ALS1
MCID: AMY091
MIFTS: 88

Amyotrophic Lateral Sclerosis 1 (ALS1)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 1

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 1:

Name: Amyotrophic Lateral Sclerosis 1 57 12 72 13 37 70
Amyotrophic Lateral Sclerosis 57 12 73 25 20 43 53 58 72 36 29 54 6 42 3 15 17 70
Amyotrophic Lateral Sclerosis Type 1 12 20 29 6 15
Lou Gehrig Disease 25 20 43 58 72
Als 12 20 43 58 72
Charcot Disease 20 43 58 72
Als1 57 12 20 72
Amyotrophic Lateral Sclerosis, Susceptibility to 57 29 6
Lou Gehrig's Disease 12 73 53
Familial Amyotrophic Lateral Sclerosis 72 17
Motor Neuron Disease 72 70
Fals 57 72
Mnd 20 72
Amyotrophic Lateral Sclerosis 1, Autosomal Dominant 57
Motor Neuron Disease, Amyotrophic Lateral Sclerosis 43
Amyotrophic Lateral Sclerosis 1, Familial; Fals 57
Amyotrophic Lateral Sclerosis with Dementia 43
Dementia with Amyotrophic Lateral Sclerosis 43
Amyotrophic Lateral Sclerosis 1, Familial 57
Sclerosis, Lateral, Amyotrophic, Type 1 39
Sclerosis, Lateral, Amyotrophic 39
Motor Neuron Disease, Bulbar 12
Motor Neurone Disease 20

Characteristics:

Orphanet epidemiological data:

58
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;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
genetic heterogeneity
approximately 10% of als cases are familial


HPO:

31

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060193 DOID:332
OMIM® 57 105400
OMIM Phenotypic Series 57 PS105400
KEGG 36 H00058
ICD9CM 34 335.20
MeSH 44 D000690
NCIt 50 C34373
SNOMED-CT 67 86044005
ICD10 32 G12.2 G12.21
MESH via Orphanet 45 D000690
ICD10 via Orphanet 33 G12.2
UMLS via Orphanet 71 C0002736
Orphanet 58 ORPHA803
UMLS 70 C0002736 C0085084 C1862939

Summaries for Amyotrophic Lateral Sclerosis 1

MedlinePlus Genetics : 43 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.There are many different types of ALS; these types are distinguished by their signs and symptoms and their genetic cause or lack of clear genetic association. Most people with ALS have a form of the condition that is described as sporadic, which means it occurs in people with no apparent history of the disorder in their family. People with sporadic ALS usually first develop features of the condition in their late fifties or early sixties. A small proportion of people with ALS, estimated at 5 to 10 percent, have a family history of ALS or a related condition called frontotemporal dementia (FTD), which is a progressive brain disorder that affects personality, behavior, and language. The signs and symptoms of familial ALS typically first appear in one's late forties or early fifties. Rarely, people with familial ALS develop symptoms in childhood or their teenage years. These individuals have a rare form of the disorder known as juvenile ALS.The first signs and symptoms of ALS may be so subtle that they are overlooked. The earliest symptoms include muscle twitching, cramping, stiffness, or weakness. Affected individuals may develop slurred speech (dysarthria) and, later, difficulty chewing or swallowing (dysphagia). Many people with ALS experience malnutrition because of reduced food intake due to dysphagia and an increase in their body's energy demands (metabolism) due to prolonged illness. Muscles become weaker as the disease progresses, and arms and legs begin to look thinner as muscle tissue atrophies. Individuals with ALS eventually lose muscle strength and the ability to walk. Affected individuals eventually become wheelchair-dependent and increasingly require help with personal care and other activities of daily living. Over time, muscle weakness causes affected individuals to lose the use of their hands and arms. Breathing becomes difficult because the muscles of the respiratory system weaken. Most people with ALS die from respiratory failure within 2 to 10 years after the signs and symptoms of ALS first appear; however, disease progression varies widely among affected individuals.Approximately 20 percent of individuals with ALS also develop FTD. Changes in personality and behavior may make it difficult for affected individuals to interact with others in a socially appropriate manner. Communication skills worsen as the disease progresses. It is unclear how the development of ALS and FTD are related. Individuals who develop both conditions are diagnosed as having ALS-FTD.A rare form of ALS that often runs in families is known as ALS-parkinsonism-dementia complex (ALS-PDC). This disorder is characterized by the signs and symptoms of ALS, in addition to a pattern of movement abnormalities known as parkinsonism, and a progressive loss of intellectual function (dementia). Signs of parkinsonism include unusually slow movements (bradykinesia), stiffness, and tremors. Affected members of the same family can have different combinations of signs and symptoms.

MalaCards based summary : Amyotrophic Lateral Sclerosis 1, also known as amyotrophic lateral sclerosis, is related to frontotemporal dementia and/or amyotrophic lateral sclerosis 1 and amyotrophic lateral sclerosis 10 with or without frontotemporal dementia, and has symptoms including seizures, ataxia and tremor. An important gene associated with Amyotrophic Lateral Sclerosis 1 is SOD1 (Superoxide Dismutase 1), and among its related pathways/superpathways are Amyotrophic lateral sclerosis and Pathways of neurodegeneration - multiple diseases. The drugs Mexiletine and Olanzapine have been mentioned in the context of this disorder. Affiliated tissues include Bone and Limb, and related phenotypes are amyotrophic lateral sclerosis and generalized muscle weakness

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.

GARD : 20 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 that are distinguished by symptoms and, in some cases, genetic cause. Early symptoms may include muscle twitching, cramping, stiffness, or weakness, slurred speech, and/or difficulty chewing or swallowing. 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. This means that a person may have inherited genetic changes (variants) that increase their risk to develop ALS, but the person will only develop ALS if exposed to certain environmental triggers. About 10% of the people with ALS have at least one relative with the disease and are said to have have a familial (inherited) form of the disease (FALS). Familial ALS may be caused by changes (pathogenic variants, also known as mutations ) in any one of several genes and the pattern of inheritance varies depending on the gene involved. The distinction between sporadic and familial cases is not always clear. The average age at which symptoms begin is 56 years old in the sporadic cases and 46 years old in the familial cases. Diagnosis of ALS is based on symptoms and a variety of tests to rule out other possible medical diseases that can cause similar symptoms. The goal of treatment is to improve the quality of life for people with ALS, by assisting with breathing, nutrition, mobility, and communication. Medications specifically approved for the treatment of ALS in the United States include riluzole and edaravone.

OMIM® : 57 Amyotrophic lateral sclerosis is a neurodegenerative disorder characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. ALS usually begins with asymmetric involvement of the muscles in middle adult life. Approximately 10% of ALS cases are familial (Siddique and Deng, 1996). ALS is sometimes referred to as 'Lou Gehrig disease' after the famous American baseball player who was diagnosed with the disorder. Rowland and Shneider (2001) and Kunst (2004) provided extensive reviews of ALS. Some forms of ALS occur with frontotemporal dementia (FTD); see 105500. Ranganathan et al. (2020) provided a detailed review of the genes involved in different forms of ALS with FTD, noting that common disease pathways involve disturbances in RNA processing, autophagy, the ubiquitin proteasome system, the unfolded protein response, and intracellular trafficking. The current understanding of ALS and FTD is that some forms of these disorders represent a spectrum of disease with converging mechanisms of neurodegenerastaion. Familial ALS is distinct from a form of ALS with dementia reported in cases on Guam (105500) (Espinosa et al., 1962; Husquinet and Franck, 1980), in which the histology is different and dementia and parkinsonism complicate the clinical picture. (105400) (Updated 05-Apr-2021)

MedlinePlus : 42 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.

