Disease table of MUIR-TORRE SYNDROME OMIM ID: 158320

Gene-disease associations table

GeneAssociated with MUIR-TORRE SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
MSH2ClinVar, OMIMHGNC link2p213276300, 158320, PS120435
MLH1OMIMHGNC link3p22.23276300, 158320, PS120435

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
MSH2YES2MBD2, DNMT10
MLH1YES1CEBPZ0
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
MSH2MLH1Yes20ATM, NBN, MSH3, PCNA, MYC, MRE11A, BARD1, PMS1, RFC1, MSH6, BLM, RAD50, PMS2, EXO1, NTRK1, SNW1, BRCA1, ANXA6, MSH2, FANCD2

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
MSH2MLH1Yesbinding31ERCC5, PCNA, RAD9A, FANCD2, TP53, RAD50, XPC, XPA, POLD1, POLE, RAD51, RPA1, PMS1, RAD23B, BRCA1, ERCC1, DMC1, PMS2, WDTC1, EXO1, MSH6, RECQL, MSH3, FEN1, WRN, XRCC6, ERCC4, BLM, XRCC5, MYC, MLH3

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

Interactions from CORUM
Gene1Gene2Direct InteractionComplexesNumber of shared interactorsShared genes in interaction
MSH2MLH1YesMSH2-MSH6-PMS2-MLH1 complex;MSH2-MSH6-PMS1-MLH1 complex;BASC (Ab 80) complex (BRCA1-associated genome surveillance complex);MSH2-MLH1-PMS2 DNA-repair initiation complex;MSH2-MLH1-PMS2-PCNA DNA-repair initiation complex;BASC complex (BRCA1-associated genome surveillance complex);PCNA-MutS-alpha-MutL-alpha-DNA complex13ATM, NBN, PMS2, RFC2, PCNA, MRE11A, PMS1, RFC1, BLM, RAD50, RFC4, BRCA1, MSH6

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

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Colorectal cancerhsa052106.522MSH2, MLH1
Mismatch repairhsa034308.072MSH2, MLH1
Pathways in cancerhsa052003.982MSH2, MLH1

NET-GE enrichment

Term New enriched termICP valueGenes
Cancers: Specific typesNEW4.10.037MSH2, MLH1
Colorectal cancer (hsa05210) -6.520.004MSH2, MLH1
Pathways in cancer (hsa05200) -3.980.044MSH2, MLH1
Mismatch repair (hsa03430) -8.070.0MSH2, MLH1
Replication and repairNEW5.410.006MSH2, MLH1
Fanconi anemia pathway (hsa03460) NEW7.010.001MSH2, MLH1
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)R-HSA-53585659.182MSH2, MLH1
DNA RepairR-HSA-738945.82MSH2, MLH1
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)R-HSA-53586069.182MSH2, MLH1
Mismatch RepairR-HSA-53585089.082MSH2, MLH1

NET-GE enrichment

Term New enriched termICP valueGenes
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) (R-HSA-5358565) -9.180.0MSH2, MLH1
DNA Repair (R-HSA-73894) -5.80.003MSH2, MLH1
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) (R-HSA-5358606) -9.180.0MSH2, MLH1
Mismatch Repair (R-HSA-5358508) -9.080.0MSH2, MLH1
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
ATPase activity (GO:0016887) 3.652MSH2, MLH1
purine ribonucleoside triphosphate binding (GO:0035639) 2.222MSH2, MLH1
mismatched DNA binding (GO:0030983) 7.252MSH2, MLH1
macromolecular complex binding (GO:0044877) 2.612MSH2, MLH1
binding (GO:0005488) 0.182MSH2, MLH1
nucleic acid binding (GO:0003676) 1.442MSH2, MLH1
DNA binding (GO:0003677) 1.922MSH2, MLH1
heterocyclic compound binding (GO:1901363) 1.062MSH2, MLH1
nucleoside phosphate binding (GO:1901265) 1.962MSH2, MLH1
nucleoside binding (GO:0001882) 2.212MSH2, MLH1
nucleotide binding (GO:0000166) 1.962MSH2, MLH1
purine nucleoside binding (GO:0001883) 2.222MSH2, MLH1
ribonucleoside binding (GO:0032549) 2.222MSH2, MLH1
protein complex binding (GO:0032403) 3.092MSH2, MLH1
purine nucleotide binding (GO:0017076) 2.192MSH2, MLH1
double-stranded DNA binding (GO:0003690) 3.092MSH2, MLH1
single-stranded DNA binding (GO:0003697) 5.172MSH2, MLH1
ATP binding (GO:0005524) 2.432MSH2, MLH1
mismatch repair complex binding (GO:0032404) 7.662MSH2, MLH1
hydrolase activity (GO:0016787) 1.92MSH2, MLH1
nucleoside-triphosphatase activity (GO:0017111) 3.092MSH2, MLH1
small molecule binding (GO:0036094) 1.892MSH2, MLH1
guanine/thymine mispair binding (GO:0032137) 8.352MSH2, MLH1
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818) 3.032MSH2, MLH1
catalytic activity (GO:0003824) 1.052MSH2, MLH1
carbohydrate derivative binding (GO:0097367) 2.032MSH2, MLH1
organic cyclic compound binding (GO:0097159) 1.052MSH2, MLH1
adenyl nucleotide binding (GO:0030554) 2.42MSH2, MLH1
hydrolase activity, acting on acid anhydrides (GO:0016817) 3.032MSH2, MLH1
pyrophosphatase activity (GO:0016462) 3.042MSH2, MLH1
adenyl ribonucleotide binding (GO:0032559) 2.412MSH2, MLH1
protein binding (GO:0005515) 0.462MSH2, MLH1
purine ribonucleotide binding (GO:0032555) 2.22MSH2, MLH1
purine ribonucleoside binding (GO:0032550) 2.222MSH2, MLH1
ribonucleotide binding (GO:0032553) 2.192MSH2, MLH1

