ALS
MCID: AMY091
MIFTS: 78

Amyotrophic Lateral Sclerosis 1 (ALS) malady

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 1

Aliases & Descriptions for Amyotrophic Lateral Sclerosis 1:

Name: Amyotrophic Lateral Sclerosis 1 54 12 66 13 38 69
Amyotrophic Lateral Sclerosis 54 38 12 71 23 50 24 25 51 56 66 29 52 41 3 42 14 69
Als 12 71 50 24 25 56 66 3
Lou Gehrig's Disease 12 23 24 51 3
Amyotrophic Lateral Sclerosis Type 1 12 50 29 14
Lou Gehrig Disease 50 25 56 66
Charcot Disease 25 56 66
Als1 12 50 66
Motor Neuron Disease 66 69
Motor Neuron Disease, Amyotrophic Lateral Sclerosis 25
Amyotrophic Lateral Sclerosis with Dementia 25
Dementia with Amyotrophic Lateral Sclerosis 25
Familial Amyotrophic Lateral Sclerosis 66
Motor Neuron Disease, Bulbar 12
Fals 66
Mnd 66

Characteristics:

Orphanet epidemiological data:

56
amyotrophic lateral sclerosis
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (United States); Age of onset: Adult; Age of death: adult;

HPO:

32

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 105400
Disease Ontology 12 DOID:0060193 DOID:332
ICD10 33 G12.2 G12.21
ICD9CM 35 335.20
MeSH 42 D000690
NCIt 47 C34373
SNOMED-CT 64 86044005
Orphanet 56 ORPHA803
UMLS via Orphanet 70 C0002736
MESH via Orphanet 43 D000690
ICD10 via Orphanet 34 G12.2
UMLS 69 C0002736

Summaries for Amyotrophic Lateral Sclerosis 1

OMIM : 54 Amyotrophic lateral sclerosis is a neurodegenerative disorder characterized by the death of motor neurons in the brain,... (105400) more...

MalaCards based summary : Amyotrophic Lateral Sclerosis 1, also known as amyotrophic lateral sclerosis, is related to amyotrophic lateral sclerosis-parkinsonism/dementia complex and amyotrophic lateral sclerosis 8, and has symptoms including fatigue, dyspnea and pain. An important gene associated with Amyotrophic Lateral Sclerosis 1 is SOD1 (Superoxide Dismutase 1), and among its related pathways/superpathways are Amyotrophic lateral sclerosis (ALS) and Neuroscience. The drugs Riluzole and Mexiletine have been mentioned in the context of this disorder. Affiliated tissues include Bone and Limb, and related phenotypes are behavior/neurological and cellular

Disease Ontology : 12 A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.

Genetics Home Reference : 25 Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that control muscle movement. These nerve cells are found in the spinal cord and the brain. In ALS, motor neurons die (atrophy) over time, leading to muscle weakness, a loss of muscle mass, and an inability to control movement.

NIH Rare Diseases : 50 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, people become weaker and are eventually wheelchair-dependent. death often results from respiratory failure within 2 to 10 years after the symptoms begin. most people with als have a sporadic (not inherited) form of als. it is believed that these cases are caused by an interaction between genetic and environmental factors, meaning that there are people who are genetically predisposed to develop the disease and go on to develop als only after coming in contact with an environmental trigger. about 5-10% have a familial (inherited) form of the condition. familial als may be caused by mutations in any one of several genes and the pattern of inheritance varies depending on the gene involved. the average age at which symptoms begin is 56 years in the sporadic cases and 46 years in the familial cases. the goal of treatment is to improve the quality of life for people with als, by assisting with breathing, nutrition, mobility and communication. recently, the drug riluzole has been shown to slightly increase the lifespan of people who have als. last updated: 5/9/2017

MedlinePlus : 41 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 : 51 Amyotrophic lateral sclerosis (ALS) is a rapidly progressive, fatal disease that affects the nerve cells (neurons) in that brain and spinal cord that  control voluntary muscle movement.  Our voluntary muscles produce movements like walking, breathing, chewing, and talking.  Nerve cells called motor neurons--that connect from the brain and spinal cord to the rest of the body--begin to degenerate and die, and stop sending messages to muscles. The muscles gradually weaken, waste away, and twitch, and the brain can't start and control voluntary movement.  Symptoms are usually first noticed in the arms and hands, legs, or swallowing muscles.  People with ALS lose their strength and become unable to move their arms and legs, and to hold the body upright.  Some individuals eventually can't breathe on their own.  Although ALS doesn't usually impair a person's mind or personality, several recent studies suggest that some people with ALS may develop cognitive problems involving word fluency, decision-making, and memory.  Most cases of ALS happen with no known cause, while a small percentage of cases are inherited.  

UniProtKB/Swiss-Prot : 66 Amyotrophic lateral sclerosis: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

Wikipedia : 71 Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig\'s disease and motor neurone disease... more...

GeneReviews: NBK1450

Related Diseases for Amyotrophic Lateral Sclerosis 1

Diseases in the Juvenile Amyotrophic Lateral Sclerosis family:

Amyotrophic Lateral Sclerosis 2, Juvenile Amyotrophic Lateral Sclerosis 19
Amyotrophic Lateral Sclerosis 17 Amyotrophic Lateral Sclerosis 21
Amyotrophic Lateral Sclerosis 11 Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic Lateral Sclerosis 4, Juvenile Amyotrophic Lateral Sclerosis 12
Amyotrophic Lateral Sclerosis 20 Amyotrophic Lateral Sclerosis 9
Amyotrophic Lateral Sclerosis 5, Juvenile Amyotrophic Lateral Sclerosis 18
Amyotrophic Lateral Sclerosis 3 Amyotrophic Lateral Sclerosis 7
Amyotrophic Lateral Sclerosis 8 Amyotrophic Lateral Sclerosis 1
Amyotrophic Lateral Sclerosis Type 5 Amyotrophic Lateral Sclerosis Type 10
Amyotrophic Lateral Sclerosis Type 14 Tardbp-Related Amyotrophic Lateral Sclerosis
Als5-Related Amyotrophic Lateral Sclerosis Erbb4-Related Amyotrophic Lateral Sclerosis
Hnrnpa1-Related Amyotrophic Lateral Sclerosis Ang-Related Amyotrophic Lateral Sclerosis
Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis Fig4-Related Amyotrophic Lateral Sclerosis
Fus-Related Amyotrophic Lateral Sclerosis Optn-Related Amyotrophic Lateral Sclerosis
Pfn1-Related Amyotrophic Lateral Sclerosis Setx-Related Amyotrophic Lateral Sclerosis
Sigmar1-Related Amyotrophic Lateral Sclerosis Sod1-Related Amyotrophic Lateral Sclerosis
Sqstm1-Related Amyotrophic Lateral Sclerosis Vapb-Related Amyotrophic Lateral Sclerosis

Diseases related to Amyotrophic Lateral Sclerosis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
id Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis-parkinsonism/dementia complex 12.6
2 amyotrophic lateral sclerosis 8 12.6
3 amyotrophic lateral sclerosis 4, juvenile 12.5
4 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 12.4
5 juvenile amyotrophic lateral sclerosis with dementia 12.2
6 al amyloidosis 12.1
7 al-gazali syndrome 12.0
8 al-raqad syndrome 11.9
9 mousa al din al nassar syndrome 11.9
10 teebi naguib al awadi syndrome 11.8
11 lubani-al saleh-teebi syndrome 11.8
12 al gazali aziz salem syndrome 11.8
13 al gazali sabrinathan nair syndrome 11.8
14 al-gazali-donnai-mueller syndrome 11.7
15 lethal short limb skeletal dysplasia al gazali type 11.7
16 al gazali khidr prem chandran syndrome 11.7
17 multicentric osteolysis, nodulosis, and arthropathy 11.4
18 juvenile amyotrophic lateral sclerosis 11.3
19 sod1-related amyotrophic lateral sclerosis 11.1
20 long qt syndrome 5 10.8 ANG C9orf72 CHCHD10 CHMP2B DAO DCTN1
21 stereotypic movement disorder 10.7 ANG C9orf72 CHCHD10 CHMP2B DCTN1 FIG4
22 cardiomyopathy, dilated, 1u 10.6 C9orf72 CHCHD10 CHMP2B FUS HNRNPA1 SOD1
23 pancreatic cancer/melanoma syndrome 10.6 C9orf72 CHCHD10 CHMP2B FUS SQSTM1 TARDBP
24 pancreatic solid pseudopapillary carcinoma 10.6 C9orf72 CHCHD10 CHMP2B FUS SQSTM1 TARDBP
25 sting-associated vasculopathy, infantile-onset 10.6 C9orf72 FUS MATR3 OPTN SOD1 TARDBP
26 mucopolysaccharidosis iv 10.6 C9orf72 DCTN1 NEFH SOD1 SQSTM1 TARDBP
27 eumycotic mycetoma 10.6 C9orf72 CHCHD10 CHMP2B FUS SQSTM1 TARDBP
28 cogan-reese syndrome 10.6 FUS OPTN TARDBP UBQLN2 VAPB VCP
29 polymicrogyria, bilateral temporooccipital 10.6 ANG DAO FIG4 FUS OPTN TARDBP
30 cogan syndrome 10.6 ANG DAO FIG4 FUS OPTN TARDBP
31 amyotrophic lateral sclerosis 10, with or without ftd 10.6 ANG DAO FIG4 FUS OPTN TARDBP
32 retinitis pigmentosa 46 10.6 ANG DAO FIG4 FUS OPTN TARDBP
33 autism 18 10.6 ANG DAO FIG4 FUS OPTN TARDBP
34 andersen syndrome 10.6 C9orf72 CHMP2B SQSTM1 TARDBP VCP
35 adult mesenchymal chondrosarcoma 10.5 C9orf72 CHMP2B FUS TARDBP VCP
36 osteogenesis imperfecta, type vi 10.5 C9orf72 FUS SOD1 TARDBP
37 cerebroretinal vasculopathy 10.5 C9orf72 CHMP2B SQSTM1 VCP
38 severe congenital nemaline myopathy 10.5 C9orf72 CHMP2B TARDBP VCP
39 chorioamnionitis 10.5 C9orf72 SOD1 TARDBP UBQLN2
40 systemic lupus erythematous, association with 6 10.5 DAO FUS TARDBP
41 adrenal cortical adenoma 10.5 SQSTM1 TARDBP VCP
42 motor neuron disease 10.5
43 substance-induced psychosis 10.5 C9orf72 OPTN SOD1 TARDBP
44 mitochondrial dna depletion syndrome 3 10.5 C9orf72 DCTN1 TARDBP
45 myoclonic cerebellar dyssynergia 10.4 FUS TARDBP
46 bladder papillary transitional cell neoplasm 10.4 OPTN SQSTM1 VCP
47 dementia 10.4
48 cerebral arteritis 10.4 FUS TARDBP
49 phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency 10.4 DAO VAPB
50 pericardial tuberculosis 10.4 TARDBP VCP

Comorbidity relations with Amyotrophic Lateral Sclerosis 1 via Phenotypic Disease Network (PDN):


Acute Cystitis Motor Neuron Disease
Primary Lateral Sclerosis, Adult, 1 Protein-Energy Malnutrition
Respiratory Failure Swallowing Disorders

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis 1:



Diseases related to Amyotrophic Lateral Sclerosis 1

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 1

Symptoms by clinical synopsis from OMIM:

105400

Clinical features from OMIM:

105400

Human phenotypes related to Amyotrophic Lateral Sclerosis 1:

56 32 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 56 32 Frequent (79-30%) HP:0012378
2 dyspnea 56 32 Frequent (79-30%) HP:0002094
3 pain 56 32 Frequent (79-30%) HP:0012531
4 nausea and vomiting 56 32 Occasional (29-5%) HP:0002017
5 agitation 56 32 Occasional (29-5%) HP:0000713
6 generalized muscle weakness 56 32 Very frequent (99-80%) HP:0003324
7 emotional lability 56 32 Frequent (79-30%) HP:0000712
8 depression 56 32 Frequent (79-30%) HP:0000716
9 spasticity 56 32 Frequent (79-30%) HP:0001257
10 skeletal muscle atrophy 56 32 Frequent (79-30%) HP:0003202
11 anxiety 56 32 Frequent (79-30%) HP:0000739
12 amyotrophic lateral sclerosis 56 32 Obligate (100%) HP:0007354
13 neurodegeneration 56 32 Very frequent (99-80%) HP:0002180
14 xerostomia 56 32 Frequent (79-30%) HP:0000217
15 respiratory failure 56 32 Frequent (79-30%) HP:0002878
16 muscle cramps 56 32 Frequent (79-30%) HP:0003394
17 paralysis 56 32 Frequent (79-30%) HP:0003470
18 fatigable weakness of swallowing muscles 56 32 Frequent (79-30%) HP:0030195
19 fatigable weakness of respiratory muscles 56 32 Frequent (79-30%) HP:0030196
20 laryngeal obstruction 56 32 Occasional (29-5%) HP:0005945
21 muscle weakness 32 HP:0001324
22 hyperreflexia 32 HP:0001347
23 sleep apnea 32 HP:0010535
24 motor neuron atrophy 56 Very frequent (99-80%)
25 functional respiratory abnormality 56 Frequent (79-30%)
26 fatigable weakness of bulbar muscles 56 Frequent (79-30%)
27 fasciculations 32 HP:0002380
28 degeneration of anterior horn cells 32 HP:0002398
29 degeneration of the lateral corticospinal tracts 32 HP:0002314
30 pseudobulbar paralysis 32 HP:0007024

UMLS symptoms related to Amyotrophic Lateral Sclerosis 1:


back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, vertigo/dizziness, sleeplessness, ataxia, muscular fasciculation, hemiplegia, myoclonus, muscle cramp, muscle spasticity

MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 C9orf72 DAO DCTN1 FIG4 NEFH SOD1
2 cellular MP:0005384 9.65 C9orf72 DCTN1 MATR3 NEFH PON1 SOD1
3 nervous system MP:0003631 9.4 SOD1 SQSTM1 TARDBP VAPB VCP C9orf72

