FTD
MCID: FRN006
MIFTS: 72

Frontotemporal Dementia (FTD) malady

Summaries for Frontotemporal Dementia

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42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Frontotemporal dementia describes a group of conditions associated with shrinking of the frontal and temporal anterior lobes of the brain. symptoms include either variable changes in behavior (e.g., impulsive, bored, listless, lack of social contact, lack of empathy, distractibility, blunted emotions, compulsive behavior, decreased energy and motivation) or problems with language (e.g., difficulty making or understanding speech). spatial skills and memory remain intact. there is a strong genetic component to the disease; it often runs in families. there is no cure for frontotemporal dementia at this time, as a result treatment remains supportive.although the name and classification of ftd has been a topic of discussion for over a century, the current classification of the syndrome groups together pick’s disease, primary progressive aphasia, and semantic dementia as ftd. some doctors propose adding corticobasal degeneration and progressive supranuclear palsy to ftd and calling the group pick complex. you can click on the links to view the gard pages on these conditions. last updated: 8/22/2011

MalaCards: Frontotemporal Dementia, also known as dementia, frontotemporal, is related to dementia and alzheimer's disease. An important gene associated with Frontotemporal Dementia is PSEN1 (presenilin 1), and among its related pathways are Notch Pathway and Alzheimers Disease Pathway. The compounds thioflavine s and 4-hydroxynonenal have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and bone, and related mouse phenotypes are behavior/neurological and nervous system.

NINDS:43 Frontotemporal dementia (FTD) describes a clinical syndrome associated with shrinking of the frontal and temporal anterior lobes of the brain. Originally known as Pick?s disease, the name and classification of FTD has been a topic of discussion for over a century.

Wikipedia:63 Frontotemporal dementia (FTD) is a neurodegenerative disease characterized by progressive neuronal loss... more...

Description from OMIM:46 600274

Aliases & Classifications for Frontotemporal Dementia

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 22GTR, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT
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Aliases & Descriptions:

frontotemporal dementia 8 42 43 10 44 60
dementia, frontotemporal 9 22 46
multiple system tauopathy with presenile dementia 8 60
frontotemporal lobar degeneration 8 60
pallidopontonigral degeneration 8 60
dementia, frontotemporal, with parkinsonism 42
frontotemporal dementia with parkinsonism 42
frontotemporal lobe dementia 42
wilhelmsen-lynch disease 8
mstd 42
ftd 42


External Ids:

Disease Ontology8 DOID:9255
SNOMED-CT56 42369001
OMIM46 600274

Related Diseases for Frontotemporal Dementia

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Frontotemporal Dementia family:

Grn-Related Frontotemporal Dementia Tardbp-Related Frontotemporal Dementia
Chmp2b-Related Frontotemporal Dementia

Diseases related to Frontotemporal Dementia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 130)
idRelated DiseaseScoreTop Affiliating Genes
1dementia32.3VCP, TARDBP, MAPT, GRN, SNCA, STH
2alzheimer's disease31.5VCP, TARDBP, INA, MAPT, GRN, SNCA
3amyotrophic lateral sclerosis31.4GRN, CHMP2B, C9orf72, SNCA, CRYAB, PSEN1
4lateral sclerosis31.4SOD1, SNCA, MAPT
5motor neuron disease31.2VCP, TARDBP, INA, MAPT, GRN, SNCA
6inclusion body myopathy with early-onset paget disease and frontotemporal dementia31.1MPFD, VCP
7myopathy31.1RPS27A, CRYAB, VCP
8aphasia31.1FUS, TARDBP, MAPT, GRN, C9orf72
9pick's disease31.1PSEN1, MAPT
10progressive supranuclear palsy31.0MAPT, SNCA, APOE, RPS27A
11tauopathy30.8INA, MAPT, GRN, SNCA, STH, PSEN1
12schizophrenia30.8SNCA, PSEN1
13lewy body dementia30.7RPS27A, APOE, SNCA, MAPT
14brain disease30.6PSEN1, SNCA, MAPT
15paget's disease of bone30.5VCP
16vascular dementia30.4APOE
17parkinson's disease30.4RPS27A, SOD1, ISG15, APOE, VCP, MAPT
18myositis30.4RPS27A, PSEN1, SNCA, MAPT
19amyloidosis30.4RPS27A, APOE, PSEN1, PSEN2, SNCA, MAPT
20apraxia30.4GRN, MAPT
21inclusion body myositis30.4MAPT, RPS27A
22primary progressive aphasia30.3MAPT, GRN, RPS27A
23huntington's disease30.3MAPT, SNCA, PSEN2, PSEN1, SOD1, RPS27A
24semantic dementia30.1MAPT, GRN, RPS27A
25frontotemporal lobar degeneration with ubiquitin-positive inclusions30.1GRN
26prion disease30.1MAPT, PSEN2, PSEN1
27rem sleep behavior disorder30.1SNCA
28multiple sclerosis30.1APOE, CRYAB
29neuronitis10.9
30grn-related frontotemporal dementia10.7
31frontotemporal dementia with parkinsonism-1710.6
32amyotrophic lateral sclerosis with frontotemporal dementia10.6
33chmp2b-related frontotemporal dementia10.6
34cerebritis10.5
35frontotemporal dementia, chromosome 3-linked10.5
36inclusion body myopathy with paget disease of bone and/or frontotemporal dementia10.5
37bipolar disorder10.4
38chromosomal disease10.4
39frontotemporal lobar degeneration, tardbp-related10.4
40intracranial hypotension10.4
41frontotemporal dementia, ubiquitin-positive10.4
42inclusion body myopathy with early-onset paget disease and frontotemporal dementia 110.4
43amyotrophic lateral sclerosis 14, with or without frontotemporal dementia10.4
44pathological gambling10.3
45tardbp-related frontotemporal dementia10.3
46inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 310.3
47prosopagnosia10.3
48neurologic diseases10.3
49adult polyglucosan body disease10.3
50progressive non-fluent aphasia10.3

Graphical network of the top 20 diseases related to Frontotemporal Dementia:



Diseases related to frontotemporal dementia

Clinical Features for Frontotemporal Dementia

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46OMIM
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Clinical features from OMIM:

600274

Clinical synopsis from OMIM:

600274

Drugs & Therapeutics for Frontotemporal Dementia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Frontotemporal Dementia

Drug clinical trials:

Search ClinicalTrials for Frontotemporal Dementia

Search NIH Clinical Center for Frontotemporal Dementia

Search CenterWatch for Frontotemporal Dementia

Genetic Tests for Frontotemporal Dementia

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22GTR
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Genetic tests related to Frontotemporal Dementia:

id Genetic test Affiliating Genes
1 Frontotemporal Dementia22

Anatomical Context for Frontotemporal Dementia

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32MalaCards
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MalaCards organs/tissues related to Frontotemporal Dementia:

32
Brain, Temporal lobe, Bone, Cortex, Testes, Eye, Prefrontal cortex, Monocytes, Hypothalamus

Animal Models for Frontotemporal Dementia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Frontotemporal Dementia:

36 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538610.6PSEN2, PSEN1, APOE, SOD1, CRYAB, SNCA
2MP:000363110.6FUS, SOD1, APOE, PSEN1, PSEN2, PIN1
3MP:000538710.6PSEN1, APOE, ISG15, SOD1, PSEN2, CRYAB
4MP:000538410.6PSEN2, PSEN1, APOE, SOD1, PIN1, SNCA
5MP:000539110.6SOD1, APOE, PSEN1, PSEN2, PIN1, CRYAB
6MP:000537810.5APOE, PSEN1, PSEN2, PIN1, CRYAB, SNCA
7MP:000539510.5APOE, PSEN1, PIN1, MAPT
8MP:001076810.5PSEN2, PSEN1, APOE, SOD1, CRYAB, SNCA
9MP:000537910.4FUS, PSEN2, PSEN1
10MP:000539710.4APOE, PSEN1, PSEN2, GRN, MAPT, VCP
11MP:000539010.3SOD1, ISG15, APOE, PSEN1, CRYAB, SNCA
12MP:001077110.1PSEN1, PSEN2, PIN1, MAPT, VCP

