Disease table of ALZHEIMER DISEASE 4 OMIM ID: 606889

Gene-disease associations table

GeneAssociated with ALZHEIMER DISEASE 4 inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PSEN2ClinVar, OMIM, HUMSAVARHGNC link1q42.133606889, PS115200, 104300
PSEN1ClinVarHGNC link14q24.27607822, 172700, 600274, 104300, PS142690, 606889, PS115200

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
PSEN2YES1EGR10
PSEN1YES3SP1, CREB1, ELK10
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
PSEN2PSEN1Yes23BCL2L1, FBXL12, PDCD4, KCNIP4, RNF32, APP, GCDH, KCNIP3, UBQLN1, RHEB, FLNB, APH1B, ECSIT, APH1A, NCSTN, NOS3, TRAF6, GFAP, PSEN1, ICAM5, PSENEN, PSEN2, CIB1

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
PSEN2PSEN1Yesactivation, binding24BCL2L1, EIF2AK3, KCNIP4, FLNC, DLL1, SRI, NOTCH3, NOTCH4, UBQLN1, KCNIP3, METTL2B, DNER, ATF6, APH1B, RYR2, NCSTN, ICAM5, TRAF6, MTCH1, NOTCH1, FLNB, PSENEN, UBC, ERN1

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
PSEN2PSEN1No-4APH1B, NCSTN, APH1A, PSENEN

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
Notch signaling pathwayhsa043307.122PSEN2, PSEN1
Neurotrophin signaling pathwayhsa047225.782PSEN2, PSEN1
Alzheimer's diseasehsa050105.342PSEN2, PSEN1

NET-GE enrichment

Term New enriched termICP valueGenes
Apoptosis (hsa04210) NEW6.230.017PSEN2, PSEN1
Notch signaling pathway (hsa04330) -7.120.001PSEN2, PSEN1
Neurotrophin signaling pathway (hsa04722) -5.780.043PSEN2, PSEN1
Alzheimer's disease (hsa05010) -5.340.007PSEN2, PSEN1
Neurodegenerative diseasesNEW4.270.03PSEN2, PSEN1
REACTOME pathways annotation: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
Signaling by NOTCH1 (R-HSA-1980143) NEW6.810.007PSEN2, PSEN1
Signaling by NOTCH2 (R-HSA-1980145) NEW7.980.001PSEN2, PSEN1
Signaling by NOTCH1 in Cancer (R-HSA-2644603) NEW7.150.004PSEN2, PSEN1
Signaling by NOTCH1 PEST Domain Mutants in Cancer (R-HSA-2644602) NEW7.150.004PSEN2, PSEN1
Degradation of the extracellular matrix (R-HSA-1474228) NEW6.110.031PSEN2, PSEN1
Signaling by NOTCH (R-HSA-157118) NEW6.20.025PSEN2, PSEN1
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer (R-HSA-2894858) NEW7.150.004PSEN2, PSEN1
Constitutive Signaling by NOTCH1 PEST Domain Mutants (R-HSA-2644606) NEW7.150.004PSEN2, PSEN1
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants (R-HSA-2894862) NEW7.150.004PSEN2, PSEN1
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
hydrolase activity (GO:0016787) 1.92PSEN2, PSEN1
endopeptidase activity (GO:0004175) 3.632PSEN2, PSEN1
aspartic-type peptidase activity (GO:0070001) 6.12PSEN2, PSEN1
catalytic activity (GO:0003824) 1.052PSEN2, PSEN1
peptidase activity, acting on L-amino acid peptides (GO:0070011) 3.262PSEN2, PSEN1
aspartic-type endopeptidase activity (GO:0004190) 6.132PSEN2, PSEN1
binding (GO:0005488) 0.182PSEN2, PSEN1
protein binding (GO:0005515) 0.462PSEN2, PSEN1
peptidase activity (GO:0008233) 3.232PSEN2, PSEN1