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 1

Drugs for Amyotrophic Lateral Sclerosis 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 296)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 1744-22-5 5070
2
Mexiletine Approved Phase 4,Phase 2 31828-71-4 4178
3
Armodafinil Approved, Investigational Phase 4 112111-43-0
4
Modafinil Approved, Investigational Phase 4 68693-11-8 4236
5 Anticonvulsants Phase 4,Phase 2,Phase 3
6 Excitatory Amino Acid Antagonists Phase 4,Phase 2,Phase 3
7 Excitatory Amino Acids Phase 4,Phase 2,Phase 3
8 Neuroprotective Agents Phase 4,Phase 2,Phase 3,Phase 1
9 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
10 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1
11 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2
12 Diuretics, Potassium Sparing Phase 4,Phase 3,Phase 2
13 Sodium Channel Blockers Phase 4,Phase 3,Phase 2
14 Central Nervous System Stimulants Phase 4,Phase 1
15 Cytochrome P-450 CYP3A Inducers Phase 4
16 Wakefulness-Promoting Agents Phase 4
17
Olanzapine Approved, Investigational Phase 2, Phase 3 132539-06-1 4585
18
Lenograstim Approved Phase 2, Phase 3 135968-09-1
19
Dopamine Approved Phase 2, Phase 3, Phase 1 51-61-6, 62-31-7 681
20
Memantine Approved, Investigational Phase 2, Phase 3 19982-08-2 4054
21
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 11953898 5460373 44475014
22
Antipyrine Approved Phase 3 60-80-0 2206
23
Zinc Approved Phase 3,Phase 1,Phase 2 7440-66-6 32051 23994
24
Minocycline Approved, Investigational Phase 3,Phase 2 10118-90-8 5281021
25
Pramipexole Approved, Investigational Phase 3,Phase 1,Phase 2 104632-26-0 59868 119570
26
Valproic Acid Approved, Investigational Phase 3 99-66-1 3121
27
Acetylcholine Approved Phase 2, Phase 3 51-84-3 187
28
Ceftriaxone Approved Phase 3 73384-59-5 5479530 5361919
29
Dextromethorphan Approved Phase 3,Phase 2 125-71-3 5360696 5362449
30
Guaifenesin Approved, Vet_approved Phase 3,Phase 2 93-14-1 3516
31
Quinidine Approved Phase 3,Phase 2 56-54-2 441074
32
Citalopram Approved Phase 3 59729-33-8 2771
33
Creatine Approved, Nutraceutical Phase 3,Phase 2 57-00-1 586
34
Cyanocobalamin Approved, Nutraceutical Phase 2, Phase 3 68-19-9 44176380
35
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 1 59-30-3 6037
36
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
37 Antiemetics Phase 2, Phase 3
38 Antipsychotic Agents Phase 2, Phase 3
39 Autonomic Agents Phase 2, Phase 3, Phase 1
40 Central Nervous System Depressants Phase 2, Phase 3, Phase 1
41 Gastrointestinal Agents Phase 2, Phase 3,Phase 1
42 Neurotransmitter Uptake Inhibitors Phase 2, Phase 3, Early Phase 1
43 Peripheral Nervous System Agents Phase 2, Phase 3, Phase 1, Early Phase 1
44 Psychotropic Drugs Phase 2, Phase 3, Phase 1, Early Phase 1
45
Serotonin Phase 2, Phase 3, Early Phase 1 50-67-9 5202
46 Serotonin Agents Phase 2, Phase 3, Early Phase 1
47 Serotonin Uptake Inhibitors Phase 2, Phase 3, Early Phase 1
48 Tranquilizing Agents Phase 2, Phase 3, Phase 1
49 Superoxide Dismutase Phase 2, Phase 3,Phase 1
50 Antioxidants Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 391)
id Name Status NCT ID Phase
1 Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis Unknown status NCT00560287 Phase 4
2 CARE Canadian ALS Riluzole Evaluation Completed NCT00542412 Phase 4
3 Mexiletine for the Treatment of Muscle Cramps in ALS Completed NCT01811355 Phase 4
4 Feasibility of Telesurveillance and Home Cough Assistance for Amyotrophic Lateral Patients (ALS) Completed NCT00613899 Phase 4
5 Modafinil for Treatment of Fatigue in ALS Patients Completed NCT00614926 Phase 4
6 Olanzapine for the Treatment of Appetite Loss in Amyotrophic Lateral Sclerosis (ALS) Unknown status NCT00876772 Phase 2, Phase 3
7 Study of Creatine Monohydrate in Patients With Amyotrophic Lateral Sclerosis Unknown status NCT00069186 Phase 3
8 Phase II/III Randomized, Placebo-controlled Trial of Arimoclomol in SOD1 Positive Familial Amyotrophic Lateral Sclerosis Unknown status NCT00706147 Phase 2, Phase 3
9 The Objective is to Compare the Efficacy and Safety of Masitinib in Combination With Riluzole in the Treatment of Patients Suffering From Amyotrophic Lateral Sclerosis (ALS) Completed NCT02588677 Phase 2, Phase 3
10 Memantine for Disability in Amyotrophic Lateral Sclerosis (MEDALS) Completed NCT00353665 Phase 2, Phase 3
11 A Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00444613 Phase 2, Phase 3
12 Phase 3 Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis Completed NCT01492686 Phase 3
13 Insulin-like Growth Factor-1 in Amyotrophic Lateral Sclerosis (ALS) Trial Completed NCT00035815 Phase 3
14 Expanded Controlled Study of Safety and Efficacy of MCI-186 in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00424463 Phase 3
15 Efficacy and Safety Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis (ALS) Completed NCT00330681 Phase 3
16 Efficacy and Safety Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis (ALS) Who Met Severity Classification III Completed NCT00415519 Phase 3
17 Safety and Efficacy of TRO19622 as add-on Therapy to Riluzole Versus Placebo in Treatment of Patients Suffering From Amyotrophic Lateral Sclerosis (ALS) Completed NCT00868166 Phase 2, Phase 3
18 Minocycline to Treat Amyotrophic Lateral Sclerosis Completed NCT00047723 Phase 3
19 The Effect of GCSF in the Treatment of ALS Patients Completed NCT01825551 Phase 2, Phase 3
20 Phase 3 Study of Dexpramipexole in ALS Completed NCT01281189 Phase 3
21 Repetitive Transcranial Magnetic Stimulation (rTMS) in Amyotrophic Lateral Sclerosis Completed NCT00833820 Phase 2, Phase 3
22 Effect of Intrathecal Administration of Hematopoietic Stem Cells in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT01933321 Phase 2, Phase 3
23 Trial of Sodium Valproate in Amyotrophic Lateral Sclerosis Completed NCT00136110 Phase 3
24 Clinical Trial of Vitamin E to Treat Muscular Cramps in Patients With ALS Completed NCT00372879 Phase 3
25 Study of Dopamine and Serotonin Transporters in Patients With Amyotrophic Lateral Sclerosis and Controls Completed NCT01160263 Phase 3
26 Study of Myobloc in the Treatment of Sialorrhea (Drooling) in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00125203 Phase 2, Phase 3
27 Clinical Trial Ceftriaxone in Subjects With ALS Completed NCT00349622 Phase 3
28 Safety Extension Study of TRO19622 in ALS Completed NCT01285583 Phase 2, Phase 3
29 Safety/Efficacy of AVP-923 in the Treatment of Emotional Lability (Uncontrolled Crying & Laughing) in Patients With ALS Completed NCT00021697 Phase 3
30 Safety and Efficacy of AVP-923 in PBA Patients With ALS or MS Completed NCT00573443 Phase 3
31 Noninvasive Ventilation in ALS Patients With Mild Respiratory Involvement Completed NCT00386464 Phase 2, Phase 3
32 Escitalopram (Lexapro) for Depression MS or ALS Completed NCT00965497 Phase 3
33 Safety and Efficacy on Spasticity Symptoms of a Cannabis Sativa Extract in Motor Neuron Disease Completed NCT01776970 Phase 2, Phase 3
34 Efficacy and Safety Study of MYOBLOC® Followed by Open-Label Multiple-Treatment With MYOBLOC® in the Treatment of Troublesome Sialorrhea in Adult Subjects Completed NCT01994109 Phase 3
35 Determination and Comparison of Short-term Effectiveness of Three Methods Used for Recognition of Arrhythmias in People With Different Degrees of Medical Training (Advanced Life Support Workshop Participants-ALS): Randomized Controlled Educational Experim Recruiting NCT02664779 Phase 3
36 A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Active, not recruiting NCT00445172 Phase 2, Phase 3
37 Ventilatory Investigation of Tirasemtiv and Assessment of Longitudinal Indices After Treatment for a Year Active, not recruiting NCT02496767 Phase 3
38 Efficacy of Riluzole in Surgical Treatment for Cervical Spondylotic Myelopathy (CSM-Protect) Active, not recruiting NCT01257828 Phase 3
39 A Study for Patients Who Completed VITALITY-ALS (CY 4031) Enrolling by invitation NCT02936635 Phase 3
40 Phase 3 Study to Compare the Efficacy and Safety of Masitinib Versus Placebo in the Treatment of ALS Patients Not yet recruiting NCT03127267 Phase 3
41 Study to Investigate the Safety and Efficacy of Lithium in Volunteers With Amyotrophic Lateral Sclerosis (ALS) Terminated NCT00818389 Phase 2, Phase 3
42 Phase 3 Extension Study of Dexpramipexole in ALS Terminated NCT01622088 Phase 3
43 Early Stage Amyotrophic Lateral Sclerosis Phrenic Stimulation Terminated NCT01583088 Phase 3
44 Safety and Tolerability of the Ketogenic Diet in Amyotrophic Lateral Sclerosis (ALS) Terminated NCT01016522 Phase 3
45 Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders Terminated NCT00839033 Phase 3
46 Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS) Terminated NCT00211224 Phase 3
47 Dose Escalation and Safety Study of Human Spinal Cord Derived Neural Stem Cell Transplantation for the Treatment of Amyotrophic Lateral Sclerosis Unknown status NCT01730716 Phase 2
48 Cistanche Total Glycosides for Amyotrophic Lateral Sclerosis: A Randomized Control Trial (RCT) Study Assessing Clinical Response Unknown status NCT00753571 Phase 2
49 Safety and Tolerability of Anakinra in Combination With Riluzol in Amyotrophic Lateral Sclerosis Unknown status NCT01277315 Phase 2
50 Efficacy and Safety of YAM80 in Amyotrophic Lateral Sclerosis (ALS) Unknown status NCT00886977 Phase 2

