ALS
MCID: AMY001
MIFTS: 98

Amyotrophic Lateral Sclerosis (ALS) malady

Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases, Nephrological diseases categories
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Summaries for Amyotrophic Lateral Sclerosis

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Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 44NINDS, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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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 dementia. An important gene associated with Amyotrophic Lateral Sclerosis is SOD1 (superoxide dismutase 1, soluble), and among its related pathways are Amyotrophic lateral sclerosis (ALS) and Cytoplasmic microtubules. The drug riluzole and the compounds superoxide and tumor necrosis factor alpha (tnf-alpha) inhibitors have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and bone, and related mouse phenotypes are cellular and nervous system.

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

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:65 Amyotrophic lateral sclerosis (ALS)?also referred to as motor neurone disease (MND), Charcot disease,... more...

Description from OMIM:47 608627, 205100, 105400, 612577, 608030 602433, 613435, 611895, 612069, 205250, 300857, 606640, 608031, 613954, 614696, 614808, 615515, 606070, 615426 more

GeneReviews summary for als-overview

Aliases & Classifications for Amyotrophic Lateral Sclerosis

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Sources:
8Disease Ontology, 65Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 34MedlinePlus, 31LifeMap Discovery™, 62UMLS, 40NCIt, 58SNOMED-CT, 27ICD9CM, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Classifications:



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 65 19 43 20 22 21 44 47 10 45 49 34 31 62
als 8 65 43 21 49
lou gehrig disease 65 43 21 49
lou gehrig's disease 8 19 44
charcot disease 65 21 49
motor neuron disease, amyotrophic lateral sclerosis 65 21
amyotrophic lateral sclerosis type 1 43 22
amyotrophic lateral sclerosis 1 47 62
dementia with amyotrophic lateral sclerosis 21
amyotrophic lateral sclerosis with dementia 21
familial amyotrophic lateral sclerosis 65
motor neuron disease, bulbar 8
als1 43
fals 65


External Ids:

Disease Ontology8 DOID:332
NCIt40 C34373
ICD9CM27 335.20
MeSH35 D000690
SNOMED-CT58 86044005
MESH via Orphanet36 D000690
ICD10 via Orphanet26 G12.2
SNOMED-CT via Orphanet59 86044005
UMLS via Orphanet63 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 21 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 2821)
idRelated DiseaseScoreTop Affiliating Genes
1lateral sclerosis33.0TARDBP
2dementia31.9SQSTM1, VCP, PON1, TARDBP
3motor neuron disease31.9DCTN1, SOD1, NEFH, SQSTM1, TARDBP, VCP
4frontotemporal dementia31.8CHMP2B, TARDBP, UBQLN2, SQSTM1, VCP, SOD1
5alzheimer's disease31.3TARDBP, VCP, PON1, ERBB4, NEFH, SQSTM1
6neuropathy31.2FIG4, NEFH
7parkinson's disease31.2SQSTM1, VCP, PON1, SOD1
8pick's disease31.0TARDBP, SQSTM1
9progressive supranuclear palsy30.8FUS, TARDBP
10aphasia30.7TARDBP, FUS, C9orf72
11tropical spastic paraparesis30.7HNRNPA1
12inclusion body myopathy with early-onset paget disease and frontotemporal dementia 130.5VCP
13paget's disease of bone30.5VCP, SQSTM1
14liposarcoma30.5FUS, TARDBP
15prostate cancer30.2SQSTM1, ERBB4, HNRNPA1, PON1, ANG
16neuronitis11.4
17al amyloidosis10.9
18muscular atrophy10.8
19endotheliitis10.8
20amyotrophic lateral sclerosis type 210.8
21amyotrophic lateral sclerosis-parkinsonism/dementia complex10.8
22amyotrophic lateral sclerosis, type 410.7
23amyotrophic lateral sclerosis with frontotemporal dementia10.7
24progressive muscular atrophy10.7
25amyotrophic lateral sclerosis type 810.7
26spasticity10.7
27multiple sclerosis10.7
28hyperlipidemia type 310.6
29werdnig-hoffmann disease10.6
30spinal muscular atrophy10.6
31cerebritis10.6
32cervicitis10.6
33amyotrophic lateral sclerosis type 1110.6
34amyotrophic lateral sclerosis type 910.6
35tauopathy10.6
36amyotrophic lateral sclerosis type 310.6
37amyotrophic lateral sclerosis type 710.6
38multifocal motor neuropathy10.6
39dysphagia10.6
40blindness10.6
41huntington's disease10.5
42muscular dystrophy10.5
43neuromuscular disease10.5
44poliomyelitis10.5
45polyneuropathy10.5
46tardbp-related amyotrophic lateral sclerosis10.5
47amyotrophic lateral sclerosis type 1010.5
48amyotrophic lateral sclerosis type 610.5
49sod1-related amyotrophic lateral sclerosis10.5
50hypoxia10.5

