ALS
MCID: AMY001
MIFTS: 87

Amyotrophic Lateral Sclerosis (ALS) malady

Neuronal, Genetic categories

Summaries for Amyotrophic Lateral Sclerosis

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 3CDC, 44NINDS, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

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NIH Rare Diseases:43 Amyotrophic lateral sclerosis (als), also referred to as "lou gehrig's disease," is a progressive motor neuron disease which leads to problems with muscle control and movement. there are various types of als, which are distinguished by their signs and symptoms and their cause. early symptoms may include muscle twitching, cramping, stiffness, or weakness, eventually followed by slurred speech and difficulty chewing or swallowing (dysphagia). as the disease progresses, individuals become weaker are are eventually wheelchair-dependent. death often results from respiratory failure within 2 to 10 years after the onset of symptoms. most affected individuals have a sporadic (not inherited) form of als; about 5-10% have a familial (inherited) form of the condition. familial als may caused by mutations in any one of several genes and the pattern of inheritance varies depending on the gene involved. treatment is generally supportive. last updated: 1/7/2013

MalaCards: Amyotrophic Lateral Sclerosis, also known as ALS, is related to lateral sclerosis and frontotemporal dementia. An important gene associated with Amyotrophic Lateral Sclerosis is SOD1 (superoxide dismutase 1, soluble), and among its related pathways are Pathogenesis of ALS and Cytoskeleton remodeling Neurofilaments. The drug riluzole and the compounds superoxide and phenol have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and tongue, and related mouse phenotypes are behavior/neurological and cellular.

Genetics Home Reference:21 Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that are important for controlling muscle movement and strength. These nerve cells are found in the spinal cord and the brain. In ALS, motor neurons die over time, leading to problems with muscle control and movement.

MedlinePlus:34 Amyotrophic lateral sclerosis (als) is a nervous system disease that attacks nerve cells called neurons in your brain and spinal cord. these neurons transmit messages from your brain and spinal cord to your voluntary muscles - the ones you can control, like in your arms and legs. at first, this causes mild muscle problems. some people notice trouble walking or running trouble writing speech problems eventually, you lose your strength and cannot move. when muscles in your chest fail, you cannot breathe. a breathing machine can help, but most people with als die from respiratory failure. the disease usually strikes between age 40 and 60. more men than women get it. no one knows what causes als. it can run in families, but usually it strikes at random. there is no cure. medicines can relieve symptoms and, sometimes, prolong survival. nih: national institute of neurological disorders and stroke

CDC:3 Amyotrophic lateral sclerosis (ALS), sometimes called Lou Gehrig's disease, is a progressive disease that attacks the nerve cells that control voluntary movement. The National ALS Registry is a congressionally mandated registry for persons in the U.S. with ALS. It is the only population-based registry in the U.S. that collects information to help scientists learn more about who gets ALS and its causes. No one knows for sure what causes ALS and currently there is no cure. If you have the disease, consider joining the Registry and completing the brief risk-factor surveys because your answers could help scientists defeat ALS.

NINDS:44 Amyotrophic lateral sclerosis (ALS), sometimes called Lou Gehrig's disease or classical motor neuron disease, is a rapidly progressive, invariably fatal neurological disease that attacks the nerve cells responsible for controlling voluntary muscles.

Wikipedia:64 Amyotrophic lateral sclerosis (ALS) – also referred to as motor neurone disease (MND) in most... more...

Description from OMIM:47 608627, 602433, 608030, 205100, 611895 613435, 612577, 612069, 105400, 205250, 300857, 606640, 608031, 613954, 614696, 614808, 615515, 615426 more

GeneReviews summary for als-overview

Aliases & Classifications for Amyotrophic Lateral Sclerosis

Sources:
8Disease Ontology, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 34MedlinePlus, 31LifeMap Discovery™, 61UMLS, 27ICD9CM, 40NCIt, 35MeSH, 57SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
amyotrophic lateral sclerosis:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Adult


