Disease table of SCHWANNOMATOSIS OMIM ID: PS162091

Gene-disease associations table

GeneAssociated with SCHWANNOMATOSIS inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
SMARCB1OMIMHGNC link22q11.234PS156200, PS609322, PS135900, PS162091
LZTR1ClinVar, OMIM, HUMSAVARHGNC link22q11.212PS163950, PS162091
NF2OMIMHGNC link22q12.23607174, 101000, PS162091

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
22q112SMARCB1, LZTR1
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
22q13SMARCB1, LZTR1, NF2
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
22q3SMARCB1, LZTR1, NF2
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
223SMARCB1, LZTR1, NF2
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
SMARCB1YES2CD44, CDKN2A0
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
SMARCB1YES1PARP10
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
SMARCB1LZTR1No1CUL3
SMARCB1NF2No5EMD, RBBP4, HDAC1, CPSF6, AKT1
LZTR1NF2No1PARP1

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
SMARCB1NF2No-2UBC, CCND1

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 (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
protein complex binding (GO:0032403) 3.092NF2, SMARCB1
macromolecular complex binding (GO:0044877) 2.612NF2, SMARCB1
binding (GO:0005488) 0.182NF2, SMARCB1
protein binding (GO:0005515) 0.462NF2, SMARCB1
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.363NF2, SMARCB1, LZTR1
regulation of primary metabolic process (GO:0080090) 1.083NF2, LZTR1, SMARCB1
regulation of metabolic process (GO:0019222) 1.023NF2, LZTR1, SMARCB1
regulation of macromolecule metabolic process (GO:0060255) 1.083NF2, LZTR1, SMARCB1
regulation of cellular biosynthetic process (GO:0031326) 1.383NF2, LZTR1, SMARCB1
regulation of cellular metabolic process (GO:0031323) 1.073NF2, LZTR1, SMARCB1
regulation of biosynthetic process (GO:0009889) 1.373NF2, LZTR1, SMARCB1
regulation of cellular process (GO:0050794) 0.53NF2, LZTR1, SMARCB1
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.433NF2, SMARCB1, LZTR1
regulation of macromolecule biosynthetic process (GO:0010556) 1.433NF2, SMARCB1, LZTR1
biological regulation (GO:0065007) 0.393NF2, LZTR1, SMARCB1
regulation of nitrogen compound metabolic process (GO:0051171) 1.363NF2, SMARCB1, LZTR1
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.463NF2, SMARCB1, LZTR1
regulation of biological process (GO:0050789) 0.453NF2, LZTR1, SMARCB1
positive regulation of cellular component organization (GO:0051130) 2.682NF2, SMARCB1
anatomical structure development (GO:0048856) 1.582NF2, SMARCB1
negative regulation of metabolic process (GO:0009892) 1.932NF2, SMARCB1
regulation of organelle organization (GO:0033043) 2.722NF2, SMARCB1
cell differentiation (GO:0030154) 2.142NF2, SMARCB1
regulation of response to stimulus (GO:0048583) 1.542NF2, SMARCB1
regulation of cellular component organization (GO:0051128) 2.012NF2, SMARCB1
regulation of signaling (GO:0023051) 1.722NF2, SMARCB1
anatomical structure morphogenesis (GO:0009653) 2.532NF2, LZTR1
cellular component organization or biogenesis (GO:0071840) 1.222NF2, SMARCB1
negative regulation of protein metabolic process (GO:0051248) 2.822NF2, SMARCB1
regulation of cell communication (GO:0010646) 1.732NF2, SMARCB1
negative regulation of macromolecule metabolic process (GO:0010605) 2.012NF2, SMARCB1
regulation of signal transduction (GO:0009966) 1.842NF2, SMARCB1
cellular developmental process (GO:0048869) 1.822NF2, SMARCB1
regulation of protein metabolic process (GO:0051246) 1.932NF2, SMARCB1
cellular component organization (GO:0016043) 1.242NF2, SMARCB1
single-organism process (GO:0044699) 0.482NF2, SMARCB1
regulation of protein modification process (GO:0031399) 2.322NF2, SMARCB1
positive regulation of biological process (GO:0048518) 1.22NF2, SMARCB1
negative regulation of biological process (GO:0048519) 1.332NF2, SMARCB1
regulation of molecular function (GO:0065009) 1.782NF2, SMARCB1
regulation of biological quality (GO:0065008) 1.682NF2, SMARCB1
regulation of gene expression (GO:0010468) 1.372SMARCB1, LZTR1
regulation of cell proliferation (GO:0042127) 2.412NF2, SMARCB1
negative regulation of cell proliferation (GO:0008285) 3.262NF2, SMARCB1
negative regulation of cellular metabolic process (GO:0031324) 2.012NF2, SMARCB1
cellular process (GO:0009987) 0.262NF2, SMARCB1
regulation of nucleic acid-templated transcription (GO:1903506) 1.552LZTR1, SMARCB1
single-organism developmental process (GO:0044767) 1.492NF2, SMARCB1
single-organism cellular process (GO:0044763) 0.652NF2, SMARCB1
regulation of RNA biosynthetic process (GO:2001141) 1.552LZTR1, SMARCB1
negative regulation of cellular protein metabolic process (GO:0032269) 2.882NF2, SMARCB1
regulation of cellular protein metabolic process (GO:0032268) 1.992NF2, SMARCB1
negative regulation of protein modification process (GO:0031400) 3.42NF2, SMARCB1
regulation of RNA metabolic process (GO:0051252) 1.522SMARCB1, LZTR1
positive regulation of organelle organization (GO:0010638) 3.382NF2, SMARCB1
regulation of transcription, DNA-templated (GO:0006355) 1.562LZTR1, SMARCB1
negative regulation of cellular process (GO:0048523) 1.412NF2, SMARCB1
positive regulation of cellular process (GO:0048522) 1.32NF2, SMARCB1
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.63NF2, SMARCB1, LZTR1
cell part (GO:0044464) 0.113NF2, LZTR1, SMARCB1
intracellular organelle (GO:0043229) 0.513NF2, LZTR1, SMARCB1
intracellular part (GO:0044424) 0.283NF2, SMARCB1, LZTR1
membrane-bounded organelle (GO:0043227) 0.473NF2, LZTR1, SMARCB1
organelle (GO:0043226) 0.43NF2, LZTR1, SMARCB1
protein complex (GO:0043234) 1.512NF2, SMARCB1
macromolecular complex (GO:0032991) 1.352NF2, SMARCB1
intracellular non-membrane-bounded organelle (GO:0043232) 1.762NF2, SMARCB1
nucleolus (GO:0005730) 3.062NF2, SMARCB1
nucleus (GO:0005634) 1.072NF2, SMARCB1
intracellular organelle part (GO:0044446) 0.812NF2, SMARCB1
neuron part (GO:0097458) 2.642NF2, SMARCB1
cytoplasmic part (GO:0044444) 0.822NF2, LZTR1
non-membrane-bounded organelle (GO:0043228) 1.762NF2, SMARCB1
nuclear part (GO:0044428) 1.552NF2, SMARCB1
organelle part (GO:0044422) 0.792NF2, SMARCB1