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



Diseases related to amyotrophic lateral sclerosis

Symptoms for Amyotrophic Lateral Sclerosis

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Sources:
47OMIM
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Symptoms by clinical synopsis from OMIM:

105400

Clinical features from OMIM:

608627, 205100, 105400, 612577, 608030, 602433, 613435, 611895, 612069, 205250 300857, 606640, 608031, 613954, 614696, 614808, 615515, 606070, 615426 more

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Amyotrophic Lateral Sclerosis

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis

Inferred drug relations via UMLS62/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

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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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31LifeMap Discovery™, 33MalaCards
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MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis:

33
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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37MGI
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MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538410.9SQSTM1, ERBB4, VAPB, NEFH, VCP, PFN1
2MP:000363110.9FUS, DCTN1, SOD1, PFN1, VCP, NEFH
3MP:000538610.8SQSTM1, FIG4, VAPB, NEFH, VCP, FUS
4MP:001076810.7PON3, SOD1, DCTN1, FUS, PFN1, VCP
5MP:000539710.6ERBB4, SQSTM1, FIG4, VCP, PFN1, SOD1
6MP:000539010.6TARDBP, SOD1, PFN1, VCP, FIG4, SQSTM1
7MP:000538710.5FUS, TARDBP, ERBB4, SOD1, PFN1, VCP
8MP:000536910.3VCP, VAPB, FIG4, ERBB4, TARDBP, SOD1

Publications for Amyotrophic Lateral Sclerosis

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Sources:
52PubMed
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Articles related to Amyotrophic Lateral Sclerosis:

(show top 50)    (show all 1822)
idTitleAuthorsYear
1
Limb-onset amyotrophic lateral sclerosis patients visiting orthopedist show a longer time-to-diagnosis since symptom onset. (23394455)
2013
2
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
3
Genetics of amyotrophic lateral sclerosis: an update. (23941283)
2013
4
Two case reports of an unusual association between Klippel-Feil syndrome and amyotrophic lateral sclerosis: Do they share same genetic defect? (24339616)
2013
5
Characterization of Wnt/I^-catenin and BMP/Smad signaling pathways in an in vitro model of amyotrophic lateral sclerosis. (24348333)
2013
6
EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans. (22922411)
2012
7
TARDBP gene mutations among Chinese patients with sporadic amyotrophic lateral sclerosis. (20708823)
2012
8
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. (22406228)
2012
9
Two potential biomarkers identified in mesenchymal stem cells and leukocytes of patients with sporadic amyotrophic lateral sclerosis. (22430187)
2012
10
The RNA-binding motif 45 (RBM45) protein accumulates in inclusion bodies in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) patients. (22993125)
2012
11
Sporadic juvenile amyotrophic lateral sclerosis caused by mutant FUS/TLS: possible association of mental retardation with this mutation. (22057404)
2012
12
CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis. (22507827)
2012
13
The split hand syndrome in amyotrophic lateral sclerosis. (22100761)
2012
14
Motor nerve conduction study in cauda equina with high-voltage electrical stimulation in multifocal motor neuropathy and amyotrophic lateral sclerosis. (21254095)
2011
15
Misfolded superoxide dismutase-1 in CSF from amyotrophic lateral sclerosis patients. (21226712)
2011
16
Elevated CSF TDP-43 levels in amyotrophic lateral sclerosis: specificity, sensitivity, and a possible prognostic value. (21126161)
2011
17
Vascular endothelial growth factor attenuates neurodegenerative changes in the NSC-34 motor neuron cell line induced by cerebrospinal fluid of sporadic amyotrophic lateral sclerosis patients. (21389676)
2011
18
Appearance of phagocytic microglia adjacent to motoneurons in spinal cord tissue from a presymptomatic transgenic rat model of amyotrophic lateral sclerosis. (20648658)
2010
19
Superficial siderosis mimicking amyotrophic lateral sclerosis. (20215988)
2010
20
Analysis of the UNC13A gene as a risk factor for sporadic amyotrophic lateral sclerosis. (20385924)
2010
21
A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis. (19058054)
2009
22
CSF hypocretin-1 levels are normal in patients with amyotrophic lateral sclerosis. (19922146)
2009
23
Abnormal diffusion tensor in nonsymptomatic familial amyotrophic lateral sclerosis with a causative superoxide dismutase 1 mutation. (18022844)
2008
24
Distinctions between the dementia in amyotrophic lateral sclerosis with frontotemporal dementia and the dementia of Alzheimer's disease. (17917849)
2007
25
Ascending neuropathology in the CNS of a mutant SOD1 mouse model of amyotrophic lateral sclerosis. (16737688)
2006
26
Histological recovery of the hepatocytes is based on the redox system upregulation in the animal models of mutant superoxide dismutase (SOD)1-linked amyotrophic lateral sclerosis. (16598672)
2006
27
Primary lateral sclerosis, hereditary spastic paraplegia and amyotrophic lateral sclerosis: discrete entities or spectrum? (16036421)
2005
28
Expression of an endoplasmic reticulum-resident chaperone, glucose-regulated stress protein 78, in the spinal cord of a mouse model of amyotrophic lateral sclerosis. (16231159)
2005
29
Inhibition of chaperone activity is a shared property of several Cu,Zn-superoxide dismutase mutants that cause amyotrophic lateral sclerosis. (15753080)
2005
30
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). (15106121)
2004
31
17q-linked frontotemporal dementia-amyotrophic lateral sclerosis without tau mutations with tau and alpha-synuclein inclusions. (15023818)
2004
32
Decreased galectin-1 immunoreactivity of the skin in amyotrophic lateral sclerosis. (12639727)
2003
33
Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosis. (12768434)
2003
34
The structure of holo and metal-deficient wild-type human Cu, Zn superoxide dismutase and its relevance to familial amyotrophic lateral sclerosis. (12729761)
2003
35
Dynamic properties of the G93A mutant of copper-zinc superoxide dismutase as detected by NMR spectroscopy: implications for the pathology of familial amyotrophic lateral sclerosis. (12590575)
2003
36
No correlation between aggregates of Cu/Zn superoxide dismutase and cell death in familial amyotrophic lateral sclerosis. (12358770)
2002
37
Amyotrophic lateral sclerosis and SOD1 gene: an overview. (11996514)
2001
38
Genetics of amyotrophic lateral sclerosis. (19714405)
2000
39
Manganese superoxide dismutase levels are elevated in a proportion of amyotrophic lateral sclerosis patient cell lines. (10873611)
2000
40
Unaltered cytochrome oxidase, glutamate dehydrogenase and glutaminase activities in platelets from patients with sporadic amyotrophic lateral sclerosis--a study of potential pathogenetic mechanisms in neurodegenerative diseases. (11458996)
2000
41
Simple and defined method to detect the SOD-1 mutants from patients with familial amyotrophic lateral sclerosis by mass spectrometry. (9696308)
1998
42
A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis. (9131652)
1997
43
A missense mutation in the SOD1 gene in patients with amyotrophic lateral sclerosis from the Kii Peninsula and its vicinity, Japan. (10732812)
1997
44
Muscarinic, N-methyl-D-aspartate (NMDA) and benzodiazepine receptor binding sites in cortical membranes from amyotrophic lateral sclerosis patients. (8981309)
1996
45
Apolipoprotein E genotyping in sporadic amyotrophic lateral sclerosis: evidence for a major influence on the clinical presentation and prognosis. (8899655)
1996
46
Amyotrophic lateral sclerosis associated with multiple myeloma, endocrinopathy and skin changes suggestive of a POEMS syndrome variant. (7595623)
1995
47
Neurofibrillary degeneration in amyotrophic lateral sclerosis/parkinsonism-dementia complex of Guam. Immunochemical characterization of tau proteins. (7717459)
1995
48
Cu/Zn superoxide dismutase (SOD1) mutations and sporadic amyotrophic lateral sclerosis. (8105280)
1993
49
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. (8351519)
1993
50
Spinal cord neurofibrillary tangles of Guamanian amyotrophic lateral sclerosis and parkinsonism-dementia complex: an immunohistochemical study. (2161095)
1990

Variations for Amyotrophic Lateral Sclerosis

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis:

64 (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

Clinvar genetic disease variations for Amyotrophic Lateral Sclerosis:

1 (show all 33)
id Gene Name Type Significance SNP ID Assembly Location
1SOD1NM_000454.4(SOD1): c.112G> A (p.Gly38Arg)single nucleotide variantPathogenicrs121912431GRCh37Chr 21, 33036142: 33036142
2SOD1NM_000454.4(SOD1): c.115C> G (p.Leu39Val)single nucleotide variantPathogenicrs121912432GRCh37Chr 21, 33036145: 33036145
3SOD1NM_000454.4(SOD1): c.124G> A (p.Gly42Ser)single nucleotide variantPathogenicrs121912433GRCh37Chr 21, 33036154: 33036154
4SOD1NM_000454.4(SOD1): c.125G> A (p.Gly42Asp)single nucleotide variantPathogenicrs121912434GRCh37Chr 21, 33036155: 33036155
5SOD1NM_000454.4(SOD1): c.131A> G (p.His44Arg)single nucleotide variantPathogenicrs121912435GRCh37Chr 21, 33036161: 33036161
6SOD1NM_000454.4(SOD1): c.319C> G (p.Leu107Val)single nucleotide variantPathogenicrs121912440GRCh37Chr 21, 33039650: 33039650
7SOD1NM_000454.4(SOD1): c.256G> C (p.Gly86Arg)single nucleotide variantPathogenicrs121912436GRCh37Chr 21, 33039587: 33039587
8SOD1NM_000454.4(SOD1): c.280G> T (p.Gly94Cys)single nucleotide variantPathogenicrs121912437GRCh37Chr 21, 33039611: 33039611
9SOD1NM_000454.4(SOD1): c.281G> C (p.Gly94Ala)single nucleotide variantPathogenicrs121912438GRCh37Chr 21, 33039612: 33039612
10SOD1NM_000454.4(SOD1): c.302A> G (p.Glu101Gly)single nucleotide variantPathogenicrs121912439GRCh37Chr 21, 33039633: 33039633
11SOD1NM_000454.4(SOD1): c.338T> C (p.Ile113Thr)single nucleotide variantPathogenicrs74315452GRCh37Chr 21, 33039669: 33039669
12SOD1NM_000454.4(SOD1): c.14C> T (p.Ala5Val)single nucleotide variantPathogenicrs121912442GRCh37Chr 21, 33032096: 33032096
13SOD1NM_000454.4(SOD1): c.140A> G (p.His47Arg)single nucleotide variantPathogenicrs121912443GRCh37Chr 21, 33036170: 33036170
14SOD1NM_000454.4(SOD1): c.13G> A (p.Ala5Thr)single nucleotide variantPathogenicrs121912444GRCh37Chr 21, 33032095: 33032095
15SOD1NM_000454.4(SOD1): c.272A> C (p.Asp91Ala)single nucleotide variantPathogenicrs80265967GRCh37Chr 21, 33039603: 33039603
16SOD1NM_000454.4(SOD1): c.434T> C (p.Leu145Ser)single nucleotide variantPathogenicrs121912446GRCh37Chr 21, 33040860: 33040860
17SOD1NM_000454.4(SOD1): c.436G> A (p.Ala146Thr)single nucleotide variantPathogenicrs121912447GRCh37Chr 21, 33040862: 33040862
18SOD1SOD1, IVS4AS, T-G, -10single nucleotide variantPathogenic
19SOD1NM_000454.4(SOD1): c.20G> T (p.Cys7Phe)single nucleotide variantPathogenicrs121912448GRCh37Chr 21, 33032102: 33032102
20SOD1NM_000454.4(SOD1): c.455T> C (p.Ile152Thr)single nucleotide variantPathogenicrs121912449GRCh37Chr 21, 33040881: 33040881
21SOD1NM_000454.4(SOD1): c.64G> A (p.Glu22Lys)single nucleotide variantPathogenicrs121912450GRCh37Chr 21, 33032146: 33032146
22SOD1NM_000454.4(SOD1): c.404G> A (p.Ser135Asn)single nucleotide variantPathogenicrs121912451GRCh37Chr 21, 33040830: 33040830
23SOD1NM_000454.4(SOD1): c.253T> G (p.Leu85Val)single nucleotide variantPathogenicrs121912452GRCh37Chr 21, 33039584: 33039584
24SOD1NM_000454.4(SOD1): c.49G> A (p.Gly17Ser)single nucleotide variantPathogenicrs121912453GRCh37Chr 21, 33032131: 33032131
25SOD1NM_000454.4(SOD1): c.380T> A (p.Leu127Ter)single nucleotide variantPathogenicrs121912454GRCh37Chr 21, 33040806: 33040806
26SOD1SOD1, IVS4AS, A-G, -11single nucleotide variantPathogenic
27SOD1NM_000454.4(SOD1): c.217G> A (p.Gly73Ser)single nucleotide variantPathogenicrs121912455GRCh37Chr 21, 33038809: 33038809
28SOD1NM_000454.4(SOD1): c.37G> C (p.Gly13Arg)single nucleotide variantPathogenicrs121912456GRCh37Chr 21, 33032119: 33032119
29SOD1NM_000454.4(SOD1): c.137T> G (p.Phe46Cys)single nucleotide variantPathogenicrs121912457GRCh37Chr 21, 33036167: 33036167
30SOD1NM_000454.4(SOD1): c.242A> G (p.His81Arg)single nucleotide variantPathogenicrs121912458GRCh37Chr 21, 33039573: 33039573
31SOD1NM_000454.4(SOD1): c.280G> C (p.Gly94Arg)single nucleotide variantPathogenicrs121912437GRCh37Chr 21, 33039611: 33039611
32SOD1SOD1, 6-BP DEL, GGACCAdeletionPathogenic
33SOD1SOD1, IVS4AS, C-G, -304single nucleotide variantPathogenic

