Disease table of SINGLETON-MERTEN SYNDROME OMIM ID: PS182250

Gene-disease associations table

GeneAssociated with SINGLETON-MERTEN SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
DDX58ClinVar, OMIM, HUMSAVARHGNC link9p21.11PS182250
IFIH1ClinVar, OMIM, HUMSAVARHGNC link2q24.22PS182250, PS225750

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
DDX58YES1IRF10
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
DDX58IFIH1No5NLRC5, TSPAN6, USP21, USP3, MAVS

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
DDX58IFIH1Yesreaction, binding12ANKRD17, WRN, MUS81, DDX60, ERCC4, NLRC5, BLM, MAVS, UBC, RECQL, RNF125, ATG12

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
Gene1Gene2Direct interactionMore information
DDX58IFIH1maybeIFIH1 interacts with DDX60, and maybe also with 50. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Influenza Ahsa051645.212IFIH1, DDX58
Measleshsa051625.62IFIH1, DDX58
Herpes simplex infectionhsa051685.082IFIH1, DDX58
Hepatitis Bhsa051615.522IFIH1, DDX58
RIG-I-like receptor signaling pathwayhsa046226.622IFIH1, DDX58

NET-GE enrichment

Term New enriched termICP valueGenes
Influenza A (hsa05164) -5.210.012IFIH1, DDX58
Measles (hsa05162) -5.60.03IFIH1, DDX58
Herpes simplex infection (hsa05168) -5.080.014IFIH1, DDX58
Hepatitis B (hsa05161) -5.520.026IFIH1, DDX58
RIG-I-like receptor signaling pathway (hsa04622) -6.620.002IFIH1, DDX58
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
TRAF6 mediated NF-kB activationR-HSA-9335428.42IFIH1, DDX58
NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10R-HSA-9335439.42IFIH1, DDX58
TRAF6 mediated IRF7 activationR-HSA-9335417.982IFIH1, DDX58
TRAF3-dependent IRF activation pathwayR-HSA-9182339.182IFIH1, DDX58
Innate Immune SystemR-HSA-1682493.172IFIH1, DDX58
Immune SystemR-HSA-1682562.372IFIH1, DDX58
RIG-I/MDA5 mediated induction of IFN-alpha/beta pathwaysR-HSA-1689286.72IFIH1, DDX58
Negative regulators of RIG-I/MDA5 signalingR-HSA-9364407.982IFIH1, DDX58

NET-GE enrichment

Term New enriched termICP valueGenes
TRAF6 mediated NF-kB activation (R-HSA-933542) -8.40.001IFIH1, DDX58
NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10 (R-HSA-933543) -9.40.0IFIH1, DDX58
TRAF6 mediated IRF7 activation (R-HSA-933541) -7.980.001IFIH1, DDX58
TRAF3-dependent IRF activation pathway (R-HSA-918233) -9.180.0IFIH1, DDX58
RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways (R-HSA-168928) -6.70.01IFIH1, DDX58
Negative regulators of RIG-I/MDA5 signaling (R-HSA-936440) -7.980.001IFIH1, DDX58
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
purine ribonucleoside triphosphate binding (GO:0035639) 2.222IFIH1, DDX58
zinc ion binding (GO:0008270) 2.662IFIH1, DDX58
nucleic acid binding (GO:0003676) 1.442IFIH1, DDX58
DNA binding (GO:0003677) 1.922IFIH1, DDX58
nucleotide binding (GO:0000166) 1.962IFIH1, DDX58
heterocyclic compound binding (GO:1901363) 1.062IFIH1, DDX58
nucleoside phosphate binding (GO:1901265) 1.962IFIH1, DDX58
nucleoside binding (GO:0001882) 2.212IFIH1, DDX58
cation binding (GO:0043169) 1.42IFIH1, DDX58
transition metal ion binding (GO:0046914) 2.482IFIH1, DDX58
pyrophosphatase activity (GO:0016462) 3.042IFIH1, DDX58
ion binding (GO:0043167) 1.362IFIH1, DDX58
purine nucleoside binding (GO:0001883) 2.222IFIH1, DDX58
ribonucleoside binding (GO:0032549) 2.222IFIH1, DDX58
purine nucleotide binding (GO:0017076) 2.192IFIH1, DDX58
metal ion binding (GO:0046872) 1.412IFIH1, DDX58
ATP binding (GO:0005524) 2.432IFIH1, DDX58
hydrolase activity (GO:0016787) 1.92IFIH1, DDX58
nucleoside-triphosphatase activity (GO:0017111) 3.092IFIH1, DDX58
helicase activity (GO:0004386) 4.692IFIH1, DDX58
small molecule binding (GO:0036094) 1.892IFIH1, DDX58
catalytic activity (GO:0003824) 1.052IFIH1, DDX58
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818) 3.032IFIH1, DDX58
adenyl nucleotide binding (GO:0030554) 2.42IFIH1, DDX58
carbohydrate derivative binding (GO:0097367) 2.032IFIH1, DDX58
organic cyclic compound binding (GO:0097159) 1.052IFIH1, DDX58
hydrolase activity, acting on acid anhydrides (GO:0016817) 3.032IFIH1, DDX58
single-stranded RNA binding (GO:0003727) 5.52IFIH1, DDX58
double-stranded RNA binding (GO:0003725) 5.582IFIH1, DDX58
adenyl ribonucleotide binding (GO:0032559) 2.412IFIH1, DDX58
RNA binding (GO:0003723) 2.362IFIH1, DDX58
protein binding (GO:0005515) 0.462IFIH1, DDX58
purine ribonucleotide binding (GO:0032555) 2.22IFIH1, DDX58
purine ribonucleoside binding (GO:0032550) 2.222IFIH1, DDX58
ribonucleotide binding (GO:0032553) 2.192IFIH1, DDX58
binding (GO:0005488) 0.182IFIH1, DDX58

