Disease table of COLOBOMA, OCULAR, AUTOSOMAL DOMINANT OMIM ID: 120200

Gene-disease associations table

GeneAssociated with COLOBOMA, OCULAR, AUTOSOMAL DOMINANT inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
GDF3ClinVarHGNC link12p13.314PS300345, PS118100, 120200, PS251600
PAX6ClinVar, OMIM, HUMSAVARHGNC link11p138148190, 120200, 106210, 206700, 604229, 120430, PS136520, 165550
FIBPClinVarHGNC link11q13.12120200, 248000
YAP1ClinVarHGNC link11q22.12120433, 120200

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
11q2YAP1, FIBP
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
113FIBP, YAP1, PAX6
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
PAX6YES12FABP7, PROX1, GCK, ITGB1, SIX3, MET, PCSK1, PDHX, ITGA5, MMP2, KRT12, GCG0
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
GDF3YES1NANOG0
PAX6YES7SP1, CTCF, OTX2, SOX2, TFCP2, FOXA2, SIRT10
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
PAX6YAP1No6SUMO1, SMAD1, SMAD3, SMAD5, TP73, EP300

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
PAX6YAP1No-4SMAD1, SHH, SMAD3, SMAD4
FIBPYAP1No-1UBC

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: 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 (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.184PAX6, YAP1, FIBP, GDF3
protein binding (GO:0005515) 0.464PAX6, YAP1, FIBP, GDF3
sequence-specific DNA binding (GO:0043565) 2.792PAX6, YAP1
sequence-specific double-stranded DNA binding (GO:1990837) 3.22PAX6, YAP1
core promoter binding (GO:0001047) 4.712PAX6, YAP1
transcription regulatory region DNA binding (GO:0044212) 3.032PAX6, YAP1
regulatory region nucleic acid binding (GO:0001067) 3.032PAX6, YAP1
core promoter sequence-specific DNA binding (GO:0001046) 5.122PAX6, YAP1
RNA polymerase II regulatory region DNA binding (GO:0001012) 3.362PAX6, YAP1
enzyme binding (GO:0019899) 2.272PAX6, GDF3
protein kinase binding (GO:0019901) 3.442PAX6, GDF3
kinase binding (GO:0019900) 3.322PAX6, GDF3
macromolecular complex binding (GO:0044877) 2.612PAX6, YAP1
RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977) 3.372PAX6, YAP1
nucleic acid binding (GO:0003676) 1.442PAX6, YAP1
DNA binding (GO:0003677) 1.922PAX6, YAP1
transcription regulatory region sequence-specific DNA binding (GO:0000976) 3.242PAX6, YAP1
double-stranded DNA binding (GO:0003690) 3.092PAX6, YAP1
chromatin binding (GO:0003682) 3.642PAX6, YAP1
organic cyclic compound binding (GO:0097159) 1.052PAX6, YAP1
heterocyclic compound binding (GO:1901363) 1.062PAX6, YAP1
RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979) 5.772PAX6, YAP1
regulatory region DNA binding (GO:0000975) 3.032PAX6, YAP1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
regulation of cellular process (GO:0050794) 0.54PAX6, YAP1, FIBP, GDF3
biological regulation (GO:0065007) 0.394PAX6, YAP1, FIBP, GDF3
regulation of biological process (GO:0050789) 0.454PAX6, YAP1, FIBP, GDF3
single-organism process (GO:0044699) 0.484PAX6, YAP1, FIBP, GDF3
signal transduction (GO:0007165) 1.284PAX6, YAP1, FIBP, GDF3
regulation of RNA metabolic process (GO:0051252) 1.523PAX6, YAP1, GDF3
positive regulation of metabolic process (GO:0009893) 1.743PAX6, YAP1, GDF3
regulation of metabolic process (GO:0019222) 1.023PAX6, YAP1, GDF3
regulation of cellular biosynthetic process (GO:0031326) 1.383PAX6, YAP1, GDF3
positive regulation of cellular metabolic process (GO:0031325) 1.813PAX6, YAP1, GDF3
regulation of cellular metabolic process (GO:0031323) 1.073PAX6, YAP1, GDF3
regulation of primary metabolic process (GO:0080090) 1.083PAX6, YAP1, GDF3
positive regulation of macromolecule metabolic process (GO:0010604) 1.813PAX6, YAP1, GDF3
cellular developmental process (GO:0048869) 1.823PAX6, YAP1, GDF3
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.463PAX6, YAP1, GDF3
regulation of developmental process (GO:0050793) 2.13PAX6, YAP1, GDF3
animal organ development (GO:0048513) 2.533PAX6, YAP1, GDF3
regulation of epithelial cell differentiation (GO:0030856) 4.963PAX6, YAP1, GDF3
positive regulation of biological process (GO:0048518) 1.23PAX6, YAP1, GDF3
negative regulation of biological process (GO:0048519) 1.333PAX6, YAP1, GDF3
regulation of gene expression (GO:0010468) 1.373PAX6, YAP1, GDF3
developmental process (GO:0032502) 1.363PAX6, YAP1, GDF3
multicellular organismal process (GO:0032501) 1.453PAX6, YAP1, GDF3
regulation of macromolecule biosynthetic process (GO:0010556) 1.433PAX6, YAP1, GDF3
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.433PAX6, YAP1, GDF3
cellular process (GO:0009987) 0.263PAX6, YAP1, GDF3
regulation of biosynthetic process (GO:0009889) 1.373PAX6, YAP1, GDF3
regulation of nucleic acid-templated transcription (GO:1903506) 1.553PAX6, YAP1, GDF3
single-organism developmental process (GO:0044767) 1.493PAX6, YAP1, GDF3
negative regulation of cell differentiation (GO:0045596) 3.333PAX6, YAP1, GDF3
regulation of cell differentiation (GO:0045595) 2.423PAX6, YAP1, GDF3
single-organism cellular process (GO:0044763) 0.653PAX6, YAP1, GDF3
regulation of nitrogen compound metabolic process (GO:0051171) 1.363PAX6, YAP1, GDF3
regulation of multicellular organismal process (GO:0051239) 1.873PAX6, YAP1, GDF3
regulation of RNA biosynthetic process (GO:2001141) 1.553PAX6, YAP1, GDF3
negative regulation of developmental process (GO:0051093) 3.173PAX6, YAP1, GDF3
single-multicellular organism process (GO:0044707) 1.783PAX6, YAP1, GDF3
regulation of macromolecule metabolic process (GO:0060255) 1.083PAX6, YAP1, GDF3
response to stimulus (GO:0050896) 1.223PAX6, YAP1, GDF3
anatomical structure development (GO:0048856) 1.583PAX6, YAP1, GDF3
regulation of transcription, DNA-templated (GO:0006355) 1.563PAX6, YAP1, GDF3
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.243PAX6, YAP1, GDF3
regulation of multicellular organismal development (GO:2000026) 2.313PAX6, YAP1, GDF3
negative regulation of cellular process (GO:0048523) 1.413PAX6, YAP1, GDF3
positive regulation of cellular process (GO:0048522) 1.33PAX6, YAP1, GDF3
regulation of phosphate metabolic process (GO:0019220) 2.352PAX6, GDF3
negative regulation of response to stimulus (GO:0048585) 2.522YAP1, GDF3
positive regulation of response to stimulus (GO:0048584) 2.182YAP1, GDF3
regulation of response to stimulus (GO:0048583) 1.542YAP1, GDF3
cell surface receptor signaling pathway (GO:0007166) 2.092PAX6, FIBP
organic cyclic compound biosynthetic process (GO:1901362) 1.662PAX6, YAP1
organic cyclic compound metabolic process (GO:1901360) 1.262PAX6, YAP1
negative regulation of macromolecule metabolic process (GO:0010605) 2.012PAX6, YAP1
negative regulation of signal transduction (GO:0009968) 2.752YAP1, GDF3
regulation of signal transduction (GO:0009966) 1.842YAP1, GDF3
positive regulation of signal transduction (GO:0009967) 2.52YAP1, GDF3
negative regulation of epithelial cell differentiation (GO:0030857) 6.092YAP1, GDF3
epithelial cell differentiation (GO:0030855) 3.982PAX6, YAP1
regulation of cell proliferation (GO:0042127) 2.412PAX6, YAP1
keratinocyte differentiation (GO:0030216) 5.372PAX6, YAP1
cell development (GO:0048468) 3.282PAX6, GDF3
heterocycle metabolic process (GO:0046483) 1.312PAX6, YAP1
regulation of phosphorylation (GO:0042325) 2.52PAX6, GDF3
cellular biosynthetic process (GO:0044249) 1.372PAX6, YAP1
aromatic compound biosynthetic process (GO:0019438) 1.72PAX6, YAP1
negative regulation of metabolic process (GO:0009892) 1.932PAX6, YAP1
negative regulation of biosynthetic process (GO:0009890) 2.472PAX6, YAP1
positive regulation of biosynthetic process (GO:0009891) 2.292PAX6, YAP1
embryonic organ development (GO:0048568) 4.862YAP1, GDF3
positive regulation of gene expression (GO:0010628) 2.352PAX6, YAP1
regulation of apoptotic process (GO:0042981) 2.52YAP1, GDF3
nucleic acid-templated transcription (GO:0097659) 1.912PAX6, YAP1
organic substance biosynthetic process (GO:1901576) 1.342PAX6, YAP1
regulation of cell communication (GO:0010646) 1.732YAP1, GDF3
cellular macromolecule metabolic process (GO:0044260) 0.932PAX6, YAP1
cellular component organization (GO:0016043) 1.242PAX6, YAP1
cellular component organization or biogenesis (GO:0071840) 1.222PAX6, YAP1
anatomical structure formation involved in morphogenesis (GO:0048646) 3.012PAX6, GDF3
heterocycle biosynthetic process (GO:0018130) 1.72PAX6, YAP1
nucleobase-containing compound metabolic process (GO:0006139) 1.352PAX6, YAP1
tissue development (GO:0009888) 3.272YAP1, GDF3
response to stress (GO:0006950) 1.82PAX6, YAP1
metabolic process (GO:0008152) 0.582PAX6, YAP1
nucleobase-containing compound biosynthetic process (GO:0034654) 1.722PAX6, YAP1
RNA metabolic process (GO:0016070) 1.592PAX6, YAP1
negative regulation of RNA biosynthetic process (GO:1902679) 2.72PAX6, YAP1
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592PAX6, YAP1
sensory organ development (GO:0007423) 4.822PAX6, GDF3
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.392PAX6, YAP1
regulation of nervous system development (GO:0051960) 3.12PAX6, YAP1
transcription, DNA-templated (GO:0006351) 1.912PAX6, YAP1
negative regulation of macromolecule biosynthetic process (GO:0010558) 2.532PAX6, YAP1
RNA biosynthetic process (GO:0032774) 1.842PAX6, YAP1
mesoderm development (GO:0007498) 5.722YAP1, GDF3
cell differentiation (GO:0030154) 2.142PAX6, YAP1
positive regulation of signaling (GO:0023056) 2.412YAP1, GDF3
negative regulation of signaling (GO:0023057) 2.652YAP1, GDF3
cellular nitrogen compound metabolic process (GO:0034641) 1.222PAX6, YAP1
negative regulation of cell communication (GO:0010648) 2.662YAP1, GDF3
cellular macromolecule biosynthetic process (GO:0034645) 1.662PAX6, YAP1
regulation of signaling (GO:0023051) 1.722YAP1, GDF3
axis specification (GO:0009798) 5.422PAX6, GDF3
positive regulation of cell communication (GO:0010647) 2.412YAP1, GDF3
anatomical structure morphogenesis (GO:0009653) 2.532PAX6, YAP1
regulation of neurogenesis (GO:0050767) 3.212PAX6, YAP1
positive regulation of multicellular organismal process (GO:0051240) 2.492PAX6, YAP1
regulation of protein metabolic process (GO:0051246) 1.932PAX6, GDF3
regulation of cell development (GO:0060284) 3.012PAX6, YAP1
regulation of protein modification process (GO:0031399) 2.322PAX6, GDF3
regulation of stem cell proliferation (GO:0072091) 5.62PAX6, YAP1
positive regulation of cell proliferation (GO:0008284) 3.012PAX6, YAP1
cellular aromatic compound metabolic process (GO:0006725) 1.32PAX6, YAP1
negative regulation of nucleic acid-templated transcription (GO:1903507) 2.712PAX6, YAP1
eye development (GO:0001654) 5.072PAX6, GDF3
positive regulation of transcription, DNA-templated (GO:0045893) 2.562PAX6, YAP1
regulation of cellular protein metabolic process (GO:0032268) 1.992PAX6, GDF3
regulation of epithelial cell proliferation (GO:0050678) 4.062PAX6, YAP1
positive regulation of developmental process (GO:0051094) 2.772PAX6, YAP1
negative regulation of RNA metabolic process (GO:0051253) 2.662PAX6, YAP1
positive regulation of RNA metabolic process (GO:0051254) 2.512PAX6, YAP1
macromolecule metabolic process (GO:0043170) 0.832PAX6, YAP1
positive regulation of RNA biosynthetic process (GO:1902680) 2.542PAX6, YAP1
nitrogen compound metabolic process (GO:0006807) 1.132PAX6, YAP1
positive regulation of transcription from RNA polymerase II promoter (GO:0045944) 2.812PAX6, YAP1
system development (GO:0048731) 2.922PAX6, GDF3
positive regulation of nucleic acid-templated transcription (GO:1903508) 2.562PAX6, YAP1
positive regulation of cellular biosynthetic process (GO:0031328) 2.32PAX6, YAP1
negative regulation of cellular biosynthetic process (GO:0031327) 2.492PAX6, YAP1
negative regulation of cellular metabolic process (GO:0031324) 2.012PAX6, YAP1
nucleic acid metabolic process (GO:0090304) 1.462PAX6, YAP1
regulation of cell death (GO:0010941) 2.432YAP1, GDF3
multicellular organism development (GO:0007275) 2.542PAX6, GDF3
pattern specification process (GO:0007389) 3.792PAX6, GDF3
growth (GO:0040007) 3.82YAP1, GDF3
cellular component morphogenesis (GO:0032989) 3.52PAX6, YAP1
organic substance metabolic process (GO:0071704) 0.632PAX6, YAP1
regulation of programmed cell death (GO:0043067) 2.492YAP1, GDF3
embryonic morphogenesis (GO:0048598) 3.722PAX6, YAP1
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.352PAX6, YAP1
negative regulation of nucleobase-containing compound metabolic process (GO:0045934) 2.552PAX6, YAP1
regulation of phosphorus metabolic process (GO:0051174) 2.352PAX6, GDF3
biosynthetic process (GO:0009058) 1.322PAX6, YAP1
macromolecule biosynthetic process (GO:0009059) 1.612PAX6, YAP1
negative regulation of nitrogen compound metabolic process (GO:0051172) 2.472PAX6, YAP1
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.292PAX6, YAP1
primary metabolic process (GO:0044238) 0.692PAX6, YAP1
epidermal cell differentiation (GO:0009913) 5.132PAX6, YAP1
cellular metabolic process (GO:0044237) 0.692PAX6, YAP1
notochord development (GO:0030903) 7.532YAP1, GDF3
regulation of protein phosphorylation (GO:0001932) 2.572PAX6, GDF3

NET-GE enrichment

Term New enriched termICP valueGenes
keratinocyte differentiation (GO:0030216) -5.370.016PAX6, YAP1
negative regulation of cell differentiation (GO:0045596) -3.330.03PAX6, YAP1, GDF3
epidermal cell differentiation (GO:0009913) -5.130.034PAX6, YAP1
embryonic organ development (GO:0048568) -4.860.037PAX6, YAP1, GDF3
regulation of cell fate commitment (GO:0010453) NEW6.470.005PAX6, GDF3
eye development (GO:0001654) -5.070.035PAX6, GDF3
regulation of epithelial cell differentiation (GO:0030856) -4.960.037PAX6, YAP1, GDF3
negative regulation of epithelial cell differentiation (GO:0030857) -6.090.005YAP1, GDF3
hindbrain development (GO:0030902) NEW6.730.029PAX6, YAP1
notochord development (GO:0030903) -7.530.001YAP1, GDF3
axis specification (GO:0009798) -5.420.033PAX6, GDF3
regulation of stem cell proliferation (GO:0072091) -5.60.04PAX6, YAP1
mesoderm development (GO:0007498) -5.720.014YAP1, GDF3
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intracellular part (GO:0044424) 0.284PAX6, YAP1, FIBP, GDF3
cell part (GO:0044464) 0.114PAX6, YAP1, FIBP, GDF3
cytoplasm (GO:0005737) 1.013PAX6, YAP1, GDF3
intracellular membrane-bounded organelle (GO:0043231) 0.63PAX6, FIBP, YAP1
nucleus (GO:0005634) 1.073PAX6, FIBP, YAP1
intracellular organelle (GO:0043229) 0.513PAX6, FIBP, YAP1
membrane-bounded organelle (GO:0043227) 0.473PAX6, FIBP, YAP1
organelle (GO:0043226) 0.43PAX6, FIBP, YAP1
intracellular organelle part (GO:0044446) 0.812PAX6, YAP1
macromolecular complex (GO:0032991) 1.352PAX6, YAP1
membrane (GO:0016020) 0.682FIBP, YAP1
nucleoplasm (GO:0005654) 1.892PAX6, YAP1
cytoplasmic part (GO:0044444) 0.822FIBP, YAP1
nuclear part (GO:0044428) 1.552PAX6, YAP1
extracellular region part (GO:0044421) 1.572FIBP, GDF3
organelle part (GO:0044422) 0.792PAX6, YAP1