Disease table of FRONTOTEMPORAL DEMENTIA OMIM ID: 600274

Gene-disease associations table

GeneAssociated with FRONTOTEMPORAL DEMENTIA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
GRNClinVarHGNC link17q21.313PS256730, 607485, 600274
PSEN1ClinVar, OMIM, HUMSAVARHGNC link14q24.27607822, 172700, 600274, 104300, PS142690, 606889, PS115200
MAPTClinVar, OMIM, HUMSAVARHGNC link17q21.315PS168600, 600274, 601104, 172700, 260540

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
17q21.312MAPT, GRN
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
17q212MAPT, GRN
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
17q22MAPT, GRN
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
17q2MAPT, GRN
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
172MAPT, GRN
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
GRNMAPTNo3RPS6KA1, EGFR, CDK2
PSEN1MAPTYes9APOE, MAPT, PSEN1, TRAF6, UBC, TUBA1B, GSK3B, CDK5, 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
GRNPSEN1No-1SORT1
GRNMAPTNo-1AKT1
PSEN1MAPTNo-4UBC, MAPK8, GSK3B, BDNF

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

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Alzheimer's diseasehsa050105.342MAPT, PSEN1

NET-GE enrichment

Term New enriched termICP valueGenes
Neurodegenerative diseasesNEW4.270.032MAPT, PSEN1
Alzheimer's disease (hsa05010) -5.340.007MAPT, PSEN1
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
binding (GO:0005488) 0.183MAPT, PSEN1, GRN
protein binding (GO:0005515) 0.463MAPT, PSEN1, GRN
protein domain specific binding (GO:0019904) 3.322MAPT, PSEN1
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
regulation of neuron projection development (GO:0010975) 3.693MAPT, PSEN1, GRN
behavior (GO:0007610) 3.473MAPT, PSEN1, GRN
regulation of cellular component organization (GO:0051128) 2.013MAPT, PSEN1, GRN
signal transduction (GO:0007165) 1.283MAPT, PSEN1, GRN
regulation of cell projection organization (GO:0031344) 3.383MAPT, PSEN1, GRN
single-organism process (GO:0044699) 0.483MAPT, PSEN1, GRN
positive regulation of cell projection organization (GO:0031346) 3.993MAPT, PSEN1, GRN
regulation of neurogenesis (GO:0050767) 3.213MAPT, PSEN1, GRN
positive regulation of multicellular organismal process (GO:0051240) 2.493MAPT, PSEN1, GRN
regulation of cell development (GO:0060284) 3.013MAPT, PSEN1, GRN
positive regulation of neurogenesis (GO:0050769) 3.773MAPT, PSEN1, GRN
regulation of neuron differentiation (GO:0045664) 3.393MAPT, PSEN1, GRN
positive regulation of neuron differentiation (GO:0045666) 3.983MAPT, PSEN1, GRN
biological regulation (GO:0065007) 0.393MAPT, PSEN1, GRN
positive regulation of cell development (GO:0010720) 3.573MAPT, PSEN1, GRN
positive regulation of biological process (GO:0048518) 1.23MAPT, PSEN1, GRN
positive regulation of cellular component organization (GO:0051130) 2.683MAPT, PSEN1, GRN
regulation of developmental process (GO:0050793) 2.13MAPT, PSEN1, GRN
transport (GO:0006810) 1.513MAPT, PSEN1, GRN
regulation of cellular process (GO:0050794) 0.53MAPT, PSEN1, GRN
positive regulation of cell differentiation (GO:0045597) 3.013MAPT, PSEN1, GRN
regulation of cell differentiation (GO:0045595) 2.423MAPT, PSEN1, GRN
positive regulation of neuron projection development (GO:0010976) 4.263MAPT, PSEN1, GRN
regulation of multicellular organismal process (GO:0051239) 1.873MAPT, PSEN1, GRN
establishment of localization (GO:0051234) 1.483MAPT, PSEN1, GRN
localization (GO:0051179) 1.43MAPT, PSEN1, GRN
positive regulation of developmental process (GO:0051094) 2.773MAPT, PSEN1, GRN
response to stimulus (GO:0050896) 1.223MAPT, PSEN1, GRN
regulation of biological process (GO:0050789) 0.453MAPT, PSEN1, GRN
positive regulation of nervous system development (GO:0051962) 3.643MAPT, PSEN1, GRN
regulation of nervous system development (GO:0051960) 3.13MAPT, PSEN1, GRN
regulation of multicellular organismal development (GO:2000026) 2.313MAPT, PSEN1, GRN
positive regulation of cellular process (GO:0048522) 1.33MAPT, PSEN1, GRN
regulation of cell morphogenesis (GO:0022604) 3.42MAPT, PSEN1
cell motility (GO:0048870) 3.022MAPT, PSEN1