Aliases & Descriptions:

amyotrophic lateral sclerosis 8 64 19 43 20 22 21 44 47 10 45 49 34 31 61
als 8 64 43 21 49
lou gehrig's disease 8 19 44
lou gehrig disease 64 43 21
charcot disease 64 21 49
motor neuron disease, amyotrophic lateral sclerosis 64 21
amyotrophic lateral sclerosis type 1 43 22
amyotrophic lateral sclerosis 1 47 61
amyotrophic lateral sclerosis with dementia 21
dementia with amyotrophic lateral sclerosis 21
familial amyotrophic lateral sclerosis 64
motor neuron disease, bulbar 8
lou-gehrig disease 49
fals 64
als1 43


External Ids:

Disease Ontology8 DOID:332
ICD9CM27 335.20
NCIt40 C34373
MeSH35 D000690
SNOMED-CT57 86044005
MESH via Orphanet36 D000690
ICD10 via Orphanet26 G12.2
SNOMED-CT via Orphanet58 86044005
UMLS via Orphanet62 C0002736
ICD1025 F02, F03, F00.9

Related Diseases for Amyotrophic Lateral Sclerosis

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Amyotrophic Lateral Sclerosis family:

amyotrophic lateral sclerosis type 8 amyotrophic lateral sclerosis, type 4
amyotrophic lateral sclerosis type 2 amyotrophic lateral sclerosis type 10
amyotrophic lateral sclerosis type 11 amyotrophic lateral sclerosis type 3
amyotrophic lateral sclerosis type 5 amyotrophic lateral sclerosis type 6
amyotrophic lateral sclerosis type 7 amyotrophic lateral sclerosis type 9
amyotrophic lateral sclerosis with frontotemporal dementia amyotrophic lateral sclerosis 10, with or without ftd
amyotrophic lateral sclerosis 2, juvenile amyotrophic lateral sclerosis 19
amyotrophic lateral sclerosis 17 amyotrophic lateral sclerosis 16, juvenile
amyotrophic lateral sclerosis 14, with or without frontotemporal dementia amyotrophic lateral sclerosis 4, juvenile
amyotrophic lateral sclerosis 12 amyotrophic lateral sclerosis 20
amyotrophic lateral sclerosis 13 amyotrophic lateral sclerosis 5, juvenile recessive
amyotrophic lateral sclerosis 18 amyotrophic lateral sclerosis 15, with or without frontotemporal dementia

Diseases related to Amyotrophic Lateral Sclerosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 2558)
idRelated DiseaseScoreTop Affiliating Genes
1lateral sclerosis32.7TARDBP
2frontotemporal dementia31.6FUS, VCP, UBQLN2, C9orf72, TARDBP, CHMP2B
3parkinson's disease31.2PON1, SQSTM1, VCP, SOD1
4alzheimer's disease31.1VCP, SOD1, SQSTM1, NEFH, PON1, TARDBP
5pick's disease30.8SQSTM1, TARDBP
6huntington's disease30.7DCTN1
7aphasia30.5C9orf72, TARDBP, FUS
8paget's disease of bone29.3SQSTM1, VCP
9amyotrophic lateral sclerosis-parkinsonism/dementia complex10.9
10muscular atrophy10.8
11amyotrophic lateral sclerosis type 210.8
12amyotrophic lateral sclerosis 2010.7
13amyotrophic lateral sclerosis, type 410.7
14spinal muscular atrophy10.7
15progressive muscular atrophy10.7
16amyotrophic lateral sclerosis 1910.7
17amyotrophic lateral sclerosis type 810.6
18hyperlipidemia type 310.6
19werdnig-hoffmann disease10.6
20amyotrophic lateral sclerosis with frontotemporal dementia10.6
21sod1-related amyotrophic lateral sclerosis10.6
22werdnig-hoffman disease10.6
23amyotrophic lateral sclerosis type 1110.6
24amyotrophic lateral sclerosis type 910.6
25amyotrophic lateral sclerosis type 310.5
26amyotrophic lateral sclerosis type 710.5
27multifocal motor neuropathy10.5
28dysphagia10.5
29amyotrophic lateral sclerosis 2, juvenile10.5
30n syndrome10.5
31spinal cord disease10.5
32tauopathy10.5
33tardbp-related amyotrophic lateral sclerosis10.5
34amyotrophic lateral sclerosis type 1010.5
35vapb-related amyotrophic lateral sclerosis10.5
36hypoxia10.5
37spasticity10.5
38amyotrophic lateral sclerosis 1210.5
39anosognosia10.4
40hereditary spastic paraplegia10.4
41progressive supranuclear palsy10.4
42anterior horn cell disease10.4
43amyotrophic lateral sclerosis type 510.4
44amyotrophic lateral sclerosis type 610.4
45amyotrophic lateral sclerosis-parkinsonism/dementia complex 110.4
46spastic paraparesis10.4
47autosomal recessive juvenile amyotrophic lateral sclerosis10.4
48setx-related amyotrophic lateral sclerosis10.4
49fus-related amyotrophic lateral sclerosis10.4
50optn-related amyotrophic lateral sclerosis10.4

