ALS6
MCID: AMY105
MIFTS: 34

Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia (ALS6)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal...

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia:

Name: Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia 57
Amyotrophic Lateral Sclerosis 6, with or Without Frontotemporal Dementia 57 72 29 6
Als6 57 72
Amyotrophic Lateral Sclerosis 6 70

Characteristics:

HPO:

31
amyotrophic lateral sclerosis 6 with or without frontotemporal dementia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 608030
OMIM Phenotypic Series 57 PS105400
MeSH 44 D000690
UMLS 70 C1842675

Summaries for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal...

UniProtKB/Swiss-Prot : 72 Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia: 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 6 with or Without Frontotemporal Dementia, also known as amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, is related to amyotrophic lateral sclerosis type 6 and lateral sclerosis. An important gene associated with Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia is FUS (FUS RNA Binding Protein). Affiliated tissues include spinal cord, brain and endothelial, and related phenotypes are gait disturbance and fasciculations

More information from OMIM: 608030 PS105400

Related Diseases for Amyotrophic Lateral Sclerosis 6 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 12 with or Without Frontotemporal Dementia Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia
Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal Dementia

Diseases related to Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis type 6 32.2 VCP FUS
2 lateral sclerosis 29.6 VCP FUS
3 juvenile amyotrophic lateral sclerosis 11.0
4 amyotrophic lateral sclerosis 5, juvenile 10.1
5 amyotrophic lateral sclerosis 7 10.1
6 amyotrophic lateral sclerosis 1 9.9
7 myopathy 9.9
8 associative agnosia 9.8 VCP FUS
9 frontotemporal dementia 9.8 VCP FUS
10 dementia 9.8 VCP FUS
11 nominal aphasia 9.8 VCP FUS
12 aphasia 9.8 VCP FUS
13 amyotrophic lateral sclerosis type 14 9.8 VCP FUS
14 writing disorder 9.8 VCP FUS
15 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 9.8 VCP FUS
16 alzheimer disease 7 9.8 VCP FUS
17 amyotrophic lateral sclerosis 16, juvenile 9.8 VCP FUS
18 progressive muscular atrophy 9.8 VCP FUS
19 amyotrophic lateral sclerosis 8 9.8 VCP FUS
20 multisystem proteinopathy 9.8 VCP FUS
21 inclusion body myopathy with paget disease of bone and frontotemporal dementia 9.8 VCP FUS
22 supranuclear palsy, progressive, 1 9.8 VCP FUS
23 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.7 VCP FUS
24 dementia, lewy body 9.7 VCP FUS
25 pick disease of brain 9.7 VCP FUS
26 speech and communication disorders 9.7 VCP FUS
27 movement disease 9.7 VCP FUS
28 autosomal dominant cerebellar ataxia 9.6 VCP FUS
29 neuromuscular disease 9.6 VCP FUS
30 motor neuron disease 9.5 VCP FUS

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia:



Diseases related to Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal...

Human phenotypes related to Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 gait disturbance 31 HP:0001288
2 fasciculations 31 HP:0002380
3 hyporeflexia 31 HP:0001265
4 proximal amyotrophy 31 HP:0007126
5 neuronal loss in central nervous system 31 HP:0002529
6 amyotrophic lateral sclerosis 31 HP:0007354

Clinical features from OMIM®:

608030 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.1 FUS
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-3 9.1 FUS
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-57 9.1 FUS
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.1 FUS
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.1 FUS
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.1 FUS

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal...

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia

Genetic Tests for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal...

Genetic tests related to Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis 6, with or Without Frontotemporal Dementia 29 FUS

Anatomical Context for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal...

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia:

40
Spinal Cord, Brain, Endothelial

Publications for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal...