NINDS : 53 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.

KEGG : 36 Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by a progressive degeneration of motor neurons in the brain and spinal cord. In 90% of patients, ALS is sporadic, with no clear genetic linkage. On the other hand, the remaining 10% of cases show familial inheritance, with mutations in SOD1, TDP43(TARDBP), FUS, or C9orf72 genes being the most frequent causes. In spite of such difference, familial ALS and sporadic ALS have similarities in their pathological features. Proposed disease mechanisms contributing to motor neuron degeneration in ALS are: impaired proteostasis, aberrant RNA processing, mitochondrial disfunction and oxidative stress, microglia activation, and axonal dysfunction.

UniProtKB/Swiss-Prot : 72 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.
Amyotrophic lateral sclerosis 1: 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 : 73 Amyotrophic lateral sclerosis (ALS; also known as Lou Gehrig's disease in Canada and the United States,... more...

GeneReviews: NBK1450

Related Diseases for Amyotrophic Lateral Sclerosis 1

Diseases in the Juvenile Amyotrophic Lateral Sclerosis family:

Amyotrophic Lateral Sclerosis 1 Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic Lateral Sclerosis 5, Juvenile Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 21 Amyotrophic Lateral Sclerosis 3
Amyotrophic Lateral Sclerosis 7 Amyotrophic Lateral Sclerosis 8
Amyotrophic Lateral Sclerosis 9 Amyotrophic Lateral Sclerosis 11
Amyotrophic Lateral Sclerosis 16, Juvenile Amyotrophic Lateral Sclerosis 18
Amyotrophic Lateral Sclerosis 20 Amyotrophic Lateral Sclerosis 19
Amyotrophic Lateral Sclerosis 23 Amyotrophic Lateral Sclerosis 24
Amyotrophic Lateral Sclerosis 25 Amyotrophic Lateral Sclerosis Type 5
Amyotrophic Lateral Sclerosis Type 6 Amyotrophic Lateral Sclerosis Type 12
Amyotrophic Lateral Sclerosis Type 14 Amyotrophic Lateral Sclerosis Type 15
Amyotrophic Lateral Sclerosis Type 22 Tardbp-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 1085)
# Related Disease Score Top Affiliating Genes
1 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 35.5 VCP VAPB UBQLN2 TUBA4A TARDBP SQSTM1
2 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 35.0 VAPB UBQLN2 TARDBP SOD1 OPTN MATR3
3 amyotrophic lateral sclerosis 8 34.9 VCP VAPB UBQLN2 TARDBP SOD1 OPTN
4 amyotrophic lateral sclerosis type 6 34.9 VCP VAPB UBQLN2 TARDBP SOD1 OPTN
5 frontotemporal dementia 34.9 VCP UBQLN2 TUBA4A TARDBP SQSTM1 SOD1
6 amyotrophic lateral sclerosis type 12 34.6 VAPB UBQLN2 TARDBP SOD1 OPTN LOC108903148
7 amyotrophic lateral sclerosis 16, juvenile 34.5 VCP VAPB UBQLN2 PRPH FUS FIG4
8 amyotrophic lateral sclerosis 18 34.4 VAPB UBQLN2 PRPH PFN1 FUS FIG4
9 amyotrophic lateral sclerosis 19 34.4 UBQLN2 TARDBP SOD1 PRPH MATR3 ERBB4
10 amyotrophic lateral sclerosis 20 34.4 SOD1 PRPH PFN1 MATR3 HNRNPA1 FIG4
11 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 34.4 TARDBP SQSTM1 PRPH FUS C9orf72
12 amyotrophic lateral sclerosis 11 34.4 VAPB TARDBP OPTN FUS FIG4
13 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 34.3 TARDBP SOD1 C9orf72
14 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 34.3 PRPH MATR3 FUS C9orf72
15 amyotrophic lateral sclerosis type 14 34.2 VCP VAPB UBQLN2 OPTN FUS FIG4
16 amyotrophic lateral sclerosis type 15 34.1 VAPB UBQLN2 PRPH FIG4 C9orf72
17 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 34.0 VCP TARDBP FUS
18 spinal muscular atrophy, distal, autosomal recessive, 4 34.0 UBQLN2 TARDBP SQSTM1 SOD1 OPTN FUS
19 amyotrophic lateral sclerosis type 22 34.0 TUBA4A TARDBP PRPH FUS C9orf72
20 multisystem proteinopathy 33.9 VCP UBQLN2 TARDBP SQSTM1 OPTN MATR3
21 inclusion body myopathy with paget disease of bone and frontotemporal dementia 33.9 VCP UBQLN2 TARDBP SQSTM1 HNRNPA1 FUS
22 progressive muscular atrophy 33.9 VCP VAPB UBQLN2 TARDBP SOD1 OPTN
23 amyotrophic lateral sclerosis type 5 33.9 VAPB SOD1 ANG
24 neuromuscular disease 33.9 VCP TARDBP SOD1 NEFH FUS FIG4
25 spinocerebellar ataxia 2 33.9 VAPB UBQLN2 TARDBP SOD1 MATR3 HNRNPA1
26 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 33.8 TARDBP PRPH
27 pick disease of brain 33.8 VCP UBQLN2 TARDBP SQSTM1 SOD1 OPTN
28 dementia 33.5 VCP UBQLN2 TUBA4A TARDBP SQSTM1 HNRNPA1
29 progressive bulbar palsy 33.4 VAPB SOD1 NEFH FUS C9orf72
30 perry syndrome 33.4 VCP TARDBP DCTN1 C9orf72
31 amyotrophic lateral sclerosis 4, juvenile 33.2 VAPB UBQLN2 TARDBP SOD1 OPTN FUS
32 lateral sclerosis 33.2 VCP VAPB UBQLN2 TUBA4A TARDBP SQSTM1
33 spinal muscular atrophy 33.1 VAPB TARDBP SQSTM1 SOD1 MATR3 HNRNPA1
34 neuronopathy, distal hereditary motor, type viib 33.1 TARDBP DCTN1
35 alzheimer disease 33.0 VCP TARDBP SQSTM1 SOD1 OPTN NEFH
36 amyotrophic lateral sclerosis 21 32.8 VAPB PRPH MATR3 FUS FIG4
37 huntington disease 32.7 TARDBP SQSTM1 SOD1 PFN1 DCTN1 C9orf72
38 motor neuron disease 32.6 VCP VAPB UBQLN2 TARDBP SQSTM1 SOD1
39 disease of mental health 32.5 VCP VAPB UBQLN2 TARDBP SQSTM1 SOD1
40 supranuclear palsy, progressive, 1 32.5 VCP TARDBP SOD1 FUS DCTN1 C9orf72
41 aphasia 32.5 VCP TARDBP OPTN FUS C9orf72
42 autosomal dominant cerebellar ataxia 32.4 VCP UBQLN2 TARDBP SOD1 FUS C9orf72
43 charcot-marie-tooth disease 32.2 VCP SOD1 PRPH NEFH FIG4 DCTN1
44 amyotrophic lateral sclerosis 12 with or without frontotemporal dementia 32.2 OPTN LOC108903148
45 paget's disease of bone 32.1 VCP SQSTM1 OPTN HNRNPA1 C9orf72
46 spinal and bulbar muscular atrophy, x-linked 1 32.0 TARDBP SOD1 FUS DCTN1 C9orf72
47 hemochromatosis, type 1 32.0 VAPB SOD1 OPTN NEFH FUS FIG4
48 movement disease 32.0 VCP TARDBP FUS C9orf72
49 agraphia 31.8 VCP TARDBP C9orf72
50 dysgraphia 31.8 TARDBP FUS C9orf72

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

Human phenotypes related to Amyotrophic Lateral Sclerosis 1:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 amyotrophic lateral sclerosis 58 31 obligate (100%) Obligate (100%) HP:0007354
2 generalized muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003324
3 neurodegeneration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002180
4 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
5 emotional lability 58 31 frequent (33%) Frequent (79-30%) HP:0000712
6 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
7 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
8 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
9 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
10 dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002094
11 respiratory failure 58 31 frequent (33%) Frequent (79-30%) HP:0002878
12 fatigable weakness of swallowing muscles 58 31 frequent (33%) Frequent (79-30%) HP:0030195
13 xerostomia 58 31 frequent (33%) Frequent (79-30%) HP:0000217
14 pain 58 31 frequent (33%) Frequent (79-30%) HP:0012531
15 muscle spasm 58 31 frequent (33%) Frequent (79-30%) HP:0003394
16 paralysis 58 31 frequent (33%) Frequent (79-30%) HP:0003470
17 fatigable weakness of respiratory muscles 58 31 frequent (33%) Frequent (79-30%) HP:0030196
18 nausea and vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002017
19 agitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0000713
20 laryngospasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0025425
21 hyperreflexia 31 HP:0001347
22 sleep apnea 31 HP:0010535
23 muscle weakness 31 HP:0001324
24 fasciculations 31 HP:0002380
25 fatigable weakness of bulbar muscles 58 Frequent (79-30%)
26 pseudobulbar paralysis 31 HP:0007024
27 degeneration of anterior horn cells 31 HP:0002398
28 functional respiratory abnormality 58 Frequent (79-30%)
29 motor neuron atrophy 58 Very frequent (99-80%)
30 degeneration of the lateral corticospinal tracts 31 HP:0002314

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
sleep apnea
ocular motility spared
upper and lower neuron manifestations
more
Laboratory Abnormalities:
reduced cytosolic superoxide dismutase-1 (sod1)

Muscle Soft Tissue:
fasciculations
muscle cramps
muscle weakness and atrophy

Clinical features from OMIM®:

105400 (Updated 05-Apr-2021)

UMLS symptoms related to Amyotrophic Lateral Sclerosis 1:


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

MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.15 C9orf72 DCTN1 ERBB4 FIG4 MATR3 NEFH
2 cellular MP:0005384 10.13 ANG C9orf72 DCTN1 ERBB4 MATR3 NEFH
3 hematopoietic system MP:0005397 10.03 ANG C9orf72 DCTN1 ERBB4 FIG4 MATR3
4 immune system MP:0005387 9.93 ANG C9orf72 DCTN1 ERBB4 FIG4 MATR3
5 muscle MP:0005369 9.56 DCTN1 ERBB4 FIG4 MATR3 SOD1 TARDBP
6 nervous system MP:0003631 9.44 C9orf72 DCTN1 ERBB4 FIG4 MATR3 NEFH

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 335)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mexiletine Approved, Investigational Phase 4 31828-71-4 4178
2
Olanzapine Approved, Investigational Phase 2, Phase 3 132539-06-1 4585 135398745
3
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
4
Ceftriaxone Approved Phase 3 73384-59-5 5479530 5361919
5
Mecasermin Approved, Investigational Phase 3 68562-41-4
6
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
7
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
8
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
9
Quinidine Approved, Investigational Phase 3 56-54-2 441074
10
Sargramostim Approved, Investigational Phase 2, Phase 3 123774-72-1, 83869-56-1
11
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
12
Guaifenesin Approved, Investigational, Vet_approved Phase 3 93-14-1 3516
13
Phenylpropanolamine Approved, Vet_approved, Withdrawn Phase 3 14838-15-4 26934
14
Citalopram Approved Phase 3 59729-33-8 2771
15
Memantine Approved, Investigational Phase 2, Phase 3 19982-08-2 4054
16
Edaravone Approved, Investigational Phase 3 89-25-8 70335
17
Trazodone Approved, Investigational Phase 2, Phase 3 19794-93-5 5533
18
Iron Approved Phase 2, Phase 3 7439-89-6 23925 29936
19
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
20
Sodium citrate Approved, Investigational Phase 3 68-04-2
21
Ravulizumab Approved, Investigational Phase 3 1803171-55-2
22
Coal tar Approved Phase 2, Phase 3 8007-45-2
23
Dopamine Approved Phase 3 62-31-7, 51-61-6 681
24
Pramipexole Approved, Investigational Phase 3 104632-26-0 59868 119570
25
Lithium carbonate Approved Phase 2, Phase 3 554-13-2
26
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
27
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
28
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
29
Nabiximols Investigational Phase 2, Phase 3 56575-23-6
30
Molgramostim Investigational Phase 2, Phase 3 99283-10-0
31
Simendan Investigational Phase 3 131741-08-7
32
Dexetimide Withdrawn Phase 3 21888-98-2
33
Ibudilast Investigational Phase 2, Phase 3 50847-11-5 3671
34
Tauroursodeoxycholic acid Experimental, Investigational Phase 2, Phase 3 14605-22-2 12443252
35 Neurotransmitter Agents Phase 3
36 Excitatory Amino Acid Antagonists Phase 3
37 Ubiquinone Phase 3
38 Respiratory System Agents Phase 3
39 Cephalosporins Phase 3
40 insulin Phase 3
41 Mitogens Phase 3
42 Insulin, Globin Zinc Phase 3
43 Antimalarials Phase 3
44 Antiparasitic Agents Phase 3
45 Antiprotozoal Agents Phase 3
46 Immunoglobulins, Intravenous Phase 3
47 Immunoglobulin G Phase 3
48 gamma-Globulins Phase 3
49 Rho(D) Immune Globulin Phase 3
50 abobotulinumtoxinA Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 609)
# Name Status NCT ID Phase Drugs
1 Role of Non-invasive Ventilation in Amyotrophic Lateral Sclerosis: Volume Versus Pressure Mode Unknown status NCT00560287 Phase 4
2 Mexiletine for the Treatment of Muscle Cramps in ALS Completed NCT01811355 Phase 4 Mexiletine;Placebo
3 Feasibility of Telesurveillance and Home Cough Assistance for Amyotrophic Lateral Patients (ALS) Completed NCT00613899 Phase 4
4 Care (Canadian ALS Riluzole Evaluation) Multicentre Phase IV Comparative Study of the Effects of Riluzole 50mg Bid on the Survival of ALS Subjects Compared to Historical Controls Completed NCT00542412 Phase 4 Riluzole
5 Japanese Early-stage Clinical Trial of Ultra-high Dose Methylcobalamin for Amyotrophic Lateral Sclerosis: a Pivotal Phase 3 Randomized Controlled Study Unknown status NCT03548311 Phase 3 methylcobalamin;saline solution
6 Randomized, Placebo-controlled Parallel Group Study for the Evaluation of an Oral Dose of 10mg Olanzapine in Combination With Riluzole for the Treatment of Loss of Appetite in Patients With Amyotrophic Lateral Sclerosis (ALS) Unknown status NCT00876772 Phase 2, Phase 3 Olanzapine
7 Treatment Effect of Edaravone in Patients With Amyotrophic Lateral Sclerosis (ALS) in a Representative Iranian Population Unknown status NCT03272802 Phase 2, Phase 3 Edaravone;Riluzole
8 A Phase III, Multi-Center, Double-Blind, Placebo Controlled, Randomized Study of Creatine Monohydrate in Patients With Amyotrophic Lateral Sclerosis Unknown status NCT00069186 Phase 3 Creatine Monohydrate
9 Phase 2-3 - Memantine for Disability in Amyotrophic Lateral Sclerosis Completed NCT00353665 Phase 2, Phase 3 Memantine (Ebixa);riluzole;Placebo
10 Noninvasive Ventilation in ALS Patients With Mild Respiratory Involvement Completed NCT00386464 Phase 2, Phase 3
11 Minocycline to Treat Amyotrophic Lateral Sclerosis Completed NCT00047723 Phase 3 minocycline
12 Randomized Crossover Design Trial of Vitamin E vs Placebo for Treatment of Cramps in Amyotrophic Lateral Sclerosis. Completed NCT00372879 Phase 3
13 Clinical Trial Ceftriaxone in Subjects With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00349622 Phase 3 ceftriaxone
14 Insulin-like Growth Factor-1 in Amyotrophic Lateral Sclerosis (ALS) Completed NCT00035815 Phase 3 Insulin like growth factor, type 1;Placebo
15 Phase II/III Randomized, Placebo-Controlled Trial of Arimoclomol in SOD1 Positive Familial Amyotrophic Lateral Sclerosis (ALS) Completed NCT00706147 Phase 2, Phase 3 Arimoclomol;Placebo
16 A Fase II, Randomized, Double-Blind, Placebo-Controlled, Multicentre Study for the Safety and Efficacy on Spasticity Symptoms of a Cannabis Sativa Extract in Motor Neuron Disease Patients Completed NCT01776970 Phase 2, Phase 3 Cannabis Sativa extract Oromucosal spray
17 A European, Randomised, Double-blind, Active Comparator Controlled, Cross-over, Efficacy and Safety Study of a New 10% Ready To-use Liquid Human Intravenous Immunoglobulin (I10E) Versus Kiovig® in Patients With Multifocal Motor Neuropathy Completed NCT01951924 Phase 3 Biological : I10E (Human normal Immunoglobulin for intravenous administration 100mg/mL);Biological: Kiovig® (Human normal Immunoglobulin for intravenous administration 100mg/mL)
18 A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00445172 Phase 2, Phase 3 E0302 (mecobalamin)
19 A Randomized, Double-Blind, Placebo-Controlled Sequential Clinical Trial of Sodium Valproate in ALS Completed NCT00136110 Phase 3 Sodium Valproate
20 A Randomized, Double-Blind, Placebo-Controlled Study of Safety and Efficacy of Botulinum Toxin Type B (Myobloc) in Sialorrhea in Amyotrophic Lateral Sclerosis Completed NCT00125203 Phase 2, Phase 3 Botulinum toxin type B (Myobloc)
21 A Double-Blind Controlled, Multicenter Phase II/III Study to Assess the Safety and Efficacy of AVP-923 (Dextromethorphan/Quinidine) in the Treatment of Pseudobulbar Affect in Patients With Amyotrophic Lateral Sclerosis Completed NCT00021697 Phase 3 AVP-923
22 A Phase II/III Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00444613 Phase 2, Phase 3 E0302 (mecobalamin);E0302 (mecobalamin);Placebo
23 A Confirmatory Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis in Double-blind, Parallel-group, Placebo-controlled Manner. Completed NCT00330681 Phase 3 MCI-186;Placebo of MCI-186
24 The Effect of Granulocyte Colony Stimulating Factor (GCSF) in the Treatment of Amyotrophic Lateral Sclerosis (ALS) Patients Referred to Tehran Imam Khomeini and Shariati Hospital Centers in 2013 Completed NCT01825551 Phase 2, Phase 3 Granulocyte Colony Stimulating Factor;Placebo
25 Study of Dopamine and Serotonin Transporters in Patients With Amyotrophic Lateral Sclerosis and Controls. Analysis With 123I-FP-CIT (Datscan) and 123I-ADAM Brain SPECT Completed NCT01160263 Phase 3 SPECT : 123 I-FP-CIT (DATSCAN) and 123I-ADAM
26 Effects of Oral Levosimendan (ODM-109) on Respiratory Function in Patients With ALS: Open-Label Extension for Patients Completing Study 3119002 Completed NCT03948178 Phase 3 Levosimendan
27 An Exploratory Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis (Severity Classification III) in Double-Blind, Parallel-Group, Placebo-Controlled Manner Completed NCT00415519 Phase 3 MCI-186;Placebo of MCI-186
28 Efficacy and Safety Study of MCI-186 for Treatment of the Patients With Amyotrophic Lateral Sclerosis (ALS) 2 Completed NCT01492686 Phase 3 MCI-186;Placebo;MCI-186 in open label phase
29 An Expanded Controlled Study of MCI-186 for Treatment of Amyotrophic Lateral Sclerosis in Double-Blind, Parallel-Group, Placebo-Controlled Manner (Phase 3) Completed NCT00424463 Phase 3 MCI-186;Placebo of MCI-186
30 A Phase 3, Multi-National, Double-Blind, Randomized, Placebo-Controlled, Stratified, Parallel Group, Study to Evaluate the Safety, Tolerability and Efficacy of Tirasemtiv in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT02496767 Phase 3 Tirasemtiv;Placebo tablets
31 Evaluation of the Safety, Tolerability, Efficacy and Activity of AMX0035, a Fixed Combination of Phenylbutyrate (PB) and Tauroursodeoxycholic Acid (TUDCA), for the Treatment of ALS Completed NCT03127514 Phase 2, Phase 3 AMX0035
32 A Phase 3, Open-Label Extension Study of Tirasemtiv for Patients With Amyotrophic Lateral Sclerosis (ALS) Who Completed VITALITY-ALS (CY 4031) Completed NCT02936635 Phase 3 tirasemtiv
33 Effects of Oral Levosimendan (ODM-109) on Respiratory Function in Patients With ALS Completed NCT03505021 Phase 3 Levosimendan;Placebo for levosimendan
34 Effect of Intrathecal Administration of Hematopoietic Stem Cells in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT01933321 Phase 2, Phase 3
35 Repetitive Transcranial Magnetic Stimulation in Amyotrophic Lateral Sclerosis Completed NCT00833820 Phase 2, Phase 3
36 A Phase 3, Randomised, Placebo-Controlled Trial of Arimoclomol in Amyotropic Lateral Sclerosis Completed NCT03491462 Phase 3 Arimoclomol;Placebo oral capsule
37 A Phase 3, Randomized Double-Blind, Placebo-Controlled Multicenter Study to Evaluate Efficacy and Safety of Repeated Administration of NurOwn® (Autologous Mesenchymal Stem Cells Secreting Neurotrophic Factors) in Participants With ALS Completed NCT03280056 Phase 3
38 A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study of the Safety and Efficacy of Dexpramipexole in Subjects With Amyotrophic Lateral Sclerosis Completed NCT01281189 Phase 3 Dexpramipexole;Placebo
39 Multicenter, Randomised, Double-blind, Placebo-controlled, Parallel Group, Phase 2/3 Study to Compare the Efficacy and Safety of Masitinib Completed NCT02588677 Phase 2, Phase 3 Masitinib (4.5);Riluzole;Placebo;Masitinib (3.0)
40 An Open-label Safety Extension Study of TRO19622 in Amyotrophic Lateral Sclerosis (ALS) Patients Treated With Riluzole Completed NCT01285583 Phase 2, Phase 3 TRO19622
41 Phase II/III, Multicenter, Randomized, Parallel Group, Double-blind, Placebo Controlled Study to Assess Safety and Efficacy of TRO19622 in Amyotrophic Lateral Sclerosis (ALS) Patients Treated With Riluzole Completed NCT00868166 Phase 3 Olesoxime;Placebo Comparator;Riluzole
42 An Open-label, 8- Week, Flexible Dose Trial of Escitalopram (Lexapro®) in Comorbid Major Depression With Amyotrophic Lateral Sclerosis and Multiple Sclerosis Completed NCT00965497 Phase 3 escitalopram
43 A Double-Blind, Randomized, Placebo-Controlled, Multicenter Study to Assess the Safety and Efficacy and to Determine the Pharmacokinetics of Two Doses of AVP-923 (Dextromethorphan/Quinidine) in the Treatment of Pseudobulbar Affect (PBA) in Patients With Amyotrophic Lateral Sclerosis (ALS) and Multiple Sclerosis (MS) Completed NCT00573443 Phase 3 dextromethorphan hydrobromide 20 mg and quinidine sulfate 10 mg;dextromethorphan hydrobromide 30 mg and quinidine sulfate 10 mg;Placebo
44 A Phase 2b/3, Multi-Center, Randomized, Double-Blind, Placebo-Controlled, 12 Month Clinical Trial to Evaluate the Efficacy and Safety of MN-166 (Ibudilast) Followed by Open-Label Extension Phase in Subjects With Amyotrophic Lateral Sclerosis Recruiting NCT04057898 Phase 2, Phase 3 MN-166;placebo
45 Motor Neurone Disease - Systematic Multi-Arm Adaptive Randomised Trial Recruiting NCT04302870 Phase 2, Phase 3 Memantine Hydrochloride Oral Solution;Trazodone Hydrochloride oral solution;Placebo oral solution
46 A Randomised, Double-blind, Single-centre Study on the Safety, Tolerability and Efficacy of Cannabis Based Medicine Extract (MediCabilis CBD Oil) in Slowing the Disease Progression in Amyotrophic Lateral Sclerosis or Motor Neurone Disease Patients Recruiting NCT03690791 Phase 3 MediCabilis CBD Oil;Placebo Oil
47 A Multicenter, Randomized, Double-Blind, Placebo-Controlled Phase 2 Study of Cu(II)ATSM in Patients With Amyotrophic Lateral Sclerosis/Motor Neuron Disease Recruiting NCT04082832 Phase 2, Phase 3 Cu(II)ATSM;Placebos
48 A Prospective, Multicenter, Randomised, Double-blind, Placebo-controlled, Parallel Groups, Phase 3 Study to Compare the Efficacy and Safety of Masitinib in Combination With Riluzole Versus Placebo in Combination With Riluzole in the Treatment of Patients Suffering From Amyotrophic Lateral Sclerosis (ALS) Recruiting NCT03127267 Phase 3 Masitinib (6.0);Riluzole;Placebo;Masitinib (4.5)
49 Safety and Efficacy of Tauroursodeoxycholic (TUDCA) as add-on Treatment in Patients Affected by Amyotrophic Lateral Sclerosis (ALS) Recruiting NCT03800524 Phase 3 Tauroursodeoxycholic Acid;Placebo
50 A Double-blind, Randomized, Multicenter, Placebo-Controlled, Parallel, Phase III Clinical Trial to Evaluate the Efficacy and Safety of Lenzumestrocel(Neuronata-R® Inj.) in Patients With Amyotrophic Lateral Sclerosis Recruiting NCT04745299 Phase 3 Riluzole;Placebo Comparator

