Disease table of WIEDEMANN-STEINER SYNDROME OMIM ID: 605130

Gene-disease associations table

GeneAssociated with WIEDEMANN-STEINER SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
SMC1AClinVarHGNC linkXp11.222605130, PS122470
KMT2AClinVar, OMIMHGNC link11q23.32605130, PS122470

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
KMT2AYES1SOX40
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
SMC1AKMT2ANo4SNW1, RNF2, SAP30, POLR2A

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
SMC1AKMT2ANo-8MBD3, HDAC1, HDAC2, RBBP7, SMARCA5, MTA2, RBBP4, CHD3

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: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
TranscriptionNEW5.070.043SMC1A, KMT2A
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
nucleic acid binding (GO:0003676) 1.442SMC1A, KMT2A
organic cyclic compound binding (GO:0097159) 1.052SMC1A, KMT2A
macromolecular complex binding (GO:0044877) 2.612SMC1A, KMT2A
binding (GO:0005488) 0.182SMC1A, KMT2A
protein binding (GO:0005515) 0.462SMC1A, KMT2A
protein dimerization activity (GO:0046983) 2.722SMC1A, KMT2A
chromatin binding (GO:0003682) 3.642SMC1A, KMT2A
heterocyclic compound binding (GO:1901363) 1.062SMC1A, KMT2A

NET-GE enrichment

Term New enriched termICP valueGenes
chromatin binding (GO:0003682) -3.640.035SMC1A, KMT2A
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
response to abiotic stimulus (GO:0009628) 2.82SMC1A, KMT2A
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432SMC1A, KMT2A
regulation of primary metabolic process (GO:0080090) 1.082SMC1A, KMT2A
regulation of metabolic process (GO:0019222) 1.022SMC1A, KMT2A
response to radiation (GO:0009314) 3.692SMC1A, KMT2A
regulation of cellular metabolic process (GO:0031323) 1.072SMC1A, KMT2A
nucleic acid metabolic process (GO:0090304) 1.462SMC1A, KMT2A
cellular nitrogen compound metabolic process (GO:0034641) 1.222SMC1A, KMT2A
nitrogen compound metabolic process (GO:0006807) 1.132SMC1A, KMT2A
cellular component organization (GO:0016043) 1.242SMC1A, KMT2A
regulation of biological process (GO:0050789) 0.452SMC1A, KMT2A
cellular component organization or biogenesis (GO:0071840) 1.222SMC1A, KMT2A
nucleobase-containing compound metabolic process (GO:0006139) 1.352SMC1A, KMT2A
cellular macromolecule metabolic process (GO:0044260) 0.932SMC1A, KMT2A
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462SMC1A, KMT2A
peptidyl-amino acid modification (GO:0018193) 2.982SMC1A, KMT2A
organic substance metabolic process (GO:0071704) 0.632SMC1A, KMT2A
biological regulation (GO:0065007) 0.392SMC1A, KMT2A
organic cyclic compound metabolic process (GO:1901360) 1.262SMC1A, KMT2A
regulation of cellular biosynthetic process (GO:0031326) 1.382SMC1A, KMT2A
negative regulation of biological process (GO:0048519) 1.332SMC1A, KMT2A
developmental process (GO:0032502) 1.362SMC1A, KMT2A
multicellular organismal process (GO:0032501) 1.452SMC1A, KMT2A
cellular protein metabolic process (GO:0044267) 1.632SMC1A, KMT2A
regulation of macromolecule metabolic process (GO:0060255) 1.082SMC1A, KMT2A
cellular aromatic compound metabolic process (GO:0006725) 1.32SMC1A, KMT2A
cellular process (GO:0009987) 0.262SMC1A, KMT2A
regulation of biosynthetic process (GO:0009889) 1.372SMC1A, KMT2A
cellular protein modification process (GO:0006464) 1.792SMC1A, KMT2A
regulation of cellular process (GO:0050794) 0.52SMC1A, KMT2A
single-organism developmental process (GO:0044767) 1.492SMC1A, KMT2A
macromolecule modification (GO:0043412) 1.732SMC1A, KMT2A
protein modification process (GO:0036211) 1.792SMC1A, KMT2A
single-organism cellular process (GO:0044763) 0.652SMC1A, KMT2A
regulation of nitrogen compound metabolic process (GO:0051171) 1.362SMC1A, KMT2A
metabolic process (GO:0008152) 0.582SMC1A, KMT2A
heterocycle metabolic process (GO:0046483) 1.312SMC1A, KMT2A
primary metabolic process (GO:0044238) 0.692SMC1A, KMT2A
single-organism process (GO:0044699) 0.482SMC1A, KMT2A
single-multicellular organism process (GO:0044707) 1.782SMC1A, KMT2A
peptidyl-lysine modification (GO:0018205) 3.982SMC1A, KMT2A
response to stimulus (GO:0050896) 1.222SMC1A, KMT2A
cellular metabolic process (GO:0044237) 0.692SMC1A, KMT2A
macromolecule metabolic process (GO:0043170) 0.832SMC1A, KMT2A
protein metabolic process (GO:0019538) 1.452SMC1A, KMT2A
regulation of macromolecule biosynthetic process (GO:0010556) 1.432SMC1A, KMT2A
DNA metabolic process (GO:0006259) 3.092SMC1A, KMT2A
negative regulation of cellular process (GO:0048523) 1.412SMC1A, KMT2A
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.012SMC1A, KMT2A
protein complex (GO:0043234) 1.512SMC1A, KMT2A
macromolecular complex (GO:0032991) 1.352SMC1A, KMT2A
intracellular membrane-bounded organelle (GO:0043231) 0.62SMC1A, KMT2A
nucleus (GO:0005634) 1.072SMC1A, KMT2A
cell part (GO:0044464) 0.112SMC1A, KMT2A
intracellular organelle part (GO:0044446) 0.812SMC1A, KMT2A
nucleoplasm (GO:0005654) 1.892SMC1A, KMT2A
intracellular organelle (GO:0043229) 0.512SMC1A, KMT2A
nuclear part (GO:0044428) 1.552SMC1A, KMT2A
intracellular part (GO:0044424) 0.282SMC1A, KMT2A
membrane-bounded organelle (GO:0043227) 0.472SMC1A, KMT2A
organelle (GO:0043226) 0.42SMC1A, KMT2A
organelle part (GO:0044422) 0.792SMC1A, KMT2A