Publications for Frontotemporal Dementia

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50PubMed
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Articles related to Frontotemporal Dementia:

(show top 50)    (show all 819)
idTitleAuthorsYear
1
Psychosis and hallucinations in frontotemporal dementia with the C9ORF72 mutation: a detailed clinical cohort. (24077574)
2013
2
Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia. (23063648)
2013
3
Neuropsychological Correlates of Behavioral Symptoms in Alzheimer's Disease, Frontal Variant of Frontotemporal, Subcortical Vascular, and Lewy Body Dementias: A Comparative Study. (24254701)
2013
4
Neuropsychiatric Symptom Profile Differs Based on Pathology in Patients with Clinically Diagnosed Behavioral Variant Frontotemporal Dementia. (24135712)
2013
5
Environmental dependency behaviours in frontotemporal dementia: have we been underrating them? (23108491)
2013
6
Hypersexual behavior in frontotemporal dementia: a comparison with early-onset Alzheimer's disease. (23297146)
2013
7
Implicit emotional awareness in frontotemporal dementia. (24251612)
2013
8
Expansion mutation in C9ORF72 does not influence plasma progranulin levels in frontotemporal dementia. (22502998)
2012
9
Differential impairment of source memory in progressive versus non-progressive behavioral variant frontotemporal dementia. (22414677)
2012
10
Voxel-based morphometry in patients with obsessive-compulsive behaviors in behavioral variant frontotemporal dementia. (22284815)
2012
11
Frontotemporal dementia as a frontostriatal disorder: neostriatal morphology as a biomarker and structural basis for an endophenotype. (22535292)
2012
12
Executive dysfunction in frontotemporal dementia is related to abnormalities in frontal white matter tracts. (22037958)
2012
13
Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. (21810890)
2011
14
Neural correlates of episodic memory in behavioral variant frontotemporal dementia. (21239854)
2011
15
Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review. (20971753)
2011
16
Visual rating versus volumetry to detect frontotemporal dementia. (21625137)
2011
17
False reports from patients with frontotemporal dementia: delusions or confabulations? (21876263)
2011
18
Frontotemporal dementia and motor neuron disease: report of 3 cases in Taiwan and literature review. (22009125)
2011
19
Relationship between occupation attributes and brain metabolism in frontotemporal dementia. (21958648)
2011
20
Some is not enough: quantifier comprehension in corticobasal syndrome and behavioral variant frontotemporal dementia. (21930136)
2011
21
Uplifting news for frontotemporal dementia: The sagging brain syndrome. (21502594)
2011
22
Frontotemporal dementia. (21121522)
2010
23
Serotonin transporter and saitohin genes in risk of Alzheimer's disease and frontotemporal lobar dementia: preliminary findings. (20852909)
2010
24
Anosognosia for behavioral disturbances in frontotemporal dementia and corticobasal syndrome: A voxel-based morphometry study. (20150729)
2010
25