Articles related to Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia:

(show top 50) (show all 64)
# Title Authors PMID Year
1
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. 6 61 57
19251628 2009
2
Nuclear transport impairment of amyotrophic lateral sclerosis-linked mutations in FUS/TLS. 6 57
21280085 2011
3
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. 6 57
20577002 2010
4
Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia. 57 6
20668259 2010
5
Novel missense and truncating mutations in FUS/TLS in familial ALS. 6 57
20660363 2010
6
Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis. 6 57
20385912 2010
7
Mutations of FUS gene in sporadic amyotrophic lateral sclerosis. 57 6
19861302 2010
8
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. 57 6
19251627 2009
9
Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q. 6 57
12840784 2003
10
Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. 57 6
12858291 2003
11
FUS-ALS presenting with myoclonic jerks in a 17-year-old man. 6 61
30879340 2019
12
Amyotrophic Lateral Sclerosis associated FUS mutation shortens mitochondria and induces neurotoxicity. 6
30349096 2018
13
Three VCP Mutations in Patients with Frontotemporal Dementia. 6
30103325 2018
14
De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia. 6
27123482 2016
15
Directly converted patient-specific induced neurons mirror the neuropathology of FUS with disrupted nuclear localization in amyotrophic lateral sclerosis. 6
26795035 2016
16
ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation. 6
26452761 2015
17
ALS mutations in TLS/FUS disrupt target gene expression. 6
26251528 2015
18
De novo FUS mutations in 2 Korean patients with sporadic amyotrophic lateral sclerosis. 6
25457557 2015
19
Cytoplasmic sequestration of FUS/TLS associated with ALS alters histone marks through loss of nuclear protein arginine methyltransferase 1. 6
25274782 2015
20
ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP. 6
25625564 2015
21
Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene. 6
24899262 2014
22
Activity-dependent FUS dysregulation disrupts synaptic homeostasis. 6
25324524 2014
23
Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis. 6
24908169 2014
24
Aggregation of ALS-linked FUS mutant sequesters RNA binding proteins and impairs RNA granules formation. 6
25173930 2014
25
De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case. 6
24439481 2014
26
ALS-associated FUS mutations result in compromised FUS alternative splicing and autoregulation. 6
24204307 2013
27
De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China. 6
23046859 2013
28
Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-Seq. 6
23577159 2013
29
Familial ALS with FUS P525L mutation: two Japanese sisters with multiple systems involvement. 6
22980027 2012
30
Exome sequencing identifies FUS mutations as a cause of essential tremor. 6
22863194 2012
31
FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis. 6
22055719 2012
32
P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis. 6
21907581 2012
33
Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation. 6
21604077 2011
34
Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusions. 6
20579074 2010
35
Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules. 6
20699327 2010
36
ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import. 6
20606625 2010
37
Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update. 57
19924424 2010
38
Mutations in FUS cause FALS and SALS in French and French Canadian populations. 57
19741216 2009
39
Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort. 57
19741215 2009
40
A new familial amyotrophic lateral sclerosis locus on chromosome 16q12.1-16q12.2. 57
12830400 2003
41
New N-(oxazolylmethyl)-thiazolidinedione Active against Candida albicans Biofilm: Potential Als Proteins Inhibitors. 61
30279343 2018
42
A new self-completing questionnaire for motor and non-motorsymptoms in Parkinson's disease (MASAC-PD31). 61
30566311 2017
43
Mutational analysis of FUS gene and its structural and functional role in amyotrophic lateral sclerosis 6. 61
24738488 2015
44
TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update. 61
23559573 2013
45
Localization of fused in sarcoma (FUS) protein to the post-synaptic density in the brain. 61
22526020 2012
46
Frequency and expression of ALS and HWP1 genotypes in Candida albicans strains isolated from Mexican patients suffering from vaginal candidosis. 61
22429754 2012
47
Arginine methylation by PRMT1 regulates nuclear-cytoplasmic localization and toxicity of FUS/TLS harbouring ALS-linked mutations. 61
21965298 2012
48
FUS/TLS gene mutations are the second most frequent cause of familial ALS in the Spanish population. 61
21128870 2011
49
[Gene mutations in familial amyotrophic lateral sclerosis]. 61
21301041 2011
50
[Clinical and pathological characteristics of FUS/TLS-associated amyotrophic lateral sclerosis (ALS)]. 61
21921522 2010

Variations for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal...

