Disease table of MOYAMOYA DISEASE OMIM ID: PS252350

Gene-disease associations table

GeneAssociated with MOYAMOYA DISEASE inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
ACTA2ClinVar, OMIM, HUMSAVARHGNC link10q23.313613834, PS607086, PS252350
GUCY1A3ClinVar, OMIMHGNC link4q32.11PS252350
RNF213ClinVar, OMIM, HUMSAVARHGNC link17q25.31PS252350

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
ACTA2YES2HEY1, HEY20
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
ACTA2GUCY1A3No2COPS5, TP53
ACTA2RNF213No2MCM2, EGFR

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
ACTA2RNF213No-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

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Vascular smooth muscle contractionhsa042705.742GUCY1A3, ACTA2

NET-GE enrichment

Term New enriched termICP valueGenes
Circulatory systemNEW4.630.037GUCY1A3, ACTA2
Vascular smooth muscle contraction (hsa04270) -5.740.033GUCY1A3, ACTA2
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) 0.183GUCY1A3, RNF213, ACTA2
protein binding (GO:0005515) 0.463GUCY1A3, RNF213, ACTA2
catalytic activity (GO:0003824) 1.052GUCY1A3, RNF213
purine ribonucleoside triphosphate binding (GO:0035639) 2.222GUCY1A3, ACTA2
organic cyclic compound binding (GO:0097159) 1.052GUCY1A3, ACTA2
nucleotide binding (GO:0000166) 1.962GUCY1A3, ACTA2
small molecule binding (GO:0036094) 1.892GUCY1A3, ACTA2
carbohydrate derivative binding (GO:0097367) 2.032GUCY1A3, ACTA2
purine ribonucleoside binding (GO:0032550) 2.222GUCY1A3, ACTA2
ribonucleotide binding (GO:0032553) 2.192GUCY1A3, ACTA2
nucleoside phosphate binding (GO:1901265) 1.962GUCY1A3, ACTA2
ribonucleoside binding (GO:0032549) 2.222GUCY1A3, ACTA2
purine ribonucleotide binding (GO:0032555) 2.22GUCY1A3, ACTA2
purine nucleotide binding (GO:0017076) 2.192GUCY1A3, ACTA2
ion binding (GO:0043167) 1.362GUCY1A3, RNF213
heterocyclic compound binding (GO:1901363) 1.062GUCY1A3, ACTA2
purine nucleoside binding (GO:0001883) 2.222GUCY1A3, ACTA2
nucleoside binding (GO:0001882) 2.212GUCY1A3, ACTA2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.263GUCY1A3, RNF213, ACTA2
biological regulation (GO:0065007) 0.393GUCY1A3, RNF213, ACTA2
regulation of biological process (GO:0050789) 0.453GUCY1A3, RNF213, ACTA2
single-organism process (GO:0044699) 0.483GUCY1A3, RNF213, ACTA2
positive regulation of metabolic process (GO:0009893) 1.742GUCY1A3, ACTA2
regulation of metabolic process (GO:0019222) 1.022GUCY1A3, ACTA2
muscle system process (GO:0003012) 4.182GUCY1A3, ACTA2
circulatory system process (GO:0003013) 4.382GUCY1A3, ACTA2
regulation of blood pressure (GO:0008217) 4.722GUCY1A3, ACTA2
response to external biotic stimulus (GO:0043207) 3.132GUCY1A3, ACTA2
interspecies interaction between organisms (GO:0044419) 3.082GUCY1A3, ACTA2
organic substance metabolic process (GO:0071704) 0.632GUCY1A3, RNF213
positive regulation of biological process (GO:0048518) 1.22GUCY1A3, ACTA2
negative regulation of biological process (GO:0048519) 1.332GUCY1A3, RNF213
regulation of biological quality (GO:0065008) 1.682GUCY1A3, ACTA2
developmental process (GO:0032502) 1.362RNF213, ACTA2
multicellular organismal process (GO:0032501) 1.452GUCY1A3, ACTA2
system process (GO:0003008) 2.32GUCY1A3, ACTA2
regulation of cellular process (GO:0050794) 0.52GUCY1A3, RNF213
single-organism developmental process (GO:0044767) 1.492RNF213, ACTA2
single-organism cellular process (GO:0044763) 0.652GUCY1A3, ACTA2
metabolic process (GO:0008152) 0.582GUCY1A3, RNF213
response to other organism (GO:0051707) 3.482GUCY1A3, ACTA2
multi-organism process (GO:0051704) 2.652GUCY1A3, ACTA2
primary metabolic process (GO:0044238) 0.692GUCY1A3, RNF213
response to biotic stimulus (GO:0009607) 3.092GUCY1A3, ACTA2
response to external stimulus (GO:0009605) 2.552GUCY1A3, ACTA2
response to stimulus (GO:0050896) 1.222GUCY1A3, ACTA2
cellular metabolic process (GO:0044237) 0.692GUCY1A3, RNF213

NET-GE enrichment

Term New enriched termICP valueGenes
circulatory system process (GO:0003013) -4.380.03GUCY1A3, ACTA2
regulation of blood pressure (GO:0008217) -4.720.031GUCY1A3, ACTA2
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.013GUCY1A3, RNF213, ACTA2
intracellular part (GO:0044424) 0.283GUCY1A3, RNF213, ACTA2
cytoplasmic part (GO:0044444) 0.823GUCY1A3, RNF213, ACTA2
cell part (GO:0044464) 0.113GUCY1A3, RNF213, ACTA2
protein complex (GO:0043234) 1.512GUCY1A3, ACTA2
macromolecular complex (GO:0032991) 1.352GUCY1A3, ACTA2
intracellular non-membrane-bounded organelle (GO:0043232) 1.762RNF213, ACTA2
cytosol (GO:0005829) 1.682RNF213, ACTA2
membrane (GO:0016020) 0.682GUCY1A3, RNF213
intracellular organelle (GO:0043229) 0.512RNF213, ACTA2
non-membrane-bounded organelle (GO:0043228) 1.762RNF213, ACTA2
organelle (GO:0043226) 0.42RNF213, ACTA2
organelle part (GO:0044422) 0.792RNF213, ACTA2