Expression for genes affiliated with Amyotrophic Lateral Sclerosis

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Sources:
2BioGPS, 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:
50PathCards, 30KEGG, 53QIAGEN, 38NCBI BioSystems Database, 12EMD Millipore, 60Thomson Reuters, 5Cell Signaling Technology
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Pathways related to Amyotrophic Lateral Sclerosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Amyotrophic lateral sclerosis (ALS)38
10.6PRPH, NEFH, SOD1
2
Show member pathways
Cytoskeleton remodeling Neurofilaments60
10.6DCTN1, NEFH, PRPH
310.5SQSTM1, HNRNPA1, FUS
410.5PON1, PON3

Compounds for genes affiliated with Amyotrophic Lateral Sclerosis

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Sources:
45Novoseek, 24HMDB, 51PharmGKB, 11DrugBank
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Compounds related to Amyotrophic Lateral Sclerosis according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1superoxide45 2411.9TARDBP, NEFH, VCP, PON1, SOD1
2tumor necrosis factor alpha (tnf-alpha) inhibitors5110.8C9orf72, PON1
3thiobarbituric acid4510.8PON1, SOD1
4phenylacetate4510.8PON3, PON1
5paraoxon45 2411.8PON1, PON3
6benzyl alcohol45 1111.8PON1, SOD1
7hocl4510.7SOD1, PON1
8hydroquinone45 2411.7PON3, SOD1
9lycopene45 2411.7SOD1, PON1
10Propyl alcohol2410.7PON3, PON1
11Isopropyl alcohol2410.6PON3, PON1
12tyrosine4510.6ERBB4, SQSTM1, HNRNPA1, ANG, NEFH, VCP
13Isobutanol2410.6PON3, PON1
141-Pentanol2410.5PON3, PON1
151-Hexanol2410.4PON3, PON1
161-Butanol2410.2PON3, PON1

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
1nucleusGO:00563410.9PFN1, FUS, C9orf72, SOD1, VCP, CHMP2B
2extracellular vesicular exosomeGO:07006210.8SOD1, PON3, PFN1, VCP, HNRNPA1, CHMP2B
3cytosolGO:00582910.7VCP, ERBB4, SQSTM1, CHMP2B, PFN1, SOD1
4cytoplasmGO:00573710.7SOD1, FUS, DCTN1, OPTN, VCP, CHMP2B
5neurofilamentGO:00588310.7NEFH, PRPH
6nucleoplasmGO:00565410.6FUS, HNRNPA1, OPTN, ERBB4, SQSTM1
7autophagic vacuoleGO:00577610.5C9orf72, SQSTM1
8extracellular spaceGO:00561510.5PON1, PON3, SOD1, C9orf72, ANG
9nucleolusGO:00573010.3HNRNPA1, ANG, VCP, SOD1, FUS, TARDBP

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

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:00821910.9DCTN1, FUS, PFN1, NEFH, CHMP2B, VAPB
2carboxylic acid catabolic processGO:04639510.6PON1, PON3
3placenta developmentGO:00189010.5SOD1, ANG
4response to external stimulusGO:00960510.5PON1, PON3
5aromatic compound catabolic processGO:01943910.4PON1, PON3
6endoplasmic reticulum unfolded protein responseGO:03096810.2DCTN1, VCP, VAPB

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551510.9DCTN1, HNRNPA1, ANG, FIG4, VAPB, VCP
2protein homodimerization activityGO:04280310.7ERBB4, SQSTM1, PON1, PON3, SOD1, VAPB
3poly(A) RNA bindingGO:04482210.6TARDBP, HNRNPA1, VCP, PFN1, FUS
4aryldialkylphosphatase activityGO:00406310.6PON1, PON3
5arylesterase activityGO:00406410.5PON1, PON3
6identical protein bindingGO:04280210.5TARDBP, SQSTM1, VCP, SOD1, FUS
7structural molecule activityGO:00519810.2VAPB, PRPH, NEFH

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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet