ALS
MCID: AMY001
MIFTS: 100

Amyotrophic Lateral Sclerosis (ALS) malady

Neuronal diseases, Genetic diseases categories

Summaries for Amyotrophic Lateral Sclerosis

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Sources:
42NIH Rare Diseases, 33MedlinePlus, 3CDC, 43NINDS, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 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 spinal cord, brain and bone, and related mouse phenotypes are behavior/neurological and cellular.

MedlinePlus:33 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:43 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.

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.

Wikipedia:63 Amyotrophic lateral sclerosis (ALS)—also referred to as motor neurone disease (MND) in most... more...

Description from OMIM:46 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

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Sources:
8Disease Ontology, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 30LifeMap Discovery™, 60UMLS, 27ICD9CM, 39NCIt, 34MeSH, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 63 19 42 20 22 21 43 46 10 44 48 33 30 60
als 8 63 42 21 48
lou gehrig disease 63 42 21 48
lou gehrig's disease 8 19 43
charcot disease 63 21 48
motor neuron disease, amyotrophic lateral sclerosis 63 21
amyotrophic lateral sclerosis type 1 42 22
amyotrophic lateral sclerosis 1 46 60
dementia with amyotrophic lateral sclerosis 21
amyotrophic lateral sclerosis with dementia 21
familial amyotrophic lateral sclerosis 63
motor neuron disease, bulbar 8
als1 42
fals 63


External Ids:

Disease Ontology8 DOID:332
ICD9CM27 335.20
NCIt39 C34373
MeSH34 D000690
SNOMED-CT56 86044005
MESH via Orphanet35 D000690
ICD10 via Orphanet26 G12.2
SNOMED-CT via Orphanet57 86044005
UMLS via Orphanet61 C0002736
ICD1025 F02, F03, F00.9

Related Diseases for Amyotrophic Lateral Sclerosis

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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 Tardbp-Related Amyotrophic Lateral Sclerosis
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 Sod1-Related Amyotrophic Lateral Sclerosis
Vapb-Related Amyotrophic Lateral Sclerosis Setx-Related Amyotrophic Lateral Sclerosis
Ang-Related Amyotrophic Lateral Sclerosis Fus-Related Amyotrophic Lateral Sclerosis
Fig4-Related Amyotrophic Lateral Sclerosis Optn-Related Amyotrophic Lateral Sclerosis
Pfn1-Related Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic Lateral Sclerosis 19 Amyotrophic Lateral Sclerosis 17
Amyotrophic Lateral Sclerosis 16, Juvenile 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

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

(show top 50)    (show all 2582)
idRelated DiseaseScoreTop Affiliating Genes
1lateral sclerosis32.7TARDBP
2dementia31.7SQSTM1, PON1, TARDBP, VCP
3motor neuron disease31.6VCP, TARDBP, DCTN1, NEFH, SQSTM1, SOD1
4frontotemporal dementia31.6SOD1, FUS, VCP, TARDBP, CHMP2B, C9orf72
5alzheimer's disease31.0SOD1, SQSTM1, NEFH, PON1, TARDBP, VCP
6parkinson's disease31.0SOD1, SQSTM1, PON1, VCP
7neuropathy31.0FIG4, NEFH
8pick's disease30.8TARDBP, SQSTM1
9huntington's disease30.7DCTN1
10aphasia30.5FUS, TARDBP, C9orf72
11myopathy30.4VCP, FIG4
12paget's disease of bone30.2SQSTM1, VCP
13neuronitis11.3
14muscular atrophy10.8
15multiple sclerosis10.8
16amyotrophic lateral sclerosis type 210.8
17amyotrophic lateral sclerosis, type 410.7
18spinal muscular atrophy10.7
19progressive muscular atrophy10.6
20amyotrophic lateral sclerosis type 810.6
21hyperlipidemia type 310.6
22werdnig-hoffmann disease10.6
23amyotrophic lateral sclerosis with frontotemporal dementia10.6
24cerebritis10.6
25cervicitis10.6
26neuromuscular disease10.6
27neurologic diseases10.6
28amyotrophic lateral sclerosis type 1110.6
29amyotrophic lateral sclerosis type 910.6
30tauopathy10.5
31amyotrophic lateral sclerosis type 310.5
32amyotrophic lateral sclerosis type 710.5
33amyotrophic lateral sclerosis-parkinsonism/dementia complex10.5
34muscular dystrophy10.5
35poliomyelitis10.5
36polyneuropathy10.5
37spinal cord disease10.5
38tardbp-related amyotrophic lateral sclerosis10.5
39amyotrophic lateral sclerosis type 1010.5
40anosognosia10.4
41hereditary spastic paraplegia10.4
42progressive supranuclear palsy10.4
43anterior horn cell disease10.4
44cerebral degeneration10.4
45leukemia10.4
46paraplegia10.4
47respiratory failure10.4
48amyotrophic lateral sclerosis type 510.4
49amyotrophic lateral sclerosis type 610.4
50amyotrophic lateral sclerosis-parkinsonism/dementia complex 110.4

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



Diseases related to amyotrophic lateral sclerosis

Clinical Features for Amyotrophic Lateral Sclerosis

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Sources:
46OMIM
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

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-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 UMLS60/NDF-RT40:

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

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20GeneTests, 22GTR
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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

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Sources:
30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis:

32
Spinal cord, Brain, Bone, Cortex, Skin, Endothelial, Skeletal muscle, Bone marrow, Testes, Monocytes, Tongue, Pituitary, Salivary gland, Eye, Amygdala, Temporal lobe, Whole blood, Cerebellum, Liver, Prostate, Breast

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

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36MGI
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MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538612.0FUS, SOD1, SQSTM1, NEFH, DCTN1, FIG4
2MP:000538411.8SQSTM1, NEFH, DCTN1, PON1, PFN1, TARDBP
3MP:000363111.6PRPH, NEFH, SQSTM1, SOD1, DCTN1, FIG4

Publications for Amyotrophic Lateral Sclerosis

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50PubMed
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Articles related to Amyotrophic Lateral Sclerosis:

(show top 50)    (show all 1841)
idTitleAuthorsYear
1
A new zebrafish model produced by TILLING of SOD1-related amyotrophic lateral sclerosis replicates key features of the disease and represents a tool for in vivo therapeutic screening. (24092880)
2014
2
Functional Interaction between Amyloid-I^ Precursor Protein and Peripherin Neurofilaments: A Shared Pathway Leading to Alzheimer's Disease and Amyotrophic Lateral Sclerosis? (24009040)
2013
3
Quantitative tractography and tract shape modeling in amyotrophic lateral sclerosis. (23450730)
2013
4
Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients. (23062600)
2013
5
Controversies and priorities in amyotrophic lateral sclerosis. (23415570)
2013
6
S[+] Apomorphine is a CNS penetrating activator of the Nrf2-ARE pathway with activity in mouse and patient fibroblast models of amyotrophic lateral sclerosis. (23608463)
2013
7
Fast prediction of deleterious angiogenin mutations causing amyotrophic lateral sclerosis. (23665167)
2013
8
Chitotriosidase - a putative biomarker for sporadic amyotrophic lateral sclerosis. (24295388)
2013
9
Amyotrophic lateral sclerosis: targeting the body's energy engine. (23534617)
2013
10
Optineurin mutations in Japanese amyotrophic lateral sclerosis. (21217154)
2012
11
VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient. (22878164)
2012
12
Motor nerve conduction study in cauda equina with high-voltage electrical stimulation in multifocal motor neuropathy and amyotrophic lateral sclerosis. (21254095)
2011
13
Deregulation of the hypoxia inducible factor-1I+ pathway in monocytes from sporadic amyotrophic lateral sclerosis patients. (20977930)
2011
14
Cytoplasmic mislocalization of TDP-43 is toxic to neurons and enhanced by a mutation associated with familial amyotrophic lateral sclerosis. (20071528)
2010
15
Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis. (20385912)
2010
16
Amyotrophic lateral sclerosis and excitotoxicity: from pathological mechanism to therapeutic target. (20406181)
2010
17
Hereditary neuropathy with liability to pressure palsies and amyotrophic lateral sclerosis. (19238316)
2009
18
Sensory involvement in the SOD1-G93A mouse model of amyotrophic lateral sclerosis. (19293633)
2009
19
XBP-1 deficiency in the nervous system protects against amyotrophic lateral sclerosis by increasing autophagy. (19762508)
2009
20
CHMP2B mutations are not a common cause of familial or sporadic amyotrophic lateral sclerosis. (18270236)
2008
21
Pathological TDP-43 in parkinsonism-dementia complex and amyotrophic lateral sclerosis of Guam. (17713769)
2008
22
Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen. (18313986)
2008
23
Pathogenesis and therapeutic perspectives for amyotrophic lateral sclerosis (ALS)]. (18210800)
2007
24
Serotonergic mechanisms in amyotrophic lateral sclerosis. (16861147)
2006
25
Chromogranin-mediated secretion of mutant superoxide dismutase proteins linked to amyotrophic lateral sclerosis. (16369483)
2006
26
Sporadic amyotrophic lateral sclerosis and breast cancer: Hyaline conglomerate inclusions lead to identification of SOD1 mutation. (16423367)
2006
27
Therapeutic benefit of intrathecal injection of insulin-like growth factor-1 in a mouse model of Amyotrophic Lateral Sclerosis. (15990113)
2005
28
Familial amyotrophic lateral sclerosis with His46Arg mutation in Cu/Zn superoxide dismutase presenting characteristic clinical features and Lewy body-like hyaline inclusions. (15465081)
2004
29
Decreased galectin-1 immunoreactivity of the skin in amyotrophic lateral sclerosis. (12639727)
2003
30
The structure of holo and metal-deficient wild-type human Cu, Zn superoxide dismutase and its relevance to familial amyotrophic lateral sclerosis. (12729761)
2003
31
Free insulin-like growth factor (IGF)-I and IGF binding proteins 2, 5, and 6 in spinal motor neurons in amyotrophic lateral sclerosis. (12660059)
2003
32
N19S, a new SOD1 mutation in sporadic amyotrophic lateral sclerosis: no evidence for disease causation. (12783432)
2003
33
Glutamate carboxypeptidase II inhibition protects motor neurons from death in familial amyotrophic lateral sclerosis models. (12876198)
2003
34
Up-regulation of mitochondrial uncoupling protein 3 reveals an early muscular metabolic defect in amyotrophic lateral sclerosis. (14500553)
2003
35
Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene. (11951178)
2002
36
Mutations in the lysyl oxidase gene are not associated with amyotrophic lateral sclerosis. (11675877)
2001
37
Transgenic mouse model for familial amyotrophic lateral sclerosis with superoxide dismutase-1 mutation. (11304046)
2001
38
Cellular changes in motoneurons in a transgenic mouse model for amyotrophic lateral sclerosis as revealed by monoclonal antibody Py. (11718846)
2001
39
Copper, ceruloplasmin and superoxide dismutase (SOD) in amyotrophic lateral sclerosis. (11068853)
2000
40
Immunohistochemical analysis of spinal cord lesions in amyotrophic lateral sclerosis using microtubule-associated protein 2 (MAP2) antibodies. (9930890)
1999
41
Serpin=serine protease-like complexes within neurofilament conglomerates of motoneurons in amyotrophic lateral sclerosis. (9851654)
1998
42
Relation between cognitive dysfunction and pseudobulbar palsy in amyotrophic lateral sclerosis. (9153602)
1997
43
Amyotrophic lateral sclerosis: oxidative energy metabolism and calcium homeostasis in peripheral blood lymphocytes. (8857745)
1996
44
Enhanced superoxide dismutase-2 immunoreactivity of astrocytes and occasional neurons in amyotrophic lateral sclerosis. (8866423)
1996
45
Motor neuron-astrocyte interactions and levels of Cu,Zn superoxide dismutase in sporadic amyotrophic lateral sclerosis. (7895821)
1995
46
Superoxide dismutase activity in lymphoblastoid cells from motor neurone disease/amyotrophic lateral sclerosis (MND/ALS) patients. (7595631)
1995
47
Coexistence of amyotrophic lateral sclerosis and Werdnig-Hoffmann disease within a family. (8232401)
1993
48
The gene encoding the glutamate receptor subunit GluR5 is located on human chromosome 21q21.1-22.1 in the vicinity of the gene for familial amyotrophic lateral sclerosis. (8419920)
1993
49
Pick's disease: a case clinically resembling amyotrophic lateral sclerosis. (1944916)
1991
50
Enzymatic analysis of individual posterior root ganglion cells in olivopontocerebellar atrophy, amyotrophic lateral sclerosis and Duchenne muscular dystrophy. (4045497)
1985

Genetic Variations for Amyotrophic Lateral Sclerosis

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Amyotrophic Lateral Sclerosis:

62 (show all 156)
id Symbol AA change Variation ID SNP ID
1SOD1p.Ala5ThrVAR_007130
2SOD1p.Ala5ThrVAR_007130
3SOD1p.Ala5ValVAR_007131
4SOD1p.Ala5ValVAR_007131
5SOD1p.Val8GluVAR_007132
6SOD1p.Val8GluVAR_007132
7SOD1p.Val15MetVAR_007133
8SOD1p.Val15MetVAR_007133
9SOD1p.Gly17SerVAR_007134
10SOD1p.Gly17SerVAR_007134
11SOD1p.Glu22LysVAR_007135
12SOD1p.Glu22LysVAR_007135
13SOD1p.Gly38ArgVAR_007136
14SOD1p.Gly38ArgVAR_007136
15SOD1p.Leu39ValVAR_007137
16SOD1p.Leu39ValVAR_007137
17SOD1p.Gly42SerVAR_007138
18SOD1p.Gly42SerVAR_007138
19SOD1p.Gly42AspVAR_007139
20SOD1p.Gly42AspVAR_007139
21SOD1p.His44ArgVAR_007140
22SOD1p.His44ArgVAR_007140
23SOD1p.His47ArgVAR_007141
24SOD1p.His47ArgVAR_007141
25SOD1p.His49GlnVAR_007142
26SOD1p.His49GlnVAR_007142
27SOD1p.Leu85ValVAR_007143
28SOD1p.Leu85ValVAR_007143
29SOD1p.Gly86ArgVAR_007144
30SOD1p.Gly86ArgVAR_007144
31SOD1p.Asp91AlaVAR_007145rs80265967
32SOD1p.Asp91AlaVAR_007145rs80265967
33SOD1p.Gly94AlaVAR_007146
34SOD1p.Gly94AlaVAR_007146
35SOD1p.Gly94CysVAR_007147
36SOD1p.Gly94CysVAR_007147
37SOD1p.Gly94AspVAR_007148
38SOD1p.Gly94AspVAR_007148
39SOD1p.Gly94ArgVAR_007149
40SOD1p.Gly94ArgVAR_007149
41SOD1p.Glu101GlyVAR_007150
42SOD1p.Glu101GlyVAR_007150
43SOD1p.Asp102GlyVAR_007151
44SOD1p.Asp102GlyVAR_007151
45SOD1p.Asp102AsnVAR_007152
46SOD1p.Asp102AsnVAR_007152
47SOD1p.Leu107ValVAR_007153
48SOD1p.Leu107ValVAR_007153
49SOD1p.Ile113ThrVAR_007154
50SOD1p.Ile113ThrVAR_007154
51SOD1p.Ile114ThrVAR_007155
52SOD1p.Ile114ThrVAR_007155
53SOD1p.Arg116GlyVAR_007156
54SOD1p.Arg116GlyVAR_007156
55SOD1p.Asp126HisVAR_007157
56SOD1p.Asp126HisVAR_007157
57SOD1p.Ser135AsnVAR_007158
58SOD1p.Ser135AsnVAR_007158
59SOD1p.Asn140LysVAR_007159
60SOD1p.Asn140LysVAR_007159
61SOD1p.Leu145PheVAR_007160
62SOD1p.Leu145PheVAR_007160
63SOD1p.Val149GlyVAR_007161
64SOD1p.Val149GlyVAR_007161
65SOD1p.Val149IleVAR_007162
66SOD1p.Val149IleVAR_007162
67SOD1p.Ile150ThrVAR_007163
68SOD1p.Ile150ThrVAR_007163
69SOD1p.Ile152ThrVAR_007164
70SOD1p.Ile152ThrVAR_007164
71SOD1p.Cys7PheVAR_008717
72SOD1p.Cys7PheVAR_008717
73SOD1p.Gly73SerVAR_008718
74SOD1p.Gly73SerVAR_008718
75SOD1p.Gly94ValVAR_008719
76SOD1p.Gly94ValVAR_008719
77SOD1p.Ile105PheVAR_008720
78SOD1p.Ile105PheVAR_008720
79SOD1p.Asp125ValVAR_008722
80SOD1p.Asp125ValVAR_008722
81SOD1p.Leu145SerVAR_008724
82SOD1p.Leu145SerVAR_008724
83SOD1p.Ala146ThrVAR_008725
84SOD1p.Ala146ThrVAR_008725
85SOD1p.Ala5SerVAR_013518
86SOD1p.Ala5SerVAR_013518
87SOD1p.Leu9GlnVAR_013519
88SOD1p.Leu9GlnVAR_013519
89SOD1p.Leu9ValVAR_013520
90SOD1p.Leu9ValVAR_013520
91SOD1p.Gly13ArgVAR_013521
92SOD1p.Gly13ArgVAR_013521
93SOD1p.Val15GlyVAR_013522
94SOD1p.Val15GlyVAR_013522
95SOD1p.Glu22GlyVAR_013523
96SOD1p.Glu22GlyVAR_013523
97SOD1p.Leu39ArgVAR_013524
98SOD1p.Leu39ArgVAR_013524
99SOD1p.Phe46CysVAR_013525
100SOD1p.Phe46CysVAR_013525
101SOD1p.Glu50LysVAR_013526
102SOD1p.Glu50LysVAR_013526
103SOD1p.Asn66SerVAR_013527
104SOD1p.Asn66SerVAR_013527
105SOD1p.Leu68ArgVAR_013528
106SOD1p.Leu68ArgVAR_013528
107SOD1p.Asp77TyrVAR_013529
108SOD1p.Asp77TyrVAR_013529
109SOD1p.Leu85PheVAR_013530
110SOD1p.Leu85PheVAR_013530
111SOD1p.Asn87SerVAR_013531rs11556620
112SOD1p.Asn87SerVAR_013531rs11556620
113SOD1p.Ala90ValVAR_013532
114SOD1p.Ala90ValVAR_013532
115SOD1p.Asp91ValVAR_013533
116SOD1p.Asp91ValVAR_013533
117SOD1p.Glu101LysVAR_013534
118SOD1p.Glu101LysVAR_013534
119SOD1p.Ser106LeuVAR_013535
120SOD1p.Ser106LeuVAR_013535
121SOD1p.Gly109ValVAR_013536
122SOD1p.Gly109ValVAR_013536
123SOD1p.Ile113MetVAR_013537
124SOD1p.Ile113MetVAR_013537
125SOD1p.Gly115AlaVAR_013538
126SOD1p.Gly115AlaVAR_013538
127SOD1p.Leu127SerVAR_013539
128SOD1p.Leu127SerVAR_013539
129SOD1p.Cys147ArgVAR_013540
130SOD1p.Cys147ArgVAR_013540
131SOD1p.His81AlaVAR_016874
132SOD1p.His81AlaVAR_016874
133SOD1p.Phe21CysVAR_045876
134SOD1p.Phe21CysVAR_045876
135SOD1p.Gln23LeuVAR_045877
136SOD1p.Gln23LeuVAR_045877
137SOD1p.His49ArgVAR_045878
138SOD1p.His49ArgVAR_045878
139SOD1p.Thr55ArgVAR_045879
140SOD1p.Thr55ArgVAR_045879
141SOD1p.Val88AlaVAR_045880
142SOD1p.Val88AlaVAR_045880
143SOD1p.Ala90ThrVAR_045881
144SOD1p.Ala90ThrVAR_045881
145SOD1p.Val98MetVAR_045882
146SOD1p.Val98MetVAR_045882
147SOD1p.Val119LeuVAR_045883
148SOD1p.Val119LeuVAR_045883
149SOD1p.Asp125GlyVAR_045884
150SOD1p.Asp125GlyVAR_045884
151SOD1p.Gly148ArgVAR_045885
152SOD1p.Gly148ArgVAR_045885
153SOD1p.Ala96GlyVAR_065194
154SOD1p.Ala96GlyVAR_065194
155SOD1p.Leu68ProVAR_065560
156SOD1p.Leu68ProVAR_065560

Expression for genes affiliated with Amyotrophic Lateral Sclerosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
51QIAGEN, 29KEGG, 12EMD Millipore, 37NCBI 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

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Sources:
44Novoseek, 24HMDB, 49PharmGKB, 11DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1superoxide44 2412.4SOD1, NEFH, PON1, TARDBP, VCP
2phenol44 2412.1DAO, PON1, PON3
3uric acid44 2412.0DAO, PON1, SOD1
4tumor necrosis factor alpha (tnf-alpha) inhibitors4911.0PON1, C9orf72
5benzoate4410.9DAO, SOD1
6thiobarbituric acid4410.9SOD1, PON1
7hocl4410.8PON1, SOD1
8phenylacetate4410.8PON1, PON3
9paraoxon44 2411.7PON3, PON1
10benzyl alcohol44 1111.5PON1, SOD1

GO Terms for genes affiliated with Amyotrophic Lateral Sclerosis

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Sources:
16Gene Ontology
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Cellular components related to Amyotrophic Lateral Sclerosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:00573711.9UBQLN2, OPTN, DCTN1, C9orf72, CHMP2B, PFN1
2neurofilamentGO:00588310.5PRPH, NEFH

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:04639510.8PON1, PON3
4aromatic compound catabolic processGO:01943910.8PON3, PON1
5neurofilament cytoskeleton organizationGO:06005210.7NEFH, SOD1
6response to external stimulusGO:00960510.5PON1, PON3

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

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

Products for genes affiliated with Amyotrophic Lateral Sclerosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Amyotrophic Lateral Sclerosis

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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