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis 1

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Riluzole

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.
Stem-cell-based therapeutic approaches for Amyotrophic Lateral Sclerosis 1:
Autologous bone marrow-derived stem cells for treatment of amyotrophic lateral sclerosis
Human fetal neural stem cells for treatment of amyotrophic lateral sclerosis
Human mesenchymal stem cell transplantation in mouse model of amyotrophic lateral sclerosis
HYNR-CS inj, bone marrow-derived stem cells for amyotrophic lateral sclerosis
Mesenchymal stem cell transplantation in amyotrophic lateral sclerosis patients
Mesenchymal stem cells for amyotrophic lateral sclerosis
MotorGraft, embryonic stem cell-derived motor neuron progenitors for neuromuscular diseases
Neural stem cell transplantation for amyotrophic lateral sclerosis
NSI-566, spinal cord stem cells for neurological disorders
NurOwn, mesenchymal stem cells secreting NTF for neurodegenerative diseases
Umbilical cord-derived mesenchymal stem cells for treatment of amyotrophic lateral sclerosis
Embryonic/Adult Cultured Cells Related to Amyotrophic Lateral Sclerosis 1:
Bone marrow-derived mononuclear cells
Bone marrow-derived mesenchymal stem cells PMIDs: 18586098
Bone marrow-derived mesenchymal stem cells (HYNR-CS inj) PMIDs: 20117176
Bone marrow-derived mesenchymal stem cells PMIDs: 21954839 19682989 17582439
Adipose-derived mesenchymal stem cells (family)
Motor neuron progenitor cells
Neural stem cells LewisX+ CXCR4+ PMIDs: 17439986
Fetal spinal cord stem cells (NSI-566) PMIDs: 22415942 19326469
Astrocyte-like cells PMIDs: 19603590 19127447
Umbilical cord-derived mesenchymal stem cells (family)

Genetic Tests for Amyotrophic Lateral Sclerosis 1

Genetic tests related to Amyotrophic Lateral Sclerosis 1:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis 29 C9orf72 OPTN UBQLN2 VCP
2 Amyotrophic Lateral Sclerosis Type 1 29 DCTN1 NEFH PRPH SOD1
3 Amyotrophic Lateral Sclerosis, Susceptibility to 29

Anatomical Context for Amyotrophic Lateral Sclerosis 1

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 1:

40
Spinal Cord, Brain, Skeletal Muscle, Bone Marrow, Cortex, Bone, Skin
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:
# 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:

(show top 50) (show all 24396)
# Title Authors PMID Year
1
Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. 61 57 6 54
9029070 1997
2
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. 6 57 61
20577002 2010
3
An immunological epitope selective for pathological monomer-misfolded SOD1 in ALS. 57 6 61
17486090 2007
4
The G93C mutation in superoxide dismutase 1: clinicopathologic phenotype and prognosis. 6 57 61
16476815 2006
5
A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis. 61 6 57
15322088 2004
6
Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor. 57 6 61
9817920 1998
7
Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. 61 6 57
7647793 1995
8
Cu/Zn superoxide dismutase (SOD1) mutations and sporadic amyotrophic lateral sclerosis. 61 6 57
8105280 1993
9
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. 61 57 6
8351519 1993
10
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. 61 57 6
8446170 1993
11
Rapid disease progression correlates with instability of mutant SOD1 in familial ALS. 6 57
16291929 2005
12
Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. 57 6
15326253 2004
13
The inheritance of progressive muscular atrophy as a dominant trait in two New England families. 6 57
13804989 1960
14
"Wetherbee Ail"; the inheritance of progressive muscular atrophy as a dominant trait in two New England families. 6 57
14875225 1951
15
Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis. 6 61 54
19760257 2010
16
TARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy. 6 54 61
19618195 2009
17
A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS. 54 61 57
19321847 2009
18
Lack of evidence of monomer/misfolded superoxide dismutase-1 in sporadic amyotrophic lateral sclerosis. 61 57 54
19670443 2009
19
High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. 54 6 61
19224587 2009
20
Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis. 6 61 54
18852347 2008
21
Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations. 54 61 6
18779421 2008
22
Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. 54 61 6
18802454 2008
23
TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. 6 54 61
18396105 2008
24
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. 61 54 6
18309045 2008
25
Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis. 54 6 61
18087731 2008
26
Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis. 6 54 61
17886298 2007
27
Expression of Nogo-A in human muscle fibers is not specific for amyotrophic lateral sclerosis. 57 54 61
17894379 2007
28
Lack of TDP-43 abnormalities in mutant SOD1 transgenic mice shows disparity with ALS. 54 61 6
17543992 2007
29
SMN1 gene, but not SMN2, is a risk factor for sporadic ALS. 61 57 54
16931506 2006
30
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. 54 61 6
16501576 2006
31
Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD. 54 6 61
16240349 2005
32
A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis. 54 61 6
15446584 2004
33
[Clinical features and neuropathological findings of familial amyotrophic lateral sclerosis with an H43R mutation in Cu/Zn superoxide dismutase]. 6 61 54
14658402 2003
34
Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes. 61 6 54
14506936 2003
35
Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene. 57 61 54
11951178 2002
36
Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis. 57 54 61
11835381 2002
37
A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressive familial amyotrophic lateral sclerosis. 61 6 54
10624810 1999
38
Exon 5 encoded domain is not required for the toxic function of mutant SOD1 but essential for the dismutase activity: identification and characterization of two new SOD1 mutations associated with familial amyotrophic lateral sclerosis. 54 61 6
10735277 1997
39
Transgenic mice carrying a human mutant superoxide dismutase transgene develop neuronal cytoskeletal pathology resembling human amyotrophic lateral sclerosis lesions. 61 54 57
8610185 1996
40
Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn superoxide dismutase gene. 6 61 54
7501156 1995
41
Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients. 6 61 54
7643359 1995
42
Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity. 61 54 6
8058797 1994
43
A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis. 54 61 6
8179602 1994
44
Evolution of a Human-Specific Tandem Repeat Associated with ALS. 57 61
32750315 2020
45
Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia. 61 57
32733193 2020
46
Novel mutation in optineurin causing aggressive ALS+/-frontotemporal dementia. 6 61
31838784 2019
47
Potential roles of gut microbiome and metabolites in modulating ALS in mice. 61 57
31330533 2019
48
p.N345K mutation in TARDBP in a patient with familial amyotrophic lateral sclerosis: An autopsy case. 61 6
31124595 2019
49
FUS-ALS presenting with myoclonic jerks in a 17-year-old man. 61 6
30879340 2019
50
Amyotrophic Lateral Sclerosis associated FUS mutation shortens mitochondria and induces neurotoxicity. 61 6
30349096 2018

Variations for Amyotrophic Lateral Sclerosis 1

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 1:

6 (show top 50) (show all 1662)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SOD1 NM_000454.4(SOD1):c.313A>T (p.Ile105Phe) SNV Pathogenic 14767 rs121912445 GRCh37: 21:33039644-33039644
GRCh38: 21:31667331-31667331
2 UBQLN2 NM_013444.3(UBQLN2):c.1490C>A (p.Pro497His) SNV Pathogenic 29950 rs387906709 GRCh37: X:56591796-56591796
GRCh38: X:56565363-56565363
3 UBQLN2 NM_013444.3(UBQLN2):c.1489C>T (p.Pro497Ser) SNV Pathogenic 29951 rs387906710 GRCh37: X:56591795-56591795
GRCh38: X:56565362-56565362
4 UBQLN2 NM_013444.3(UBQLN2):c.1516C>A (p.Pro506Thr) SNV Pathogenic 29952 rs387906711 GRCh37: X:56591822-56591822
GRCh38: X:56565389-56565389
5 PFN1 NM_005022.4(PFN1):c.211T>G (p.Cys71Gly) SNV Pathogenic 37034 rs387907264 GRCh37: 17:4850037-4850037
GRCh38: 17:4946742-4946742
6 PFN1 NM_005022.4(PFN1):c.341T>C (p.Met114Thr) SNV Pathogenic 37035 rs387907265 GRCh37: 17:4849277-4849277
GRCh38: 17:4945982-4945982
7 PFN1 NM_005022.4(PFN1):c.353G>T (p.Gly118Val) SNV Pathogenic 37036 rs387907266 GRCh37: 17:4849265-4849265
GRCh38: 17:4945970-4945970
8 PFN1 NM_005022.4(PFN1):c.350A>G (p.Glu117Gly) SNV Pathogenic 37037 rs140547520 GRCh37: 17:4849268-4849268
GRCh38: 17:4945973-4945973
9 HNRNPA1 NM_031157.4(HNRNPA1):c.940G>A (p.Asp314Asn) SNV Pathogenic 65452 rs397518453 GRCh37: 12:54677628-54677628
GRCh38: 12:54283844-54283844
10 HNRNPA1 NM_031157.4(HNRNPA1):c.956A>G (p.Asn319Ser) SNV Pathogenic 65453 rs397518454 GRCh37: 12:54677644-54677644
GRCh38: 12:54283860-54283860
11 MATR3 NM_018834.6(MATR3):c.344T>G (p.Phe115Cys) SNV Pathogenic 126561 rs587777300 GRCh37: 5:138643448-138643448
GRCh38: 5:139307759-139307759
12 MATR3 NM_018834.6(MATR3):c.1864A>G (p.Thr622Ala) SNV Pathogenic 126562 rs587777301 GRCh37: 5:138658372-138658372
GRCh38: 5:139322683-139322683
13 MATR3 NM_018834.6(MATR3):c.460C>T (p.Pro154Ser) SNV Pathogenic 126563 rs587777302 GRCh37: 5:138643564-138643564
GRCh38: 5:139307875-139307875
14 VCP NM_007126.5(VCP):c.475C>G (p.Arg159Gly) SNV Pathogenic 30152 rs387906789 GRCh37: 9:35065349-35065349
GRCh38: 9:35065352-35065352
15 VCP NM_007126.5(VCP):c.1774G>A (p.Asp592Asn) SNV Pathogenic 30153 rs387906790 GRCh37: 9:35059720-35059720
GRCh38: 9:35059723-35059723
16 FUS NM_004960.3(FUS):c.1561C>G (p.Arg521Gly) SNV Pathogenic 16222 rs121909668 GRCh37: 16:31202739-31202739
GRCh38: 16:31191418-31191418
17 FUS NM_004960.3(FUS):c.1553G>A (p.Arg518Lys) SNV Pathogenic 16223 rs121909669 GRCh37: 16:31202731-31202731
GRCh38: 16:31191410-31191410
18 FUS NM_004960.3(FUS):c.1561C>T (p.Arg521Cys) SNV Pathogenic 16224 rs121909668 GRCh37: 16:31202739-31202739
GRCh38: 16:31191418-31191418
19 FUS NM_004960.3(FUS):c.1562G>A (p.Arg521His) SNV Pathogenic 16225 rs121909671 GRCh37: 16:31202740-31202740
GRCh38: 16:31191419-31191419
20 FUS NM_004960.3(FUS):c.1520G>A (p.Gly507Asp) SNV Pathogenic 16226 rs267606831 GRCh37: 16:31202410-31202410
GRCh38: 16:31191089-31191089
21 FUS NM_004960.3(FUS):c.646C>T (p.Arg216Cys) SNV Pathogenic 16227 rs267606832 GRCh37: 16:31196382-31196382
GRCh38: 16:31185061-31185061
22 FUS NM_004960.3(FUS):c.1570A>T (p.Arg524Trp) SNV Pathogenic 16228 rs267606833 GRCh37: 16:31202748-31202748
GRCh38: 16:31191427-31191427
23 ANG , RNASE4 NM_001097577.3(ANG):c.107A>T (p.Gln36Leu) SNV Pathogenic 18073 rs121909535 GRCh37: 14:21161830-21161830
GRCh38: 14:20693671-20693671
24 ANG , RNASE4 NM_001097577.3(ANG):c.155G>A (p.Ser52Asn) SNV Pathogenic 18080 rs121909542 GRCh37: 14:21161878-21161878
GRCh38: 14:20693719-20693719
25 ANG , RNASE4 NM_001097577.3(ANG):c.407C>T (p.Pro136Leu) SNV Pathogenic 18081 rs121909543 GRCh37: 14:21162130-21162130
GRCh38: 14:20693971-20693971
26 ANG , RNASE4 NM_001097577.3(ANG):c.409G>A (p.Val137Ile) SNV Pathogenic 18082 rs121909544 GRCh37: 14:21162132-21162132
GRCh38: 14:20693973-20693973
27 FUS NM_004960.3(FUS):c.1483C>T (p.Arg495Ter) SNV Pathogenic 29707 rs387906627 GRCh37: 16:31202373-31202373
GRCh38: 16:31191052-31191052
28 FUS NM_004960.3(FUS):c.616G>A (p.Gly206Ser) SNV Pathogenic 29708 rs387906628 GRCh37: 16:31196352-31196352
GRCh38: 16:31185031-31185031
29 ANG , RNASE4 NM_001097577.3(ANG):c.121A>G (p.Lys41Glu) SNV Pathogenic 18075 rs121909537 GRCh37: 14:21161844-21161844
GRCh38: 14:20693685-20693685
30 ANG , RNASE4 NM_001097577.3(ANG):c.164G>A (p.Arg55Lys) SNV Pathogenic 18076 rs121909538 GRCh37: 14:21161887-21161887
GRCh38: 14:20693728-20693728
31 ANG , RNASE4 NM_001097577.3(ANG):c.189C>G (p.Cys63Trp) SNV Pathogenic 18077 rs121909539 GRCh37: 14:21161912-21161912
GRCh38: 14:20693753-20693753
32 ANG , RNASE4 NM_001097577.3(ANG):c.191A>T (p.Lys64Ile) SNV Pathogenic 18078 rs121909540 GRCh37: 14:21161914-21161914
GRCh38: 14:20693755-20693755
33 SOD1 NM_000454.4(SOD1):c.435G>C (p.Leu145Phe) SNV Pathogenic 586637 rs1482760341 GRCh37: 21:33040861-33040861
GRCh38: 21:31668548-31668548
34 OPTN NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs) Insertion Pathogenic 647662 rs774258585 GRCh37: 10:13154464-13154465
GRCh38: 10:13112464-13112465
35 overlap with 3 genes NC_000010.10:g.(?_12833157)_(13178866_?)del Deletion Pathogenic 584050 GRCh37: 10:12833157-13178866
GRCh38:
36 overlap with 4 genes NC_000010.11:g.(?_13109123)_(13183100_?)del Deletion Pathogenic 583651 GRCh37: 10:13151123-13225100
GRCh38: 10:13109123-13183100
37 FUS NM_004960.3(FUS):c.1561C>G (p.Arg521Gly) SNV Pathogenic 16222 rs121909668 GRCh37: 16:31202739-31202739
GRCh38: 16:31191418-31191418
38 TARDBP NM_007375.3(TARDBP):c.1035C>A (p.Asn345Lys) SNV Pathogenic 21467 rs80356732 GRCh37: 1:11082501-11082501
GRCh38: 1:11022444-11022444
39 LOC108903148 , OPTN NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs) Duplication Pathogenic 576203 rs1564354968 GRCh37: 10:13151279-13151280
GRCh38: 10:13109279-13109280
40 FUS NM_004960.3(FUS):c.1564A>G (p.Arg522Gly) SNV Pathogenic 540279 rs1555509693 GRCh37: 16:31202742-31202742
GRCh38: 16:31191421-31191421
41 SOD1 NM_000454.4(SOD1):c.112G>C (p.Gly38Arg) SNV Pathogenic 549678 rs121912431 GRCh37: 21:33036142-33036142
GRCh38: 21:31663829-31663829
42 OPTN NC_000010.11:g.(?_13116257)_(13116350_?)del Deletion Pathogenic 831344 GRCh37: 10:13158257-13158350
GRCh38:
43 DCTN1 NM_004082.4(DCTN1):c.175G>A (p.Gly59Ser) SNV Pathogenic 8401 rs121909342 GRCh37: 2:74605231-74605231
GRCh38: 2:74378104-74378104
44 OPTN and overlap with 2 gene(s) NC_000010.11:g.(?_13109103)_(13136886_?)del Deletion Pathogenic 529764 GRCh37: 10:13151103-13178886
GRCh38: 10:13109103-13136886
45 SQSTM1 NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val) SNV Pathogenic 253029 rs200396166 GRCh37: 5:179248034-179248034
GRCh38: 5:179821034-179821034
46 TARDBP NM_007375.3(TARDBP):c.881G>T (p.Gly294Val) SNV Pathogenic 21484 rs80356721 GRCh37: 1:11082347-11082347
GRCh38: 1:11022290-11022290
47 TARDBP NM_007375.3(TARDBP):c.*83T>C SNV Pathogenic 21465 rs80356744 GRCh37: 1:11082794-11082794
GRCh38: 1:11022737-11022737
48 SOD1 SOD1, IVS4AS, C-G, -304 SNV Pathogenic 14786 GRCh37:
GRCh38:
49 SOD1 SOD1, 6-BP DEL, GGACCA Deletion Pathogenic 14785 GRCh37:
GRCh38:
50 SOD1 NM_000454.4(SOD1):c.280G>C (p.Gly94Arg) SNV Pathogenic 14784 rs121912437 GRCh37: 21:33039611-33039611
GRCh38: 21:31667298-31667298

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

72 (show top 50) (show all 83)
# 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 rs156880733
7 SOD1 p.Val15Met VAR_007133 rs156880740
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 rs156880917
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 rs121912438
23 SOD1 p.Gly94Arg VAR_007149 rs121912437
24 SOD1 p.Glu101Gly VAR_007150 rs121912439
25 SOD1 p.Asp102Gly VAR_007151 rs156881072
26 SOD1 p.Asp102Asn VAR_007152 rs156881071
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 rs130163532
31 SOD1 p.Asp126His VAR_007157 rs156881137
32 SOD1 p.Ser135Asn VAR_007158 rs121912451
33 SOD1 p.Asn140Lys VAR_007159 rs1804449
34 SOD1 p.Leu145Phe VAR_007160 rs148276034
35 SOD1 p.Val149Gly VAR_007161 rs147676062
36 SOD1 p.Val149Ile VAR_007162 rs567511139
37 SOD1 p.Ile150Thr VAR_007163 rs142401499
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 rs121912438
42 SOD1 p.Ile105Phe VAR_008720 rs121912445
43 SOD1 p.Asp125Val VAR_008722 rs156881136
44 SOD1 p.Leu145Ser VAR_008724 rs121912446
45 SOD1 p.Ala146Thr VAR_008725 rs121912447
46 SOD1 p.Ala5Ser VAR_013518 rs121912444
47 SOD1 p.Leu9Gln VAR_013519 rs156880734
48 SOD1 p.Leu9Val VAR_013520 rs156880733
49 SOD1 p.Gly13Arg VAR_013521 rs121912456
50 SOD1 p.Val15Gly VAR_013522 rs120298981

Copy number variations for Amyotrophic Lateral Sclerosis 1 from CNVD:

7 (show top 50) (show all 271)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 46555 10 82021555 82039414 Duplication MAT1A Amyotrophic lateral sclerosis
2 46560 10 82085841 82106480 Duplication DYDC1 Amyotrophic lateral sclerosis
3 46567 10 82106537 82117809 Duplication DYDC2 Amyotrophic lateral sclerosis
4 46573 10 82158221 82182733 Duplication PRXL2A Amyotrophic lateral sclerosis
5 46577 10 82204017 82272371 Duplication TSPAN14 Amyotrophic lateral sclerosis
6 47201 10 90414073 90428552 Duplication LIPF Amyotrophic lateral sclerosis
7 47210 10 90474280 90502493 Duplication LIPK Amyotrophic lateral sclerosis
8 47701 10 96786518 96819244 Duplication CYP2C8 Amyotrophic lateral sclerosis
9 47721 10 96943946 96978675 Duplication ACSM6 Amyotrophic lateral sclerosis
10 47727 10 96987319 97040771 Duplication PDLIM1 Amyotrophic lateral sclerosis
11 54765 11 47247774 47308158 Deletion MADD Amyotrophic lateral sclerosis
12 62870 12 112079360 112107667 Deletion DDX54 Amyotrophic lateral sclerosis
13 62876 12 112107937 112114502 Deletion RITA1 Amyotrophic lateral sclerosis
14 62877 12 112117628 112143263 Deletion IQCD Amyotrophic lateral sclerosis
15 62881 12 112143651 112218317 Deletion TPCN1 Amyotrophic lateral sclerosis
16 63147 12 114880763 115199526 Deletion MED13L Amyotrophic lateral sclerosis
17 63427 12 118607980 118799475 Duplication CIT Amyotrophic lateral sclerosis
18 63663 12 120055060 120108241 Duplication P2RX7 Amyotrophic lateral sclerosis
19 83346 14 20048470 20049121 Duplication RNASE10 Amyotrophic lateral sclerosis
20 87775 14 77010490 77034912 Duplication ISM2 Amyotrophic lateral sclerosis
21 90242 15 20700000 25700000 Deletion NIPA1 Amyotrophic lateral sclerosis
22 121729 18 46575487 46600432 Duplication MRO Amyotrophic lateral sclerosis
23 132132 19 5781636 5790742 Duplication FUT6 Amyotrophic lateral sclerosis
24 132144 19 5793898 5802485 Duplication FUT3 Amyotrophic lateral sclerosis
25 132191 19 5816836 5821551 Duplication FUT5 Amyotrophic lateral sclerosis
26 133247 19 62323320 62335105 Duplication USP29 Amyotrophic lateral sclerosis
27 136557 2 131390693 131521306 Duplication ARHGEF4 Amyotrophic lateral sclerosis
28 138288 2 160510571 160627367 Duplication PLA2R1 Amyotrophic lateral sclerosis
29 138296 2 160666478 160764836 Duplication ITGB6 Amyotrophic lateral sclerosis
30 138330 2 1614665 1727298 Duplication PXDN Amyotrophic lateral sclerosis
31 145228 2 3600727 3606384 Duplication RPS7 Amyotrophic lateral sclerosis
32 158294 21 30907875 30908094 Deletion KRTAP6-1 Amyotrophic lateral sclerosis
33 158297 21 30910644 30910815 Deletion KRTAP20-1 Amyotrophic lateral sclerosis
34 158301 21 30929453 30929651 Deletion KRTAP20-2 Amyotrophic lateral sclerosis
35 158303 21 30937053 30937326 Deletion KRTAP20-3 Amyotrophic lateral sclerosis
36 160007 21 46545474 46568213 Duplication C21orf58 Amyotrophic lateral sclerosis
37 163830 22 31238539 31732683 Deletion SYN3 Amyotrophic lateral sclerosis
38 170223 3 152127043 152173476 Duplication CLRN1 Amyotrophic lateral sclerosis
39 222482 7 152600000 155100000 Deletion DPP6 Amyotrophic lateral sclerosis
40 245256 9 1040619 1047553 Duplication DMRT2 Amyotrophic lateral sclerosis
41 245707 9 111442892 111753577 Deletion PALM2 Amyotrophic lateral sclerosis
42 246002 9 115151632 115173334 Duplication BSPRY Amyotrophic lateral sclerosis
43 246007 9 115175518 115178162 Duplication HDHD3 Amyotrophic lateral sclerosis
44 256759 9 966963 981732 Duplication DMRT3 Amyotrophic lateral sclerosis
45 256144 9 89771178 89779487 Duplication CDK20 Amyotrophic lateral sclerosis
46 256131 9 89687591 89693634 Duplication SPATA31E1 Amyotrophic lateral sclerosis
47 255504 9 79525010 79836012 Deletion GNAQ Amyotrophic lateral sclerosis
48 255434 9 78628000 78710823 Duplication PRUNE2 Amyotrophic lateral sclerosis
49 248351 9 134843918 134856904 Duplication GFI1B Amyotrophic lateral sclerosis
50 248324 9 134744110 134755239 Duplication SPACA9 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)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 ACTN3 actinin alpha 3 Skeletal Muscle - 5.49 0.000
2 MYH8 myosin heavy chain 8 Skeletal Muscle + 3.89 0.000
3 PRUNE2 prune homolog 2 with BCH domain Skeletal Muscle + 3.83 0.001
4 CHRNA1 cholinergic receptor nicotinic alpha 1 subunit Skeletal Muscle + 3.82 0.000
5 COL19A1 collagen type XIX alpha 1 chain 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 associated 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 8 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:

36
# Name Kegg Source Accession
1 Amyotrophic lateral sclerosis hsa05014

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.78 VCP VAPB UBQLN2 TUBA4A TARDBP SQSTM1
2 12.25 TARDBP SOD1 OPTN NEFH DCTN1
3
Show member pathways
11.49 TUBA4A PRPH NEFH DCTN1
4 11.09 SOD1 PFN1 NEFH ERBB4
5 11.01 SOD1 PRPH NEFH

GO Terms for Amyotrophic Lateral Sclerosis 1

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.17 VCP UBQLN2 TARDBP SQSTM1 SOD1 PFN1
2 cytoplasm GO:0005737 9.83 VCP VAPB UBQLN2 TUBA4A TARDBP SQSTM1
3 cytoplasmic vesicle GO:0031410 9.63 UBQLN2 SQSTM1 SOD1 OPTN C9orf72 ANG
4 cytoplasmic stress granule GO:0010494 9.43 VCP TARDBP C9orf72
5 autophagosome GO:0005776 8.92 UBQLN2 SQSTM1 OPTN C9orf72

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

# Name GO ID Score Top Affiliating Genes
1 regulation of autophagosome assembly GO:2000785 9.16 UBQLN2 C9orf72
2 autophagy GO:0006914 9.02 VCP UBQLN2 SQSTM1 OPTN C9orf72
3 neurofilament cytoskeleton organization GO:0060052 8.96 SOD1 NEFH

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.13 VCP VAPB UBQLN2 TUBA4A TARDBP SQSTM1
2 identical protein binding GO:0042802 9.28 VCP UBQLN2 TARDBP SQSTM1 SOD1 OPTN
3 K63-linked polyubiquitin modification-dependent protein binding GO:0070530 9.26 SQSTM1 OPTN
4 polyubiquitin modification-dependent protein binding GO:0031593 9.13 VCP UBQLN2 OPTN

Sources for Amyotrophic Lateral Sclerosis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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