Disease table of MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE OMIM ID: 248000

Gene-disease associations table

GeneAssociated with MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
TBC1D7OMIMHGNC link6p24.11248000
FIBPClinVarHGNC link11q13.12120200, 248000
ARHGAP11AClinVarHGNC link15q13.31248000
FAM177A1ClinVarHGNC link14q13.21248000

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
TBC1D7FIBPNo1APP

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

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
FIBPFAM177A1No-1UBC

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

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

GOICNumber of genes with the same GOGenes
enzyme regulator activity (GO:0030234) 2.852ARHGAP11A, TBC1D7
GTPase activator activity (GO:0005096) 4.112ARHGAP11A, TBC1D7
GTPase regulator activity (GO:0030695) 4.012ARHGAP11A, TBC1D7
binding (GO:0005488) 0.182FIBP, TBC1D7
protein binding (GO:0005515) 0.462FIBP, TBC1D7
molecular function regulator (GO:0098772) 2.512ARHGAP11A, TBC1D7
nucleoside-triphosphatase regulator activity (GO:0060589) 3.922ARHGAP11A, TBC1D7
enzyme activator activity (GO:0008047) 3.562ARHGAP11A, TBC1D7

NET-GE enrichment

Term New enriched termICP valueGenes
nucleoside-triphosphatase regulator activity (GO:0060589) -3.920.02ARHGAP11A, TBC1D7
GTPase regulator activity (GO:0030695) -4.010.018ARHGAP11A, TBC1D7
GTPase activator activity (GO:0005096) -4.110.013ARHGAP11A, TBC1D7
enzyme activator activity (GO:0008047) -3.560.034ARHGAP11A, TBC1D7
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
biological regulation (GO:0065007) 0.393FIBP, ARHGAP11A, TBC1D7
regulation of biological process (GO:0050789) 0.453FIBP, ARHGAP11A, TBC1D7
regulation of cellular process (GO:0050794) 0.53FIBP, ARHGAP11A, TBC1D7
regulation of hydrolase activity (GO:0051336) 2.532ARHGAP11A, TBC1D7
regulation of intracellular signal transduction (GO:1902531) 2.312ARHGAP11A, TBC1D7
positive regulation of GTPase activity (GO:0043547) 3.282ARHGAP11A, TBC1D7
positive regulation of hydrolase activity (GO:0051345) 2.912ARHGAP11A, TBC1D7
regulation of signal transduction (GO:0009966) 1.842ARHGAP11A, TBC1D7
regulation of catalytic activity (GO:0050790) 1.972ARHGAP11A, TBC1D7
regulation of response to stimulus (GO:0048583) 1.542ARHGAP11A, TBC1D7
signal transduction (GO:0007165) 1.282FIBP, ARHGAP11A
positive regulation of molecular function (GO:0044093) 2.232ARHGAP11A, TBC1D7
regulation of signaling (GO:0023051) 1.722ARHGAP11A, TBC1D7
regulation of molecular function (GO:0065009) 1.782ARHGAP11A, TBC1D7
regulation of cell communication (GO:0010646) 1.732ARHGAP11A, TBC1D7
regulation of GTPase activity (GO:0043087) 3.212ARHGAP11A, TBC1D7
positive regulation of catalytic activity (GO:0043085) 2.42ARHGAP11A, TBC1D7
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intracellular part (GO:0044424) 0.283FIBP, ARHGAP11A, TBC1D7
cytoplasmic part (GO:0044444) 0.823FIBP, ARHGAP11A, TBC1D7
cell part (GO:0044464) 0.113FIBP, ARHGAP11A, TBC1D7
vesicle (GO:0031982) 1.642FIBP, TBC1D7
membrane-bounded vesicle (GO:0031988) 1.712FIBP, TBC1D7
intracellular organelle (GO:0043229) 0.512FIBP, TBC1D7
membrane-bounded organelle (GO:0043227) 0.472FIBP, TBC1D7
organelle (GO:0043226) 0.42FIBP, TBC1D7
intracellular membrane-bounded organelle (GO:0043231) 0.62FIBP, TBC1D7