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia:

6 (show top 50) (show all 222)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FUS NM_004960.3(FUS):c.1551C>G (p.His517Gln) SNV Pathogenic 16221 rs121909667 GRCh37: 16:31202729-31202729
GRCh38: 16:31191408-31191408
2 FUS NM_004960.3(FUS):c.1561C>G (p.Arg521Gly) SNV Pathogenic 16222 rs121909668 GRCh37: 16:31202739-31202739
GRCh38: 16:31191418-31191418
3 FUS NM_004960.3(FUS):c.1553G>A (p.Arg518Lys) SNV Pathogenic 16223 rs121909669 GRCh37: 16:31202731-31202731
GRCh38: 16:31191410-31191410
4 FUS NM_004960.3(FUS):c.1561C>T (p.Arg521Cys) SNV Pathogenic 16224 rs121909668 GRCh37: 16:31202739-31202739
GRCh38: 16:31191418-31191418
5 FUS NM_004960.3(FUS):c.1562G>A (p.Arg521His) SNV Pathogenic 16225 rs121909671 GRCh37: 16:31202740-31202740
GRCh38: 16:31191419-31191419
6 FUS NM_004960.3(FUS):c.1520G>A (p.Gly507Asp) SNV Pathogenic 16226 rs267606831 GRCh37: 16:31202410-31202410
GRCh38: 16:31191089-31191089
7 FUS NM_004960.3(FUS):c.646C>T (p.Arg216Cys) SNV Pathogenic 16227 rs267606832 GRCh37: 16:31196382-31196382
GRCh38: 16:31185061-31185061
8 FUS NM_004960.3(FUS):c.1570A>T (p.Arg524Trp) SNV Pathogenic 16228 rs267606833 GRCh37: 16:31202748-31202748
GRCh38: 16:31191427-31191427
9 FUS NM_004960.3(FUS):c.1483C>T (p.Arg495Ter) SNV Pathogenic 29707 rs387906627 GRCh37: 16:31202373-31202373
GRCh38: 16:31191052-31191052
10 FUS NM_004960.3(FUS):c.616G>A (p.Gly206Ser) SNV Pathogenic 29708 rs387906628 GRCh37: 16:31196352-31196352
GRCh38: 16:31185031-31185031
11 FUS NM_004960.3(FUS):c.1561C>G (p.Arg521Gly) SNV Pathogenic 16222 rs121909668 GRCh37: 16:31202739-31202739
GRCh38: 16:31191418-31191418
12 FUS NM_001170634.1(FUS):c.1504_1505AG[3] (p.Gly503fs) Microsatellite Pathogenic 665141 rs1596912983 GRCh37: 16:31202396-31202397
GRCh38: 16:31191075-31191076
13 FUS NM_004960.3(FUS):c.1564A>G (p.Arg522Gly) SNV Pathogenic 540279 rs1555509693 GRCh37: 16:31202742-31202742
GRCh38: 16:31191421-31191421
14 FUS NM_004960.4(FUS):c.1394-1G>T SNV Pathogenic 873230 GRCh37: 16:31202283-31202283
GRCh38: 16:31190962-31190962
15 FUS NM_004960.4(FUS):c.1555C>T (p.Gln519Ter) SNV Pathogenic 873231 GRCh37: 16:31202733-31202733
GRCh38: 16:31191412-31191412
16 VCP NM_007126.5(VCP):c.475C>A (p.Arg159Ser) SNV Pathogenic 989439 GRCh37: 9:35065349-35065349
GRCh38: 9:35065352-35065352
17 FUS NM_004960.3(FUS):c.1394-2del Deletion Pathogenic 447355 rs1555509569 GRCh37: 16:31202282-31202282
GRCh38: 16:31190961-31190961
18 FUS NM_004960.4(FUS):c.1509dup (p.Gly504fs) Duplication Pathogenic 933229 GRCh37: 16:31202398-31202399
GRCh38: 16:31191077-31191078
19 FUS NM_004960.3(FUS):c.1574C>T (p.Pro525Leu) SNV Pathogenic 280110 rs886041390 GRCh37: 16:31202752-31202752
GRCh38: 16:31191431-31191431
20 FUS NM_004960.4(FUS):c.1562G>T (p.Arg521Leu) SNV Likely pathogenic 873232 GRCh37: 16:31202740-31202740
GRCh38: 16:31191419-31191419
21 FUS NM_004960.4(FUS):c.1571G>T (p.Arg524Met) SNV Likely pathogenic 873233 GRCh37: 16:31202749-31202749
GRCh38: 16:31191428-31191428
22 FUS NM_004960.4(FUS):c.412_429GGACAGCAGCAAAGCTAT[1] (p.138_143GQQQSY[1]) Microsatellite Likely pathogenic 873229 GRCh37: 16:31195605-31195622
GRCh38: 16:31184284-31184301
23 FUS NM_004960.4(FUS):c.1540A>T (p.Arg514Trp) SNV Likely pathogenic 803253 rs1555509609 GRCh37: 16:31202430-31202430
GRCh38: 16:31191109-31191109
24 FUS NM_004960.4(FUS):c.1542-1G>T SNV Uncertain significance 803254 rs1596914113 GRCh37: 16:31202719-31202719
GRCh38: 16:31191398-31191398
25 FUS NM_004960.3(FUS):c.1111C>T (p.Arg371Cys) SNV Uncertain significance 566220 rs773141319 GRCh37: 16:31201405-31201405
