Disease table of ACNE INVERSA OMIM ID: PS142690

Gene-disease associations table

GeneAssociated with ACNE INVERSA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PSENENOMIMHGNC link19q13.121PS142690
PSEN1OMIMHGNC link14q24.27607822, 172700, 600274, 104300, PS142690, 606889, PS115200
NCSTNClinVar, OMIM, HUMSAVARHGNC link1q23.21PS142690

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
PSEN1YES3SP1, CREB1, ELK10
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
PSENENPSEN1Yes7APH1B, GSAP, NCSTN, PSEN1, APH1A, PSEN2, ERLIN2
PSENENNCSTNYes6APH1B, GSAP, PSEN1, APH1A, PSEN2, ERLIN2
PSEN1NCSTNYes8APH1B, PSENEN, GSAP, PSEN1, APH1A, PSEN2, ERLIN2, APP

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
PSENENPSEN1Yesactivation, binding16APH1B, SDC3, ZNF274, NOTCH4, DNER, NCSTN, NOTCH1, TRAF6, PSEN2, DLL1, TP53, CTNNB1, UBC, SORT1, NOTCH3, FBXW11
PSENENNCSTNYesbinding21APH1B, DLL4, SDC3, CTNNB1, ZNF274, NOTCH1, DTX1, NOTCH4, DNER, PSEN1, NOTCH3, SORT1, UBC, DLL1, TRAF6, ITGB3BP, PSEN2, CNTN6, CNTN1, NGFR, FBXW11
PSEN1NCSTNYesactivation, binding18APH1B, NOTCH1, PSENEN, ZNF274, NOTCH4, SDC3, DLL1, TRAF6, UBC, APP, BACE1, CDH1, CTNNB1, PSEN2, NOTCH3, DNER, SORT1, FBXW11

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
PSENENPSEN1YesGamma-secretase-Delta1 complex;Gamma-secretase complex (APH1A, PSEN1, PSENEN, NCSTN variant);Gamma-secretase complex (APH1B, PSEN1, PSENEN, NCSTN);Gamma-secretase complex (APH1A, PSEN1, PSENEN, NCSTN);CD147-gamma-secretase complex (APH-1a, PS-1, PEN-2, NCT variant)5APH1B, NCSTN, DLL1, BSG, APH1A
PSENENNCSTNYesGamma-secretase complex (APH1A, PSEN2, PSENEN, NCSTN);Gamma-secretase complex (APH1A, PSEN1, PSENEN, NCSTN variant);CD147-gamma-secretase complex (APH-1a, PS-1, PEN-2, NCT variant);Gamma-secretase complex (APH1A, PSEN1, PSENEN, NCSTN);Gamma-secretase complex (APH1B, PSEN1, PSENEN, NCSTN);Gamma-secretase-Delta1 complex;Gamma-secretase complex (APH1B, PSEN2, PSENEN, NCSTN)6APH1B, PSEN1, DLL1, APH1A, PSEN2, BSG
PSEN1NCSTNYesGamma-secretase complex (APH1A, PSEN1, PSENEN, NCSTN variant);APH1A-PSEN1-NCSTN complex;CD147-gamma-secretase complex (APH-1a, PS-1, PEN-2, NCT variant);Gamma-secretase complex (APH1A, PSEN1, PSENEN, NCSTN);Gamma-secretase complex (APH1B, PSEN1, PSENEN, NCSTN);Gamma-secretase-Delta1 complex5APH1B, DLL1, BSG, APH1A, PSENEN

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

Interactions from CENSUS
Interactions from PDB
Gene1Gene2InteractionNumber of common interactorsCommon genes in interaction
PSENENPSEN1Yes3NCSTN, PSEN1, PSENEN
PSENENNCSTNYes3NCSTN, PSEN1, PSENEN
PSEN1NCSTNYes3NCSTN, PSEN1, PSENEN

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

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
Notch signaling pathwayhsa043307.123NCSTN, PSEN1, PSENEN
Alzheimer's diseasehsa050105.343NCSTN, PSEN1, PSENEN

