Disease table of SOTOS SYNDROME OMIM ID: PS117550

Gene-disease associations table

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Gene	Associated with SOTOS SYNDROME in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
NFIX	ClinVar, OMIM, HUMSAVAR	HGNC link	19p13.13	2	PS117550, 602535
NSD1	ClinVar, OMIM, HUMSAVAR	HGNC link	5q35.3	3	601626, 130650, PS117550

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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
NSD1	YES	1	AR	0
NFIX	YES	2	CDKN1A, CHI3L1	0

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Interactions from BIOGRID - physical

Interactions from BIOGRID - genetic

Interactions from STRING

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
DNA binding (GO:0003677)	1.92	2	NFIX, NSD1
nucleic acid binding (GO:0003676)	1.44	2	NFIX, NSD1
heterocyclic compound binding (GO:1901363)	1.06	2	NFIX, NSD1
organic cyclic compound binding (GO:0097159)	1.05	2	NFIX, NSD1
protein binding (GO:0005515)	0.46	2	NFIX, NSD1
binding (GO:0005488)	0.18	2	NFIX, NSD1

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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
negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	3.12	2	NFIX, NSD1
negative regulation of transcription, DNA-templated (GO:0045892)	2.75	2	NFIX, NSD1
negative regulation of nucleic acid-templated transcription (GO:1903507)	2.71	2	NFIX, NSD1
negative regulation of RNA biosynthetic process (GO:1902679)	2.7	2	NFIX, NSD1
negative regulation of RNA metabolic process (GO:0051253)	2.66	2	NFIX, NSD1
negative regulation of cellular macromolecule biosynthetic process (GO:2000113)	2.6	2	NFIX, NSD1
positive regulation of nucleic acid-templated transcription (GO:1903508)	2.56	2	NFIX, NSD1
positive regulation of transcription, DNA-templated (GO:0045893)	2.56	2	NFIX, NSD1
negative regulation of nucleobase-containing compound metabolic process (GO:0045934)	2.55	2	NFIX, NSD1
positive regulation of RNA biosynthetic process (GO:1902680)	2.54	2	NFIX, NSD1

Showing 1 to 10 of 79 entries

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	NFIX, NSD1
intracellular membrane-bounded organelle (GO:0043231)	0.6	2	NFIX, NSD1
intracellular organelle (GO:0043229)	0.51	2	NFIX, NSD1
membrane-bounded organelle (GO:0043227)	0.47	2	NFIX, NSD1
organelle (GO:0043226)	0.4	2	NFIX, NSD1
intracellular part (GO:0044424)	0.28	2	NFIX, NSD1
cell part (GO:0044464)	0.11	2	NFIX, NSD1

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