Disease table of BRANCHIOOTORENAL SYNDROME 1 OMIM ID: 113650

Gene-disease associations table

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Gene	Associated with BRANCHIOOTORENAL SYNDROME 1 in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
EYA1	ClinVar, OMIM, HUMSAVAR	HGNC link	8q13.3	3	PS166780, 113650, 602588
SIX1	ClinVar	HGNC link	14q23.1	3	608389, 113650, PS124900

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Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

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TF	associated to this disease	# regulated genes	Regulated genes	# regulated genes associated with this disease	Regulated genes associated with this disease
SIX1	YES	2	VEGFC, CDH1	0

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Interactions from BIOGRID - physical

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
EYA1	SIX1	Yes	1	FZR1

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

Interactions from BIOGRID - genetic

Interactions from STRING

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Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
EYA1	SIX1	Yes	activation, binding	5	PAX3, PAX6, PAX7, DACH1, PAX2

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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

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Gene1	Gene2	Direct interaction	More information
EYA1	SIX1	yes, they interact	The protein product of EYA1 functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5. [UniProt]

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KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG term	KEGG term ID	IC	Number of genes with the same term	Genes
Transcriptional misregulation in cancer	hsa05202	5.21	2	SIX1, EYA1

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Transcriptional misregulation in cancer (hsa05202)	-	5.21	0.003	SIX1, EYA1

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

GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

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GO	IC	Number of genes with the same GO	Genes
nucleic acid binding (GO:0003676)	1.44	2	SIX1, EYA1
heterocyclic compound binding (GO:1901363)	1.06	2	SIX1, EYA1
organic cyclic compound binding (GO:0097159)	1.05	2	SIX1, EYA1
protein binding (GO:0005515)	0.46	2	SIX1, EYA1
binding (GO:0005488)	0.18	2	SIX1, EYA1

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GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
positive regulation of secondary heart field cardioblast proliferation (GO:0072513)	8.34	2	SIX1, EYA1
otic vesicle development (GO:0071599)	7.78	2	SIX1, EYA1
regulation of secondary heart field cardioblast proliferation (GO:0003266)	7.65	2	SIX1, EYA1
regulation of cardioblast proliferation (GO:0003264)	7.53	2	SIX1, EYA1
regulation of cell proliferation involved in heart morphogenesis (GO:2000136)	7.02	2	SIX1, EYA1
pharyngeal system development (GO:0060037)	6.96	2	SIX1, EYA1
aorta morphogenesis (GO:0035909)	6.84	2	SIX1, EYA1
middle ear morphogenesis (GO:0042474)	6.73	2	SIX1, EYA1
cochlea morphogenesis (GO:0090103)	6.64	2	SIX1, EYA1
neuron fate specification (GO:0048665)	6.59	2	SIX1, EYA1

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
otic vesicle morphogenesis (GO:0071600)	NEW	9.73	0.0	SIX1, EYA1
positive regulation of secondary heart field cardioblast proliferation (GO:0072513)	-	8.34	0.0	SIX1, EYA1
regulation of secondary heart field cardioblast proliferation (GO:0003266)	-	7.65	0.0	SIX1, EYA1
regulation of cardioblast proliferation (GO:0003264)	-	7.53	0.0	SIX1, EYA1
regulation of cell proliferation involved in heart morphogenesis (GO:2000136)	-	7.02	0.0	SIX1, EYA1
pharyngeal system development (GO:0060037)	-	6.96	0.0	SIX1, EYA1
aorta morphogenesis (GO:0035909)	-	6.84	0.003	SIX1, EYA1
middle ear morphogenesis (GO:0042474)	-	6.73	0.004	SIX1, EYA1
cochlea morphogenesis (GO:0090103)	-	6.64	0.005	SIX1, EYA1
neuron fate specification (GO:0048665)	-	6.59	0.008	SIX1, EYA1

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GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
nuclear part (GO:0044428)	1.55	2	SIX1, EYA1
protein complex (GO:0043234)	1.51	2	SIX1, EYA1
macromolecular complex (GO:0032991)	1.35	2	SIX1, EYA1
nucleus (GO:0005634)	1.07	2	SIX1, EYA1
cytoplasm (GO:0005737)	1.01	2	SIX1, EYA1
intracellular organelle part (GO:0044446)	0.81	2	SIX1, EYA1
organelle part (GO:0044422)	0.79	2	SIX1, EYA1
intracellular membrane-bounded organelle (GO:0043231)	0.6	2	SIX1, EYA1
intracellular organelle (GO:0043229)	0.51	2	SIX1, EYA1
membrane-bounded organelle (GO:0043227)	0.47	2	SIX1, EYA1

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
nuclear chromatin (GO:0000790)	NEW	4.42	0.009	SIX1, EYA1
chromatin (GO:0000785)	NEW	3.99	0.025	SIX1, EYA1
nuclear chromosome part (GO:0044454)	NEW	3.67	0.032	SIX1, EYA1

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