Disease table of KABUKI SYNDROME OMIM ID: PS147920

Gene-disease associations table

GeneAssociated with KABUKI SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
KDM6AClinVar, OMIMHGNC linkXp11.31PS147920
KMT2DClinVar, OMIM, HUMSAVARHGNC link12q13.121PS147920

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
KDM6AKMT2DYes7WDR82, WDR5, PAXIP1, RBBP5, HIST2H3C, SMAD9, ASH2L

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

Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Gene1Gene2Direct InteractionComplexesNumber of shared interactorsShared genes in interaction
KDM6AKMT2DYesUTX-MLL2/3 complex10PPP6R3, N4BP2, NCOA6, WDR5, PAXIP1, RBBP5, ZNF281, PROSER1, KMT2C, ASH2L

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

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

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Chromatin organizationR-HSA-48397265.192KMT2D, KDM6A
Chromatin modifying enzymesR-HSA-32475095.192KMT2D, KDM6A

NET-GE enrichment

Term New enriched termICP valueGenes
Chromatin organization (R-HSA-4839726) -5.190.02KMT2D, KDM6A
Chromatin modifying enzymes (R-HSA-3247509) -5.190.02KMT2D, KDM6A
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cation binding (GO:0043169) 1.42KMT2D, KDM6A
protein binding (GO:0005515) 0.462KMT2D, KDM6A
transcription regulatory region DNA binding (GO:0044212) 3.032KMT2D, KDM6A
organic cyclic compound binding (GO:0097159) 1.052KMT2D, KDM6A
regulatory region DNA binding (GO:0000975) 3.032KMT2D, KDM6A
regulatory region nucleic acid binding (GO:0001067) 3.032KMT2D, KDM6A
ion binding (GO:0043167) 1.362KMT2D, KDM6A
catalytic activity (GO:0003824) 1.052KMT2D, KDM6A
binding (GO:0005488) 0.182KMT2D, KDM6A
nucleic acid binding (GO:0003676) 1.442KMT2D, KDM6A
DNA binding (GO:0003677) 1.922KMT2D, KDM6A
metal ion binding (GO:0046872) 1.412KMT2D, KDM6A
heterocyclic compound binding (GO:1901363) 1.062KMT2D, KDM6A

NET-GE enrichment

Term New enriched termICP valueGenes
transcription regulatory region DNA binding (GO:0044212) -3.030.029KMT2D, KDM6A
dioxygenase activity (GO:0051213) NEW5.250.009KMT2D, KDM6A
regulatory region nucleic acid binding (GO:0001067) -3.030.03KMT2D, KDM6A
demethylase activity (GO:0032451) NEW6.210.001KMT2D, KDM6A
histone demethylase activity (GO:0032452) NEW6.480.0KMT2D, KDM6A
regulatory region DNA binding (GO:0000975) -3.030.03KMT2D, KDM6A
histone demethylase activity (H3-K27 specific) (GO:0071558) NEW8.130.034KMT2D, KDM6A
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
protein methylation (GO:0006479) 4.962KMT2D, KDM6A
positive regulation of metabolic process (GO:0009893) 1.742KMT2D, KDM6A
developmental growth (GO:0048589) 4.052KMT2D, KDM6A
peptidyl-lysine methylation (GO:0018022) 5.422KMT2D, KDM6A
macromolecular complex subunit organization (GO:0043933) 2.142KMT2D, KDM6A
protein alkylation (GO:0008213) 4.962KMT2D, KDM6A
positive regulation of gene expression (GO:0010628) 2.352KMT2D, KDM6A
peptidyl-amino acid modification (GO:0018193) 2.982KMT2D, KDM6A
histone H3-K4 methylation (GO:0051568) 6.262KMT2D, KDM6A
regulation of biological process (GO:0050789) 0.452KMT2D, KDM6A
cellular component organization or biogenesis (GO:0071840) 1.222KMT2D, KDM6A
cellular protein metabolic process (GO:0044267) 1.632KMT2D, KDM6A
positive regulation of macromolecule metabolic process (GO:0010604) 1.812KMT2D, KDM6A
cellular macromolecule metabolic process (GO:0044260) 0.932KMT2D, KDM6A
chromatin organization (GO:0006325) 3.282KMT2D, KDM6A
cellular developmental process (GO:0048869) 1.822KMT2D, KDM6A
cellular component organization (GO:0016043) 1.242KMT2D, KDM6A
organic substance metabolic process (GO:0071704) 0.632KMT2D, KDM6A
histone lysine methylation (GO:0034968) 5.572KMT2D, KDM6A
histone methylation (GO:0016571) 5.32KMT2D, KDM6A
histone modification (GO:0016570) 3.912KMT2D, KDM6A
positive regulation of biological process (GO:0048518) 1.22KMT2D, KDM6A
biological regulation (GO:0065007) 0.392KMT2D, KDM6A
methylation (GO:0032259) 4.062KMT2D, KDM6A
regulation of gene expression (GO:0010468) 1.372KMT2D, KDM6A
developmental process (GO:0032502) 1.362KMT2D, KDM6A
regulation of macromolecule metabolic process (GO:0060255) 1.082KMT2D, KDM6A
cellular process (GO:0009987) 0.262KMT2D, KDM6A
cellular protein modification process (GO:0006464) 1.792KMT2D, KDM6A
regulation of cellular process (GO:0050794) 0.52KMT2D, KDM6A
single-organism developmental process (GO:0044767) 1.492KMT2D, KDM6A
macromolecule modification (GO:0043412) 1.732KMT2D, KDM6A
protein modification process (GO:0036211) 1.792KMT2D, KDM6A
macromolecule methylation (GO:0043414) 4.422KMT2D, KDM6A
metabolic process (GO:0008152) 0.582KMT2D, KDM6A
regulation of metabolic process (GO:0019222) 1.022KMT2D, KDM6A
growth (GO:0040007) 3.82KMT2D, KDM6A
primary metabolic process (GO:0044238) 0.692KMT2D, KDM6A
single-organism process (GO:0044699) 0.482KMT2D, KDM6A
peptidyl-lysine modification (GO:0018205) 3.982KMT2D, KDM6A
anatomical structure development (GO:0048856) 1.582KMT2D, KDM6A
cellular metabolic process (GO:0044237) 0.692KMT2D, KDM6A
macromolecule metabolic process (GO:0043170) 0.832KMT2D, KDM6A
protein metabolic process (GO:0019538) 1.452KMT2D, KDM6A
single-organism cellular process (GO:0044763) 0.652KMT2D, KDM6A
chromatin modification (GO:0016568) 4.062KMT2D, KDM6A
covalent chromatin modification (GO:0016569) 3.892KMT2D, KDM6A

NET-GE enrichment

Term New enriched termICP valueGenes
demethylation (GO:0070988) NEW5.740.009KMT2D, KDM6A
protein methylation (GO:0006479) -4.960.007KMT2D, KDM6A
protein demethylation (GO:0006482) NEW6.360.002KMT2D, KDM6A
histone lysine demethylation (GO:0070076) NEW6.550.002KMT2D, KDM6A
protein dealkylation (GO:0008214) NEW6.360.002KMT2D, KDM6A
histone demethylation (GO:0016577) NEW6.430.002KMT2D, KDM6A
protein alkylation (GO:0008213) -4.960.007KMT2D, KDM6A
histone lysine methylation (GO:0034968) -5.570.002KMT2D, KDM6A
histone H3-K27 demethylation (GO:0071557) NEW8.120.0KMT2D, KDM6A
histone methylation (GO:0016571) -5.30.021KMT2D, KDM6A
histone H3-K4 methylation (GO:0051568) -6.260.0KMT2D, KDM6A
macromolecule methylation (GO:0043414) -4.420.018KMT2D, KDM6A
methylation (GO:0032259) -4.060.046KMT2D, KDM6A
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
protein complex (GO:0043234) 1.512KMT2D, KDM6A
nucleoplasm (GO:0005654) 1.892KMT2D, KDM6A
macromolecular complex (GO:0032991) 1.352KMT2D, KDM6A
catalytic complex (GO:1902494) 2.92KMT2D, KDM6A
MLL3/4 complex (GO:0044666) 7.612KMT2D, KDM6A
nucleus (GO:0005634) 1.072KMT2D, KDM6A
cell part (GO:0044464) 0.112KMT2D, KDM6A
histone methyltransferase complex (GO:0035097) 5.542KMT2D, KDM6A
intracellular organelle part (GO:0044446) 0.812KMT2D, KDM6A
intracellular organelle (GO:0043229) 0.512KMT2D, KDM6A
nucleoplasm part (GO:0044451) 3.222KMT2D, KDM6A
organelle part (GO:0044422) 0.792KMT2D, KDM6A
transferase complex (GO:1990234) 3.322KMT2D, KDM6A
intracellular part (GO:0044424) 0.282KMT2D, KDM6A
nuclear part (GO:0044428) 1.552KMT2D, KDM6A
membrane-bounded organelle (GO:0043227) 0.472KMT2D, KDM6A
organelle (GO:0043226) 0.42KMT2D, KDM6A
methyltransferase complex (GO:0034708) 5.32KMT2D, KDM6A
intracellular membrane-bounded organelle (GO:0043231) 0.62KMT2D, KDM6A

NET-GE enrichment

Term New enriched termICP valueGenes
catalytic complex (GO:1902494) -2.90.03KMT2D, KDM6A
histone methyltransferase complex (GO:0035097) -5.540.0KMT2D, KDM6A
chromatin (GO:0000785) NEW3.990.031KMT2D, KDM6A
transferase complex (GO:1990234) -3.320.013KMT2D, KDM6A
nucleoplasm part (GO:0044451) -3.220.02KMT2D, KDM6A
methyltransferase complex (GO:0034708) -5.30.001KMT2D, KDM6A