Disease table of OPITZ GBBB SYNDROME OMIM ID: PS300000

Gene-disease associations table

GeneAssociated with OPITZ GBBB SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
SPECC1LClinVar, OMIM, HUMSAVARHGNC link22q11.232PS300000, 600251
MID1ClinVar, OMIM, HUMSAVARHGNC linkXp22.21PS300000

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
SPECC1LMID1No1UBC

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

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 / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.262MID1, SPECC1L
single-organism cellular process (GO:0044763) 0.652MID1, SPECC1L
single-organism process (GO:0044699) 0.482MID1, SPECC1L

NET-GE enrichment

Term New enriched termICP valueGenes
regulation of microtubule polymerization or depolymerization (GO:0031110) NEW5.740.004MID1, SPECC1L
negative regulation of microtubule polymerization or depolymerization (GO:0031111) NEW6.290.001MID1, SPECC1L
negative regulation of cytoskeleton organization (GO:0051494) NEW5.010.015MID1, SPECC1L
regulation of microtubule depolymerization (GO:0031114) NEW6.590.0MID1, SPECC1L
negative regulation of microtubule depolymerization (GO:0007026) NEW6.680.0MID1, SPECC1L
regulation of protein depolymerization (GO:1901879) NEW5.440.007MID1, SPECC1L
regulation of cytoskeleton organization (GO:0051493) NEW3.720.035MID1, SPECC1L
negative regulation of organelle organization (GO:0010639) NEW4.070.015MID1, SPECC1L
negative regulation of protein depolymerization (GO:1901880) NEW5.70.003MID1, SPECC1L
regulation of protein complex disassembly (GO:0043244) NEW5.270.01MID1, SPECC1L
regulation of microtubule-based process (GO:0032886) NEW4.790.03MID1, SPECC1L
regulation of microtubule cytoskeleton organization (GO:0070507) NEW4.980.02MID1, SPECC1L
negative regulation of protein complex disassembly (GO:0043242) NEW5.650.001MID1, SPECC1L
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cytoskeleton (GO:0005856) 2.552MID1, SPECC1L
cytoplasm (GO:0005737) 1.012MID1, SPECC1L
spindle (GO:0005819) 4.522MID1, SPECC1L
intracellular non-membrane-bounded organelle (GO:0043232) 1.762MID1, SPECC1L
cell part (GO:0044464) 0.112MID1, SPECC1L
intracellular organelle part (GO:0044446) 0.812MID1, SPECC1L
intracellular organelle (GO:0043229) 0.512MID1, SPECC1L
non-membrane-bounded organelle (GO:0043228) 1.762MID1, SPECC1L
cytoskeletal part (GO:0044430) 2.492MID1, SPECC1L
intracellular part (GO:0044424) 0.282MID1, SPECC1L
organelle (GO:0043226) 0.42MID1, SPECC1L
organelle part (GO:0044422) 0.792MID1, SPECC1L

NET-GE enrichment

Term New enriched termICP valueGenes
spindle (GO:0005819) -4.520.001MID1, SPECC1L