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis 1

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Amyotrophic Lateral Sclerosis 1 cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: amyotrophic lateral sclerosis

Genetic Tests for Amyotrophic Lateral Sclerosis 1

Genetic tests related to Amyotrophic Lateral Sclerosis 1:

id Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis 29 24 VCP
2 Amyotrophic Lateral Sclerosis Type 1 29

Anatomical Context for Amyotrophic Lateral Sclerosis 1

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 1:

39
Spinal Cord, Brain, Skeletal Muscle, Bone, Bone Marrow
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Amyotrophic Lateral Sclerosis 1:
id Tissue Anatomical CompartmentCell Relevance
1 Bone Bone Marrow Bone Marrow Stromal Cells Potential therapeutic candidate
2 Limb Pelvic Girdle Bone Marrow Stromal Cells Potential therapeutic candidate
3 Brain Forebrain White Matter Fibrous Astrocyte Cells Potential therapeutic candidate
4 Spinal Cord Spinal Cord White Matter Fibrous Astrocyte Cells Potential therapeutic candidate
5 Adipose Subcutaneous White Adipose Mesenchymal Stem Cells Potential therapeutic candidate
6 Neural Tube Motor Neural Progenitor Domain Motor Neural Progenitor Cells Potential therapeutic candidate
7 Neural Tube Motor Neural Progenitor Domain Motor Neurons Affected by disease
8 Brain Forebrain White Matter Myelinating Oligodendrocyte Cells Affected by disease
9 Spinal Cord Spinal Cord White Matter Myelinating Oligodendrocyte Cells Affected by disease
10 Spinal Cord Spinal Cord Grey Matter Protoplasmic Astrocyte Cells Potential therapeutic candidate
11 Brain Neocortex Protoplasmic Astrocyte Cells Potential therapeutic candidate
12 Adipose Subcutaneous White Adipose Stromal Cells Potential therapeutic candidate
13 Spinal Cord Spinal Cord White Matter VA1 Fibrous Astrocyte Cells Potential therapeutic candidate
14 Spinal Cord Spinal Cord White Matter VA2 Fibrous Astrocyte Cells Potential therapeutic candidate
15 Spinal Cord Spinal Cord White Matter VA3 Fibrous Astrocyte Cells Potential therapeutic candidate

Publications for Amyotrophic Lateral Sclerosis 1

Articles related to Amyotrophic Lateral Sclerosis 1:

id Title Authors Year
1
Epidemiology of amyotrophic lateral sclerosis: 1. A case-control comparison based on ALS deaths. ( 7189251 )
1980

Variations for Amyotrophic Lateral Sclerosis 1

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 1:

66 (show top 50) (show all 82)
id Symbol AA change Variation ID SNP ID
1 DCTN1 p.Met571Thr VAR_063872 rs121909343
2 DCTN1 p.Arg785Trp VAR_063873 rs121909344
3 DCTN1 p.Arg1101Lys VAR_063874 rs121909345
4 SOD1 p.Ala5Thr VAR_007130 rs121912444
5 SOD1 p.Ala5Val VAR_007131 rs121912442
6 SOD1 p.Val8Glu VAR_007132
7 SOD1 p.Val15Met VAR_007133
8 SOD1 p.Gly17Ser VAR_007134 rs121912453
9 SOD1 p.Glu22Lys VAR_007135 rs121912450
10 SOD1 p.Gly38Arg VAR_007136 rs121912431
11 SOD1 p.Leu39Val VAR_007137 rs121912432
12 SOD1 p.Gly42Ser VAR_007138 rs121912433
13 SOD1 p.Gly42Asp VAR_007139 rs121912434
14 SOD1 p.His44Arg VAR_007140 rs121912435
15 SOD1 p.His47Arg VAR_007141 rs121912443
16 SOD1 p.His49Gln VAR_007142
17 SOD1 p.Leu85Val VAR_007143 rs121912452
18 SOD1 p.Gly86Arg VAR_007144 rs121912436
19 SOD1 p.Asp91Ala VAR_007145 rs80265967
20 SOD1 p.Gly94Ala VAR_007146 rs121912438
21 SOD1 p.Gly94Cys VAR_007147 rs121912437
22 SOD1 p.Gly94Asp VAR_007148
23 SOD1 p.Gly94Arg VAR_007149 rs121912437
24 SOD1 p.Glu101Gly VAR_007150 rs121912439
25 SOD1 p.Asp102Gly VAR_007151
26 SOD1 p.Asp102Asn VAR_007152
27 SOD1 p.Leu107Val VAR_007153 rs121912440
28 SOD1 p.Ile113Thr VAR_007154 rs74315452
29 SOD1 p.Ile114Thr VAR_007155 rs121912441
30 SOD1 p.Arg116Gly VAR_007156
31 SOD1 p.Asp126His VAR_007157
32 SOD1 p.Ser135Asn VAR_007158 rs121912451
33 SOD1 p.Asn140Lys VAR_007159
34 SOD1 p.Leu145Phe VAR_007160
35 SOD1 p.Val149Gly VAR_007161
36 SOD1 p.Val149Ile VAR_007162 rs567511139
37 SOD1 p.Ile150Thr VAR_007163
38 SOD1 p.Ile152Thr VAR_007164 rs121912449
39 SOD1 p.Cys7Phe VAR_008717 rs121912448
40 SOD1 p.Gly73Ser VAR_008718 rs121912455
41 SOD1 p.Gly94Val VAR_008719
42 SOD1 p.Ile105Phe VAR_008720 rs121912445
43 SOD1 p.Asp125Val VAR_008722
44 SOD1 p.Leu145Ser VAR_008724 rs121912446
45 SOD1 p.Ala146Thr VAR_008725 rs121912447
46 SOD1 p.Ala5Ser VAR_013518
47 SOD1 p.Leu9Gln VAR_013519
48 SOD1 p.Leu9Val VAR_013520
49 SOD1 p.Gly13Arg VAR_013521 rs121912456
50 SOD1 p.Val15Gly VAR_013522

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 1:

6 (show all 33)
id Gene Variation Type Significance SNP ID Assembly Location
1 SOD1 NM_000454.4(SOD1): c.112G> A (p.Gly38Arg) single nucleotide variant Pathogenic rs121912431 GRCh37 Chromosome 21, 33036142: 33036142
2 SOD1 NM_000454.4(SOD1): c.115C> G (p.Leu39Val) single nucleotide variant Pathogenic rs121912432 GRCh37 Chromosome 21, 33036145: 33036145
3 SOD1 NM_000454.4(SOD1): c.124G> A (p.Gly42Ser) single nucleotide variant Pathogenic rs121912433 GRCh37 Chromosome 21, 33036154: 33036154
4 SOD1 NM_000454.4(SOD1): c.125G> A (p.Gly42Asp) single nucleotide variant Pathogenic rs121912434 GRCh37 Chromosome 21, 33036155: 33036155
5 SOD1 NM_000454.4(SOD1): c.131A> G (p.His44Arg) single nucleotide variant Pathogenic rs121912435 GRCh37 Chromosome 21, 33036161: 33036161
6 SOD1 NM_000454.4(SOD1): c.319C> G (p.Leu107Val) single nucleotide variant Pathogenic rs121912440 GRCh37 Chromosome 21, 33039650: 33039650
7 SOD1 NM_000454.4(SOD1): c.256G> C (p.Gly86Arg) single nucleotide variant Pathogenic rs121912436 GRCh37 Chromosome 21, 33039587: 33039587
8 SOD1 NM_000454.4(SOD1): c.280G> T (p.Gly94Cys) single nucleotide variant Pathogenic rs121912437 GRCh37 Chromosome 21, 33039611: 33039611
9 SOD1 NM_000454.4(SOD1): c.281G> C (p.Gly94Ala) single nucleotide variant Pathogenic rs121912438 GRCh37 Chromosome 21, 33039612: 33039612
10 SOD1 NM_000454.4(SOD1): c.302A> G (p.Glu101Gly) single nucleotide variant Pathogenic rs121912439 GRCh37 Chromosome 21, 33039633: 33039633
11 SOD1 NM_000454.4(SOD1): c.338T> C (p.Ile113Thr) single nucleotide variant Pathogenic rs74315452 GRCh37 Chromosome 21, 33039669: 33039669
12 SOD1 NM_000454.4(SOD1): c.14C> T (p.Ala5Val) single nucleotide variant Pathogenic rs121912442 GRCh37 Chromosome 21, 33032096: 33032096
13 SOD1 NM_000454.4(SOD1): c.140A> G (p.His47Arg) single nucleotide variant Pathogenic rs121912443 GRCh37 Chromosome 21, 33036170: 33036170
14 SOD1 NM_000454.4(SOD1): c.13G> A (p.Ala5Thr) single nucleotide variant Pathogenic rs121912444 GRCh37 Chromosome 21, 33032095: 33032095
15 SOD1 NM_000454.4(SOD1): c.434T> C (p.Leu145Ser) single nucleotide variant Pathogenic rs121912446 GRCh37 Chromosome 21, 33040860: 33040860
16 SOD1 NM_000454.4(SOD1): c.436G> A (p.Ala146Thr) single nucleotide variant Pathogenic rs121912447 GRCh37 Chromosome 21, 33040862: 33040862
17 SOD1 SOD1, IVS4AS, T-G, -10 single nucleotide variant Pathogenic
18 SOD1 NM_000454.4(SOD1): c.20G> T (p.Cys7Phe) single nucleotide variant Pathogenic rs121912448 GRCh37 Chromosome 21, 33032102: 33032102
19 SOD1 NM_000454.4(SOD1): c.455T> C (p.Ile152Thr) single nucleotide variant Pathogenic rs121912449 GRCh37 Chromosome 21, 33040881: 33040881
20 SOD1 NM_000454.4(SOD1): c.64G> A (p.Glu22Lys) single nucleotide variant Pathogenic rs121912450 GRCh37 Chromosome 21, 33032146: 33032146
21 SOD1 NM_000454.4(SOD1): c.404G> A (p.Ser135Asn) single nucleotide variant Pathogenic rs121912451 GRCh37 Chromosome 21, 33040830: 33040830
22 SOD1 NM_000454.4(SOD1): c.253T> G (p.Leu85Val) single nucleotide variant Pathogenic rs121912452 GRCh37 Chromosome 21, 33039584: 33039584
23 SOD1 NM_000454.4(SOD1): c.49G> A (p.Gly17Ser) single nucleotide variant Pathogenic rs121912453 GRCh37 Chromosome 21, 33032131: 33032131
24 SOD1 NM_000454.4(SOD1): c.380T> A (p.Leu127Ter) single nucleotide variant Pathogenic rs121912454 GRCh37 Chromosome 21, 33040806: 33040806
25 SOD1 SOD1, IVS4AS, A-G, -11 single nucleotide variant Pathogenic
26 SOD1 NM_000454.4(SOD1): c.217G> A (p.Gly73Ser) single nucleotide variant Pathogenic rs121912455 GRCh37 Chromosome 21, 33038809: 33038809
27 SOD1 NM_000454.4(SOD1): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic rs121912456 GRCh37 Chromosome 21, 33032119: 33032119
28 SOD1 NM_000454.4(SOD1): c.137T> G (p.Phe46Cys) single nucleotide variant Pathogenic rs121912457 GRCh37 Chromosome 21, 33036167: 33036167
29 SOD1 NM_000454.4(SOD1): c.242A> G (p.His81Arg) single nucleotide variant Pathogenic rs121912458 GRCh37 Chromosome 21, 33039573: 33039573
30 SOD1 NM_000454.4(SOD1): c.280G> C (p.Gly94Arg) single nucleotide variant Pathogenic rs121912437 GRCh37 Chromosome 21, 33039611: 33039611
31 SOD1 SOD1, 6-BP DEL, GGACCA deletion Pathogenic
32 SOD1 SOD1, IVS4AS, C-G, -304 single nucleotide variant Pathogenic
33 SOD1 NM_000454.4(SOD1): c.341T> C (p.Ile114Thr) single nucleotide variant Pathogenic rs121912441 GRCh37 Chromosome 21, 33039672: 33039672

Copy number variations for Amyotrophic Lateral Sclerosis 1 from CNVD:

7 (show top 50) (show all 272)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13850 1 10015602 10163883 Deletion UBE4B Amyotrophic lateral sclerosis
2 38070 1 9912362 9925413 Deletion LZIC Amyotrophic lateral sclerosis
3 38081 1 9926072 9968143 Deletion NMNAT1 Amyotrophic lateral sclerosis
4 38110 1 9979860 9998665 Deletion RBP7 Amyotrophic lateral sclerosis
5 38787 10 105052542 105100881 Duplication PCGF6 Amyotrophic lateral sclerosis
6 38794 10 105117713 105138812 Deletion,duplication TAF5 Amyotrophic lateral sclerosis
7 38801 10 105138803 105146213 Deletion,duplication USMG5 Amyotrophic lateral sclerosis
8 38806 10 105146401 105196009 Deletion,duplication PDCD11 Amyotrophic lateral sclerosis
9 38819 10 105196536 105202065 Deletion,duplication CALHM2 Amyotrophic lateral sclerosis
10 38825 10 105222550 105228987 Deletion,duplication CALHM3 Amyotrophic lateral sclerosis
11 38829 10 105244037 105342293 Duplication NEURL Amyotrophic lateral sclerosis
12 38887 10 105717459 105777332 Deletion SLK Amyotrophic lateral sclerosis
13 38957 10 106390848 107014983 Duplication SORCS3 Amyotrophic lateral sclerosis
14 39675 10 11824361 11846071 Duplication ECHDC3 Amyotrophic lateral sclerosis
15 41384 10 17311303 17319598 Deletion VIM Amyotrophic lateral sclerosis
16 41389 10 17402681 17536260 Deletion ST8SIA6 Amyotrophic lateral sclerosis
17 44175 10 53125251 53129361 Duplication CSTF2T Amyotrophic lateral sclerosis
18 46555 10 82021555 82039414 Duplication MAT1A Amyotrophic lateral sclerosis
19 46560 10 82085841 82106480 Duplication DYDC1 Amyotrophic lateral sclerosis
20 46567 10 82106537 82117809 Duplication DYDC2 Amyotrophic lateral sclerosis
21 46573 10 82158221 82182733 Duplication C10orf58 Amyotrophic lateral sclerosis
22 46577 10 82204017 82272371 Duplication TSPAN14 Amyotrophic lateral sclerosis
23 47201 10 90414073 90428552 Duplication LIPF Amyotrophic lateral sclerosis
24 47210 10 90474280 90502493 Duplication LIPK Amyotrophic lateral sclerosis
25 47701 10 96786518 96819244 Duplication CYP2C8 Amyotrophic lateral sclerosis
26 47721 10 96943946 96978675 Duplication C10orf129 Amyotrophic lateral sclerosis
27 47727 10 96987319 97040771 Duplication PDLIM1 Amyotrophic lateral sclerosis
28 51047 11 122214464 122248557 Duplication CRTAM Amyotrophic lateral sclerosis
29 51746 11 130250975 130291592 Duplication SNX19 Amyotrophic lateral sclerosis
30 52817 11 20342262 20345776 Duplication HTATIP2 Amyotrophic lateral sclerosis
31 52820 11 20365678 20487349 Duplication PRMT3 Amyotrophic lateral sclerosis
32 53960 11 35409951 35503752 Deletion DKFZP586H2123 Amyotrophic lateral sclerosis
33 54765 11 47247774 47308158 Deletion MADD Amyotrophic lateral sclerosis
34 58676 11 69165053 69178423 Duplication CCND1 Amyotrophic lateral sclerosis
35 61192 11 95763461 95766375 Duplication JRKL Amyotrophic lateral sclerosis
36 62870 12 112079360 112107667 Deletion DDX54 Amyotrophic lateral sclerosis
37 62876 12 112107937 112114502 Deletion C12orf52 Amyotrophic lateral sclerosis
38 62877 12 112117628 112143263 Deletion IQCD Amyotrophic lateral sclerosis
39 62881 12 112143651 112218317 Deletion TPCN1 Amyotrophic lateral sclerosis
40 63147 12 114880763 115199526 Deletion MED13L Amyotrophic lateral sclerosis
41 63427 12 118607980 118799475 Duplication CIT Amyotrophic lateral sclerosis
42 63663 12 120055060 120108241 Duplication P2RX7 Amyotrophic lateral sclerosis
43 65019 12 14656842 14740696 Deletion GUCY2C Amyotrophic lateral sclerosis
44 65031 12 14814920 14815332 Deletion HIST4H4 Amyotrophic lateral sclerosis
45 65033 12 14818536 14822203 Deletion H2AFJ Amyotrophic lateral sclerosis
46 65036 12 14830678 14847668 Deletion WBP11 Amyotrophic lateral sclerosis
47 65317 12 15664341 15833601 Deletion EPS8 Amyotrophic lateral sclerosis
48 65332 12 15926554 15947677 Deletion Strap Amyotrophic lateral sclerosis
49 65337 12 15955452 16081582 Deletion DERA Amyotrophic lateral sclerosis
50 65486 12 18125069 18134381 Duplication RERGL Amyotrophic lateral sclerosis

