ALS10
MCID: AMY106
MIFTS: 43

Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia (ALS10)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal...

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia:

Name: Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia 56
Amyotrophic Lateral Sclerosis Type 10 12 52 29 6 15
Amyotrophic Lateral Sclerosis 10 12 52 73 71
Als10 56 12 52 73
Amyotrophic Lateral Sclerosis 10, with or Without Ftd 56 29 13
Frontotemporal Lobar Degeneration, Tardbp-Related 56 29
Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia and with Tdp43 Inclusions 73
Amyotrophic Lateral Sclerosis 10, with or Without Frontotemporal Dementia 12
Tardbp-Related Frontotemporal Lobar Degeneration with Tdp43 Inclusions 12
Sclerosis, Lateral, Amyotrophic, Type Type 10 39

Characteristics:

OMIM:

56
Miscellaneous:
rapidly progressive
variable age at onset (range 25 to 78 years)

Inheritance:
autosomal dominant


HPO:

31
amyotrophic lateral sclerosis 10 with or without frontotemporal dementia:
Inheritance autosomal dominant inheritance
Onset and clinical course rapidly progressive


Classifications:



Summaries for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal...

UniProtKB/Swiss-Prot : 73 Amyotrophic lateral sclerosis 10: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

MalaCards based summary : Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia, also known as amyotrophic lateral sclerosis type 10, is related to juvenile amyotrophic lateral sclerosis and lateral sclerosis. An important gene associated with Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia is TARDBP (TAR DNA Binding Protein). Affiliated tissues include brain, spinal cord and skeletal muscle, and related phenotypes are stereotypy and spasticity

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in the TARDBP gene on chromosome 1.

More information from OMIM: 612069 PS105400

Related Diseases for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal...

Diseases in the Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia family:

Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia
Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia

Diseases related to Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 juvenile amyotrophic lateral sclerosis 31.7 SPG11 SETX FUS ALS2
2 lateral sclerosis 25.0 VAPB UBQLN2 TARDBP SPG11 SOD1 SETX
3 amyotrophic lateral sclerosis 1 24.6 VAPB UBQLN2 TARDBP SPG11 SOD1 SETX
4 distal hereditary motor neuronopathy type 7 10.4 TARDBP ALS2
5 primary lateral sclerosis, adult, 1 10.3 SOD1 ALS2
6 neuronopathy, distal hereditary motor, type viib 10.3 TARDBP ALS2
7 spinal muscular atrophy with lower extremity predominance 10.3 VAPB SETX
8 amyotrophic lateral sclerosis type 22 10.3 TARDBP C9orf72
9 proximal spinal muscular atrophy 10.2 VAPB SETX
10 autosomal recessive distal hereditary motor neuronopathy 10.2 SETX ALS2
11 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 10.2 TARDBP C9orf72
12 agraphia 10.2 TARDBP C9orf72
13 spinal muscular atrophy, distal, autosomal recessive, 4 10.2 SPG11 ALS2
14 pseudobulbar palsy 10.1 TARDBP C9orf72
15 spastic paraplegia 57, autosomal recessive 10.1 SPG11 ALS2
16 pica disease 10.1 TARDBP FUS C9orf72
17 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 10.1 TARDBP SOD1 C9orf72
18 movement disease 10.0 TARDBP FUS C9orf72
19 amyotrophic lateral sclerosis 2, juvenile 10.0 SOD1 ALS2
20 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 10.0 MATR3 C9orf72
21 disease of mental health 9.9 TARDBP RNU4ATAC C9orf72
22 spinal and bulbar muscular atrophy, x-linked 1 9.9 TARDBP SOD1 FUS C9orf72
23 progressive non-fluent aphasia 9.8 CHMP2B C9orf72
24 dyscalculia 9.8 TARDBP CHMP2B
25 frontotemporal dementia, chromosome 3-linked 9.8 TARDBP FUS CHMP2B
26 muscular atrophy 9.8 VAPB TARDBP SETX FUS C9orf72
27 brown-vialetto-van laere syndrome 9.7 UBQLN2 C9orf72
28 spastic paraplegia 4, autosomal dominant 9.7 SPG11 ALS2
29 charcot-marie-tooth disease, axonal, type 2e 9.7 SPG11 SOD1 FIG4 ALS2
30 progressive bulbar palsy 9.7 VAPB SOD1 FUS C9orf72 ALS2
31 semantic dementia 9.7 TARDBP CHMP2B C9orf72
32 dysgraphia 9.7 TARDBP CHMP2B C9orf72
33 writing disorder 9.7 TARDBP CHMP2B C9orf72
34 autosomal dominant cerebellar ataxia 9.7 TARDBP SOD1 SETX FUS C9orf72
35 amyotrophic lateral sclerosis type 5 9.7 VAPB SPG11 SOD1 SETX ALS2
36 perry syndrome 9.7 TARDBP CHMP2B C9orf72
37 peripheral nervous system disease 9.6 SOD1 SETX RNU4ATAC OPTN FIG4
38 neuromuscular disease 9.6 SOD1 FUS FIG4 C9orf72 ALS2
39 mutism 9.6 CHMP2B C9orf72
40 associative agnosia 9.5 TARDBP FUS CHMP2B C9orf72
41 nominal aphasia 9.5 TARDBP FUS CHMP2B C9orf72
42 spinal muscular atrophy 9.5 VAPB TARDBP SOD1 SETX FUS C9orf72
43 amyotrophic lateral sclerosis 20 9.5 VAPB SPG11 SOD1 MATR3 ALS2
44 speech and communication disorders 9.5 TARDBP FUS CHMP2B C9orf72
45 amyotrophic lateral sclerosis 19 9.4 UBQLN2 TARDBP SOD1 MATR3 ALS2
46 amyotrophic lateral sclerosis 21 9.3 VAPB SPG11 SETX MATR3 FUS ALS2
47 supranuclear palsy, progressive, 1 9.3 TARDBP SOD1 FUS CHMP2B C9orf72
48 dementia, lewy body 9.3 TARDBP SOD1 FUS CHMP2B C9orf72
49 hereditary spastic paraplegia 9.2 UBQLN2 SPG11 SETX C9orf72 ALS2
50 aphasia 9.2 TARDBP OPTN FUS CHMP2B C9orf72

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia:



Diseases related to Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal...

Human phenotypes related to Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 stereotypy 31 HP:0000733
2 spasticity 31 HP:0001257
3 dysphagia 31 HP:0002015
4 respiratory insufficiency due to muscle weakness 31 HP:0002747
5 skeletal muscle atrophy 31 HP:0003202
6 dysarthria 31 HP:0001260
7 babinski sign 31 HP:0003487
8 emotional lability 31 HP:0000712
9 disinhibition 31 HP:0000734
10 apathy 31 HP:0000741
11 amyotrophic lateral sclerosis 31 HP:0007354
12 frontotemporal dementia 31 HP:0002145
13 perseveration 31 HP:0030223

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
muscle weakness
muscle atrophy
muscle biopsy shows chronic and active denervation

Abdomen Gastrointestinal:
dysphagia

Neurologic Behavioral Psychiatric Manifestations:
emotional lability
disinhibition
apathy
perseverative behavior

Head And Neck Mouth:
tongue hypotrophy

Neurologic Central Nervous System:
spasticity
dysarthria
pyramidal signs
extensor plantar responses
upper and lower motor neuron disease
more
Respiratory:
respiratory insufficiency due to muscle weakness

Head And Neck Face:
bulbar symptoms

Clinical features from OMIM:

612069

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal...

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia

Genetic Tests for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal...

Genetic tests related to Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis Type 10 29 TARDBP
2 Amyotrophic Lateral Sclerosis 10, with or Without Ftd 29
3 Frontotemporal Lobar Degeneration, Tardbp-Related 29

Anatomical Context for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal...

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia:

40
Brain, Spinal Cord, Skeletal Muscle, Tongue

Publications for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal...

Articles related to Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia:

(show all 24)
# Title Authors PMID Year
1
Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease. 6 56
24300238 2014
2
Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene. 6 56
21220647 2011
3
Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations. 6 56
20697052 2010
4
TARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy. 6 56
19618195 2009
5
TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea. 56 6
19609911 2009
6
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. 6 56
19350673 2009
7
High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. 56 6
19224587 2009
8
Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations. 6 56
18779421 2008
9
TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. 6 56
18396105 2008
10
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. 56 6
18372902 2008
11
TDP-43 mutation in familial amyotrophic lateral sclerosis. 56 6
18438952 2008
12
TDP-43 A315T mutation in familial motor neuron disease. 56 6
18288693 2008
13
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. 56 6
18309045 2008
14
Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations. 56
22539580 2012
15
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 6
21914052 2012
16
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. 56
20577002 2010
17
TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration. 56
19833869 2009
18
Genetic variants in the promoter of TARDBP in sporadic amyotrophic lateral sclerosis. 6
19695877 2009
19
TARDBP-Related Amyotrophic Lateral Sclerosis 6
20301761 2009
20
Familial amyotrophic lateral sclerosis: a SOD1-unrelated Japanese family of bulbar type with Bunina bodies and ubiquitin-positive skein-like inclusions in lower motor neurons. 56
17036243 2007
21
Amyotrophic Lateral Sclerosis Overview 6
20301623 2001
22
[Gene mutations in familial amyotrophic lateral sclerosis]. 61
21301041 2011
23
TDP-43 physically interacts with amyotrophic lateral sclerosis-linked mutant CuZn superoxide dismutase. 61
20933032 2010
24
Recent advances in the genetics of amyotrophic lateral sclerosis. 61
19348708 2009

Variations for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal...

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia:

6 (show top 50) (show all 94) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TARDBP NM_007375.3(TARDBP):c.1009A>G (p.Met337Val)SNV Pathogenic 5228 rs80356730 1:11082475-11082475 1:11022418-11022418
2 TARDBP NM_007375.3(TARDBP):c.991C>A (p.Gln331Lys)SNV Pathogenic 5229 rs80356727 1:11082457-11082457 1:11022400-11022400
3 TARDBP NM_007375.3(TARDBP):c.881G>C (p.Gly294Ala)SNV Pathogenic 5230 rs80356721 1:11082347-11082347 1:11022290-11022290
4 TARDBP NM_007375.3(TARDBP):c.892G>A (p.Gly298Ser)SNV Pathogenic 5232 rs4884357 1:11082358-11082358 1:11022301-11022301
5 TARDBP NM_007375.3(TARDBP):c.1028A>G (p.Gln343Arg)SNV Pathogenic 5235 rs80356731 1:11082494-11082494 1:11022437-11022437
6 TARDBP NM_007375.3(TARDBP):c.943G>A (p.Ala315Thr)SNV Pathogenic 5236 rs80356726 1:11082409-11082409 1:11022352-11022352
7 TARDBP NM_007375.3(TARDBP):c.*83T>CSNV Pathogenic 21465 rs80356744 1:11082794-11082794 1:11022737-11022737
8 TARDBP NM_007375.3(TARDBP):c.1055A>G (p.Asn352Ser)SNV Pathogenic 21468 rs80356734 1:11082521-11082521 1:11022464-11022464
9 TARDBP NM_007375.3(TARDBP):c.800A>G (p.Asn267Ser)SNV Pathogenic 21482 rs80356718 1:11082266-11082266 1:11022209-11022209
10 TARDBP NM_007375.3(TARDBP):c.881G>T (p.Gly294Val)SNV Pathogenic 21484 rs80356721 1:11082347-11082347 1:11022290-11022290
11 TARDBP NM_007375.3(TARDBP):c.883G>A (p.Gly295Ser)SNV Pathogenic 21485 rs80356723 1:11082349-11082349 1:11022292-11022292
12 TARDBP NM_007375.3(TARDBP):c.1153T>G (p.Trp385Gly)SNV Pathogenic 190400 rs797044595 1:11082619-11082619 1:11022562-11022562
13 TARDBP NM_007375.3(TARDBP):c.1147A>G (p.Ile383Val)SNV Pathogenic/Likely pathogenic 21476 rs80356740 1:11082613-11082613 1:11022556-11022556
14 TARDBP NM_007375.3(TARDBP):c.1042G>T (p.Gly348Cys)SNV Pathogenic/Likely pathogenic 5234 rs80356733 1:11082508-11082508 1:11022451-11022451
15 TARDBP NM_007375.3(TARDBP):c.1144G>A (p.Ala382Thr)SNV Likely pathogenic 21474 rs367543041 1:11082610-11082610 1:11022553-11022553
16 TARDBP NM_007375.4(TARDBP):c.893G>T (p.Gly298Val)SNV Likely pathogenic 873205 1:11082359-11082359 1:11022302-11022302
17 TARDBP NM_007375.4(TARDBP):c.1060C>G (p.Gln354Glu)SNV Likely pathogenic 873228 1:11082526-11082526 1:11022469-11022469
18 TARDBP NM_007375.3(TARDBP):c.669C>G (p.Pro223=)SNV Conflicting interpretations of pathogenicity 586811 rs149517613 1:11080611-11080611 1:11020554-11020554
19 TARDBP NM_007375.3(TARDBP):c.506A>G (p.Asp169Gly)SNV Conflicting interpretations of pathogenicity 5233 rs80356717 1:11078893-11078893 1:11018836-11018836
20 TARDBP NM_007375.3(TARDBP):c.859G>A (p.Gly287Ser)SNV Conflicting interpretations of pathogenicity 21483 rs80356719 1:11082325-11082325 1:11022268-11022268
21 TARDBP NM_007375.3(TARDBP):c.239-15G>ASNV Conflicting interpretations of pathogenicity 291736 rs200066188 1:11076886-11076886 1:11016829-11016829
22 TARDBP NM_007375.3(TARDBP):c.-110C>TSNV Conflicting interpretations of pathogenicity 291730 rs577981181 1:11072703-11072703 1:11012646-11012646
23 TARDBP NM_007375.3(TARDBP):c.720G>A (p.Ala240=)SNV Conflicting interpretations of pathogenicity 291739 rs765175133 1:11082186-11082186 1:11022129-11022129
24 TARDBP NM_007375.3(TARDBP):c.*1623T>ASNV Conflicting interpretations of pathogenicity 291756 rs566657331 1:11084334-11084334 1:11024277-11024277
25 TARDBP NM_007375.3(TARDBP):c.*2046T>GSNV Uncertain significance 291760 rs886045047 1:11084757-11084757 1:11024700-11024700
26 TARDBP NM_007375.3(TARDBP):c.*129T>CSNV Uncertain significance 291741 rs886045036 1:11082840-11082840 1:11022783-11022783
27 TARDBP NM_007375.3(TARDBP):c.*2005T>CSNV Uncertain significance 291758 rs886045045 1:11084716-11084716 1:11024659-11024659
28 TARDBP NM_007375.3(TARDBP):c.*2154G>TSNV Uncertain significance 291761 rs886045048 1:11084865-11084865 1:11024808-11024808
29 TARDBP NM_007375.3(TARDBP):c.*2334G>ASNV Uncertain significance 291765 rs182302907 1:11085045-11085045 1:11024988-11024988
30 TARDBP NM_007375.3(TARDBP):c.*2360C>TSNV Uncertain significance 291766 rs886045049 1:11085071-11085071 1:11025014-11025014
31 TARDBP NM_007375.3(TARDBP):c.-117G>ASNV Uncertain significance 291729 rs886045031 1:11072696-11072696 1:11012639-11012639
32 TARDBP NM_007375.3(TARDBP):c.-42C>TSNV Uncertain significance 291732 rs886045033 1:11072771-11072771 1:11012714-11012714
33 TARDBP NM_007375.3(TARDBP):c.499A>G (p.Met167Val)SNV Uncertain significance 291737 rs886045035 1:11078886-11078886 1:11018829-11018829
34 TARDBP NM_007375.3(TARDBP):c.*159A>CSNV Uncertain significance 291742 rs886045037 1:11082870-11082870 1:11022813-11022813
35 TARDBP NM_007375.3(TARDBP):c.*666G>ASNV Uncertain significance 291746 rs778834503 1:11083377-11083377 1:11023320-11023320
36 TARDBP NM_007375.3(TARDBP):c.*842G>ASNV Uncertain significance 291747 rs886045039 1:11083553-11083553 1:11023496-11023496
37 TARDBP NM_007375.3(TARDBP):c.*2773A>GSNV Uncertain significance 291770 rs187380325 1:11085484-11085484 1:11025427-11025427
38 TARDBP NM_007375.3(TARDBP):c.*1084A>TSNV Uncertain significance 291752 rs886045041 1:11083795-11083795 1:11023738-11023738
39 TARDBP NM_007375.3(TARDBP):c.-126G>TSNV Uncertain significance 291727 rs886045030 1:11072687-11072687 1:11012630-11012630
40 TARDBP NM_007375.3(TARDBP):c.*862G>TSNV Uncertain significance 291748 rs886045040 1:11083573-11083573 1:11023516-11023516
41 TARDBP NM_007375.3(TARDBP):c.*963C>TSNV Uncertain significance 291749 rs751628760 1:11083674-11083674 1:11023617-11023617
42 TARDBP NM_007375.3(TARDBP):c.*1622A>TSNV Uncertain significance 291754 rs551513393 1:11084333-11084333 1:11024276-11024276
43 TARDBP NM_007375.3(TARDBP):c.*2029C>TSNV Uncertain significance 291759 rs886045046 1:11084740-11084740 1:11024683-11024683
44 TARDBP NM_007375.3(TARDBP):c.*2252A>GSNV Uncertain significance 291762 rs552057039 1:11084963-11084963 1:11024906-11024906
45 TARDBP NM_007375.3(TARDBP):c.*214T>CSNV Uncertain significance 291744 rs557787340 1:11082925-11082925 1:11022868-11022868
46 TARDBP NM_007375.3(TARDBP):c.*1795A>GSNV Uncertain significance 291757 rs886045044 1:11084506-11084506 1:11024449-11024449
47 TARDBP NM_007375.3(TARDBP):c.*2750G>ASNV Uncertain significance 291769 rs779882516 1:11085461-11085461 1:11025404-11025404
48 TARDBP NM_007375.3(TARDBP):c.-77G>ASNV Uncertain significance 291731 rs886045032 1:11072736-11072736 1:11012679-11012679
49 TARDBP NM_007375.3(TARDBP):c.269C>T (p.Ala90Val)SNV Uncertain significance 21481 rs80356715 1:11076931-11076931 1:11016874-11016874
50 TARDBP NM_007375.3(TARDBP):c.931A>G (p.Met311Val)SNV Uncertain significance 21487 rs80356725 1:11082397-11082397 1:11022340-11022340

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia:

73 (show all 25)
# Symbol AA change Variation ID SNP ID
1 TARDBP p.Asp169Gly VAR_045657 rs80356717
2 TARDBP p.Gly287Ser VAR_045658 rs80356719
3 TARDBP p.Gly290Ala VAR_045659 rs121908395
4 TARDBP p.Gly294Ala VAR_045660 rs80356721
5 TARDBP p.Gly298Ser VAR_045661 rs4884357
6 TARDBP p.Ala315Thr VAR_045662 rs80356726
7 TARDBP p.Gln331Lys VAR_045663 rs80356727
8 TARDBP p.Met337Val VAR_045664 rs80356730
9 TARDBP p.Gly348Cys VAR_045665 rs80356733
10 TARDBP p.Arg361Ser VAR_045666 rs80356735
11 TARDBP p.Ala382Thr VAR_045667 rs367543041
12 TARDBP p.Asn390Asp VAR_045668 rs80356741
13 TARDBP p.Asn390Ser VAR_045669 rs80356742
14 TARDBP p.Asn267Ser VAR_058611 rs80356718
15 TARDBP p.Gly294Val VAR_058612 rs80356721
16 TARDBP p.Gly295Arg VAR_058613 rs80356723
17 TARDBP p.Gly295Ser VAR_058614 rs80356723
18 TARDBP p.Ser332Asn VAR_058615 rs80356728
19 TARDBP p.Gly335Asp VAR_058616 rs80356729
20 TARDBP p.Ser379Cys VAR_058617 rs80356739
21 TARDBP p.Ser379Pro VAR_058618 rs80356738
22 TARDBP p.Ser393Leu VAR_058619 rs80356743
23 TARDBP p.Gln343Arg VAR_062767 rs80356731
24 TARDBP p.Gly357Arg VAR_067499
25 TARDBP p.Arg361Thr VAR_067500

Expression for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal...

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia.

Pathways for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal...

GO Terms for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal...

Cellular components related to Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.67 SPG11 FUS C9orf72 ALS2
2 neuronal cell body GO:0043025 9.62 SOD1 FUS ANG ALS2
3 axon GO:0030424 9.56 SPG11 SETX C9orf72 ALS2
4 cytoplasmic vesicle GO:0031410 9.43 UBQLN2 SPG11 SOD1 OPTN C9orf72 ANG
5 autophagosome GO:0005776 9.33 UBQLN2 OPTN C9orf72
6 growth cone GO:0030426 8.92 SETX C9orf72 ANG ALS2

Biological processes related to Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gene expression GO:0010467 9.32 TARDBP FUS
2 axon extension GO:0048675 9.26 SPG11 C9orf72
3 regulation of autophagosome assembly GO:2000785 9.16 UBQLN2 C9orf72
4 locomotory behavior GO:0007626 9.13 SOD1 FIG4 ALS2
5 autophagy GO:0006914 8.92 UBQLN2 OPTN CHMP2B C9orf72

Molecular functions related to Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Rab guanyl-nucleotide exchange factor activity GO:0017112 9.26 C9orf72 ALS2
2 identical protein binding GO:0042802 9.17 TARDBP SOD1 SETX OPTN MATR3 FUS
3 polyubiquitin modification-dependent protein binding GO:0031593 9.16 UBQLN2 OPTN
4 Rab GTPase binding GO:0017137 9.13 OPTN C9orf72 ALS2

Sources for Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
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48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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