NET-GE enrichment

Term New enriched termICP valueGenes
extracellular matrix structural constituent (GO:0005201) NEW5.370.009PSEN2, PSEN1
endopeptidase activity (GO:0004175) -3.630.019PSEN2, PSEN1
ligand-gated ion channel activity (GO:0015276) NEW4.80.036PSEN2, PSEN1
divalent inorganic cation transmembrane transporter activity (GO:0072509) NEW4.620.029PSEN2, PSEN1
aspartic-type peptidase activity (GO:0070001) -6.10.0PSEN2, PSEN1
voltage-gated channel activity (GO:0022832) NEW4.490.046PSEN2, PSEN1
peptidase activity, acting on L-amino acid peptides (GO:0070011) -3.260.045PSEN2, PSEN1
aspartic-type endopeptidase activity (GO:0004190) -6.130.0PSEN2, PSEN1
ligand-gated channel activity (GO:0022834) NEW4.80.036PSEN2, PSEN1
peptidase activity (GO:0008233) -3.230.048PSEN2, PSEN1
voltage-gated ion channel activity (GO:0005244) NEW4.490.046PSEN2, PSEN1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
membrane protein proteolysis (GO:0033619) 6.172PSEN2, PSEN1
cellular nitrogen compound metabolic process (GO:0034641) 1.222PSEN2, PSEN1
nitrogen compound metabolic process (GO:0006807) 1.132PSEN2, PSEN1
signal transduction (GO:0007165) 1.282PSEN2, PSEN1
cell surface receptor signaling pathway (GO:0007166) 2.092PSEN2, PSEN1
positive regulation of cell death (GO:0010942) 3.322PSEN2, PSEN1
intracellular signal transduction (GO:0035556) 2.392PSEN2, PSEN1
beta-amyloid metabolic process (GO:0050435) 7.092PSEN2, PSEN1
regulation of apoptotic process (GO:0042981) 2.52PSEN2, PSEN1
regulation of biological process (GO:0050789) 0.452PSEN2, PSEN1
positive regulation of catalytic activity (GO:0043085) 2.42PSEN2, PSEN1
amyloid precursor protein metabolic process (GO:0042982) 7.242PSEN2, PSEN1
cellular protein metabolic process (GO:0044267) 1.632PSEN2, PSEN1
Notch signaling pathway (GO:0007219) 4.992PSEN2, PSEN1
cellular macromolecule metabolic process (GO:0044260) 0.932PSEN2, PSEN1
cellular process (GO:0009987) 0.262PSEN2, PSEN1
positive regulation of apoptotic process (GO:0043065) 3.382PSEN2, PSEN1
organic substance metabolic process (GO:0071704) 0.632PSEN2, PSEN1
regulation of programmed cell death (GO:0043067) 2.492PSEN2, PSEN1
negative regulation of apoptotic process (GO:0043066) 3.042PSEN2, PSEN1
biological regulation (GO:0065007) 0.392PSEN2, PSEN1
positive regulation of molecular function (GO:0044093) 2.232PSEN2, PSEN1
cation transport (GO:0006812) 3.112PSEN2, PSEN1
positive regulation of biological process (GO:0048518) 1.22PSEN2, PSEN1
negative regulation of biological process (GO:0048519) 1.332PSEN2, PSEN1
regulation of molecular function (GO:0065009) 1.782PSEN2, PSEN1
negative regulation of programmed cell death (GO:0043069) 3.022PSEN2, PSEN1
positive regulation of programmed cell death (GO:0043068) 3.382PSEN2, PSEN1
transport (GO:0006810) 1.512PSEN2, PSEN1
primary metabolic process (GO:0044238) 0.692PSEN2, PSEN1
negative regulation of cell death (GO:0060548) 2.952PSEN2, PSEN1
ion transport (GO:0006811) 2.662PSEN2, PSEN1
regulation of catalytic activity (GO:0050790) 1.972PSEN2, PSEN1
calcium ion transport (GO:0006816) 4.332PSEN2, PSEN1
regulation of cellular process (GO:0050794) 0.52PSEN2, PSEN1
membrane protein ectodomain proteolysis (GO:0006509) 6.642PSEN2, PSEN1
response to stress (GO:0006950) 1.82PSEN2, PSEN1
metal ion transport (GO:0030001) 3.362PSEN2, PSEN1
metabolic process (GO:0008152) 0.582PSEN2, PSEN1
proteolysis (GO:0006508) 2.732PSEN2, PSEN1
protein processing (GO:0016485) 4.622PSEN2, PSEN1
divalent metal ion transport (GO:0070838) 4.152PSEN2, PSEN1
establishment of localization (GO:0051234) 1.482PSEN2, PSEN1
localization (GO:0051179) 1.42PSEN2, PSEN1
organonitrogen compound metabolic process (GO:1901564) 2.322PSEN2, PSEN1
Notch receptor processing (GO:0007220) 6.92PSEN2, PSEN1
divalent inorganic cation transport (GO:0072511) 4.132PSEN2, PSEN1
cellular amide metabolic process (GO:0043603) 3.232PSEN2, PSEN1
protein maturation (GO:0051604) 4.482PSEN2, PSEN1
protein metabolic process (GO:0019538) 1.452PSEN2, PSEN1
response to stimulus (GO:0050896) 1.222PSEN2, PSEN1
regulation of cell death (GO:0010941) 2.432PSEN2, PSEN1
cellular metabolic process (GO:0044237) 0.692PSEN2, PSEN1
macromolecule metabolic process (GO:0043170) 0.832PSEN2, PSEN1
amyloid precursor protein catabolic process (GO:0042987) 7.652PSEN2, PSEN1
peptide metabolic process (GO:0006518) 3.442PSEN2, PSEN1
negative regulation of cellular process (GO:0048523) 1.412PSEN2, PSEN1
positive regulation of cellular process (GO:0048522) 1.32PSEN2, PSEN1