GRCh38: 16:31190084-31190084
26 FUS NM_004960.3(FUS):c.*108C>T SNV Uncertain significance 567482 rs780606789 GRCh37: 16:31202867-31202867
GRCh38: 16:31191546-31191546
27 FUS NC_000016.10:g.(?_31182388)_(31194881_?)dup Duplication Uncertain significance 831798 GRCh37: 16:31193709-31206202
GRCh38:
28 FUS NM_004960.4(FUS):c.182G>A (p.Ser61Asn) SNV Uncertain significance 834592 GRCh37: 16:31193977-31193977
GRCh38: 16:31182656-31182656
29 FUS NM_004960.4(FUS):c.291_292delinsTA (p.Pro98Thr) Indel Uncertain significance 838008 GRCh37: 16:31195279-31195280
GRCh38: 16:31183958-31183959
30 FUS NM_004960.3(FUS):c.1446C>T (p.Gly482=) SNV Uncertain significance 665814 rs112061837 GRCh37: 16:31202336-31202336
GRCh38: 16:31191015-31191015
31 FUS NM_004960.3(FUS):c.673G>A (p.Gly225Ser) SNV Uncertain significance 666021 rs551577399 GRCh37: 16:31196409-31196409
GRCh38: 16:31185088-31185088
32 FUS NM_004960.3(FUS):c.743G>A (p.Arg248His) SNV Uncertain significance 581527 rs760351730 GRCh37: 16:31196479-31196479
GRCh38: 16:31185158-31185158
33 FUS NM_004960.3(FUS):c.685_687GGT[5] (p.Gly230_Gly231dup) Microsatellite Uncertain significance 582491 rs757651881 GRCh37: 16:31196420-31196421
GRCh38: 16:31185099-31185100
34 FUS NM_004960.3(FUS):c.1292C>T (p.Pro431Leu) SNV Uncertain significance 37069 rs186547381 GRCh37: 16:31201719-31201719
GRCh38: 16:31190398-31190398
35 FUS NM_004960.3(FUS):c.688G>T (p.Gly230Cys) SNV Uncertain significance 647759 rs748374535 GRCh37: 16:31196424-31196424
GRCh38: 16:31185103-31185103
36 FUS NM_001170634.1(FUS):c.666_668CGG[8] (p.Gly229_Gly230dup) Microsatellite Uncertain significance 649131 rs72550890 GRCh37: 16:31196402-31196403
GRCh38: 16:31185081-31185082
37 FUS NM_004960.3(FUS):c.-49G>T SNV Uncertain significance 318981 rs200997075 GRCh37: 16:31191487-31191487
GRCh38: 16:31180166-31180166
38 FUS NM_004960.3(FUS):c.1171C>G (p.Pro391Ala) SNV Uncertain significance 540278 rs560450437 GRCh37: 16:31201598-31201598
GRCh38: 16:31190277-31190277
39 FUS NM_004960.3(FUS):c.1564A>G (p.Arg522Gly) SNV Uncertain significance 540279 rs1555509693 GRCh37: 16:31202742-31202742
GRCh38: 16:31191421-31191421
40 FUS NM_004960.4(FUS):c.802C>G (p.Pro268Ala) SNV Uncertain significance 884519 GRCh37: 16:31199648-31199648
GRCh38: 16:31188327-31188327
41 FUS NM_001170634.1(FUS):c.*457A>G SNV Uncertain significance 884584 GRCh37: 16:31203216-31203216
GRCh38: 16:31191895-31191895
42 FUS NM_001170634.1(FUS):c.*1014G>A SNV Uncertain significance 886538 GRCh37: 16:31203773-31203773
GRCh38: 16:31192452-31192452
43 FUS NM_001170634.1(FUS):c.*1034C>T SNV Uncertain significance 886539 GRCh37: 16:31203793-31203793
GRCh38: 16:31192472-31192472
44 FUS NM_001170634.1(FUS):c.*1067G>C SNV Uncertain significance 886540 GRCh37: 16:31203826-31203826
GRCh38: 16:31192505-31192505
45 FUS NM_001170634.1(FUS):c.*1081T>G SNV Uncertain significance 886541 GRCh37: 16:31203840-31203840
GRCh38: 16:31192519-31192519
46 FUS NM_001170634.1(FUS):c.*852A>G SNV Uncertain significance 885516 GRCh37: 16:31203611-31203611
GRCh38: 16:31192290-31192290
47 FUS NM_001170634.1(FUS):c.*953G>T SNV Uncertain significance 885517 GRCh37: 16:31203712-31203712
GRCh38: 16:31192391-31192391
48 FUS NM_001170634.1(FUS):c.*1750C>T SNV Uncertain significance 885584 GRCh37: 16:31204509-31204509
GRCh38: 16:31193188-31193188
49 FUS NM_001170634.1(FUS):c.*1834A>G SNV Uncertain significance 885585 GRCh37: 16:31204593-31204593
GRCh38: 16:31193272-31193272
50 FUS NM_001170634.1(FUS):c.*1851G>A SNV Uncertain significance 885586 GRCh37: 16:31204610-31204610
GRCh38: 16:31193289-31193289

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia:

72 (show all 18)
# Symbol AA change Variation ID SNP ID
1 FUS p.Arg244Cys VAR_054837 rs116509525
2 FUS p.Arg514Gly VAR_054838 rs155550960
3 FUS p.Arg514Ser VAR_054839
4 FUS p.Gly515Cys VAR_054840 rs369757630
5 FUS p.Arg518Lys VAR_054842 rs121909669
6 FUS p.Arg521Cys VAR_054843 rs121909668
7 FUS p.Arg521Gly VAR_054844 rs121909668
8 FUS p.Arg521His VAR_054845 rs121909671
9 FUS p.Arg522Gly VAR_054846 rs155550969
10 FUS p.Arg524Ser VAR_054847 rs886041389
11 FUS p.Arg524Thr VAR_054848 rs544088874
12 FUS p.Pro525Leu VAR_054849 rs886041390
13 FUS p.Gly191Ser VAR_068918 rs148758737
14 FUS p.Arg216Cys VAR_068919 rs267606832
15 FUS p.Gly225Val VAR_068920 rs156747245
16 FUS p.Gly230Cys VAR_068921 rs748374535
17 FUS p.Arg234Cys VAR_068922 rs777819849
18 FUS p.Gly507Asp VAR_068924 rs267606831

Expression for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal...

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia.

Pathways for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal...

GO Terms for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal...

Cellular components related to Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 perinuclear region of cytoplasm GO:0048471 8.62 VCP FUS

Sources for Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal...

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