regulation of anatomical structure morphogenesis (GO:0022603) 2.792MAPT, PSEN1
cell differentiation (GO:0030154) 2.142MAPT, PSEN1
movement of cell or subcellular component (GO:0006928) 2.612MAPT, PSEN1
positive regulation of dendritic spine development (GO:0060999) 6.172PSEN1, GRN
neuron migration (GO:0001764) 5.02MAPT, PSEN1
intracellular signal transduction (GO:0035556) 2.392MAPT, PSEN1
anatomical structure morphogenesis (GO:0009653) 2.532MAPT, PSEN1
cell death (GO:0008219) 3.052MAPT, PSEN1
cellular component organization or biogenesis (GO:0071840) 1.222MAPT, PSEN1
regulation of dendrite development (GO:0050773) 4.932PSEN1, GRN
positive regulation of dendrite development (GO:1900006) 5.572PSEN1, GRN
cellular developmental process (GO:0048869) 1.822MAPT, PSEN1
cellular component organization (GO:0016043) 1.242MAPT, PSEN1
regulation of dendritic spine development (GO:0060998) 5.72PSEN1, GRN
regulation of cell morphogenesis involved in differentiation (GO:0010769) 3.912MAPT, PSEN1
negative regulation of biological process (GO:0048519) 1.332MAPT, PSEN1
cell migration (GO:0016477) 3.122MAPT, PSEN1
developmental process (GO:0032502) 1.362MAPT, PSEN1
organelle organization (GO:0006996) 2.022MAPT, PSEN1
multicellular organismal process (GO:0032501) 1.452MAPT, PSEN1
cell proliferation (GO:0008283) 3.232PSEN1, GRN
cellular process (GO:0009987) 0.262MAPT, PSEN1
single-organism developmental process (GO:0044767) 1.492MAPT, PSEN1
reproductive process (GO:0022414) 2.552MAPT, GRN
single-organism cellular process (GO:0044763) 0.652MAPT, PSEN1
establishment of localization in cell (GO:0051649) 2.472MAPT, GRN
response to chemical (GO:0042221) 1.982MAPT, GRN
neurogenesis (GO:0022008) 5.452MAPT, PSEN1
response to organic substance (GO:0010033) 2.22MAPT, GRN
regulation of axonogenesis (GO:0050770) 4.592MAPT, PSEN1
locomotion (GO:0040011) 2.912MAPT, PSEN1
animal organ development (GO:0048513) 2.532MAPT, PSEN1
brain development (GO:0007420) 4.242MAPT, PSEN1
single-multicellular organism process (GO:0044707) 1.782MAPT, PSEN1
programmed cell death (GO:0012501) 3.12MAPT, PSEN1
single-organism behavior (GO:0044708) 3.792MAPT, PSEN1
anatomical structure development (GO:0048856) 1.582MAPT, PSEN1
apoptotic process (GO:0006915) 3.142MAPT, PSEN1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.63MAPT, PSEN1, GRN
cell part (GO:0044464) 0.113MAPT, PSEN1, GRN
intracellular organelle (GO:0043229) 0.513MAPT, PSEN1, GRN
cytoplasmic part (GO:0044444) 0.823MAPT, PSEN1, GRN
intracellular part (GO:0044424) 0.283MAPT, PSEN1, GRN
membrane-bounded organelle (GO:0043227) 0.473MAPT, PSEN1, GRN
organelle (GO:0043226) 0.43MAPT, PSEN1, GRN
site of polarized growth (GO:0030427) 4.852MAPT, PSEN1
growth cone (GO:0030426) 4.892MAPT, PSEN1
dendrite (GO:0030425) 3.922MAPT, PSEN1
axon (GO:0030424) 4.152MAPT, PSEN1
non-membrane-bounded organelle (GO:0043228) 1.762MAPT, PSEN1
vesicle (GO:0031982) 1.642PSEN1, GRN
nucleus (GO:0005634) 1.072MAPT, PSEN1
membrane (GO:0016020) 0.682MAPT, PSEN1
neuron part (GO:0097458) 2.642MAPT, PSEN1
cytoskeletal part (GO:0044430) 2.492MAPT, PSEN1
neuron projection (GO:0043005) 3.122MAPT, PSEN1
synapse part (GO:0044456) 3.422MAPT, PSEN1
cell body (GO:0044297) 3.742MAPT, PSEN1
inclusion body (GO:0016234) 5.552MAPT, PSEN1
plasma membrane (GO:0005886) 1.392MAPT, PSEN1
cell projection (GO:0042995) 2.472MAPT, PSEN1
protein complex (GO:0043234) 1.512MAPT, PSEN1
macromolecular complex (GO:0032991) 1.352MAPT, PSEN1
intracellular non-membrane-bounded organelle (GO:0043232) 1.762MAPT, PSEN1
cytosol (GO:0005829) 1.682MAPT, GRN
cell projection part (GO:0044463) 2.972MAPT, PSEN1
intracellular organelle part (GO:0044446) 0.812MAPT, PSEN1
nuclear part (GO:0044428) 1.552MAPT, PSEN1
ciliary part (GO:0044441) 4.052MAPT, PSEN1
organelle part (GO:0044422) 0.792MAPT, PSEN1

NET-GE enrichment

Term New enriched termICP valueGenes
site of polarized growth (GO:0030427) -4.850.01MAPT, PSEN1
growth cone (GO:0030426) -4.890.009MAPT, PSEN1
extracellular matrix (GO:0031012) NEW3.810.013MAPT, PSEN1, GRN
ciliary part (GO:0044441) -4.050.042MAPT, PSEN1
axon (GO:0030424) -4.150.024MAPT, PSEN1