 1.382ZEB1, TCF4
positive regulation of cellular metabolic process (GO:0031325) 1.812ZEB1, TCF4
negative regulation of cellular metabolic process (GO:0031324) 2.012ZEB1, TCF4
regulation of cellular metabolic process (GO:0031323) 1.072ZEB1, TCF4
nucleic acid metabolic process (GO:0090304) 1.462ZEB1, TCF4
regulation of transcription, DNA-templated (GO:0006355) 1.562ZEB1, TCF4
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462ZEB1, TCF4
negative regulation of cellular macromolecule biosynthetic process (GO:2000113) 2.62ZEB1, TCF4
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.242ZEB1, TCF4
regulation of gene expression (GO:0010468) 1.372ZEB1, TCF4
sensory organ morphogenesis (GO:0090596) 5.722COL8A2, ZEB1
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.352ZEB1, TCF4
negative regulation of nucleobase-containing compound metabolic process (GO:0045934) 2.552ZEB1, TCF4
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432ZEB1, TCF4
eye morphogenesis (GO:0048592) 5.92COL8A2, ZEB1
negative regulation of RNA biosynthetic process (GO:1902679) 2.72ZEB1, TCF4
biosynthetic process (GO:0009058) 1.322ZEB1, TCF4
macromolecule biosynthetic process (GO:0009059) 1.612ZEB1, TCF4
regulation of nitrogen compound metabolic process (GO:0051171) 1.362ZEB1, TCF4
negative regulation of nitrogen compound metabolic process (GO:0051172) 2.472ZEB1, TCF4
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.292ZEB1, TCF4
nervous system development (GO:0007399) 3.532ZEB1, TCF4
anatomical structure development (GO:0048856) 1.582ZEB1, TCF4
regulation of multicellular organismal development (GO:2000026) 2.312ZEB1, TCF4
negative regulation of cellular process (GO:0048523) 1.412ZEB1, TCF4
positive regulation of cellular process (GO:0048522) 1.32ZEB1, TCF4

NET-GE enrichment

Term New enriched termICP valueGenes
eye morphogenesis (GO:0048592) -5.90.014COL8A2, ZEB1
positive regulation of neuron differentiation (GO:0045666) -3.980.05ZEB1, TCF4
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.115AGBL1, SLC4A11, TCF4, COL8A2, ZEB1
intracellular part (GO:0044424) 0.284COL8A2, AGBL1, ZEB1, TCF4
protein complex (GO:0043234) 1.513COL8A2, ZEB1, TCF4
intracellular organelle part (GO:0044446) 0.813COL8A2, TCF4, ZEB1
macromolecular complex (GO:0032991) 1.353COL8A2, ZEB1, TCF4
organelle part (GO:0044422) 0.793COL8A2, ZEB1, TCF4
cytoplasm (GO:0005737) 1.012AGBL1, ZEB1
intracellular membrane-bounded organelle (GO:0043231) 0.62ZEB1, TCF4
nucleus (GO:0005634) 1.072ZEB1, TCF4
cytoplasmic part (GO:0044444) 0.822COL8A2, AGBL1
intracellular organelle (GO:0043229) 0.512ZEB1, TCF4
nuclear part (GO:0044428) 1.552ZEB1, TCF4
transcription factor complex (GO:0005667) 4.12ZEB1, TCF4
membrane-bounded organelle (GO:0043227) 0.472ZEB1, TCF4
organelle (GO:0043226) 0.42ZEB1, TCF4