NET-GE enrichment

Term New enriched termICP valueGenes
ribonucleoprotein complex binding (GO:0043021) NEW5.150.003IFIH1, DDX58
single-stranded RNA binding (GO:0003727) -5.50.0IFIH1, DDX58
double-stranded DNA binding (GO:0003690) NEW3.090.013IFIH1, DDX58
double-stranded RNA binding (GO:0003725) -5.580.002IFIH1, DDX58
helicase activity (GO:0004386) -4.690.014IFIH1, DDX58
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
detection of virus (GO:0009597) 8.122IFIH1, DDX58
regulation of interferon-alpha production (GO:0032647) 6.732IFIH1, DDX58
positive regulation of response to stimulus (GO:0048584) 2.182IFIH1, DDX58
regulation of response to stimulus (GO:0048583) 1.542IFIH1, DDX58
regulation of interferon-beta production (GO:0032648) 5.922IFIH1, DDX58
positive regulation of immune response (GO:0050778) 3.42IFIH1, DDX58
positive regulation of defense response (GO:0031349) 3.832IFIH1, DDX58
signal transduction (GO:0007165) 1.282IFIH1, DDX58
positive regulation of innate immune response (GO:0045089) 4.222IFIH1, DDX58
intracellular signal transduction (GO:0035556) 2.392IFIH1, DDX58
regulation of biological process (GO:0050789) 0.452IFIH1, DDX58
regulation of defense response (GO:0031347) 3.112IFIH1, DDX58
intracellular receptor signaling pathway (GO:0030522) 4.62IFIH1, DDX58
immune response-regulating signaling pathway (GO:0002764) 3.722IFIH1, DDX58
response to external biotic stimulus (GO:0043207) 3.132IFIH1, DDX58
regulation of cytokine production (GO:0001817) 3.42IFIH1, DDX58
cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528) 7.942IFIH1, DDX58
positive regulation of multicellular organismal process (GO:0051240) 2.492IFIH1, DDX58
negative regulation of multicellular organismal process (GO:0051241) 2.842IFIH1, DDX58
interspecies interaction between organisms (GO:0044419) 3.082IFIH1, DDX58
immune effector process (GO:0002252) 3.582IFIH1, DDX58
positive regulation of immune system process (GO:0002684) 2.962IFIH1, DDX58
regulation of type I interferon production (GO:0032479) 5.032IFIH1, DDX58
biological regulation (GO:0065007) 0.392IFIH1, DDX58
positive regulation of interferon-beta production (GO:0032728) 6.292IFIH1, DDX58
innate immune response (GO:0045087) 3.552IFIH1, DDX58
positive regulation of biological process (GO:0048518) 1.22IFIH1, DDX58
regulation of immune system process (GO:0002682) 2.52IFIH1, DDX58
pattern recognition receptor signaling pathway (GO:0002221) 5.022IFIH1, DDX58
cellular response to virus (GO:0098586) 6.592IFIH1, DDX58
regulation of innate immune response (GO:0045088) 3.862IFIH1, DDX58
immune response-activating signal transduction (GO:0002757) 3.82IFIH1, DDX58
regulation of type III interferon production (GO:0034344) 8.632IFIH1, DDX58
cellular process (GO:0009987) 0.262IFIH1, DDX58
negative regulation of biological process (GO:0048519) 1.332IFIH1, DDX58
regulation of cellular process (GO:0050794) 0.52IFIH1, DDX58
defense response (GO:0006952) 2.782IFIH1, DDX58
response to stress (GO:0006950) 1.82IFIH1, DDX58
negative regulation of type I interferon production (GO:0032480) 6.072IFIH1, DDX58
defense response to other organism (GO:0098542) 3.752IFIH1, DDX58
positive regulation of interferon-alpha production (GO:0032727) 6.92IFIH1, DDX58
regulation of multicellular organismal process (GO:0051239) 1.872IFIH1, DDX58
immune response (GO:0006955) 2.862IFIH1, DDX58
viral process (GO:0016032) 3.152IFIH1, DDX58
response to other organism (GO:0051707) 3.482IFIH1, DDX58
multi-organism process (GO:0051704) 2.652IFIH1, DDX58
regulation of immune response (GO:0050776) 2.982IFIH1, DDX58
response to biotic stimulus (GO:0009607) 3.092IFIH1, DDX58
defense response to virus (GO:0051607) 4.632IFIH1, DDX58
response to external stimulus (GO:0009605) 2.552IFIH1, DDX58
cytoplasmic pattern recognition receptor signaling pathway (GO:0002753) 6.232IFIH1, DDX58
regulation of response to stress (GO:0080134) 2.532IFIH1, DDX58
innate immune response-activating signal transduction (GO:0002758) 4.452IFIH1, DDX58
positive regulation of type I interferon production (GO:0032481) 5.482IFIH1, DDX58
immune system process (GO:0002376) 2.292IFIH1, DDX58
activation of innate immune response (GO:0002218) 4.412IFIH1, DDX58
multi-organism cellular process (GO:0044764) 3.142IFIH1, DDX58
activation of immune response (GO:0002253) 3.672IFIH1, DDX58
response to virus (GO:0009615) 4.212IFIH1, DDX58
symbiosis, encompassing mutualism through parasitism (GO:0044403) 3.152IFIH1, DDX58
response to stimulus (GO:0050896) 1.222IFIH1, DDX58
negative regulation of cytokine production (GO:0001818) 4.42IFIH1, DDX58
positive regulation of cytokine production (GO:0001819) 3.822IFIH1, DDX58

