Disease table of ATELOSTEOGENESIS OMIM ID: PS108720

Gene-disease associations table

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Gene	Associated with ATELOSTEOGENESIS in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
FLNB	ClinVar, OMIM, HUMSAVAR	HGNC link	3p14.3	4	272460, PS108720, 150250, 112310
SLC26A2	ClinVar, OMIM, HUMSAVAR	HGNC link	5q32	4	PS132400, 222600, PS200600, PS108720

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Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

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 / NET-GE enrichment (no shared terms)

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

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GO	IC	Number of genes with the same GO	Genes
single-organism localization (GO:1902578)	2.09	2	FLNB, SLC26A2
single-multicellular organism process (GO:0044707)	1.78	2	SLC26A2, FLNB
regulation of biological quality (GO:0065008)	1.68	2	SLC26A2, FLNB
multicellular organismal process (GO:0032501)	1.45	2	SLC26A2, FLNB
localization (GO:0051179)	1.4	2	FLNB, SLC26A2
single-organism cellular process (GO:0044763)	0.65	2	SLC26A2, FLNB
single-organism process (GO:0044699)	0.48	2	SLC26A2, FLNB
biological regulation (GO:0065007)	0.39	2	SLC26A2, FLNB
cellular process (GO:0009987)	0.26	2	FLNB, SLC26A2

Showing 1 to 9 of 9 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
extracellular organelle (GO:0043230)	1.89	2	FLNB, SLC26A2
extracellular exosome (GO:0070062)	1.89	2	SLC26A2, FLNB
extracellular vesicle (GO:1903561)	1.89	2	SLC26A2, FLNB
membrane-bounded vesicle (GO:0031988)	1.71	2	FLNB, SLC26A2
vesicle (GO:0031982)	1.64	2	SLC26A2, FLNB
extracellular region part (GO:0044421)	1.57	2	SLC26A2, FLNB
plasma membrane (GO:0005886)	1.39	2	FLNB, SLC26A2
integral component of membrane (GO:0016021)	1.14	2	FLNB, SLC26A2
intrinsic component of membrane (GO:0031224)	1.13	2	SLC26A2, FLNB
membrane part (GO:0044425)	0.95	2	SLC26A2, FLNB

Showing 1 to 10 of 14 entries