NET-GE enrichment

Term New enriched termICP valueGenes
negative regulation of apoptotic signaling pathway (GO:2001234) NEW4.420.039PSEN2, PSEN1
limb morphogenesis (GO:0035108) NEW5.050.012PSEN2, PSEN1
embryonic limb morphogenesis (GO:0030326) NEW5.240.009PSEN2, PSEN1
membrane protein proteolysis (GO:0033619) -6.170.006PSEN2, PSEN1
memory (GO:0007613) NEW5.130.01PSEN2, PSEN1
T cell activation (GO:0042110) NEW4.450.047PSEN2, PSEN1
regulation of epidermal growth factor receptor signaling pathway (GO:0042058) NEW5.330.006PSEN2, PSEN1
positive regulation of coagulation (GO:0050820) NEW6.510.001PSEN2, PSEN1
regulation of synaptic plasticity (GO:0048167) NEW4.780.018PSEN2, PSEN1
hair cycle phase (GO:0044851) NEW9.040.0PSEN2, PSEN1
amyloid precursor protein catabolic process (GO:0042987) -7.650.0PSEN2, PSEN1
beta-amyloid metabolic process (GO:0050435) -7.090.001PSEN2, PSEN1
segmentation (GO:0035282) NEW5.80.002PSEN2, PSEN1
anagen (GO:0042640) NEW9.730.0PSEN2, PSEN1
amyloid precursor protein metabolic process (GO:0042982) -7.240.0PSEN2, PSEN1
Notch signaling pathway (GO:0007219) -4.990.022PSEN2, PSEN1
T cell activation involved in immune response (GO:0002286) NEW5.760.032PSEN2, PSEN1
dorsal/ventral neural tube patterning (GO:0021904) NEW7.090.0PSEN2, PSEN1
lymphocyte activation involved in immune response (GO:0002285) NEW5.220.008PSEN2, PSEN1
cell fate specification (GO:0001708) NEW5.570.005PSEN2, PSEN1
cell activation involved in immune response (GO:0002263) NEW4.860.016PSEN2, PSEN1
myeloid leukocyte differentiation (GO:0002573) NEW5.230.009PSEN2, PSEN1
cellular response to alkaloid (GO:0071312) NEW6.20.015PSEN2, PSEN1
hematopoietic progenitor cell differentiation (GO:0002244) NEW5.230.013PSEN2, PSEN1
leukocyte activation involved in immune response (GO:0002366) NEW4.880.016PSEN2, PSEN1
endoplasmic reticulum calcium ion homeostasis (GO:0032469) NEW6.730.001PSEN2, PSEN1
thymus development (GO:0048538) NEW5.880.03PSEN2, PSEN1
regulation of protein tyrosine kinase activity (GO:0061097) NEW5.590.039PSEN2, PSEN1
membrane protein ectodomain proteolysis (GO:0006509) -6.640.0PSEN2, PSEN1
hematopoietic or lymphoid organ development (GO:0048534) NEW4.490.038PSEN2, PSEN1
regulation of receptor activity (GO:0010469) NEW4.980.011PSEN2, PSEN1
antigen receptor-mediated signaling pathway (GO:0050851) NEW4.430.025PSEN2, PSEN1
T cell receptor signaling pathway (GO:0050852) NEW4.710.016PSEN2, PSEN1
regulation of ERBB signaling pathway (GO:1901184) NEW5.30.042PSEN2, PSEN1
appendage morphogenesis (GO:0035107) NEW5.050.012PSEN2, PSEN1
myeloid cell differentiation (GO:0030099) NEW4.630.029PSEN2, PSEN1
regulation of epidermal growth factor-activated receptor activity (GO:0007176) NEW6.590.001PSEN2, PSEN1
biological phase (GO:0044848) NEW4.370.001PSEN2, PSEN1
regulation of protein binding (GO:0043393) NEW4.60.021PSEN2, PSEN1