NET-GE enrichment

Term New enriched termICP valueGenes
Neurodegenerative diseasesNEW4.270.05NCSTN, PSEN1, PSENEN
Notch signaling pathway (hsa04330) -7.120.0NCSTN, PSEN1, PSENEN
Alzheimer's disease (hsa05010) -5.340.0NCSTN, PSEN1, PSENEN
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Signaling by NOTCHR-HSA-1571186.22NCSTN, PSENEN
Extracellular matrix organizationR-HSA-14742444.912NCSTN, PSEN1
p75 NTR receptor-mediated signallingR-HSA-1937046.592NCSTN, PSENEN
Signaling by ERBB4R-HSA-12363944.72NCSTN, PSENEN
DiseaseR-HSA-16436853.332NCSTN, PSENEN
Activated NOTCH1 Transmits Signal to the NucleusR-HSA-21229488.082NCSTN, PSENEN
Signalling by NGFR-HSA-1665204.232NCSTN, PSENEN
Signaling by NOTCH4R-HSA-19801509.522NCSTN, PSENEN
Degradation of the extracellular matrixR-HSA-14742286.112NCSTN, PSEN1
Developmental BiologyR-HSA-12667383.482NCSTN, PSENEN
Constitutive Signaling by NOTCH1 HD+PEST Domain MutantsR-HSA-28948627.152NCSTN, PSENEN
Diseases of signal transductionR-HSA-56632024.892NCSTN, PSENEN
NRIF signals cell death from the nucleusR-HSA-2050439.082NCSTN, PSENEN
EPH-Ephrin signalingR-HSA-26823346.432NCSTN, PSENEN
Nuclear signaling by ERBB4R-HSA-12519857.72NCSTN, PSENEN
Regulated proteolysis of p75NTRR-HSA-1936929.662NCSTN, PSENEN
Signaling by NOTCH1R-HSA-19801436.812NCSTN, PSENEN
Signaling by NOTCH2R-HSA-19801457.982NCSTN, PSENEN
EPH-ephrin mediated repulsion of cellsR-HSA-39286657.342NCSTN, PSENEN
Signaling by NOTCH1 in CancerR-HSA-26446037.152NCSTN, PSENEN
Signaling by NOTCH1 PEST Domain Mutants in CancerR-HSA-26446027.152NCSTN, PSENEN
Constitutive Signaling by NOTCH1 PEST Domain MutantsR-HSA-26446067.152NCSTN, PSENEN
Signaling by NOTCH3R-HSA-19801489.522NCSTN, PSENEN
Signaling by NOTCH1 HD+PEST Domain Mutants in CancerR-HSA-28948587.152NCSTN, PSENEN
Cell death signalling via NRAGE, NRIF and NADER-HSA-2049987.052NCSTN, PSENEN
Axon guidanceR-HSA-4224753.932NCSTN, PSENEN
Signal TransductionR-HSA-1625821.782NCSTN, PSENEN
NOTCH2 Activation and Transmission of Signal to the NucleusR-HSA-29790968.592NCSTN, PSENEN

NET-GE enrichment

Term New enriched termICP valueGenes
Signaling by NOTCH (R-HSA-157118) -6.20.001NCSTN, PSEN1, PSENEN
p75 NTR receptor-mediated signalling (R-HSA-193704) -6.590.028NCSTN, PSENEN
Signaling by ERBB4 (R-HSA-1236394) -4.70.016NCSTN, PSEN1, PSENEN
Activated NOTCH1 Transmits Signal to the Nucleus (R-HSA-2122948) -8.080.001NCSTN, PSENEN
Signaling by NOTCH4 (R-HSA-1980150) -9.520.0NCSTN, PSENEN
Degradation of the extracellular matrix (R-HSA-1474228) -6.110.018NCSTN, PSEN1
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants (R-HSA-2894862) -7.150.004NCSTN, PSEN1, PSENEN
Diseases of signal transduction (R-HSA-5663202) -4.890.014NCSTN, PSEN1, PSENEN
NRIF signals cell death from the nucleus (R-HSA-205043) -9.080.0NCSTN, PSENEN
EPH-Ephrin signaling (R-HSA-2682334) -6.430.036NCSTN, PSENEN
Nuclear signaling by ERBB4 (R-HSA-1251985) -7.70.002NCSTN, PSENEN
Regulated proteolysis of p75NTR (R-HSA-193692) -9.660.0NCSTN, PSENEN
Signaling by NOTCH1 (R-HSA-1980143) -6.810.007NCSTN, PSEN1, PSENEN
Signaling by NOTCH2 (R-HSA-1980145) -7.980.0NCSTN, PSEN1, PSENEN
EPH-ephrin mediated repulsion of cells (R-HSA-3928665) -7.340.01NCSTN, PSENEN
Signaling by NOTCH1 in Cancer (R-HSA-2644603) -7.150.0NCSTN, PSEN1, PSENEN
Signaling by NOTCH1 PEST Domain Mutants in Cancer (R-HSA-2644602) -7.150.004NCSTN, PSEN1, PSENEN
Constitutive Signaling by NOTCH1 PEST Domain Mutants (R-HSA-2644606) -7.150.004NCSTN, PSEN1, PSENEN
Signaling by NOTCH3 (R-HSA-1980148) -9.520.0NCSTN, PSENEN
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer (R-HSA-2894858) -7.150.0NCSTN, PSEN1, PSENEN
Cell death signalling via NRAGE, NRIF and NADE (R-HSA-204998) -7.050.017NCSTN, PSENEN
NOTCH2 Activation and Transmission of Signal to the Nucleus (R-HSA-2979096) -8.590.001NCSTN, PSENEN
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.183NCSTN, PSEN1, PSENEN
protein binding (GO:0005515) 0.463NCSTN, PSEN1, PSENEN
hydrolase activity (GO:0016787) 1.92NCSTN, PSEN1
peptidase activity (GO:0008233) 3.232NCSTN, PSEN1
endopeptidase activity (GO:0004175) 3.632NCSTN, PSEN1
catalytic activity (GO:0003824) 1.052NCSTN, PSEN1
peptidase activity, acting on L-amino acid peptides (GO:0070011) 3.262NCSTN, PSEN1

NET-GE enrichment

Term New enriched termICP valueGenes
beta-amyloid binding (GO:0001540) NEW6.210.004NCSTN, PSEN1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
membrane protein proteolysis (GO:0033619) 6.173NCSTN, PSEN1, PSENEN
signal transduction (GO:0007165) 1.283NCSTN, PSEN1, PSENEN
cell surface receptor signaling pathway (GO:0007166) 2.093NCSTN, PSEN1, PSENEN
positive regulation of cell death (GO:0010942) 3.323NCSTN, PSEN1, PSENEN
amyloid precursor protein catabolic process (GO:0042987) 7.653NCSTN, PSEN1, PSENEN
regulation of cell death (GO:0010941) 2.433NCSTN, PSEN1, PSENEN
regulation of apoptotic process (GO:0042981) 2.53NCSTN, PSEN1, PSENEN
regulation of biological process (GO:0050789) 0.453NCSTN, PSEN1, PSENEN
positive regulation of catalytic activity (GO:0043085) 2.43NCSTN, PSEN1, PSENEN
amyloid precursor protein metabolic process (GO:0042982) 7.243NCSTN, PSEN1, PSENEN
cellular protein metabolic process (GO:0044267) 1.633NCSTN, PSEN1, PSENEN
Notch signaling pathway (GO:0007219) 4.993NCSTN, PSEN1, PSENEN
cellular macromolecule metabolic process (GO:0044260) 0.933NCSTN, PSEN1, PSENEN
positive regulation of apoptotic process (GO:0043065) 3.383NCSTN, PSEN1, PSENEN
organic substance metabolic process (GO:0071704) 0.633NCSTN, PSEN1, PSENEN
regulation of programmed cell death (GO:0043067) 2.493NCSTN, PSEN1, PSENEN
biological regulation (GO:0065007) 0.393NCSTN, PSEN1, PSENEN
positive regulation of molecular function (GO:0044093) 2.233NCSTN, PSEN1, PSENEN
positive regulation of biological process (GO:0048518) 1.23NCSTN, PSEN1, PSENEN
proteolysis (GO:0006508) 2.733NCSTN, PSEN1, PSENEN
regulation of molecular function (GO:0065009) 1.783NCSTN, PSEN1, PSENEN
positive regulation of programmed cell death (GO:0043068) 3.383NCSTN, PSEN1, PSENEN
cellular process (GO:0009987) 0.263NCSTN, PSEN1, PSENEN
regulation of catalytic activity (GO:0050790) 1.973NCSTN, PSEN1, PSENEN
regulation of cellular process (GO:0050794) 0.53NCSTN, PSEN1, PSENEN
membrane protein ectodomain proteolysis (GO:0006509) 6.643NCSTN, PSEN1, PSENEN
metabolic process (GO:0008152) 0.583NCSTN, PSEN1, PSENEN
protein processing (GO:0016485) 4.623NCSTN, PSEN1, PSENEN
primary metabolic process (GO:0044238) 0.693NCSTN, PSEN1, PSENEN
Notch receptor processing (GO:0007220) 6.93NCSTN, PSEN1, PSENEN
protein maturation (GO:0051604) 4.483NCSTN, PSEN1, PSENEN
protein metabolic process (GO:0019538) 1.453NCSTN, PSEN1, PSENEN
cellular metabolic process (GO:0044237) 0.693NCSTN, PSEN1, PSENEN
macromolecule metabolic process (GO:0043170) 0.833NCSTN, PSEN1, PSENEN
positive regulation of cellular process (GO:0048522) 1.33NCSTN, PSEN1, PSENEN
single organismal cell-cell adhesion (GO:0016337) 3.692NCSTN, PSEN1
T cell activation (GO:0042110) 4.452NCSTN, PSEN1
homeostatic process (GO:0042592) 2.612NCSTN, PSEN1
leukocyte activation (GO:0045321) 3.762NCSTN, PSEN1
cellular nitrogen compound metabolic process (GO:0034641) 1.222NCSTN, PSEN1
nitrogen compound metabolic process (GO:0006807) 1.132NCSTN, PSEN1
enzyme linked receptor protein signaling pathway (GO:0007167) 3.242NCSTN, PSENEN
transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) 3.542NCSTN, PSENEN
beta-amyloid metabolic process (GO:0050435) 7.092NCSTN, PSEN1
single-organism process (GO:0044699) 0.482NCSTN, PSEN1
membrane protein intracellular domain proteolysis (GO:0031293) 6.92NCSTN, PSENEN
regulation of biological quality (GO:0065008) 1.682NCSTN, PSEN1
single organism cell adhesion (GO:0098602) 3.632NCSTN, PSEN1
cell proliferation (GO:0008283) 3.232NCSTN, PSEN1
cell-cell adhesion (GO:0098609) 3.342NCSTN, PSEN1
cell activation (GO:0001775) 3.472NCSTN, PSEN1
lymphocyte activation (GO:0046649) 3.962NCSTN, PSEN1
single-organism cellular process (GO:0044763) 0.652NCSTN, PSEN1
cell adhesion (GO:0007155) 2.822NCSTN, PSEN1
ephrin receptor signaling pathway (GO:0048013) 5.292NCSTN, PSENEN
leukocyte aggregation (GO:0070486) 4.412NCSTN, PSEN1
leukocyte cell-cell adhesion (GO:0007159) 4.262NCSTN, PSEN1
lymphocyte aggregation (GO:0071593) 4.442NCSTN, PSEN1
organonitrogen compound metabolic process (GO:1901564) 2.322NCSTN, PSEN1
cellular amide metabolic process (GO:0043603) 3.232NCSTN, PSEN1
biological adhesion (GO:0022610) 2.812NCSTN, PSEN1
epithelial cell proliferation (GO:0050673) 5.212NCSTN, PSEN1
immune system process (GO:0002376) 2.292NCSTN, PSEN1
T cell aggregation (GO:0070489) 4.452NCSTN, PSEN1
peptide metabolic process (GO:0006518) 3.442NCSTN, PSEN1

NET-GE enrichment

Term New enriched termICP valueGenes
Notch receptor processing (GO:0007220) -6.90.0NCSTN, PSEN1, PSENEN
neurotrophin signaling pathway (GO:0038179) NEW6.550.039NCSTN, PSEN1, PSENEN
protein maturation (GO:0051604) -4.480.001NCSTN, PSEN1, PSENEN
membrane protein intracellular domain proteolysis (GO:0031293) -6.90.001NCSTN, PSENEN
skeletal muscle fiber development (GO:0048741) NEW6.360.012NCSTN, PSEN1
peptide metabolic process (GO:0006518) -3.440.034NCSTN, PSEN1
membrane protein proteolysis (GO:0033619) -6.170.0NCSTN, PSEN1, PSENEN
myotube cell development (GO:0014904) NEW6.230.016NCSTN, PSEN1
epithelial cell proliferation (GO:0050673) -5.210.019NCSTN, PSEN1
positive regulation of apoptotic process (GO:0043065) -3.380.004NCSTN, PSEN1, PSENEN
protein processing (GO:0016485) -4.620.001NCSTN, PSEN1, PSENEN
positive regulation of cell death (GO:0010942) -3.320.005NCSTN, PSEN1, PSENEN
Notch signaling pathway (GO:0007219) -4.990.004NCSTN, PSEN1, PSENEN
neurotrophin TRK receptor signaling pathway (GO:0048011) NEW6.960.035NCSTN, PSEN1, PSENEN
membrane protein ectodomain proteolysis (GO:0006509) -6.640.0NCSTN, PSEN1, PSENEN
amyloid precursor protein catabolic process (GO:0042987) -7.650.0NCSTN, PSEN1, PSENEN
beta-amyloid metabolic process (GO:0050435) -7.090.001NCSTN, PSEN1
extracellular matrix disassembly (GO:0022617) NEW5.380.047NCSTN, PSEN1
positive regulation of programmed cell death (GO:0043068) -3.380.004NCSTN, PSEN1, PSENEN
amyloid precursor protein metabolic process (GO:0042982) -7.240.0NCSTN, PSEN1, PSENEN
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
Golgi apparatus (GO:0005794) 2.73NCSTN, PSEN1, PSENEN
endoplasmic reticulum (GO:0005783) 2.563NCSTN, PSEN1, PSENEN
plasma membrane part (GO:0044459) 1.953NCSTN, PSEN1, PSENEN
intrinsic component of plasma membrane (GO:0031226) 2.533NCSTN, PSEN1, PSENEN
integral component of membrane (GO:0016021) 1.143NCSTN, PSEN1, PSENEN
membrane (GO:0016020) 0.683NCSTN, PSEN1, PSENEN
cell part (GO:0044464) 0.113NCSTN, PSEN1, PSENEN
cytoplasmic part (GO:0044444) 0.823NCSTN, PSEN1, PSENEN
organelle membrane (GO:0031090) 1.973NCSTN, PSEN1, PSENEN
organelle (GO:0043226) 0.43NCSTN, PSEN1, PSENEN
intracellular organelle part (GO:0044446) 0.813NCSTN, PSEN1, PSENEN
intracellular organelle (GO:0043229) 0.513NCSTN, PSEN1, PSENEN
intrinsic component of membrane (GO:0031224) 1.133NCSTN, PSEN1, PSENEN
integral component of plasma membrane (GO:0005887) 2.573NCSTN, PSEN1, PSENEN
plasma membrane (GO:0005886) 1.393NCSTN, PSEN1, PSENEN
intracellular part (GO:0044424) 0.283NCSTN, PSEN1, PSENEN
membrane part (GO:0044425) 0.953NCSTN, PSEN1, PSENEN
membrane-bounded organelle (GO:0043227) 0.473NCSTN, PSEN1, PSENEN
bounding membrane of organelle (GO:0098588) 2.393NCSTN, PSEN1, PSENEN
organelle part (GO:0044422) 0.793NCSTN, PSEN1, PSENEN
intracellular membrane-bounded organelle (GO:0043231) 0.63NCSTN, PSEN1, PSENEN
protein complex (GO:0043234) 1.512PSEN1, PSENEN
membrane protein complex (GO:0098796) 2.842PSEN1, PSENEN
macromolecular complex (GO:0032991) 1.352PSEN1, PSENEN
vesicle (GO:0031982) 1.642NCSTN, PSEN1
gamma-secretase complex (GO:0070765) 8.422PSEN1, PSENEN
endoplasmic reticulum membrane (GO:0005789) 2.952PSEN1, PSENEN
cytoplasmic vesicle (GO:0031410) 2.872NCSTN, PSEN1
whole membrane (GO:0098805) 2.852NCSTN, PSEN1
lytic vacuole membrane (GO:0098852) 4.192NCSTN, PSEN1
Golgi membrane (GO:0000139) 3.282PSEN1, PSENEN
plasma membrane protein complex (GO:0098797) 3.552PSEN1, PSENEN
endoplasmic reticulum part (GO:0044432) 2.732PSEN1, PSENEN
Golgi apparatus part (GO:0044431) 3.02PSEN1, PSENEN
lysosomal membrane (GO:0005765) 4.192NCSTN, PSEN1
vacuolar part (GO:0044437) 3.262NCSTN, PSEN1
intracellular vesicle (GO:0097708) 2.862NCSTN, PSEN1
vacuolar membrane (GO:0005774) 3.452NCSTN, PSEN1
cell junction (GO:0030054) 2.752NCSTN, PSEN1

NET-GE enrichment

Term New enriched termICP valueGenes
Golgi apparatus (GO:0005794) -2.70.007NCSTN, PSEN1, PSENEN
endoplasmic reticulum (GO:0005783) -2.560.007NCSTN, PSEN1, PSENEN
lysosomal membrane (GO:0005765) -4.190.046NCSTN, PSEN1
integral component of plasma membrane (GO:0005887) -2.570.016NCSTN, PSEN1, PSENEN
Golgi cisterna membrane (GO:0032580) NEW5.50.036PSEN1, PSENEN