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis:



Diseases related to amyotrophic lateral sclerosis

Clinical Features for Amyotrophic Lateral Sclerosis

Sources:
47OMIM
See all sources

Clinical features from OMIM:

608627, 602433, 608030, 205100, 611895, 613435, 612577, 612069, 105400, 205250 300857, 606640, 608031, 613954, 614696, 614808, 615515, 615426 more

Clinical synopsis from OMIM:

105400

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Amyotrophic Lateral Sclerosis

Drug clinical trials:

Search ClinicalTrials for Amyotrophic Lateral Sclerosis

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis

Search CenterWatch for Amyotrophic Lateral Sclerosis

Inferred drug relations via UMLS61/NDF-RT41:

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Amyotrophic Lateral Sclerosis cell therapies at LifeMap Discovery.

Genetic Tests for Amyotrophic Lateral Sclerosis

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Amyotrophic Lateral Sclerosis:

id Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis20 22 VCP
2 Amyotrophic Lateral Sclerosis Multi-gene Panels20
3 Amyotrophic Lateral Sclerosis Type 122

Anatomical Context for Amyotrophic Lateral Sclerosis

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis:

33
Skin, Liver, Tongue, Spinal cord, Brain, Bone marrow, Whole blood, Cortex, Cerebellum, Smooth muscle, Skeletal muscle, Small intestine, Salivary gland, Breast, Prostate, Monocytes, T cells, B cells, Endothelial, Prefrontal cortex, Temporal lobe, Ciliary ganglion, Amygdala, Dorsal root ganglion, Pituitary

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Amyotrophic Lateral Sclerosis:
id TissueAnatomical CompartmentCell Relevance
1 BoneBone MarrowBone Marrow Stromal Cells Potential therapeutic candidate
2 LimbPelvic GirdleBone Marrow Stromal Cells Potential therapeutic candidate
3 AdiposeSubcutaneous White AdiposeMesenchymal Stem Cells Potential therapeutic candidate
4 Neural TubeMotor Neural Progenitor DomainMotor Neural Progenitor Cells Potential therapeutic candidate
5 Neural TubeMotor Neural Progenitor DomainMotor Neurons Potential therapeutic candidate, affected by disease
6 BrainForebrain White MatterMyelinating Oligodendrocyte Cells Affected by disease
7 Spinal CordSpinal Cord White MatterMyelinating Oligodendrocyte Cells Affected by disease
8 AdiposeSubcutaneous White AdiposeStromal Cells Potential therapeutic candidate

Animal Models for Amyotrophic Lateral Sclerosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538612.0FIG4, SQSTM1, NEFH, DCTN1, PFN1, VAPB
2MP:000538411.8VCP, TARDBP, PFN1, PON1, DCTN1, NEFH
3MP:000363111.6SQSTM1, NEFH, PRPH, FUS, DCTN1, FIG4

Publications for Amyotrophic Lateral Sclerosis

Sources:
51PubMed
See all sources

Articles related to Amyotrophic Lateral Sclerosis:

(show top 50)    (show all 1842)
idTitleAuthorsYear
1
Advances in Cellular Models to Explore the Pathophysiology of Amyotrophic Lateral Sclerosis. (24198229)
2013
2
Underlying cause and place of death among patients with amyotrophic lateral sclerosis in Taiwan: a population-based study, 2003-2008. (23933623)
2013
3
Macroglossia in amyotrophic lateral sclerosis. (24042440)
2013
4
Health-related quality of life in patients with amyotrophic lateral sclerosis. (23601755)
2013
5
Systemic treatment with adipose-derived mesenchymal stem cells ameliorates clinical and pathological features in the amyotrophic lateral sclerosis murine model. (23727509)
2013
6
Utility of transcranial magnetic stimulation in delineating amyotrophic lateral sclerosis pathophysiology. (24112924)
2013
7
Spinal cord atrophy correlates with disease duration and severity in amyotrophic lateral sclerosis. (24219347)
2013
8
Human marrow stromal cells reduce microglial activation to protect motor neurons in a transgenic mouse model of amyotrophic lateral sclerosis. (23631660)
2013
9
Amyotrophic lateral sclerosis mimic syndrome due to neurosyphilis. (23020664)
2013
10
Immunoglobulins G from patients with sporadic amyotrophic lateral sclerosis affects cytosolic Ca2+ homeostasis in cultured rat astrocytes. (23623373)
2013
11
Progressive hemiparesis (Mills syndrome) with aphasia in amyotrophic lateral sclerosis. (24363135)
2013
12
Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis. (23635659)
2013
13
UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study. (22921269)
2013
14
Modelling C9ORF72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis and frontotemporal dementia. (24366528)
2013
15
Serum anti-neuronal antibodies in amyotrophic lateral sclerosis. (23461588)
2013
16
Loss of function of C9orf72 causes motor deficits in a zebrafish model of Amyotrophic Lateral Sclerosis. (23720273)
2013
17
Imaging findings associated with cognitive performance in primary lateral sclerosis and amyotrophic lateral sclerosis. (24052798)
2013
18
Galactooligosaccharide improves the animal survival and alleviates motor neuron death in SOD1G93A mouse model of amyotrophic lateral sclerosis. (23673277)
2013
19
TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update. (23559573)
2013
20
Ethical considerations in the management of amyotrophic lateral sclerosis. (23735671)
2013
21
Origin of Fasciculations in Amyotrophic Lateral Sclerosis and Benign Fasciculation Syndrome. (24145758)
2013
22
Specific Induction of Akt3 in Spinal Cord Motor Neurons is Neuroprotective in a Mouse Model of Familial Amyotrophic Lateral Sclerosis. (23873136)
2013
23
Differentiation of CD133+ stem cells from amyotrophic lateral sclerosis patients into preneuron cells. (23341441)
2013
24
Elevated levels of IFNI^ and LIGHT in the spinal cord of patients with sporadic amyotrophic lateral sclerosis. (22221541)
2012
25
Mitochondrial complex I deficiency and ATP/ADP ratio in lymphocytes of amyotrophic lateral sclerosis patients. (22450425)
2012
26
Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND). (22419278)
2012
27
A miRNA signature in leukocytes from sporadic amyotrophic lateral sclerosis. (22903028)
2012
28
Founder effect hypothesis of D11Y SOD1 mutation in Italian amyotrophic lateral sclerosis patients. (22292847)
2012
29
Misfolded superoxide dismutase-1 in CSF from amyotrophic lateral sclerosis patients. (21226712)
2011
30
FUS mutations in sporadic amyotrophic lateral sclerosis. (20138404)
2011
31
Increased RNA editing in EAAT2 pre-mRNA from amyotrophic lateral sclerosis patients: involvement of a cryptic polyadenylation site. (21569822)
2011
32
Soluble beta-amyloid precursor protein is related to disease progression in amyotrophic lateral sclerosis. (21858182)
2011
33
Appearance of phagocytic microglia adjacent to motoneurons in spinal cord tissue from a presymptomatic transgenic rat model of amyotrophic lateral sclerosis. (20648658)
2010
34
Inclusion body myositis masquerading as amyotrophic lateral sclerosis. (21059520)
2010
35
Oxidative stress in skeletal muscle stimulates early expression of Rad in a mouse model of amyotrophic lateral sclerosis. (20079427)
2010
36
Meta-analysis of vascular endothelial growth factor variations in amyotrophic lateral sclerosis: increased susceptibility in male carriers of the -2578AA genotype. (18413368)
2009
37
Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis. (19363631)
2009
38
Transduction of familial amyotrophic lateral sclerosis-related mutant PEP-1-SOD proteins into neuronal cells. (18319614)
2008
39
The patulous eustachian tube complicated with amyotrophic lateral sclerosis: a video clip demonstration. (18695625)
2008
40
Posttranslational modifications in Cu,Zn-superoxide dismutase and mutations associated with amyotrophic lateral sclerosis. (16771675)
2006
41
Diffusion-tensor MR imaging of corticospinal tract in amyotrophic lateral sclerosis and progressive muscular atrophy. (16183935)
2005
42
Activation of a glycine transporter on spinal cord neurons causes enhanced glutamate release in a mouse model of amyotrophic lateral sclerosis. (12684256)
2003
43
Glial cell line-derived neurotrophic factor protein prevents motor neuron loss of transgenic model mice for amyotrophic lateral sclerosis. (12635522)
2003
44
Apolipoprotein E genotyping in sporadic amyotrophic lateral sclerosis: evidence for a major influence on the clinical presentation and prognosis. (8899655)
1996
45
A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan. (8907321)
1996
46
Difficulties in distinguishing sporadic from familial amyotrophic lateral sclerosis. (8651656)
1996
47
Gene therapy for amyotrophic lateral sclerosis (ALS) using a polymer encapsulated xenogenic cell line engineered to secrete hCNTF. (8860837)
1996
48
Monoamine oxidase-B in motor cortex and spinal cord in amyotrophic lateral sclerosis studied by quantitative autoradiography. (7931232)
1994
49
Analysis of the functional effects of a mutation in SOD1 associated with familial amyotrophic lateral sclerosis. (7917302)
1994
50
Differential increases in catecholamine metabolizing enzymes in amyotrophic lateral sclerosis. (8405291)
1993

Genetic Variations for Amyotrophic Lateral Sclerosis

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Amyotrophic Lateral Sclerosis:

63 (show all 78)
id Symbol AA change Variation SNP ID
1SOD1p.Ala5ThrVAR_007130
2SOD1p.Ala5ValVAR_007131
3SOD1p.Val8GluVAR_007132
4SOD1p.Val15MetVAR_007133
5SOD1p.Gly17SerVAR_007134
6SOD1p.Glu22LysVAR_007135
7SOD1p.Gly38ArgVAR_007136
8SOD1p.Leu39ValVAR_007137
9SOD1p.Gly42SerVAR_007138
10SOD1p.Gly42AspVAR_007139
11SOD1p.His44ArgVAR_007140
12SOD1p.His47ArgVAR_007141
13SOD1p.His49GlnVAR_007142
14SOD1p.Leu85ValVAR_007143
15SOD1p.Gly86ArgVAR_007144
16SOD1p.Asp91AlaVAR_007145rs80265967
17SOD1p.Gly94AlaVAR_007146
18SOD1p.Gly94CysVAR_007147
19SOD1p.Gly94AspVAR_007148
20SOD1p.Gly94ArgVAR_007149
21SOD1p.Glu101GlyVAR_007150
22SOD1p.Asp102GlyVAR_007151
23SOD1p.Asp102AsnVAR_007152
24SOD1p.Leu107ValVAR_007153
25SOD1p.Ile113ThrVAR_007154
26SOD1p.Ile114ThrVAR_007155
27SOD1p.Arg116GlyVAR_007156
28SOD1p.Asp126HisVAR_007157
29SOD1p.Ser135AsnVAR_007158
30SOD1p.Asn140LysVAR_007159
31SOD1p.Leu145PheVAR_007160
32SOD1p.Val149GlyVAR_007161
33SOD1p.Val149IleVAR_007162
34SOD1p.Ile150ThrVAR_007163
35SOD1p.Ile152ThrVAR_007164
36SOD1p.Cys7PheVAR_008717
37SOD1p.Gly73SerVAR_008718
38SOD1p.Gly94ValVAR_008719
39SOD1p.Ile105PheVAR_008720
40SOD1p.Asp125ValVAR_008722
41SOD1p.Leu145SerVAR_008724
42SOD1p.Ala146ThrVAR_008725
43SOD1p.Ala5SerVAR_013518
44SOD1p.Leu9GlnVAR_013519
45SOD1p.Leu9ValVAR_013520
46SOD1p.Gly13ArgVAR_013521
47SOD1p.Val15GlyVAR_013522
48SOD1p.Glu22GlyVAR_013523
49SOD1p.Leu39ArgVAR_013524
50SOD1p.Phe46CysVAR_013525
51SOD1p.Glu50LysVAR_013526
52SOD1p.Asn66SerVAR_013527
53SOD1p.Leu68ArgVAR_013528
54SOD1p.Asp77TyrVAR_013529
55SOD1p.Leu85PheVAR_013530
56SOD1p.Asn87SerVAR_013531rs11556620
57SOD1p.Ala90ValVAR_013532
58SOD1p.Asp91ValVAR_013533
59SOD1p.Glu101LysVAR_013534
60SOD1p.Ser106LeuVAR_013535
61SOD1p.Gly109ValVAR_013536
62SOD1p.Ile113MetVAR_013537
63SOD1p.Gly115AlaVAR_013538
64SOD1p.Leu127SerVAR_013539
65SOD1p.Cys147ArgVAR_013540
66SOD1p.His81AlaVAR_016874
67SOD1p.Phe21CysVAR_045876
68SOD1p.Gln23LeuVAR_045877
69SOD1p.His49ArgVAR_045878
70SOD1p.Thr55ArgVAR_045879
71SOD1p.Val88AlaVAR_045880
72SOD1p.Ala90ThrVAR_045881
73SOD1p.Val98MetVAR_045882
74SOD1p.Val119LeuVAR_045883
75SOD1p.Asp125GlyVAR_045884
76SOD1p.Gly148ArgVAR_045885
77SOD1p.Ala96GlyVAR_065194
78SOD1p.Leu68ProVAR_065560

