Disease table of OTOFACIOCERVICAL SYNDROME OMIM ID: PS166780

Gene-disease associations table

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Gene	Associated with OTOFACIOCERVICAL SYNDROME in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
EYA1	ClinVar, OMIM	HGNC link	8q13.3	3	PS166780, 113650, 602588
PAX1	ClinVar, OMIM, HUMSAVAR	HGNC link	20p11.22	1	PS166780

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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
PAX1	YES	1	PDGFRA	0

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Interactions from BIOGRID - physical

Interactions from BIOGRID - genetic

Interactions from STRING

Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
PAX1	EYA1	No	-	1	BMP4

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)

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GO	IC	Number of genes with the same GO	Genes
nucleic acid binding (GO:0003676)	1.44	2	PAX1, EYA1
heterocyclic compound binding (GO:1901363)	1.06	2	PAX1, EYA1
organic cyclic compound binding (GO:0097159)	1.05	2	PAX1, EYA1
binding (GO:0005488)	0.18	2	EYA1, PAX1

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GO - biological process annotation: shared terms (no NET-GE enrichment)

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GO	IC	Number of genes with the same GO	Genes
pattern specification process (GO:0007389)	3.79	2	PAX1, EYA1
organ morphogenesis (GO:0009887)	3.55	2	PAX1, EYA1
tissue development (GO:0009888)	3.27	2	PAX1, EYA1
system development (GO:0048731)	2.92	2	PAX1, EYA1
positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	2.81	2	PAX1, EYA1
positive regulation of nucleic acid-templated transcription (GO:1903508)	2.56	2	PAX1, EYA1
positive regulation of transcription, DNA-templated (GO:0045893)	2.56	2	PAX1, EYA1
multicellular organism development (GO:0007275)	2.54	2	EYA1, PAX1
positive regulation of RNA biosynthetic process (GO:1902680)	2.54	2	PAX1, EYA1
anatomical structure morphogenesis (GO:0009653)	2.53	2	EYA1, PAX1

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GO - cellular component annotation: shared terms (no NET-GE enrichment)

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GO	IC	Number of genes with the same GO	Genes
nucleus (GO:0005634)	1.07	2	PAX1, EYA1
intracellular membrane-bounded organelle (GO:0043231)	0.6	2	EYA1, PAX1
intracellular organelle (GO:0043229)	0.51	2	PAX1, EYA1
membrane-bounded organelle (GO:0043227)	0.47	2	EYA1, PAX1
organelle (GO:0043226)	0.4	2	PAX1, EYA1
intracellular part (GO:0044424)	0.28	2	EYA1, PAX1
cell part (GO:0044464)	0.11	2	EYA1, PAX1

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