Divergent network connectivity changes in behavioural variant frontotemporal dementia and Alzheimer's disease. (20410145)
2010
26
Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in two siblings with frontotemporal dementia. (19768372)
2010
27
Commentary: The forensic psychiatry of frontotemporal dementia. (20852217)
2010
28
Clinical characteristics of patients with frontotemporal dementia with and without lobar atrophy on MRI. (20683185)
2010
29
Can IQCODE differentiate Alzheimer's disease and frontotemporal dementia? (20178996)
2010
30
TDP-43 subtypes are associated with distinct atrophy patterns in frontotemporal dementia. (21172843)
2010
31
Morbid risk for schizophrenia in first-degree relatives of people with frontotemporal dementia. (20592430)
2010
32
Neurobehavioral features in frontotemporal dementia with amyotrophic lateral sclerosis. (20625088)
2010
33
No association of common VCP variants with sporadic frontotemporal dementia. (17618707)
2009
34
Refining frontotemporal dementia with parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN). (18413467)
2008
35
Valosin-containing protein and the pathogenesis of frontotemporal dementia associated with inclusion body myopathy. (17457594)
2007
36
Characteristics of frontotemporal dementia patients with a Progranulin mutation. (16983677)
2006
37
Frontotemporal dementia, chromosome 17, and progranulin. (16983680)
2006
38
Neuronal ubiquitinated intranuclear inclusions in familial and non-familial frontotemporal dementia of the motor neuron disease type associated with amyotrophic lateral sclerosis. (15330335)
2004
39
Familial frontotemporal dementia: a report of three cases of severe cerebral atrophy with rare inclusions that are negative for tau and synuclein, but positive for ubiquitin. (15108011)
2004
40
Total and phosphorylated tau proteins: evaluation as core biomarker candidates in frontotemporal dementia. (15178952)
2004
41
Promotion of hyperphosphorylation by frontotemporal dementia tau mutations. (15190058)
2004
42
Japanese contribution to the understanding of frontotemporal dementia and parkinsonism linked to chromosome 17(FTDP-17)]. (12684990)
2003
43
Tau protein in frontotemporal dementia linked to chromosome 3 (FTD-3). (14503643)
2003
44
Microtubule associated protein (tau) gene variability in patients with frontotemporal dementia. (12121033)
2002
45
Genetic analysis in patients with familial and sporadic frontotemporal dementia: two tau mutations in only familial cases and no association with apolipoprotein epsilon4. (11598310)
2001
46
Tau mutations in frontotemporal dementia FTDP-17 and their relevance for Alzheimer's disease. (10899436)
2000
47
Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. (11015796)
2000
48
Biochemical and molecular characterization of neurofibrillary degeneration in frontotemporal dementias. (10436346)
1999
49
Pick's disease, frontotemporal dementia, and Pick complex: emerging concepts. (9520003)
1998
50
Determination of the gene structure of human GFAP and absence of coding region mutations associated with frontotemporal dementia with parkinsonism linked to chromosome 17. (9693047)
1998

Genetic Variations for Frontotemporal Dementia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Frontotemporal Dementia:

62 (show all 12)
id Symbol AA change Variation ID SNP ID
1MAPTp.Gly589ValVAR_010345
2MAPTp.Asn596LysVAR_010346
3MAPTp.Pro618LeuVAR_010348
4MAPTp.Pro618SerVAR_010349
5MAPTp.Ser622AsnVAR_010350
6MAPTp.Val654MetVAR_010351
7MAPTp.Arg5HisVAR_019660rs63750959
8MAPTp.Leu583ValVAR_019662
9MAPTp.Asn613HisVAR_019663
10MAPTp.Glu659ValVAR_019666
11MAPTp.Lys634MetVAR_037440
12PSEN1p.Leu113ProVAR_016215

Expression for genes affiliated with Frontotemporal Dementia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Frontotemporal Dementia

Search GEO for disease gene expression data for Frontotemporal Dementia.

Pathways for genes affiliated with Frontotemporal Dementia

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Sources:
59Tocris Bioscience, 51QIAGEN, 53Reactome, 29KEGG, 37NCBI BioSystems Database, 4Cell Signaling Technology
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Compounds for genes affiliated with Frontotemporal Dementia

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44Novoseek, 24HMDB, 59Tocris Bioscience, 11DrugBank, 2BitterDB, 49PharmGKB, 28IUPHAR
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Compounds related to Frontotemporal Dementia according to GeneCards/GeneDecks:

(show top 50)    (show all 57)
idCompoundScoreTop Affiliating Genes
1thioflavine s4410.9MAPT, SNCA, APOE, RPS27A
24-hydroxynonenal44 2411.9RPS27A, SOD1, APOE, PSEN1, SNCA, MAPT
3formate4410.9RPS27A, SOD1, APOE, SNCA, MAPT
4s-1824410.9PSEN1, PSEN2
5lactacystin4410.9RPS27A, APOE, PSEN1, PSEN2, SNCA, MAPT
6valine4410.9RPS27A, APOE, PSEN1, PSEN2, SNCA, MAPT
7mrk 5605910.9PSEN1, PSEN2
8sodium dodecylsulfate4410.9MAPT, SNCA, APOE, RPS27A
9glutamine4410.9RPS27A, APOE, PSEN1, CRYAB, SNCA, MAPT
10jlk 65910.9PSEN1, PSEN2
11begacestat5910.9PSEN1, PSEN2
12thioflavin4410.8MAPT, SNCA
13n acetylcysteine4410.8RPS27A, SOD1, APOE, SNCA, MAPT
14l-685,4585910.8PSEN1, PSEN2
15biotin44 11 2412.8PSEN2, PSEN1, APOE, RPS27A
16paraffin4410.8RPS27A, APOE, PSEN2, CRYAB, SNCA, MAPT
17cysteine4410.8RPS27A, SOD1, ISG15, APOE, PSEN1, SNCA
18dapt5910.8PSEN2, PSEN1
19glutamate4410.8RPS27A, SOD1, APOE, PSEN1, PSEN2, SNCA
20h2o24410.8RPS27A, SOD1, APOE, PSEN1, PSEN2, CRYAB
21spec-t4410.8MAPT, PSEN1, APOE
22lysine4410.8RPS27A, ISG15, PSEN1, PSEN2, CRYAB, SNCA
23aspartate4410.8RPS27A, APOE, PSEN1, PSEN2, PIN1, CRYAB
24alanine4410.8RPS27A, SOD1, APOE, PSEN1, PIN1, SNCA
25cycloheximide4410.8RPS27A, ISG15, APOE, PSEN1, PSEN2, MAPT
26choline44 11 2412.8PSEN1, PSEN2, SNCA, MAPT
27rotenone4410.8RPS27A, SOD1, SNCA
28tmao4410.8MAPT, SNCA
29actinomycin d4410.8RPS27A, APOE, PSEN2, CRYAB, MAPT
306-hydroxydopamine4410.8RPS27A, SOD1, SNCA
31juglone4410.8MAPT, PIN1
32hydrogen44 2411.8SNCA, PIN1, PSEN1, ISG15, RPS27A
33serine4410.8RPS27A, APOE, PSEN1, PSEN2, PIN1, SNCA
34arginine4410.8RPS27A, SOD1, APOE, PSEN1, SNCA, MAPT
35vitamin b124410.8MAPT, PSEN1, APOE
36superoxide44 2411.7SOD1, PSEN1, CRYAB, TARDBP, VCP
37guanidine hydrochloride4410.7RPS27A, APOE, SNCA
38peroxynitrite4410.7SNCA, PSEN1, SOD1
393-nitrotyrosine4410.7SOD1, SNCA
40thioflavin t4410.7SNCA, APOE
41amide4410.7PIN1, ISG15, RPS27A
42silver4410.7RPS27A, SNCA, MAPT
43chloroquine44 2 49 28 1114.6MAPT, APOE, RPS27A
44retinoic acid44 2411.6RPS27A, ISG15, PSEN1, PSEN2, MAPT, INA
45tamoxifen44 49 28 1113.5RPS27A, APOE, PSEN2
46methionine4410.5MAPT, SNCA, CRYAB, PSEN1
47tacrine44 1111.5APOE, MAPT
48nmda44 2811.5MAPT, PSEN1, APOE, RPS27A
49levodopa44 1111.3SNCA, SOD1, RPS27A
50glucose4410.1PSEN1, PSEN2, CRYAB, SNCA, GRN, MAPT

GO Terms for genes affiliated with Frontotemporal Dementia

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16Gene Ontology
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Cellular components related to Frontotemporal Dementia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1growth coneGO:03042610.6MAPT, SNCA, PSEN2, PSEN1
2axonGO:03042410.6PSEN1, PSEN2, SNCA, MAPT
3cytoplasmGO:00573710.5FUS, SOD1, UBQLN2, ISG15, APOE, PIN1
4ciliary rootletGO:03525310.5PSEN2, PSEN1
5cell cortexGO:00593810.4PSEN1, PSEN2, SNCA
6cytosolGO:00582910.4RPS27A, SNCA, CHMP2B, VCP, CRYAB, PSEN2
7neuronal cell bodyGO:04302510.3PSEN2, PSEN1, APOE, SOD1
8Z discGO:03001810.1PSEN1, PSEN2, CRYAB

Biological processes related to Frontotemporal Dementia according to GeneCards/GeneDecks:

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1Notch receptor processingGO:00722010.8RPS27A, PSEN2, PSEN1
2positive regulation of coagulationGO:05082010.8PSEN1, PSEN2
3negative regulation of neuron apoptotic processGO:04352410.8SOD1, SNCA, APOE, PSEN1
4cell deathGO:00821910.8FUS, UBQLN2, APOE, C9orf72, CHMP2B, GRN
5myeloid leukocyte differentiationGO:00257310.8PSEN2, PSEN1
6negative regulation of cholesterol biosynthetic processGO:04554110.8SOD1, APOE
7negative regulation of type I interferon productionGO:03248010.8RPS27A, ISG15, PIN1
8thymus developmentGO:04853810.8PSEN2, PSEN1, SOD1
9positive regulation of catalytic activityGO:04308510.8SOD1, PSEN1, PSEN2
10negative regulation of intracellular transportGO:03238710.8CRYAB, MAPT
11T cell activation involved in immune responseGO:00228610.8PSEN2, PSEN1
12endoplasmic reticulum calcium ion homeostasisGO:03246910.7PSEN1, PSEN2
13amyloid precursor protein catabolic processGO:04298710.7PSEN2, PSEN1
14neurofilament cytoskeleton organizationGO:06005210.7INA, SOD1
15beta-amyloid metabolic processGO:05043510.7PSEN2, PSEN1
16positive regulation of receptor recyclingGO:00192110.7PSEN1, SNCA
17negative regulation of apoptotic processGO:04306610.7PSEN2, SNCA, CRYAB, RPS27A, PSEN1
18positive regulation of apoptotic processGO:04306510.6PSEN2, RPS27A, SOD1, PSEN1
19anagenGO:04264010.6PSEN1, PSEN2
20T cell receptor signaling pathwayGO:05085210.6RPS27A, PSEN1, PSEN2
21agingGO:00756810.5SNCA, CRYAB, APOE
22brain morphogenesisGO:04885410.5PSEN1, PSEN2
23cell fate specificationGO:00170810.5PSEN2, PSEN1
24dorsal/ventral neural tube patterningGO:02190410.4PSEN2, PSEN1
25hematopoietic progenitor cell differentiationGO:00224410.2PSEN2, PSEN1

Molecular functions related to Frontotemporal Dementia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tau protein bindingGO:04815610.5SNCA, APOE
2identical protein bindingGO:04280210.4TARDBP, SOD1, APOE, CRYAB, SNCA, FUS
3protein bindingGO:00551510.2UBQLN2, SOD1, FUS, ISG15, APOE, PSEN1
4lipoprotein particle bindingGO:07181310.2MAPT, APOE

Products for genes affiliated with Frontotemporal Dementia

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Sources for Frontotemporal Dementia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet