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

Gene-disease associations table

GeneAssociated with SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
SKIClinVar, OMIM, HUMSAVARHGNC link1p36.331182212
KIF1BPClinVarHGNC link10q22.12609460, 182212

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
SKIYES3RNF111, MDM2, FHL20
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)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.182KIF1BP, SKI
protein binding (GO:0005515) 0.462KIF1BP, SKI
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.362KIF1BP, SKI
multicellular organismal process (GO:0032501) 1.452KIF1BP, SKI
single-multicellular organism process (GO:0044707) 1.782KIF1BP, SKI
cellular developmental process (GO:0048869) 1.822KIF1BP, SKI
cellular process (GO:0009987) 0.262KIF1BP, SKI
single-organism developmental process (GO:0044767) 1.492KIF1BP, SKI
single-organism cellular process (GO:0044763) 0.652KIF1BP, SKI
cell differentiation (GO:0030154) 2.142KIF1BP, SKI
single-organism process (GO:0044699) 0.482KIF1BP, SKI
anatomical structure development (GO:0048856) 1.582KIF1BP, SKI

NET-GE enrichment

Term New enriched termICP valueGenes
negative regulation of cysteine-type endopeptidase activity (GO:2000117) NEW5.250.037KIF1BP, SKI
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154) NEW5.290.035KIF1BP, SKI
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.012KIF1BP, SKI
intracellular membrane-bounded organelle (GO:0043231) 0.62KIF1BP, SKI
intracellular non-membrane-bounded organelle (GO:0043232) 1.762KIF1BP, SKI
cell part (GO:0044464) 0.112KIF1BP, SKI
intracellular organelle (GO:0043229) 0.512KIF1BP, SKI
non-membrane-bounded organelle (GO:0043228) 1.762KIF1BP, SKI
intracellular part (GO:0044424) 0.282KIF1BP, SKI
membrane-bounded organelle (GO:0043227) 0.472KIF1BP, SKI
organelle (GO:0043226) 0.42KIF1BP, SKI