embryonic appendage morphogenesis (GO:0035113) NEW5.240.009PSEN2, PSEN1
somitogenesis (GO:0001756) NEW5.90.027PSEN2, PSEN1
regulation of coagulation (GO:0050818) NEW5.220.009PSEN2, PSEN1
Notch receptor processing (GO:0007220) -6.90.001PSEN2, PSEN1
dorsal/ventral pattern formation (GO:0009953) NEW5.60.006PSEN2, PSEN1
anterior/posterior pattern specification (GO:0009952) NEW4.710.028PSEN2, PSEN1
cellular amide metabolic process (GO:0043603) -3.230.033PSEN2, PSEN1
brain morphogenesis (GO:0048854) NEW7.020.0PSEN2, PSEN1
regulation of peptidyl-tyrosine phosphorylation (GO:0050730) NEW4.350.044PSEN2, PSEN1
peptide metabolic process (GO:0006518) -3.440.012PSEN2, PSEN1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
endoplasmic reticulum (GO:0005783) 2.562PSEN2, PSEN1
cell part (GO:0044464) 0.112PSEN2, PSEN1
endoplasmic reticulum membrane (GO:0005789) 2.952PSEN2, PSEN1
intracellular organelle (GO:0043229) 0.512PSEN2, PSEN1
non-membrane-bounded organelle (GO:0043228) 1.762PSEN2, PSEN1
intracellular (GO:0005622) 2.372PSEN2, PSEN1
membrane-bounded organelle (GO:0043227) 0.472PSEN2, PSEN1
organelle (GO:0043226) 0.42PSEN2, PSEN1
intrinsic component of membrane (GO:0031224) 1.132PSEN2, PSEN1
organelle membrane (GO:0031090) 1.972PSEN2, PSEN1
neuron part (GO:0097458) 2.642PSEN2, PSEN1
intrinsic component of plasma membrane (GO:0031226) 2.532PSEN2, PSEN1
integral component of membrane (GO:0016021) 1.142PSEN2, PSEN1
membrane (GO:0016020) 0.682PSEN2, PSEN1
microtubule organizing center (GO:0005815) 3.422PSEN2, PSEN1
endoplasmic reticulum part (GO:0044432) 2.732PSEN2, PSEN1
Golgi apparatus part (GO:0044431) 3.02PSEN2, PSEN1
cytoskeletal part (GO:0044430) 2.492PSEN2, PSEN1
neuronal cell body (GO:0043025) 3.92PSEN2, PSEN1
Golgi apparatus (GO:0005794) 2.72PSEN2, PSEN1
cell body (GO:0044297) 3.742PSEN2, PSEN1
bounding membrane of organelle (GO:0098588) 2.392PSEN2, PSEN1
nuclear membrane (GO:0031965) 4.22PSEN2, PSEN1
integral component of plasma membrane (GO:0005887) 2.572PSEN2, PSEN1
plasma membrane (GO:0005886) 1.392PSEN2, PSEN1
kinetochore (GO:0000776) 5.052PSEN2, PSEN1
protein complex (GO:0043234) 1.512PSEN2, PSEN1
macromolecular complex (GO:0032991) 1.352PSEN2, PSEN1
intracellular membrane-bounded organelle (GO:0043231) 0.62PSEN2, PSEN1
intracellular non-membrane-bounded organelle (GO:0043232) 1.762PSEN2, PSEN1
plasma membrane part (GO:0044459) 1.952PSEN2, PSEN1
organelle inner membrane (GO:0019866) 3.562PSEN2, PSEN1
Golgi membrane (GO:0000139) 3.282PSEN2, PSEN1
intracellular organelle part (GO:0044446) 0.812PSEN2, PSEN1
cytoplasmic part (GO:0044444) 0.822PSEN2, PSEN1
nuclear part (GO:0044428) 1.552PSEN2, PSEN1
centrosome (GO:0005813) 3.752PSEN2, PSEN1
intracellular part (GO:0044424) 0.282PSEN2, PSEN1
membrane part (GO:0044425) 0.952PSEN2, PSEN1
chromosomal part (GO:0044427) 3.182PSEN2, PSEN1
organelle part (GO:0044422) 0.792PSEN2, PSEN1