Expression for Amyotrophic Lateral Sclerosis 1

LifeMap Discovery
Genes differentially expressed in tissues of Amyotrophic Lateral Sclerosis 1 patients vs. healthy controls: 35 (show all 14)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1 ACTN3 actinin, alpha 3 (gene/pseudogene) Skeletal Muscle - 5.49 0.000
2 MYH8 myosin, heavy chain 8, skeletal muscle, perinatal Skeletal Muscle + 3.89 0.000
3 PRUNE2 prune homolog 2 (Drosophila) Skeletal Muscle + 3.83 0.001
4 CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle) Skeletal Muscle + 3.82 0.000
5 COL19A1 collagen, type XIX, alpha 1 Skeletal Muscle + 3.77 0.000
6 LRRK2 leucine-rich repeat kinase 2 Skeletal Muscle + 3.67 0.001
7 FST follistatin Skeletal Muscle + 3.47 0.001
8 CERKL ceramide kinase-like Skeletal Muscle + 3.46 0.000
9 RMDN2 regulator of microtubule dynamics 2 Skeletal Muscle + 3.44 0.005
10 MYLK2 myosin light chain kinase 2 Skeletal Muscle - 3.27 0.009
11 MUSK muscle, skeletal, receptor tyrosine kinase Skeletal Muscle + 3.22 0.001
12 HOXC10 homeobox C10 Skeletal Muscle - 3.22 0.000
13 SESN3 sestrin 3 Skeletal Muscle + 3.19 0.007
14 CPNE8 copine VIII Skeletal Muscle + 3.06 0.001
Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 1.

Pathways for Amyotrophic Lateral Sclerosis 1

Pathways related to Amyotrophic Lateral Sclerosis 1 according to KEGG:

37
id Name Kegg Source Accession
1 Amyotrophic lateral sclerosis (ALS) hsa05014

Pathways related to Amyotrophic Lateral Sclerosis 1 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.97 DCTN1 NEFH SOD1 TARDBP
2
Show member pathways
11.19 NEFH PRPH SOD1
3
Show member pathways
10.83 DCTN1 NEFH PRPH

GO Terms for Amyotrophic Lateral Sclerosis 1

Cellular components related to Amyotrophic Lateral Sclerosis 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.56 C9orf72 CHMP2B SOD1 SQSTM1
2 endosome GO:0005768 9.55 C9orf72 CHMP2B FIG4 OPTN SQSTM1
3 cytoplasmic vesicle GO:0031410 9.43 ANG C9orf72 OPTN SOD1 SQSTM1 UBQLN2
4 autophagosome GO:0005776 8.92 C9orf72 OPTN SQSTM1 UBQLN2

Biological processes related to Amyotrophic Lateral Sclerosis 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 macroautophagy GO:0016236 9.43 CHMP2B OPTN SQSTM1
2 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.16 OPTN SQSTM1
3 autophagy GO:0006914 9.1 C9orf72 CHMP2B OPTN SQSTM1 UBQLN2 VCP
4 neurofilament cytoskeleton organization GO:0060052 8.96 NEFH SOD1

Molecular functions related to Amyotrophic Lateral Sclerosis 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.55 ANG C9orf72 CHMP2B DAO DCTN1 FIG4
2 identical protein binding GO:0042802 9.43 FUS OPTN SOD1 SQSTM1 TARDBP VCP
3 polyubiquitin binding GO:0031593 9.32 OPTN VCP
4 dynein complex binding GO:0070840 9.26 DCTN1 NEFH
5 K63-linked polyubiquitin binding GO:0070530 9.16 OPTN SQSTM1

Sources for Amyotrophic Lateral Sclerosis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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