Disease table of BRANCHIOOTORENAL SYNDROME 1 OMIM ID: 113650

Gene-disease associations table

GeneAssociated with BRANCHIOOTORENAL SYNDROME 1 inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
EYA1ClinVar, OMIM, HUMSAVARHGNC link8q13.33PS166780, 113650, 602588
SIX1ClinVarHGNC link14q23.13608389, 113650, PS124900

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
SIX1YES2VEGFC, CDH10
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
EYA1SIX1Yes1FZR1

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
EYA1SIX1Yesactivation, binding5PAX3, PAX6, PAX7, DACH1, PAX2

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
Gene1Gene2Direct interactionMore information
EYA1SIX1yes, they interactThe protein product of EYA1 functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Transcriptional misregulation in cancerhsa052025.212SIX1, EYA1

NET-GE enrichment

Term New enriched termICP valueGenes
Transcriptional misregulation in cancer (hsa05202) -5.210.003SIX1, EYA1
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) 0.182SIX1, EYA1
organic cyclic compound binding (GO:0097159) 1.052SIX1, EYA1
heterocyclic compound binding (GO:1901363) 1.062SIX1, EYA1
nucleic acid binding (GO:0003676) 1.442SIX1, EYA1
protein binding (GO:0005515) 0.462SIX1, EYA1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
protein localization (GO:0008104) 2.362SIX1, EYA1
regulation of primary metabolic process (GO:0080090) 1.082SIX1, EYA1
regulation of metabolic process (GO:0019222) 1.022SIX1, EYA1
organic cyclic compound biosynthetic process (GO:1901362) 1.662SIX1, EYA1
organic cyclic compound metabolic process (GO:1901360) 1.262SIX1, EYA1
outflow tract morphogenesis (GO:0003151) 5.972SIX1, EYA1
morphogenesis of an epithelium (GO:0002009) 4.082SIX1, EYA1
regulation of secondary heart field cardioblast proliferation (GO:0003266) 7.652SIX1, EYA1
regulation of cell proliferation involved in heart morphogenesis (GO:2000136) 7.022SIX1, EYA1
regulation of organ formation (GO:0003156) 6.262SIX1, EYA1
cellular developmental process (GO:0048869) 1.822SIX1, EYA1
kidney development (GO:0001822) 4.792SIX1, EYA1
regulation of neuron differentiation (GO:0045664) 3.392SIX1, EYA1
animal organ development (GO:0048513) 2.532SIX1, EYA1
blood vessel morphogenesis (GO:0048514) 5.322SIX1, EYA1
epithelial cell differentiation (GO:0030855) 3.982SIX1, EYA1
positive regulation of biological process (GO:0048518) 1.22SIX1, EYA1
negative regulation of biological process (GO:0048519) 1.332SIX1, EYA1
macromolecule localization (GO:0033036) 2.342SIX1, EYA1
regulation of cell proliferation (GO:0042127) 2.412SIX1, EYA1
sensory perception of sound (GO:0007605) 4.822SIX1, EYA1
negative regulation of cell death (GO:0060548) 2.952SIX1, EYA1
sensory perception (GO:0007600) 2.932SIX1, EYA1
regulation of RNA biosynthetic process (GO:2001141) 1.552SIX1, EYA1
system process (GO:0003008) 2.32SIX1, EYA1
single-multicellular organism process (GO:0044707) 1.782SIX1, EYA1
regulation of macromolecule metabolic process (GO:0060255) 1.082SIX1, EYA1
aromatic compound biosynthetic process (GO:0019438) 1.72SIX1, EYA1
neuron fate specification (GO:0048665) 6.592SIX1, EYA1
embryonic organ morphogenesis (GO:0048562) 4.922SIX1, EYA1
positive regulation of metabolic process (GO:0009893) 1.742SIX1, EYA1
positive regulation of biosynthetic process (GO:0009891) 2.292SIX1, EYA1
metabolic process (GO:0008152) 0.582SIX1, EYA1
morphogenesis of a branching structure (GO:0001763) 4.712SIX1, EYA1
positive regulation of gene expression (GO:0010628) 2.352SIX1, EYA1
regulation of apoptotic process (GO:0042981) 2.52SIX1, EYA1
regulation of biological process (GO:0050789) 0.452SIX1, EYA1
nucleic acid-templated transcription (GO:0097659) 1.912SIX1, EYA1
organic substance biosynthetic process (GO:1901576) 1.342SIX1, EYA1
cochlea morphogenesis (GO:0090103) 6.642SIX1, EYA1
cellular macromolecule metabolic process (GO:0044260) 0.932SIX1, EYA1
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.242SIX1, EYA1
heterocycle metabolic process (GO:0046483) 1.312SIX1, EYA1
otic vesicle development (GO:0071599) 7.782SIX1, EYA1
biological regulation (GO:0065007) 0.392SIX1, EYA1
heterocycle biosynthetic process (GO:0018130) 1.72SIX1, EYA1
skeletal system morphogenesis (GO:0048705) 4.982SIX1, EYA1
embryonic skeletal system morphogenesis (GO:0048704) 5.312SIX1, EYA1
organ morphogenesis (GO:0009887) 3.552SIX1, EYA1
nucleobase-containing compound metabolic process (GO:0006139) 1.352SIX1, EYA1
regulation of developmental process (GO:0050793) 2.12SIX1, EYA1
sensory perception of mechanical stimulus (GO:0050954) 4.792SIX1, EYA1
regulation of biosynthetic process (GO:0009889) 1.372SIX1, EYA1
tissue development (GO:0009888) 3.272SIX1, EYA1
regulation of cellular process (GO:0050794) 0.52SIX1, EYA1
regulation of multicellular organismal process (GO:0051239) 1.872SIX1, EYA1
nucleobase-containing compound biosynthetic process (GO:0034654) 1.722SIX1, EYA1
positive regulation of macromolecule metabolic process (GO:0010604) 1.812SIX1, EYA1
RNA metabolic process (GO:0016070) 1.592SIX1, EYA1
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592SIX1, EYA1
sensory organ development (GO:0007423) 4.822SIX1, EYA1
regulation of cardioblast proliferation (GO:0003264) 7.532SIX1, EYA1
developmental process (GO:0032502) 1.362SIX1, EYA1
regulation of transcription, DNA-templated (GO:0006355) 1.562SIX1, EYA1
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.392SIX1, EYA1
regulation of nervous system development (GO:0051960) 3.12SIX1, EYA1
transcription, DNA-templated (GO:0006351) 1.912SIX1, EYA1
aorta morphogenesis (GO:0035909) 6.842SIX1, EYA1
RNA biosynthetic process (GO:0032774) 1.842SIX1, EYA1
cell differentiation (GO:0030154) 2.142SIX1, EYA1
cellular biosynthetic process (GO:0044249) 1.372SIX1, EYA1
cellular nitrogen compound metabolic process (GO:0034641) 1.222SIX1, EYA1
cellular macromolecule biosynthetic process (GO:0034645) 1.662SIX1, EYA1
anatomical structure morphogenesis (GO:0009653) 2.532SIX1, EYA1
single-organism process (GO:0044699) 0.482SIX1, EYA1
regulation of neurogenesis (GO:0050767) 3.212SIX1, EYA1
cell fate specification (GO:0001708) 5.572SIX1, EYA1
regulation of anatomical structure morphogenesis (GO:0022603) 2.792SIX1, EYA1
regulation of cell development (GO:0060284) 3.012SIX1, EYA1
positive regulation of cell proliferation (GO:0008284) 3.012SIX1, EYA1
multicellular organismal process (GO:0032501) 1.452SIX1, EYA1
tube morphogenesis (GO:0035239) 4.352SIX1, EYA1
regulation of macromolecule biosynthetic process (GO:0010556) 1.432SIX1, EYA1
neurological system process (GO:0050877) 2.642SIX1, EYA1
cellular process (GO:0009987) 0.262SIX1, EYA1
cellular aromatic compound metabolic process (GO:0006725) 1.32SIX1, EYA1
regulation of nucleic acid-templated transcription (GO:1903506) 1.552SIX1, EYA1
regulation of cell differentiation (GO:0045595) 2.422SIX1, EYA1
mesonephric epithelium development (GO:0072163) 5.82SIX1, EYA1
mesonephric tubule development (GO:0072164) 5.822SIX1, EYA1
positive regulation of transcription, DNA-templated (GO:0045893) 2.562SIX1, EYA1
ureteric bud development (GO:0001657) 5.972SIX1, EYA1
branching involved in ureteric bud morphogenesis (GO:0001658) 5.972SIX1, EYA1
inner ear development (GO:0048839) 5.762SIX1, EYA1
regulation of epithelial cell proliferation (GO:0050678) 4.062SIX1, EYA1
positive regulation of secondary heart field cardioblast proliferation (GO:0072513) 8.342SIX1, EYA1
regulation of RNA metabolic process (GO:0051252) 1.522SIX1, EYA1
positive regulation of RNA metabolic process (GO:0051254) 2.512SIX1, EYA1
macromolecule metabolic process (GO:0043170) 0.832SIX1, EYA1
positive regulation of RNA biosynthetic process (GO:1902680) 2.542SIX1, EYA1
nitrogen compound metabolic process (GO:0006807) 1.132SIX1, EYA1
positive regulation of transcription from RNA polymerase II promoter (GO:0045944) 2.812SIX1, EYA1
system development (GO:0048731) 2.922SIX1, EYA1
positive regulation of nucleic acid-templated transcription (GO:1903508) 2.562SIX1, EYA1
positive regulation of cellular biosynthetic process (GO:0031328) 2.32SIX1, EYA1
regulation of cellular biosynthetic process (GO:0031326) 1.382SIX1, EYA1
positive regulation of cellular metabolic process (GO:0031325) 1.812SIX1, EYA1
regulation of cellular metabolic process (GO:0031323) 1.072SIX1, EYA1
branching morphogenesis of an epithelial tube (GO:0048754) 4.932SIX1, EYA1
nucleic acid metabolic process (GO:0090304) 1.462SIX1, EYA1
striated muscle tissue development (GO:0014706) 5.232SIX1, EYA1
regulation of cell death (GO:0010941) 2.432SIX1, EYA1
multicellular organism development (GO:0007275) 2.542SIX1, EYA1
pattern specification process (GO:0007389) 3.792SIX1, EYA1
artery morphogenesis (GO:0048844) 5.882SIX1, EYA1
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462SIX1, EYA1
kidney epithelium development (GO:0072073) 5.542SIX1, EYA1
organic substance metabolic process (GO:0071704) 0.632SIX1, EYA1
regulation of programmed cell death (GO:0043067) 2.492SIX1, EYA1
negative regulation of apoptotic process (GO:0043066) 3.042SIX1, EYA1
tissue morphogenesis (GO:0048729) 3.872SIX1, EYA1
negative regulation of programmed cell death (GO:0043069) 3.022SIX1, EYA1
regulation of gene expression (GO:0010468) 1.372SIX1, EYA1
embryonic morphogenesis (GO:0048598) 3.722SIX1, EYA1
epithelium development (GO:0060429) 4.572SIX1, EYA1
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.352SIX1, EYA1
morphogenesis of a branching epithelium (GO:0061138) 4.772SIX1, EYA1
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432SIX1, EYA1
pharyngeal system development (GO:0060037) 6.962SIX1, EYA1
cellular protein localization (GO:0034613) 3.112SIX1, EYA1
single-organism developmental process (GO:0044767) 1.492SIX1, EYA1
biosynthetic process (GO:0009058) 1.322SIX1, EYA1
macromolecule biosynthetic process (GO:0009059) 1.612SIX1, EYA1
single-organism cellular process (GO:0044763) 0.652SIX1, EYA1
regulation of nitrogen compound metabolic process (GO:0051171) 1.362SIX1, EYA1
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.292SIX1, EYA1
tube development (GO:0035295) 4.412SIX1, EYA1
regulation of heart morphogenesis (GO:2000826) 6.42SIX1, EYA1
localization (GO:0051179) 1.42SIX1, EYA1
cellular localization (GO:0051641) 2.322SIX1, EYA1
primary metabolic process (GO:0044238) 0.692SIX1, EYA1
inner ear morphogenesis (GO:0042472) 5.622SIX1, EYA1
middle ear morphogenesis (GO:0042474) 6.732SIX1, EYA1
anatomical structure development (GO:0048856) 1.582SIX1, EYA1
cellular metabolic process (GO:0044237) 0.692SIX1, EYA1
cellular macromolecule localization (GO:0070727) 3.12SIX1, EYA1
regulation of multicellular organismal development (GO:2000026) 2.312SIX1, EYA1
regulation of organ morphogenesis (GO:2000027) 4.222SIX1, EYA1
muscle tissue development (GO:0060537) 5.12SIX1, EYA1
negative regulation of cellular process (GO:0048523) 1.412SIX1, EYA1
positive regulation of cellular process (GO:0048522) 1.32SIX1, EYA1

NET-GE enrichment

Term New enriched termICP valueGenes
embryonic organ morphogenesis (GO:0048562) -4.920.014SIX1, EYA1
establishment or maintenance of bipolar cell polarity (GO:0061245) NEW6.150.005SIX1, EYA1
branching morphogenesis of an epithelial tube (GO:0048754) -4.930.018SIX1, EYA1
striated muscle tissue development (GO:0014706) -5.230.007SIX1, EYA1
morphogenesis of a branching structure (GO:0001763) -4.710.027SIX1, EYA1
outflow tract morphogenesis (GO:0003151) -5.970.016SIX1, EYA1
establishment or maintenance of apical/basal cell polarity (GO:0035088) NEW6.150.005SIX1, EYA1
regulation of secondary heart field cardioblast proliferation (GO:0003266) -7.650.0SIX1, EYA1
regulation of cell proliferation involved in heart morphogenesis (GO:2000136) -7.020.0SIX1, EYA1
regulation of organ formation (GO:0003156) -6.260.005SIX1, EYA1
anterior/posterior axis specification (GO:0009948) NEW6.170.009SIX1, EYA1
artery morphogenesis (GO:0048844) -5.880.002SIX1, EYA1
kidney development (GO:0001822) -4.790.013SIX1, EYA1
blood vessel morphogenesis (GO:0048514) -5.320.005SIX1, EYA1
thyroid gland development (GO:0030878) NEW6.470.003SIX1, EYA1
skeletal system morphogenesis (GO:0048705) -4.980.011SIX1, EYA1
embryonic skeletal system morphogenesis (GO:0048704) -5.310.006SIX1, EYA1
neuron fate specification (GO:0048665) -6.590.008SIX1, EYA1
morphogenesis of a branching epithelium (GO:0061138) -4.770.024SIX1, EYA1
sensory perception of sound (GO:0007605) -4.820.015SIX1, EYA1
sensory perception of mechanical stimulus (GO:0050954) -4.790.015SIX1, EYA1
pharyngeal system development (GO:0060037) -6.960.0SIX1, EYA1
branching involved in ureteric bud morphogenesis (GO:0001658) -5.970.002SIX1, EYA1
regulation of heart morphogenesis (GO:2000826) -6.40.0SIX1, EYA1
cochlea morphogenesis (GO:0090103) -6.640.005SIX1, EYA1
inner ear morphogenesis (GO:0042472) -5.620.045SIX1, EYA1
middle ear morphogenesis (GO:0042474) -6.730.004SIX1, EYA1
positive regulation of secondary heart field cardioblast proliferation (GO:0072513) -8.340.0SIX1, EYA1
otic vesicle morphogenesis (GO:0071600) NEW9.730.0SIX1, EYA1
regulation of cardioblast proliferation (GO:0003264) -7.530.0SIX1, EYA1
regulation of organ morphogenesis (GO:2000027) -4.220.021SIX1, EYA1
muscle tissue development (GO:0060537) -5.10.009SIX1, EYA1
aorta morphogenesis (GO:0035909) -6.840.003SIX1, EYA1
cell fate specification (GO:0001708) -5.570.003SIX1, EYA1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.012SIX1, EYA1
protein complex (GO:0043234) 1.512SIX1, EYA1
macromolecular complex (GO:0032991) 1.352SIX1, EYA1
intracellular membrane-bounded organelle (GO:0043231) 0.62SIX1, EYA1
nucleus (GO:0005634) 1.072SIX1, EYA1
cell part (GO:0044464) 0.112SIX1, EYA1
intracellular organelle part (GO:0044446) 0.812SIX1, EYA1
intracellular organelle (GO:0043229) 0.512SIX1, EYA1
nuclear part (GO:0044428) 1.552SIX1, EYA1
intracellular part (GO:0044424) 0.282SIX1, EYA1
membrane-bounded organelle (GO:0043227) 0.472SIX1, EYA1
organelle (GO:0043226) 0.42SIX1, EYA1
organelle part (GO:0044422) 0.792SIX1, EYA1

NET-GE enrichment

Term New enriched termICP valueGenes
nuclear chromosome part (GO:0044454) NEW3.670.032SIX1, EYA1
nuclear chromatin (GO:0000790) NEW4.420.009SIX1, EYA1
chromatin (GO:0000785) NEW3.990.025SIX1, EYA1