NET-GE enrichment

Term New enriched termICP valueGenes
plasma membrane region (GO:0098590) NEW2.970.037PSEN2, PSEN1
site of polarized growth (GO:0030427) NEW4.850.003PSEN2, PSEN1
growth cone (GO:0030426) NEW4.890.04PSEN2, PSEN1
axon (GO:0030424) NEW4.150.007PSEN2, PSEN1
neuromuscular junction (GO:0031594) NEW5.810.0PSEN2, PSEN1
synapse (GO:0045202) NEW3.580.011PSEN2, PSEN1
ciliary rootlet (GO:0035253) NEW7.50.0PSEN2, PSEN1
Z disc (GO:0030018) NEW5.110.028PSEN2, PSEN1
lysosomal membrane (GO:0005765) NEW4.190.013PSEN2, PSEN1
centrosome (GO:0005813) -3.750.029PSEN2, PSEN1
vacuolar membrane (GO:0005774) NEW3.450.016PSEN2, PSEN1
vacuolar part (GO:0044437) NEW3.260.027PSEN2, PSEN1
neuronal cell body (GO:0043025) -3.90.015PSEN2, PSEN1
apical plasma membrane (GO:0016324) NEW4.130.012PSEN2, PSEN1
nuclear membrane (GO:0031965) -4.20.011PSEN2, PSEN1
cell body (GO:0044297) -3.740.021PSEN2, PSEN1
cell cortex (GO:0005938) NEW4.780.039PSEN2, PSEN1
kinetochore (GO:0000776) -5.050.002PSEN2, PSEN1
dendritic shaft (GO:0043198) NEW6.160.003PSEN2, PSEN1
membrane raft (GO:0045121) NEW4.180.009PSEN2, PSEN1
organelle inner membrane (GO:0019866) -3.560.03PSEN2, PSEN1
mitochondrial inner membrane (GO:0005743) NEW3.650.025PSEN2, PSEN1
ciliary part (GO:0044441) NEW4.050.012PSEN2, PSEN1
contractile fiber part (GO:0044449) NEW4.530.008PSEN2, PSEN1