NET-GE enrichment

Term New enriched termICP valueGenes
structure-specific DNA binding (GO:0043566) NEW4.980.008MSH2, MLH1
deoxyribonuclease activity (GO:0004536) NEW5.480.004MSH2, MLH1
mismatched DNA binding (GO:0030983) -7.250.0MSH2, MLH1
ATPase activity (GO:0016887) -3.650.024MSH2, MLH1
guanine/thymine mispair binding (GO:0032137) -8.350.0MSH2, MLH1
double-stranded DNA binding (GO:0003690) -3.090.002MSH2, MLH1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
regulation of primary metabolic process (GO:0080090) 1.082MSH2, MLH1
regulation of metabolic process (GO:0019222) 1.022MSH2, MLH1
cell development (GO:0048468) 3.282MSH2, MLH1
signal transduction (GO:0007165) 1.282MSH2, MLH1
cellular component organization or biogenesis (GO:0071840) 1.222MSH2, MLH1
single-organism metabolic process (GO:0044710) 1.632MSH2, MLH1
negative regulation of macromolecule metabolic process (GO:0010605) 2.012MSH2, MLH1
double-strand break repair (GO:0006302) 4.732MSH2, MLH1
cellular developmental process (GO:0048869) 1.822MSH2, MLH1
cell activation involved in immune response (GO:0002263) 4.862MSH2, MLH1
negative regulation of biological process (GO:0048519) 1.332MSH2, MLH1
negative regulation of DNA metabolic process (GO:0051053) 4.982MSH2, MLH1
regulation of DNA metabolic process (GO:0051052) 3.872MSH2, MLH1
DNA repair (GO:0006281) 3.592MSH2, MLH1
regulation of macromolecule metabolic process (GO:0060255) 1.082MSH2, MLH1
germ cell development (GO:0007281) 4.752MSH2, MLH1
developmental process involved in reproduction (GO:0003006) 3.362MSH2, MLH1
lymphocyte activation (GO:0046649) 3.962MSH2, MLH1
heterocycle metabolic process (GO:0046483) 1.312MSH2, MLH1
single organism reproductive process (GO:0044702) 2.732MSH2, MLH1
regulation of DNA recombination (GO:0000018) 5.652MSH2, MLH1
immune system process (GO:0002376) 2.292MSH2, MLH1
cellular response to stress (GO:0033554) 2.512MSH2, MLH1
somatic diversification of immunoglobulins (GO:0016445) 6.262MSH2, MLH1
somatic cell DNA recombination (GO:0016444) 6.232MSH2, MLH1
somatic recombination of immunoglobulin gene segments (GO:0016447) 6.682MSH2, MLH1
somatic hypermutation of immunoglobulin genes (GO:0016446) 6.92MSH2, MLH1
negative regulation of metabolic process (GO:0009892) 1.932MSH2, MLH1
isotype switching (GO:0045190) 6.962MSH2, MLH1
mismatch repair (GO:0006298) 6.232MSH2, MLH1
leukocyte activation (GO:0045321) 3.762MSH2, MLH1
nitrogen compound metabolic process (GO:0006807) 1.132MSH2, MLH1
intracellular signal transduction (GO:0035556) 2.392MSH2, MLH1
regulation of biological process (GO:0050789) 0.452MSH2, MLH1
cellular macromolecule metabolic process (GO:0044260) 0.932MSH2, MLH1
lymphocyte activation involved in immune response (GO:0002285) 5.222MSH2, MLH1
cellular component organization (GO:0016043) 1.242MSH2, MLH1
somatic diversification of immunoglobulins involved in immune response (GO:0002208) 6.962MSH2, MLH1
leukocyte activation involved in immune response (GO:0002366) 4.882MSH2, MLH1
biological regulation (GO:0065007) 0.392MSH2, MLH1
organic cyclic compound metabolic process (GO:1901360) 1.262MSH2, MLH1
somatic diversification of immune receptors (GO:0002200) 5.922MSH2, MLH1
negative regulation of DNA recombination (GO:0045910) 6.962MSH2, MLH1
somatic recombination of immunoglobulin genes involved in immune response (GO:0002204) 6.962MSH2, MLH1
cellular response to stimulus (GO:0051716) 1.972MSH2, MLH1
regulation of cellular process (GO:0050794) 0.52MSH2, MLH1
cell activation (GO:0001775) 3.472MSH2, MLH1
metabolic process (GO:0008152) 0.582MSH2, MLH1
response to stimulus (GO:0050896) 1.222MSH2, MLH1
response to stress (GO:0006950) 1.82MSH2, MLH1
cellular nitrogen compound metabolic process (GO:0034641) 1.222MSH2, MLH1
single-organism process (GO:0044699) 0.482MSH2, MLH1
nucleobase-containing compound metabolic process (GO:0006139) 1.352MSH2, MLH1
developmental process (GO:0032502) 1.362MSH2, MLH1
organelle organization (GO:0006996) 2.022MSH2, MLH1
primary metabolic process (GO:0044238) 0.692MSH2, MLH1
apoptotic signaling pathway (GO:0097190) 4.122MSH2, MLH1
cellular process (GO:0009987) 0.262MSH2, MLH1
cellular aromatic compound metabolic process (GO:0006725) 1.32MSH2, MLH1
cellular response to DNA damage stimulus (GO:0006974) 3.172MSH2, MLH1
reciprocal meiotic recombination (GO:0007131) 6.332MSH2, MLH1
meiotic cell cycle process (GO:1903046) 4.712MSH2, MLH1
chromosome organization (GO:0051276) 3.792MSH2, MLH1
intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630) 5.442MSH2, MLH1
macromolecule metabolic process (GO:0043170) 0.832MSH2, MLH1
negative regulation of cellular metabolic process (GO:0031324) 2.012MSH2, MLH1
regulation of cellular metabolic process (GO:0031323) 1.072MSH2, MLH1
B cell activation (GO:0042113) 4.842MSH2, MLH1
intrinsic apoptotic signaling pathway (GO:0097193) 4.692MSH2, MLH1
nucleic acid metabolic process (GO:0090304) 1.462MSH2, MLH1
cell cycle process (GO:0022402) 2.752MSH2, MLH1
organic substance metabolic process (GO:0071704) 0.632MSH2, MLH1
negative regulation of nucleobase-containing compound metabolic process (GO:0045934) 2.552MSH2, MLH1
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432MSH2, MLH1
single-organism developmental process (GO:0044767) 1.492MSH2, MLH1
reproductive process (GO:0022414) 2.552MSH2, MLH1
single-organism cellular process (GO:0044763) 0.652MSH2, MLH1
regulation of nitrogen compound metabolic process (GO:0051171) 1.362MSH2, MLH1
negative regulation of nitrogen compound metabolic process (GO:0051172) 2.472MSH2, MLH1
cellular process involved in reproduction in multicellular organism (GO:0022412) 4.32MSH2, MLH1
DNA recombination (GO:0006310) 4.392MSH2, MLH1
somatic diversification of immune receptors via germline recombination within a single locus (GO:0002562) 6.232MSH2, MLH1
somatic diversification of immune receptors via somatic mutation (GO:0002566) 6.842MSH2, MLH1
anatomical structure development (GO:0048856) 1.582MSH2, MLH1
cellular metabolic process (GO:0044237) 0.692MSH2, MLH1
negative regulation of cellular process (GO:0048523) 1.412MSH2, MLH1
immune effector process (GO:0002252) 3.582MSH2, MLH1
DNA metabolic process (GO:0006259) 3.092MSH2, MLH1
reciprocal DNA recombination (GO:0035825) 6.332MSH2, MLH1
B cell activation involved in immune response (GO:0002312) 6.172MSH2, MLH1

NET-GE enrichment

Term New enriched termICP valueGenes
isotype switching (GO:0045190) -6.960.001MSH2, MLH1
mismatch repair (GO:0006298) -6.230.001MSH2, MLH1
intrinsic apoptotic signaling pathway (GO:0097193) -4.690.024MSH2, MLH1
female gamete generation (GO:0007292) NEW5.990.013MSH2, MLH1
double-strand break repair via homologous recombination (GO:0000724) NEW5.380.025MSH2, MLH1
meiotic chromosome separation (GO:0051307) NEW9.040.001MSH2, MLH1
chromosome separation (GO:0051304) NEW7.430.002MSH2, MLH1
double-strand break repair (GO:0006302) -4.730.011MSH2, MLH1
recombinational repair (GO:0000725) NEW5.370.025MSH2, MLH1
lymphocyte activation involved in immune response (GO:0002285) -5.220.005MSH2, MLH1
cell activation involved in immune response (GO:0002263) -4.860.01MSH2, MLH1
synapsis (GO:0007129) NEW6.780.001MSH2, MLH1
somatic diversification of immunoglobulins involved in immune response (GO:0002208) -6.960.0MSH2, MLH1
leukocyte activation involved in immune response (GO:0002366) -4.880.01MSH2, MLH1
somatic diversification of immune receptors (GO:0002200) -5.920.001MSH2, MLH1
negative regulation of DNA recombination (GO:0045910) -6.960.0MSH2, MLH1
somatic recombination of immunoglobulin genes involved in immune response (GO:0002204) -6.960.001MSH2, MLH1
negative regulation of DNA metabolic process (GO:0051053) -4.980.005MSH2, MLH1
B cell activation (GO:0042113) -4.840.014MSH2, MLH1
germ cell development (GO:0007281) -4.750.012MSH2, MLH1
cellular process involved in reproduction in multicellular organism (GO:0022412) -4.30.043MSH2, MLH1
meiotic cell cycle process (GO:1903046) -4.710.008MSH2, MLH1
chromosome organization involved in meiosis (GO:0070192) NEW5.90.008MSH2, MLH1
DNA recombination (GO:0006310) -4.390.034MSH2, MLH1
somatic diversification of immune receptors via germline recombination within a single locus (GO:0002562) -6.230.001MSH2, MLH1
intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630) -5.440.005MSH2, MLH1
resolution of meiotic recombination intermediates (GO:0000712) NEW7.430.001MSH2, MLH1
chromosome organization (GO:0051276) -3.790.037MSH2, MLH1
regulation of DNA recombination (GO:0000018) -5.650.025MSH2, MLH1
somatic recombination of immunoglobulin gene segments (GO:0016447) -6.680.0MSH2, MLH1
somatic diversification of immune receptors via somatic mutation (GO:0002566) -6.840.0MSH2, MLH1
somatic diversification of immunoglobulins (GO:0016445) -6.260.001MSH2, MLH1
somatic cell DNA recombination (GO:0016444) -6.230.001MSH2, MLH1
B cell activation involved in immune response (GO:0002312) -6.170.007MSH2, MLH1
somatic hypermutation of immunoglobulin genes (GO:0016446) -6.90.0MSH2, MLH1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
protein complex (GO:0043234) 1.512MSH2, MLH1
intracellular organelle part (GO:0044446) 0.812MSH2, MLH1
macromolecular complex (GO:0032991) 1.352MSH2, MLH1
intracellular membrane-bounded organelle (GO:0043231) 0.62MSH2, MLH1
DNA repair complex (GO:1990391) 6.142MSH2, MLH1
nucleus (GO:0005634) 1.072MSH2, MLH1
membrane (GO:0016020) 0.682MSH2, MLH1
cell part (GO:0044464) 0.112MSH2, MLH1
nucleoplasm (GO:0005654) 1.892MSH2, MLH1
nuclear chromosome part (GO:0044454) 3.672MSH2, MLH1
intracellular organelle (GO:0043229) 0.512MSH2, MLH1
nuclear part (GO:0044428) 1.552MSH2, MLH1
intracellular part (GO:0044424) 0.282MSH2, MLH1
mismatch repair complex (GO:0032300) 7.032MSH2, MLH1
chromosomal part (GO:0044427) 3.182MSH2, MLH1
membrane-bounded organelle (GO:0043227) 0.472MSH2, MLH1
organelle (GO:0043226) 0.42MSH2, MLH1
organelle part (GO:0044422) 0.792MSH2, MLH1

NET-GE enrichment

Term New enriched termICP valueGenes
DNA repair complex (GO:1990391) -6.140.0MSH2, MLH1
mismatch repair complex (GO:0032300) -7.030.0MSH2, MLH1