Disease table of OTOFACIOCERVICAL SYNDROME OMIM ID: PS166780

Gene-disease associations table

GeneAssociated with OTOFACIOCERVICAL SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PAX1ClinVar, OMIM, HUMSAVARHGNC link20p11.221PS166780
EYA1ClinVar, OMIMHGNC link8q13.33PS166780, 113650, 602588

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
PAX1YES1PDGFRA0
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
PAX1EYA1No-1BMP4

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
organic cyclic compound binding (GO:0097159) 1.052PAX1, EYA1
binding (GO:0005488) 0.182EYA1, PAX1
nucleic acid binding (GO:0003676) 1.442PAX1, EYA1
heterocyclic compound binding (GO:1901363) 1.062PAX1, EYA1
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
positive regulation of nucleic acid-templated transcription (GO:1903508) 2.562PAX1, EYA1
anatomical structure development (GO:0048856) 1.582PAX1, EYA1
RNA biosynthetic process (GO:0032774) 1.842EYA1, PAX1
positive regulation of metabolic process (GO:0009893) 1.742PAX1, EYA1
regulation of metabolic process (GO:0019222) 1.022EYA1, PAX1
positive regulation of biosynthetic process (GO:0009891) 2.292PAX1, EYA1
regulation of cellular biosynthetic process (GO:0031326) 1.382PAX1, EYA1
positive regulation of cellular metabolic process (GO:0031325) 1.812EYA1, PAX1
cell differentiation (GO:0030154) 2.142PAX1, EYA1
regulation of cellular metabolic process (GO:0031323) 1.072PAX1, EYA1
nucleobase-containing compound metabolic process (GO:0006139) 1.352PAX1, EYA1
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.292EYA1, PAX1
nucleic acid metabolic process (GO:0090304) 1.462EYA1, PAX1
cellular biosynthetic process (GO:0044249) 1.372PAX1, EYA1
cellular nitrogen compound metabolic process (GO:0034641) 1.222EYA1, PAX1
positive regulation of gene expression (GO:0010628) 2.352EYA1, PAX1
cellular macromolecule biosynthetic process (GO:0034645) 1.662EYA1, PAX1
single-organism developmental process (GO:0044767) 1.492PAX1, EYA1
anatomical structure morphogenesis (GO:0009653) 2.532EYA1, PAX1
organic cyclic compound biosynthetic process (GO:1901362) 1.662PAX1, EYA1
regulation of biological process (GO:0050789) 0.452PAX1, EYA1
nucleic acid-templated transcription (GO:0097659) 1.912EYA1, PAX1
regulation of primary metabolic process (GO:0080090) 1.082EYA1, PAX1
organic substance biosynthetic process (GO:1901576) 1.342EYA1, PAX1
positive regulation of macromolecule metabolic process (GO:0010604) 1.812EYA1, PAX1
cellular macromolecule metabolic process (GO:0044260) 0.932EYA1, PAX1
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.242EYA1, PAX1
cellular developmental process (GO:0048869) 1.822PAX1, EYA1
positive regulation of cellular biosynthetic process (GO:0031328) 2.32EYA1, PAX1
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462PAX1, EYA1
multicellular organism development (GO:0007275) 2.542EYA1, PAX1
organic substance metabolic process (GO:0071704) 0.632PAX1, EYA1
animal organ development (GO:0048513) 2.532PAX1, EYA1
biological regulation (GO:0065007) 0.392PAX1, EYA1
organic cyclic compound metabolic process (GO:1901360) 1.262EYA1, PAX1
positive regulation of biological process (GO:0048518) 1.22PAX1, EYA1
system development (GO:0048731) 2.922PAX1, EYA1
regulation of gene expression (GO:0010468) 1.372PAX1, EYA1
heterocycle biosynthetic process (GO:0018130) 1.72PAX1, EYA1
developmental process (GO:0032502) 1.362EYA1, PAX1
organ morphogenesis (GO:0009887) 3.552PAX1, EYA1
multicellular organismal process (GO:0032501) 1.452PAX1, EYA1
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.352PAX1, EYA1
regulation of macromolecule biosynthetic process (GO:0010556) 1.432EYA1, PAX1
regulation of macromolecule metabolic process (GO:0060255) 1.082EYA1, PAX1
cellular aromatic compound metabolic process (GO:0006725) 1.32EYA1, PAX1
cellular process (GO:0009987) 0.262EYA1, PAX1
regulation of biosynthetic process (GO:0009889) 1.372PAX1, EYA1
tissue development (GO:0009888) 3.272PAX1, EYA1
regulation of nucleic acid-templated transcription (GO:1903506) 1.552PAX1, EYA1
regulation of cellular process (GO:0050794) 0.52PAX1, EYA1
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432EYA1, PAX1
pattern specification process (GO:0007389) 3.792PAX1, EYA1
biosynthetic process (GO:0009058) 1.322PAX1, EYA1
macromolecule biosynthetic process (GO:0009059) 1.612EYA1, PAX1
single-organism cellular process (GO:0044763) 0.652EYA1, PAX1
positive regulation of transcription, DNA-templated (GO:0045893) 2.562PAX1, EYA1
metabolic process (GO:0008152) 0.582EYA1, PAX1
regulation of RNA biosynthetic process (GO:2001141) 1.552EYA1, PAX1
nucleobase-containing compound biosynthetic process (GO:0034654) 1.722EYA1, PAX1
heterocycle metabolic process (GO:0046483) 1.312PAX1, EYA1
RNA metabolic process (GO:0016070) 1.592PAX1, EYA1
primary metabolic process (GO:0044238) 0.692PAX1, EYA1
single-organism process (GO:0044699) 0.482PAX1, EYA1
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592EYA1, PAX1
single-multicellular organism process (GO:0044707) 1.782PAX1, EYA1
regulation of RNA metabolic process (GO:0051252) 1.522PAX1, EYA1
positive regulation of RNA metabolic process (GO:0051254) 2.512EYA1, PAX1
cellular metabolic process (GO:0044237) 0.692PAX1, EYA1
macromolecule metabolic process (GO:0043170) 0.832EYA1, PAX1
positive regulation of RNA biosynthetic process (GO:1902680) 2.542PAX1, EYA1
regulation of transcription, DNA-templated (GO:0006355) 1.562EYA1, PAX1
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.392PAX1, EYA1
nitrogen compound metabolic process (GO:0006807) 1.132EYA1, PAX1
positive regulation of transcription from RNA polymerase II promoter (GO:0045944) 2.812PAX1, EYA1
transcription, DNA-templated (GO:0006351) 1.912EYA1, PAX1
aromatic compound biosynthetic process (GO:0019438) 1.72EYA1, PAX1
positive regulation of cellular process (GO:0048522) 1.32EYA1, PAX1
regulation of nitrogen compound metabolic process (GO:0051171) 1.362PAX1, EYA1
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.62EYA1, PAX1
nucleus (GO:0005634) 1.072PAX1, EYA1
cell part (GO:0044464) 0.112EYA1, PAX1
intracellular organelle (GO:0043229) 0.512PAX1, EYA1
intracellular part (GO:0044424) 0.282EYA1, PAX1
membrane-bounded organelle (GO:0043227) 0.472EYA1, PAX1
organelle (GO:0043226) 0.42PAX1, EYA1