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
Carnitine deficiency presenting with a decreased mental state in a patient with amyotrophic lateral sclerosis receiving long-term tube feeding: a case report. (24377720)
2013
2
Therapeutic neuroprotective agents for amyotrophic lateral sclerosis. (23864030)
2013
3
Trehalose delays the progression of amyotrophic lateral sclerosis by enhancing autophagy in motoneurons. (23851366)
2013
4
Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants. (24325798)
2013
5
An electronic communication system for amyotrophic lateral sclerosis patients - biomed 2013. (23686182)
2013
6
Genetic and epigenetic studies of amyotrophic lateral sclerosis. (23678879)
2013
7
Therapeutic exercise for people with amyotrophic lateral sclerosis or motor neuron disease. (23728653)
2013
8
Metabolomics in cerebrospinal fluid of patients with amyotrophic lateral sclerosis: an untargeted approach via high-resolution mass spectrometry. (23859630)
2013
9
Disulfide scrambling describes the oligomer formation of superoxide dismutase (SOD1) proteins in the familial form of amyotrophic lateral sclerosis. (23264618)
2013
10
Screening of the TARDBP gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin. (22575358)
2012
11
The Relationship between Depressive Symptoms, Disease State, and Cognition in Amyotrophic Lateral Sclerosis. (23411492)
2012
12
C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism. (22807188)
2012
13
Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. (22366793)
2012
14
Discrimination of spinal and bulbar muscular atrophy from amyotrophic lateral sclerosis using sensory nerve action potentials. (22246870)
2012
15
Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis. (22196955)
2012
16
REM behavior disorder associated with familial amyotrophic lateral sclerosis. (22670878)
2012
17
Implications of water channel proteins in selected neurological disorders: epilepsies, muscular dystrophies, amyotrophic lateral sclerosis, neuromyelitis optica, Parkinson's disease, and spongiform encephalopathies. (22484281)
2012
18
Peripherin partially localizes in Bunina bodies in amyotrophic lateral sclerosis. (21241994)
2011
19
Treatment for sialorrhea (excessive saliva) in people with motor neuron disease/amyotrophic lateral sclerosis. (21563158)
2011
20
TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis. (20959352)
2011
21
Markedly reduced axonal potassium channel expression in human sporadic amyotrophic lateral sclerosis: an immunohistochemical study. (21906595)
2011
22
Enteral tube feeding for amyotrophic lateral sclerosis/motor neuron disease. (21249659)
2011
23
Neuroinflammation in amyotrophic lateral sclerosis: role of glial activation in motor neuron disease. (21349440)
2011
24
The GH-IGF system in amyotrophic lateral sclerosis: correlations between pituitary GH secretion capacity, insulin-like growth factors and clinical features. (20002733)
2010
25
Impaired glucose tolerance in patients with amyotrophic lateral sclerosis. (20184518)
2010
26
Association study between XRCC1 gene polymorphisms and sporadic amyotrophic lateral sclerosis. (19707910)
2010
27
CSF hypocretin-1 levels are normal in patients with amyotrophic lateral sclerosis. (19922146)
2009
28
Sporadic amyotrophic lateral sclerosis: Widespread multisystem degeneration with TDP-43 pathology in a patient after long-term survival on a respirator. (19170893)
2009
29
Parkinson disease and amyotrophic lateral sclerosis. Tauopathies, TDP-43 and SOD mutations]. (18808763)
2009
30
Metal-free superoxide dismutase-1 and three different amyotrophic lateral sclerosis variants share a similar partially unfolded beta-barrel at physiological temperature. (19805550)
2009
31
Presymptomatic biochemical changes in hindlimb muscle of G93A human Cu/Zn superoxide dismutase 1 transgenic mouse model of amyotrophic lateral sclerosis. (18485920)
2008
32
Distinctions between the dementia in amyotrophic lateral sclerosis with frontotemporal dementia and the dementia of Alzheimer's disease. (17917849)
2007
33
TDP-43 immunoreactivity in neuronal inclusions in familial amyotrophic lateral sclerosis with or without SOD1 gene mutation. (17333220)
2007
34
Similar topographical distribution of neurofibrillary tangles in amyotrophic lateral sclerosis and parkinsonism-dementia complex in people living in the Kii peninsula of Japan suggests a single tauopathy. (17277950)
2007
35
Antioxidant treatment for amyotrophic lateral sclerosis / motor neuron disease. (17253482)
2007
36
SOD1 gene mutations in Italian patients with Sporadic Amyotrophic Lateral Sclerosis (ALS). (16952453)
2006
37
Calorimetric analysis of thermodynamic stability and aggregation for apo and holo amyotrophic lateral sclerosis-associated Gly-93 mutants of superoxide dismutase. (16407238)
2006
38
Insoluble mutant SOD1 is partly oligoubiquitinated in amyotrophic lateral sclerosis mice. (16943203)
2006
39
Tau protein concentrations in cerebrospinal fluid of patients with amyotrophic lateral sclerosis. (15644071)
2005
40
Analysis of the cytosolic proteome in a cell culture model of familial amyotrophic lateral sclerosis reveals alterations to the proteasome, antioxidant defenses, and nitric oxide synthetic pathways. (12475980)
2003
41
Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes. (14506936)
2003
42
DNA base-excision repair enzyme apurinic/apyrimidinic endonuclease/redox factor-1 is increased and competent in the brain and spinal cord of individuals with amyotrophic lateral sclerosis. (12230304)
2002
43
Mitochondrial localization of mutant superoxide dismutase 1 triggers caspase-dependent cell death in a cellular model of familial amyotrophic lateral sclerosis. (12393885)
2002
44
Proteasomal inhibition by misfolded mutant superoxide dismutase 1 induces selective motor neuron death in familial amyotrophic lateral sclerosis. (12437574)
2002
45
Recent advances in amyotrophic lateral sclerosis. (10970056)
2000
46
Nitric oxide synthase expression in cervical spinal cord in sporadic amyotrophic lateral sclerosis. (9930658)
1998
47
Reexamination of the mechanism of hydroxyl radical adducts formed from the reaction between familial amyotrophic lateral sclerosis-associated Cu,Zn superoxide dismutase mutants and H2O2. (9618471)
1998
48
On intra-familial clinical diversities of a familial amyotrophic lateral sclerosis with a point mutation of Cu/Zn superoxide dismutase (Asn 86-Ser]. (9311004)
1997
49
Concurrence of Alzheimer's disease, Parkinson's disease, diffuse Lewy body disease, and amyotrophic lateral sclerosis. (7738598)
1995
50
Amyotrophic lateral sclerosis with multiple myeloma]. (2100033)
1990

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
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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