FTDALS1
MCID: FRN044
MIFTS: 43

Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 (FTDALS1)

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases

Aliases & Classifications for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

MalaCards integrated aliases for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:

Name: Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 57 12 75
Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia 57 12 75 13
Ftdals1 57 12 75 15
Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia 1 29 6 73
Frontotemporal Dementia and/or Motor Neuron Disease 57 12 75
Ftdmnd 57 12 75
Alsftd 57 12 75
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 57 29
Frontotemporal Dementia with Motor Neuron Disease 59 73
Frontotemporal Lobar Degeneration 44 73
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis; Ftdals 57
Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia; Alsftd 57
Frontotemporal Dementia and/or Motor Neuron Disease; Ftdmnd 57
Frontotemporal Dementia with Amyotrophic Lateral Sclerosis 59
Grn-Related Frontotemporal Dementia 73
Ftd-Als 59
Ftd-Mnd 59
Ftdals 57

Characteristics:

Orphanet epidemiological data:

59
frontotemporal dementia with motor neuron disease
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in adulthood
rapidly progressive
patients can have als, ftd, or both
intrafamilial variability


HPO:

32
frontotemporal dementia and/or amyotrophic lateral sclerosis 1:
Onset and clinical course adult onset rapidly progressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

OMIM : 57 Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) is an autosomal dominant neurodegenerative disorder characterized by adult onset of one or both of these features in an affected individual, with significant intrafamilial variation. The disorder is genetically and pathologically heterogeneous (summary by Vance et al., 2006). Patients with C9ORF72 repeat expansions tend to show a lower age of onset, shorter survival, bulbar symptom onset, increased incidence of neurodegenerative disease in relatives, and a propensity toward psychosis or hallucinations compared to patients with other forms of ALS and/or FTD (summary by Harms et al., 2013). Patients with C9ORF72 repeat expansions also show psychiatric disturbances that may predate the onset of dementia (Meisler et al., 2013; Gomez-Tortosa et al., 2013). For a general phenotypic description of frontotemporal dementia, also known as frontotemporal lobar degeneration (FTLD), see 600274. For a general discussion of motor neuron disease (MND), see amyotrophic lateral sclerosis-1 (ALS1; 105400). (105550)

MalaCards based summary : Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1, also known as amyotrophic lateral sclerosis and/or frontotemporal dementia, is related to motor neuron disease and lateral sclerosis, and has symptoms including muscle weakness, paraparesis and abnormality of extrapyramidal motor function. An important gene associated with Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 is C9orf72 (Chromosome 9 Open Reading Frame 72). Affiliated tissues include brain, temporal lobe and spinal cord, and related phenotypes are depressivity and dysarthria

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.

UniProtKB/Swiss-Prot : 75 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1: An autosomal dominant neurodegenerative disorder characterized by adult onset of frontotemporal dementia and/or amyotrophic lateral sclerosis in an affected individual. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis.

Related Diseases for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Diseases in the Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 family:

Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

Diseases related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 motor neuron disease 29.6 C9orf72 CHCHD10 FUS GRN SQSTM1 TARDBP
2 lateral sclerosis 28.4 ATXN2 C9orf72 CHCHD10 FUS SQSTM1 TARDBP
3 frontotemporal dementia 27.8 C9orf72 CHCHD10 CHMP2B FUS GRN IFT74
4 dementia 27.2 C9orf72 CHCHD10 CHMP2B FUS GRN PSEN1
5 amyotrophic lateral sclerosis 1 22.8 ATXN2 C9orf72 CHCHD10 CHMP2B FUS GRN
6 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 12.9
7 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 12.6
8 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 10.9
9 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 10.9
10 postpoliomyelitis syndrome 10.7 TARDBP VCP
11 amyotrophic lateral sclerosis type 6 10.6 FUS TARDBP
12 inclusion body myopathy with paget disease of bone and frontotemporal dementia 10.6 TARDBP VCP
13 amyotrophic lateral sclerosis 18 10.5 C9orf72 FUS TARDBP
14 brown-vialetto-van laere syndrome 10.5 C9orf72 TARDBP UBQLN2
15 inclusion body myositis 10.5 SQSTM1 TARDBP VCP
16 neuronitis 10.5
17 frontotemporal dementia with parkinsonism-17 10.5
18 perry syndrome 10.5 C9orf72 GRN TARDBP
19 lethal congenital contracture syndrome 1 10.4 FUS TARDBP
20 amyotrophic lateral sclerosis 21 10.4 C9orf72 FUS TARDBP VCP
21 progressive muscular atrophy 10.3 C9orf72 TARDBP
22 mutism 10.3 CHMP2B GRN
23 amyotrophic lateral sclerosis type 14 10.3 FUS TARDBP UBQLN2 VCP
24 alexia 10.2 PSEN1 TARDBP
25 prosopagnosia 10.2 GRN PSEN1
26 phonagnosia 10.2 GRN PSEN1 TARDBP
27 expressive language disorder 10.2 FUS PSEN1 TARDBP
28 associative agnosia 10.1 GRN PSEN1 TARDBP
29 writing disorder 10.1 GRN PSEN1 TARDBP
30 apraxia 10.1 C9orf72 GRN PSEN1
31 aphasia 9.8 C9orf72 CHMP2B GRN PSEN1
32 pick disease of brain 9.7 FUS GRN PSEN1 SQSTM1 TARDBP
33 central nervous system disease 9.7 C9orf72 FUS GRN PSEN1 TARDBP
34 nervous system disease 9.6 C9orf72 FUS GRN PSEN1 TARDBP
35 visual agnosia 9.6 GRN PSEN1
36 gait apraxia 9.6 CBS GRN PSEN1
37 echolalia 9.6 CBS GRN PSEN1
38 agraphia 9.4 CBS GRN PSEN1 TARDBP
39 semantic dementia 9.4 C9orf72 CHMP2B GRN PSEN1 TARDBP TMEM106B
40 dementia, lewy body 9.4 CBS GRN PSEN1 TARDBP
41 progressive non-fluent aphasia 9.4 C9orf72 CHMP2B GRN PSEN1 TMEM106B VCP
42 supranuclear palsy, progressive, 1 9.2 C9orf72 CBS GRN PSEN1 TARDBP
43 ideomotor apraxia 9.2 CBS FUS GRN PSEN1 TARDBP
44 behavioral variant of frontotemporal dementia 9.1 C9orf72 CHMP2B GRN PSEN1 SQSTM1 TMEM106B
45 speech and communication disorders 8.9 C9orf72 CBS FUS GRN PSEN1 TARDBP
46 nominal aphasia 8.0 C9orf72 CBS CHMP2B FUS GRN PSEN1
47 basal ganglia disease 7.5 C9orf72 CBS CHCHD10 CHMP2B FUS GRN

Graphical network of the top 20 diseases related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:



Diseases related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Symptoms & Phenotypes for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
hallucinations
apraxia
parkinsonism
paraparesis
more
Neurologic Behavioral Psychiatric Manifestations:
apathy
depression
executive dysfunction
poor judgement

Muscle Soft Tissue:
muscle weakness
muscle atrophy

Head And Neck Eyes:
supranuclear gaze palsy (less common)


Clinical features from OMIM:

105550

Human phenotypes related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 depressivity 32 HP:0000716
2 dysarthria 32 HP:0001260
3 muscle weakness 32 HP:0001324
4 hallucinations 32 HP:0000738
5 skeletal muscle atrophy 32 HP:0003202
6 apraxia 32 HP:0002186
7 amyotrophic lateral sclerosis 32 HP:0007354
8 cerebral atrophy 32 HP:0002059
9 parkinsonism 32 HP:0001300
10 apathy 32 HP:0000741
11 tetraparesis 32 HP:0002273
12 paraparesis 32 HP:0002385
13 frontotemporal dementia 32 HP:0002145
14 supranuclear gaze palsy 32 occasional (7.5%) HP:0000605
15 delusions 32 HP:0000746
16 neuronal loss in central nervous system 32 HP:0002529
17 gliosis 32 HP:0002171
18 dyscalculia 32 HP:0002442
19 extrapyramidal dyskinesia 32 HP:0007308
20 abnormal lower motor neuron morphology 32 HP:0002366

UMLS symptoms related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:


muscle weakness, paraparesis, abnormality of extrapyramidal motor function, quadriparesis

Drugs & Therapeutics for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Diagnosing Frontotemporal Lobar Degeneration Recruiting NCT02964637
2 Understanding Clinical Phenotype and Collecting Biomarker Samples in C9ORF72 ALS Active, not recruiting NCT02686268

Search NIH Clinical Center for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Cochrane evidence based reviews: frontotemporal lobar degeneration

Genetic Tests for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Genetic tests related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia 1 29 C9orf72
2 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 29

Anatomical Context for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

MalaCards organs/tissues related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:

41
Brain, Temporal Lobe, Spinal Cord, Skeletal Muscle

Publications for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Articles related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:

# Title Authors Year
1
Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. ( 22366793 )
2012

Variations for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

ClinVar genetic disease variations for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:

6
(show top 50) (show all 88)
# Gene Variation Type Significance SNP ID Assembly Location
1 SQSTM1 NM_003900.4(SQSTM1): c.970_1165del single nucleotide variant Pathogenic rs796051870 GRCh38 Chromosome 5, 179833783: 179833783
2 SQSTM1 NM_003900.4(SQSTM1): c.970_1165del single nucleotide variant Pathogenic rs796051870 GRCh37 Chromosome 5, 179260783: 179260783
3 C9orf72 NM_001256054.1(C9orf72): c.-45+163_-45+168GGGGCC[(24_?)] NT expansion Pathogenic rs71492753 GRCh37 Chromosome 9, 27573527: 27573532
4 C9orf72 NM_001256054.1(C9orf72): c.-45+163_-45+168GGGGCC[(24_?)] NT expansion Pathogenic rs71492753 GRCh38 Chromosome 9, 27573529: 27573534
5 C9orf72 NM_001256054.2(C9orf72): c.-45+163_-45+180GGGGCC(2_25) NT expansion Benign GRCh38 Chromosome 9, 27573529: 27573534
6 C9orf72 NM_001256054.2(C9orf72): c.-45+163_-45+180GGGGCC(2_25) NT expansion Benign GRCh37 Chromosome 9, 27573527: 27573532
7 C9orf72 NG_031977.1: g.5321_5326GGGGCC(60_?) NT expansion Pathogenic rs71492753 GRCh38 Chromosome 9, 27573529: 27573534
8 C9orf72 NG_031977.1: g.5321_5326GGGGCC(60_?) NT expansion Pathogenic rs71492753 GRCh37 Chromosome 9, 27573527: 27573532
9 SQSTM1 NM_001142298.1(SQSTM1): c.-47-1924C> T single nucleotide variant Likely benign rs200396166 GRCh38 Chromosome 5, 179821034: 179821034
10 SQSTM1 NM_001142298.1(SQSTM1): c.-47-1924C> T single nucleotide variant Likely benign rs200396166 GRCh37 Chromosome 5, 179248034: 179248034
11 SQSTM1 NM_003900.4(SQSTM1): c.822G> C (p.Glu274Asp) single nucleotide variant Benign/Likely benign rs55793208 GRCh37 Chromosome 5, 179260099: 179260099
12 SQSTM1 NM_003900.4(SQSTM1): c.822G> C (p.Glu274Asp) single nucleotide variant Benign/Likely benign rs55793208 GRCh38 Chromosome 5, 179833099: 179833099
13 SQSTM1 NM_003900.4(SQSTM1): c.924G> A (p.Ala308=) single nucleotide variant Likely benign rs139482113 GRCh37 Chromosome 5, 179260201: 179260201
14 SQSTM1 NM_003900.4(SQSTM1): c.924G> A (p.Ala308=) single nucleotide variant Likely benign rs139482113 GRCh38 Chromosome 5, 179833201: 179833201
15 SQSTM1 NM_003900.4(SQSTM1): c.954C> T (p.Ser318=) single nucleotide variant Benign/Likely benign rs56092424 GRCh37 Chromosome 5, 179260231: 179260231
16 SQSTM1 NM_003900.4(SQSTM1): c.954C> T (p.Ser318=) single nucleotide variant Benign/Likely benign rs56092424 GRCh38 Chromosome 5, 179833231: 179833231
17 SQSTM1 NM_003900.4(SQSTM1): c.961C> T (p.Arg321Cys) single nucleotide variant Benign/Likely benign rs140226523 GRCh37 Chromosome 5, 179260238: 179260238
18 SQSTM1 NM_003900.4(SQSTM1): c.961C> T (p.Arg321Cys) single nucleotide variant Benign/Likely benign rs140226523 GRCh38 Chromosome 5, 179833238: 179833238
19 SQSTM1 NM_003900.4(SQSTM1): c.1044G> A (p.Pro348=) single nucleotide variant Benign/Likely benign rs10058037 GRCh37 Chromosome 5, 179260661: 179260661
20 SQSTM1 NM_003900.4(SQSTM1): c.1044G> A (p.Pro348=) single nucleotide variant Benign/Likely benign rs10058037 GRCh38 Chromosome 5, 179833661: 179833661
21 SQSTM1 NM_003900.4(SQSTM1): c.819A> G (p.Pro273=) single nucleotide variant Conflicting interpretations of pathogenicity rs200388590 GRCh38 Chromosome 5, 179833096: 179833096
22 SQSTM1 NM_003900.4(SQSTM1): c.819A> G (p.Pro273=) single nucleotide variant Conflicting interpretations of pathogenicity rs200388590 GRCh37 Chromosome 5, 179260096: 179260096
23 SQSTM1 NM_003900.4(SQSTM1): c.955G> A (p.Glu319Lys) single nucleotide variant Benign/Likely benign rs61748794 GRCh37 Chromosome 5, 179260232: 179260232
24 SQSTM1 NM_003900.4(SQSTM1): c.955G> A (p.Glu319Lys) single nucleotide variant Benign/Likely benign rs61748794 GRCh38 Chromosome 5, 179833232: 179833232
25 SQSTM1 NM_003900.4(SQSTM1): c.183C> T (p.Gly61=) single nucleotide variant Benign/Likely benign rs767340839 GRCh38 Chromosome 5, 179821119: 179821119
26 SQSTM1 NM_003900.4(SQSTM1): c.183C> T (p.Gly61=) single nucleotide variant Benign/Likely benign rs767340839 GRCh37 Chromosome 5, 179248119: 179248119
27 SQSTM1 NM_003900.4(SQSTM1): c.612A> G (p.Gly204=) single nucleotide variant Conflicting interpretations of pathogenicity rs878982215 GRCh38 Chromosome 5, 179824262: 179824262
28 SQSTM1 NM_003900.4(SQSTM1): c.612A> G (p.Gly204=) single nucleotide variant Conflicting interpretations of pathogenicity rs878982215 GRCh37 Chromosome 5, 179251262: 179251262
29 C9orf72 NM_001256054.2(C9orf72): c.870C> T (p.Ser290=) single nucleotide variant Benign rs10122902 GRCh38 Chromosome 9, 27556782: 27556782
30 C9orf72 NM_001256054.2(C9orf72): c.870C> T (p.Ser290=) single nucleotide variant Benign rs10122902 GRCh37 Chromosome 9, 27556780: 27556780
31 C9orf72 NM_001256054.2(C9orf72): c.620A> G (p.Asn207Ser) single nucleotide variant Likely benign rs17769294 GRCh38 Chromosome 9, 27561630: 27561630
32 C9orf72 NM_001256054.2(C9orf72): c.620A> G (p.Asn207Ser) single nucleotide variant Likely benign rs17769294 GRCh37 Chromosome 9, 27561628: 27561628
33 SQSTM1 NM_003900.4(SQSTM1): c.1230C> T (p.Gly410=) single nucleotide variant Likely benign rs766437927 GRCh37 Chromosome 5, 179263500: 179263500
34 SQSTM1 NM_003900.4(SQSTM1): c.1230C> T (p.Gly410=) single nucleotide variant Likely benign rs766437927 GRCh38 Chromosome 5, 179836500: 179836500
35 SQSTM1 NM_003900.4(SQSTM1): c.46G> A (p.Ala16Thr) single nucleotide variant Uncertain significance rs773552098 GRCh38 Chromosome 5, 179820982: 179820982
36 SQSTM1 NM_003900.4(SQSTM1): c.46G> A (p.Ala16Thr) single nucleotide variant Uncertain significance rs773552098 GRCh37 Chromosome 5, 179247982: 179247982
37 SQSTM1 NM_003900.4(SQSTM1): c.268G> A (p.Val90Met) single nucleotide variant Uncertain significance rs181263868 GRCh37 Chromosome 5, 179250020: 179250020
38 SQSTM1 NM_003900.4(SQSTM1): c.268G> A (p.Val90Met) single nucleotide variant Uncertain significance rs181263868 GRCh38 Chromosome 5, 179823020: 179823020
39 SQSTM1 NM_003900.4(SQSTM1): c.317G> A (p.Arg106Gln) single nucleotide variant Uncertain significance rs778554903 GRCh38 Chromosome 5, 179823873: 179823873
40 SQSTM1 NM_003900.4(SQSTM1): c.317G> A (p.Arg106Gln) single nucleotide variant Uncertain significance rs778554903 GRCh37 Chromosome 5, 179250873: 179250873
41 SQSTM1 NM_003900.4(SQSTM1): c.888G> A (p.Pro296=) single nucleotide variant Benign rs148984239 GRCh38 Chromosome 5, 179833165: 179833165
42 SQSTM1 NM_003900.4(SQSTM1): c.888G> A (p.Pro296=) single nucleotide variant Benign rs148984239 GRCh37 Chromosome 5, 179260165: 179260165
43 SQSTM1 NM_003900.4(SQSTM1): c.1178G> A (p.Arg393Gln) single nucleotide variant Uncertain significance rs200551825 GRCh37 Chromosome 5, 179263448: 179263448
44 SQSTM1 NM_003900.4(SQSTM1): c.1178G> A (p.Arg393Gln) single nucleotide variant Uncertain significance rs200551825 GRCh38 Chromosome 5, 179836448: 179836448
45 SQSTM1 NM_003900.4(SQSTM1): c.332C> T (p.Pro111Leu) single nucleotide variant Uncertain significance rs371719657 GRCh37 Chromosome 5, 179250888: 179250888
46 SQSTM1 NM_003900.4(SQSTM1): c.332C> T (p.Pro111Leu) single nucleotide variant Uncertain significance rs371719657 GRCh38 Chromosome 5, 179823888: 179823888
47 SQSTM1 NM_003900.4(SQSTM1): c.763G> C (p.Val255Leu) single nucleotide variant Uncertain significance rs182522590 GRCh38 Chromosome 5, 179833040: 179833040
48 SQSTM1 NM_003900.4(SQSTM1): c.763G> C (p.Val255Leu) single nucleotide variant Uncertain significance rs182522590 GRCh37 Chromosome 5, 179260040: 179260040
49 SQSTM1 NM_003900.4(SQSTM1): c.800G> A (p.Arg267His) single nucleotide variant Uncertain significance rs149424705 GRCh37 Chromosome 5, 179260077: 179260077
50 SQSTM1 NM_003900.4(SQSTM1): c.800G> A (p.Arg267His) single nucleotide variant Uncertain significance rs149424705 GRCh38 Chromosome 5, 179833077: 179833077

Expression for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Search GEO for disease gene expression data for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1.

Pathways for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

GO Terms for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Cellular components related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.83 C9orf72 CHMP2B GRN SQSTM1 TMEM106B
2 cytoplasmic vesicle GO:0031410 9.8 C9orf72 IFT74 PSEN1 RAB39B SQSTM1 UBQLN2
3 lysosome GO:0005764 9.65 C9orf72 CHMP2B GRN SQSTM1 TMEM106B
4 autophagosome GO:0005776 9.54 C9orf72 SQSTM1 UBQLN2
5 aggresome GO:0016235 9.33 PSEN1 SQSTM1 TBK1
6 guanyl-nucleotide exchange factor complex GO:0032045 9.13 C9orf72 SMCR8 WDR41
7 Atg1/ULK1 kinase complex GO:1990316 8.8 C9orf72 SMCR8 WDR41
8 cytoplasm GO:0005737 10.25 ATXN2 C9orf72 CBS CHMP2B FUS PSEN1

Biological processes related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 macroautophagy GO:0016236 9.61 CHMP2B SQSTM1 VCP
2 T cell activation involved in immune response GO:0002286 9.46 IFNK PSEN1
3 negative regulation of protein phosphorylation GO:0001933 9.43 C9orf72 PSEN1 TARDBP
4 regulation of autophagosome assembly GO:2000785 9.4 C9orf72 UBQLN2
5 stress granule assembly GO:0034063 9.37 ATXN2 C9orf72
6 amyloid-beta metabolic process GO:0050435 9.32 PSEN1 UNC13A
7 autophagy GO:0006914 9.28 C9orf72 CHMP2B PSEN1 RAB39B SMCR8 SQSTM1
8 regulation of autophagy GO:0010506 9.26 C9orf72 RAB39B SMCR8 WDR41
9 regulation of TORC1 signaling GO:1903432 9.16 C9orf72 SMCR8

Molecular functions related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.73 CBS FUS SQSTM1 TARDBP TBK1 VCP
2 protein binding GO:0005515 9.58 ATXN2 C9orf72 CBS CHCHD10 CHMP2B FUS
3 myosin V binding GO:0031489 9.16 FUS RAB39B
4 Rab guanyl-nucleotide exchange factor activity GO:0017112 9.13 C9orf72 SMCR8 WDR41

Sources for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
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42 MedGen
44 MeSH
45 MESH via Orphanet
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50 NCIt
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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