Disease table of KLIPPEL-FEIL SYNDROME OMIM ID: PS118100

Gene-disease associations table

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Gene	Associated with KLIPPEL-FEIL SYNDROME in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
GDF3	ClinVar, OMIM, HUMSAVAR	HGNC link	12p13.31	4	PS300345, PS118100, 120200, PS251600
GDF6	ClinVar, OMIM, HUMSAVAR	HGNC link	8q22.1	4	PS300345, PS118100, PS204000, PS251600
MEOX1	ClinVar, OMIM	HGNC link	17q21.31	1	PS118100
MYO18B	ClinVar, OMIM	HGNC link	22q12.1	1	PS118100

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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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regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
GDF3	YES	1	NANOG	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 / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
transforming growth factor beta receptor binding (GO:0005160)	5.81	2	GDF6, GDF3
growth factor activity (GO:0008083)	4.66	2	GDF6, GDF3
cytokine activity (GO:0005125)	4.34	2	GDF6, GDF3
cytokine receptor binding (GO:0005126)	4.14	2	GDF6, GDF3
receptor binding (GO:0005102)	2.43	2	GDF6, GDF3
heterocyclic compound binding (GO:1901363)	1.06	2	MEOX1, MYO18B
organic cyclic compound binding (GO:0097159)	1.05	2	MEOX1, MYO18B
protein binding (GO:0005515)	0.46	4	MEOX1, MYO18B, GDF6, GDF3
binding (GO:0005488)	0.18	4	MEOX1, MYO18B, GDF6, GDF3

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NET-GE enrichment

Term	New enriched term	IC	P value	Genes
growth factor activity (GO:0008083)	-	4.66	0.031	GDF6, GDF3

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 pathway-restricted SMAD protein phosphorylation (GO:0010862)	5.86	2	GDF6, GDF3
embryonic pattern specification (GO:0009880)	5.8	2	MEOX1, GDF3
SMAD protein signal transduction (GO:0060395)	5.65	2	GDF6, GDF3
regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)	5.63	2	GDF6, GDF3
positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090100)	5.12	2	GDF6, GDF3
in utero embryonic development (GO:0001701)	4.4	2	MYO18B, GDF3
regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090092)	4.39	2	GDF6, GDF3
chordate embryonic development (GO:0043009)	4.38	2	MYO18B, GDF3
embryo development ending in birth or egg hatching (GO:0009792)	4.35	2	MYO18B, GDF3
embryo development (GO:0009790)	4.2	2	MYO18B, GDF3

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NET-GE enrichment

Term	New enriched term	IC	P value	Genes
embryonic pattern specification (GO:0009880)	-	5.8	0.009	MEOX1, GDF3

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

Shared terms

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GO	IC	Number of genes with the same GO	Genes
extracellular space (GO:0005615)	2.63	2	GDF6, GDF3
extracellular region (GO:0005576)	2.18	2	GDF6, GDF3
extracellular region part (GO:0044421)	1.57	2	GDF6, GDF3
nucleus (GO:0005634)	1.07	2	MEOX1, MYO18B
cytoplasm (GO:0005737)	1.01	3	MEOX1, MYO18B, GDF3
intracellular membrane-bounded organelle (GO:0043231)	0.6	2	MEOX1, MYO18B
intracellular organelle (GO:0043229)	0.51	2	MEOX1, MYO18B
membrane-bounded organelle (GO:0043227)	0.47	2	MEOX1, MYO18B
organelle (GO:0043226)	0.4	2	MEOX1, MYO18B
intracellular part (GO:0044424)	0.28	3	MEOX1, MYO18B, GDF3

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