NET-GE enrichment

Term New enriched termICP valueGenes
detection of virus (GO:0009597) -8.120.0IFIH1, DDX58
regulation of interferon-alpha production (GO:0032647) -6.730.0IFIH1, DDX58
regulation of defense response to virus (GO:0050688) NEW4.530.036IFIH1, DDX58
regulation of interferon-beta production (GO:0032648) -5.920.004IFIH1, DDX58
positive regulation of defense response (GO:0031349) -3.830.027IFIH1, DDX58
positive regulation of innate immune response (GO:0045089) -4.220.014IFIH1, DDX58
intracellular receptor signaling pathway (GO:0030522) -4.60.015IFIH1, DDX58
cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528) -7.940.0IFIH1, DDX58
positive regulation of interferon-beta production (GO:0032728) -6.290.0IFIH1, DDX58
response to virus (GO:0009615) -4.210.027IFIH1, DDX58
positive regulation of interferon-alpha production (GO:0032727) -6.90.0IFIH1, DDX58
pattern recognition receptor signaling pathway (GO:0002221) -5.020.008IFIH1, DDX58
cellular response to virus (GO:0098586) -6.590.0IFIH1, DDX58
regulation of innate immune response (GO:0045088) -3.860.027IFIH1, DDX58
regulation of type III interferon production (GO:0034344) -8.630.0IFIH1, DDX58
positive regulation of multi-organism process (GO:0043902) NEW4.680.049IFIH1, DDX58
positive regulation of type I interferon production (GO:0032481) -5.480.002IFIH1, DDX58
negative regulation of type I interferon production (GO:0032480) -6.070.001IFIH1, DDX58
cytoplasmic pattern recognition receptor signaling pathway (GO:0002753) -6.230.002IFIH1, DDX58
innate immune response-activating signal transduction (GO:0002758) -4.450.009IFIH1, DDX58
activation of innate immune response (GO:0002218) -4.410.01IFIH1, DDX58
regulation of type I interferon production (GO:0032479) -5.030.005IFIH1, DDX58
negative regulation of cytokine production (GO:0001818) -4.40.011IFIH1, DDX58
positive regulation of cytokine production (GO:0001819) -3.820.032IFIH1, DDX58
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.012IFIH1, DDX58
cytosol (GO:0005829) 1.682IFIH1, DDX58
cell part (GO:0044464) 0.112IFIH1, DDX58
cytoplasmic part (GO:0044444) 0.822IFIH1, DDX58
intracellular organelle (GO:0043229) 0.512IFIH1, DDX58
intracellular part (GO:0044424) 0.282IFIH1, DDX58
organelle (GO:0043226) 0.42IFIH1, DDX58