Disease table of SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME OMIM ID: 182212

Gene-disease associations table

Show entries

Search:

Gene	Associated with SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
KIF1BP	ClinVar	HGNC link	10q22.1	2	609460, 182212
SKI	ClinVar, OMIM, HUMSAVAR	HGNC link	1p36.33	1	182212

Showing 1 to 2 of 2 entries

Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

Show entries

Search:

TF	associated to this disease	# regulated genes	Regulated genes	# regulated genes associated with this disease	Regulated genes associated with this disease
SKI	YES	3	RNF111, MDM2, FHL2	0

Showing 1 to 1 of 1 entries

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)

GO	IC	Number of genes with the same GO	Genes
protein binding (GO:0005515)	0.46	2	KIF1BP, SKI
binding (GO:0005488)	0.18	2	KIF1BP, SKI

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

Show entries

Search:

GO	IC	Number of genes with the same GO	Genes
cell differentiation (GO:0030154)	2.14	2	KIF1BP, SKI
cellular developmental process (GO:0048869)	1.82	2	KIF1BP, SKI
single-multicellular organism process (GO:0044707)	1.78	2	KIF1BP, SKI
anatomical structure development (GO:0048856)	1.58	2	KIF1BP, SKI
single-organism developmental process (GO:0044767)	1.49	2	KIF1BP, SKI
multicellular organismal process (GO:0032501)	1.45	2	KIF1BP, SKI
developmental process (GO:0032502)	1.36	2	KIF1BP, SKI
single-organism cellular process (GO:0044763)	0.65	2	KIF1BP, SKI
single-organism process (GO:0044699)	0.48	2	KIF1BP, SKI
cellular process (GO:0009987)	0.26	2	KIF1BP, SKI

Showing 1 to 10 of 10 entries

Show entries

Search:

Term	New enriched term	IC	P value	Genes
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)	NEW	5.29	0.035	KIF1BP, SKI
negative regulation of cysteine-type endopeptidase activity (GO:2000117)	NEW	5.25	0.037	KIF1BP, SKI

Showing 1 to 2 of 2 entries

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

Show entries

Search:

GO	IC	Number of genes with the same GO	Genes
intracellular non-membrane-bounded organelle (GO:0043232)	1.76	2	KIF1BP, SKI
non-membrane-bounded organelle (GO:0043228)	1.76	2	KIF1BP, SKI
cytoplasm (GO:0005737)	1.01	2	KIF1BP, SKI
intracellular membrane-bounded organelle (GO:0043231)	0.6	2	KIF1BP, SKI
intracellular organelle (GO:0043229)	0.51	2	KIF1BP, SKI
membrane-bounded organelle (GO:0043227)	0.47	2	KIF1BP, SKI
organelle (GO:0043226)	0.4	2	KIF1BP, SKI
intracellular part (GO:0044424)	0.28	2	KIF1BP, SKI
cell part (GO:0044464)	0.11	2	KIF1BP, SKI

Showing 1 to 9 of 9 entries