Expression for genes affiliated with Amyotrophic Lateral Sclerosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Amyotrophic Lateral Sclerosis

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis.

Pathways for genes affiliated with Amyotrophic Lateral Sclerosis

Sources:
52QIAGEN, 30KEGG, 12EMD Millipore, 38NCBI BioSystems Database
See all sources

Pathways related to Amyotrophic Lateral Sclerosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.9PRPH, NEFH, SOD1
2
Hide members
10.9DCTN1, PRPH, NEFH
310.8PON1, PON3

Compounds for genes affiliated with Amyotrophic Lateral Sclerosis

Sources:
45Novoseek, 24HMDB, 50PharmGKB, 11DrugBank
See all sources

Compounds related to Amyotrophic Lateral Sclerosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1superoxide45 2412.4SOD1, NEFH, PON1, TARDBP, VCP
2phenol45 2412.1DAO, PON1, PON3
3uric acid45 2412.0DAO, PON1, SOD1
4tumor necrosis factor alpha (tnf-alpha) inhibitors5011.0PON1, C9orf72
5benzoate4510.9DAO, SOD1
6thiobarbituric acid4510.9SOD1, PON1
7hocl4510.8PON1, SOD1
8phenylacetate4510.8PON1, PON3
9paraoxon45 2411.7PON3, PON1
10benzyl alcohol45 1111.5PON1, SOD1

GO Terms for genes affiliated with Amyotrophic Lateral Sclerosis

Sources:
16Gene Ontology
See all sources

Cellular components related to Amyotrophic Lateral Sclerosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:00573711.9SOD1, UBQLN2, OPTN, DCTN1, C9orf72, CHMP2B
2neurofilamentGO:00588310.5NEFH, PRPH

Biological processes related to Amyotrophic Lateral Sclerosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:00821912.3FUS, UBQLN2, OPTN, NEFH, DCTN1, C9orf72
2endoplasmic reticulum unfolded protein responseGO:03096810.9VCP, VAPB, DCTN1
3carboxylic acid catabolic processGO:04639510.8PON3, PON1
4aromatic compound catabolic processGO:01943910.8PON3, PON1
5neurofilament cytoskeleton organizationGO:06005210.7NEFH, SOD1
6response to external stimulusGO:00960510.5PON3, PON1

Molecular functions related to Amyotrophic Lateral Sclerosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551512.4FIG4, ANG, DCTN1, SQSTM1, OPTN, UBQLN2
2protein homodimerization activityGO:04280311.2VAPB, PON1, PON3, SQSTM1, SOD1
3aryldialkylphosphatase activityGO:00406310.8PON1, PON3
4arylesterase activityGO:00406410.5PON1, PON3

Products for genes affiliated with Amyotrophic Lateral Sclerosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Amyotrophic Lateral Sclerosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet