ALS1
MCID: AMY091
MIFTS: 87

Amyotrophic Lateral Sclerosis 1 (ALS1)

Categories: Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Amyotrophic Lateral Sclerosis 1

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 1:

Name: Amyotrophic Lateral Sclerosis 1 57 11 73 36 71
Amyotrophic Lateral Sclerosis 57 11 24 19 42 52 58 75 73 28 53 5 41 2 14 71 33
Als 11 19 42 58 73 2 75
Amyotrophic Lateral Sclerosis Type 1 11 19 28 5 14
Lou Gehrig Disease 24 19 42 58 73
Charcot Disease 19 42 58 75 73
Als1 57 11 19 73
Amyotrophic Lateral Sclerosis, Susceptibility to 57 28 5
Familial Amyotrophic Lateral Sclerosis 73 16
Motor Neuron Disease 73 71
Lou Gehrig's Disease 11 75
Fals 57 73
Mnd 19 73
Amyotrophic Lateral Sclerosis 1, Autosomal Dominant 57
Motor Neuron Disease, Amyotrophic Lateral Sclerosis 42
Amyotrophic Lateral Sclerosis with Dementia 42
Dementia with Amyotrophic Lateral Sclerosis 42
Amyotrophic Lateral Sclerosis 1, Familial 57
Sclerosis, Lateral, Amyotrophic, Type 1 38
Als - [amyotrophic Lateral Sclerosis] 33
Sclerosis, Lateral, Amyotrophic 38
Progressive Atrophic Paralysis 33
Spinal Progressive Amyotrophy 33
Motor Neuron Disease, Bulbar 11
Amyotrophy Lateral Sclerosis 33
Motor Neurone Disease 19
Amyotrophic Sclerosis 33
Amyotrophic Paralysis 33
Wasting Paralysis 33
Wasting Palsy 33

Characteristics:


Inheritance:

Amyotrophic Lateral Sclerosis 1: Autosomal dominant 57
Amyotrophic Lateral Sclerosis: Autosomal dominant,Autosomal recessive 58

Prevelance:

Amyotrophic Lateral Sclerosis: 1-9/100000 (Europe, Europe, United Kingdom, United Kingdom, Ireland, Ireland, Finland, Finland, Canada, United States, Uruguay, Uruguay, Denmark, Denmark, Italy, France, Spain, Spain, Norway, Norway, Taiwan, Province of China, Faroe Islands, Iran, Islamic Republic of, Specific population, Specific population, Specific population) 1-9/1000000 (Taiwan, Province of China, Iran, Islamic Republic of) 1-5/10000 (Specific population) 58

Age Of Onset:

Amyotrophic Lateral Sclerosis: Adult 58

Age Of Death:

Amyotrophic Lateral Sclerosis: adult 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
genetic heterogeneity
approximately 10% of als cases are familial


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:0060193 DOID:332
OMIM® 57 105400
OMIM Phenotypic Series 57 PS105400
ICD9CM 34 335.20
MeSH 43 D000690
NCIt 49 C34373
SNOMED-CT 68 86044005
ICD10 31 G12.2
MESH via Orphanet 44 D000690
ICD10 via Orphanet 32 G12.2
UMLS via Orphanet 72 C0002736
Orphanet 58 ORPHA803
UMLS 71 C0002736 C0085084 C1862939

Summaries for Amyotrophic Lateral Sclerosis 1

MedlinePlus Genetics: 42 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 frontotemporal dementia, and has symptoms including back pain, headache and pain. An important gene associated with Amyotrophic Lateral Sclerosis 1 is SOD1 (Superoxide Dismutase 1), and among its related pathways/superpathways are Neuroscience and Physico-chemical features and toxicity-associated pathways. The drugs Riluzole and Mexiletine 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

GARD: 19 Amyotrophic lateral sclerosis (ALS), also referred to as "Lou Gehrig's disease," is a 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 may become weaker and are eventually wheelchair-dependent. 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 (pathogenic 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 genetic changes (pathogenic variants) 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. Diagnosis of ALS is based on symptoms and a variety of tests to rule out other possible medical diseases that can cause similar symptoms.

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 neurodegeneration. 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 24-Oct-2022)

UniProtKB/Swiss-Prot 73 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.

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.

NINDS: 52 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.

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: 2 Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a progressive and fatal disease, attacking neurons that control voluntary movement. These neurons die over time. The result is the gradual loss of muscle movement, speech, swallowing, and eventually, breathing. Unfortunately, people with ALS usually have a shortened lifespan and may die within a few years of diagnosis. ALS is most common in whites, males, and people over the age of 60. There are between 24,000 and 31,000 people living with ALS in United States as of 2017.

Disease Ontology 11 Amyotrophic lateral sclerosis type 1: The most common type of familial ALS that has material basis in mutation in the SOD1 gene on chromosome 21.

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

Orphanet: 58 A neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.

Wikipedia 75 Amyotrophic lateral sclerosis: Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND) or Lou Gehrig's disease,... more...

Charcot disease: Charcot-Marie-Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous... 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

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

(show top 50) (show all 1375)
# Related Disease Score Top Affiliating Genes
1 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 35.3 VCP VAPB UBQLN2 TBK1 TARDBP SQSTM1
2 frontotemporal dementia 35.2 VCP VAPB UBQLN2 TBK1 TARDBP SQSTM1
3 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 34.8 VAPB UBQLN2 TARDBP SOD1 OPTN FUS
4 amyotrophic lateral sclerosis 8 34.7 VAPB UBQLN2 TARDBP SOD1 OPTN FUS
5 amyotrophic lateral sclerosis 16, juvenile 34.7 VCP VAPB UBQLN2 SOD1 OPTN FUS
6 amyotrophic lateral sclerosis 11 34.6 VAPB TARDBP SOD1 OPTN FUS FIG4
7 amyotrophic lateral sclerosis type 14 34.5 VCP VAPB UBQLN2 SOD1 OPTN FUS
8 amyotrophic lateral sclerosis 18 34.4 VAPB UBQLN2 SOD1 FUS FIG4 CHMP2B
9 amyotrophic lateral sclerosis type 15 34.4 VCP VAPB UBQLN2 SOD1 OPTN FIG4
10 amyotrophic lateral sclerosis type 12 34.4 VAPB UBQLN2 TARDBP SOD1 OPTN FUS
11 inclusion body myopathy with paget disease of bone and frontotemporal dementia 34.4 VCP UBQLN2 TARDBP SQSTM1 SOD1 OPTN
12 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 34.3 TARDBP SOD1 FUS C9orf72
13 amyotrophic lateral sclerosis 19 34.3 UBQLN2 TARDBP SOD1 PRPH ERBB4 C9orf72
14 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 34.3 TARDBP SQSTM1 PRPH CHMP2B C9orf72
15 amyotrophic lateral sclerosis 20 34.2 UBQLN2 SOD1 PRPH FIG4 C9orf72
16 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 34.1 VCP TARDBP FUS CHMP2B
17 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 34.1 TBK1 SOD1 PRPH C9orf72
18 charcot-marie-tooth disease 34.1 VCP VAPB UBQLN2 TARDBP SQSTM1 SOD1
19 pick disease of brain 34.0 VCP UBQLN2 TARDBP SQSTM1 SOD1 OPTN
20 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 34.0 TARDBP PRPH C9orf72
21 neuromuscular disease 34.0 VCP VAPB TARDBP SOD1 NEFH FUS
22 spinocerebellar ataxia 2 33.9 VCP VAPB UBQLN2 TARDBP SOD1 OPTN
23 amyotrophic lateral sclerosis type 22 33.9 UBQLN2 TARDBP PRPH C9orf72
24 dementia 33.8 VCP UBQLN2 TBK1 TARDBP SQSTM1 SOD1
25 nervous system disease 33.6 VCP TBK1 TARDBP SQSTM1 SOD1 OPTN
26 progressive bulbar palsy 33.5 VAPB UBQLN2 SOD1 NEFH FUS C9orf72
27 perry syndrome 33.4 VCP UBQLN2 TARDBP FUS DCTN1 CHMP2B
28 progressive muscular atrophy 33.3 VCP VAPB UBQLN2 TARDBP SOD1 OPTN
29 neuronopathy, distal hereditary motor, type viib 33.3 TARDBP FIG4 DCTN1
30 hereditary spastic paraplegia 33.2 VCP VAPB UBQLN2 TARDBP SQSTM1 SOD1
31 parkinson disease, late-onset 33.2 VCP VAPB SQSTM1 SOD1 PON1 FUS
32 alzheimer disease, familial, 1 33.1 VCP TARDBP SQSTM1 SOD1 PON1 NEFH
33 amyotrophic lateral sclerosis 4, juvenile 33.1 VAPB UBQLN2 TARDBP SOD1 FUS FIG4
34 lateral sclerosis 32.9 VCP VAPB UBQLN2 TBK1 TARDBP SQSTM1
35 supranuclear palsy, progressive, 1 32.8 VCP UBQLN2 TARDBP SOD1 NEFH FUS
36 aphasia 32.7 VCP TBK1 TARDBP OPTN LOC109504728 FUS
37 amyotrophic lateral sclerosis 21 32.7 VAPB SOD1 PRPH FUS FIG4
38 spinal muscular atrophy 32.6 VAPB SOD1 FUS DCTN1 C9orf72
39 paget's disease of bone 32.6 VCP UBQLN2 TBK1 TARDBP SQSTM1 OPTN
40 motor neuron disease 32.5 VCP VAPB UBQLN2 TBK1 TARDBP SQSTM1
41 movement disease 32.5 VCP TARDBP SOD1 FUS DCTN1 CHMP2B
42 autosomal dominant cerebellar ataxia 32.4 VCP UBQLN2 TARDBP SOD1 FUS C9orf72
43 peripheral nervous system disease 32.4 SQSTM1 SOD1 OPTN NEFH FUS FIG4
44 hemochromatosis, type 1 32.1 VAPB PON1 OPTN NEFH FUS FIG4
45 locked-in syndrome 32.0 TARDBP SOD1 FUS
46 multisystem proteinopathy 31.9 VCP UBQLN2 TARDBP SQSTM1 OPTN FUS
47 progressive non-fluent aphasia 31.9 VCP TBK1 CHMP2B C9orf72
48 hereditary ataxia 31.9 SOD1 FUS C9orf72
49 agraphia 31.8 VCP TARDBP CHMP2B C9orf72
50 creutzfeldt-jakob disease 31.8 TARDBP SOD1 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 30 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 amyotrophic lateral sclerosis 58 30 Obligate (100%) Obligate (100%)
HP:0007354
2 generalized muscle weakness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003324
3 neurodegeneration 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002180
4 spasticity 58 30 Frequent (33%) Frequent (79-30%)
HP:0001257
5 emotional lability 58 30 Frequent (33%) Frequent (79-30%)
HP:0000712
6 fatigue 58 30 Frequent (33%) Frequent (79-30%)
HP:0012378
7 skeletal muscle atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0003202
8 anxiety 58 30 Frequent (33%) Frequent (79-30%)
HP:0000739
9 dyspnea 58 30 Frequent (33%) Frequent (79-30%)
HP:0002094
10 respiratory failure 58 30 Frequent (33%) Frequent (79-30%)
HP:0002878
11 fatigable weakness of swallowing muscles 58 30 Frequent (33%) Frequent (79-30%)
HP:0030195
12 xerostomia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000217
13 pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0012531
14 muscle spasm 58 30 Frequent (33%) Frequent (79-30%)
HP:0003394
15 paralysis 58 30 Frequent (33%) Frequent (79-30%)
HP:0003470
16 fatigable weakness of respiratory muscles 58 30 Frequent (33%) Frequent (79-30%)
HP:0030196
17 depression 30 Frequent (33%) HP:0000716
18 nausea and vomiting 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002017
19 agitation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000713
20 laryngospasm 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025425
21 hyperreflexia 30 HP:0001347
22 depressivity 58 Frequent (79-30%)
23 sleep apnea 30 HP:0010535
24 muscle weakness 30 HP:0001324
25 fasciculations 30 HP:0002380
26 fatigable weakness of bulbar muscles 58 Frequent (79-30%)
27 pseudobulbar paralysis 30 HP:0007024
28 degeneration of anterior horn cells 30 HP:0002398
29 functional respiratory abnormality 58 Frequent (79-30%)
30 motor neuron atrophy 58 Very frequent (99-80%)
31 degeneration of the lateral corticospinal tracts 30 HP:0002314

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 24-Oct-2022)

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.28 C9orf72 CHMP2B DAO DCTN1 ERBB4 FIG4
2 homeostasis/metabolism MP:0005376 10.21 ANG C9orf72 DAO DCTN1 FUS NEFH
3 cellular MP:0005384 10.13 ANG C9orf72 CHMP2B DCTN1 ERBB4 FUS
4 behavior/neurological MP:0005386 10.07 C9orf72 CHMP2B DAO DCTN1 ERBB4 FIG4
5 immune system MP:0005387 9.97 ANG C9orf72 CHMP2B DCTN1 ERBB4 FIG4
6 hematopoietic system MP:0005397 9.77 ANG C9orf72 CHMP2B DCTN1 ERBB4 FIG4
7 mortality/aging MP:0010768 9.44 ANG C9orf72 CHMP2B DCTN1 ERBB4 FIG4

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 344)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
2
Mexiletine Approved, Investigational Phase 4 5370-01-4, 31828-71-4 4178
3
Dronabinol Approved, Illicit Phase 4 1972-08-3 16078
4
Cannabidiol Approved, Investigational Phase 4 13956-29-1 521372 644019
5 Coconut Approved Phase 4
6 Excitatory Amino Acid Antagonists Phase 4
7 Anticonvulsants Phase 4
8 Neuroprotective Agents Phase 4
9 Anti-Arrhythmia Agents Phase 4
10 Sodium Channel Blockers Phase 4
11 Diuretics, Potassium Sparing Phase 4
12
Olanzapine Approved, Investigational Phase 2, Phase 3 132539-06-1 135398745 4585
13
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
14
Mecobalamin Approved, Investigational Phase 2, Phase 3 13422-55-4
15
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 15589840 44475014
16
Guaifenesin Approved, Investigational, Vet_approved Phase 3 93-14-1 3516
17
Quinidine Approved, Investigational Phase 3 56-54-2, 130-95-0, 804-63-7 1065 441074 3034034 8549
18
Dextromethorphan Approved Phase 3 125-71-3 5362449 5360696
19
Cathine Approved, Experimental, Illicit, Vet_approved, Withdrawn Phase 3 14838-15-4, 492-39-7 131954576 4786 26934
20
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
21
Minocycline Approved, Investigational Phase 3 10118-90-8, 13614-98-7 54675783 5281021
22
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
23
Ceftriaxone Approved Phase 3 73384-59-5 5479530
24
Mecasermin Approved, Investigational Phase 3 68562-41-4
25
Citalopram Approved Phase 3 59729-32-7, 59729-33-8 2771
26
Iron Approved Phase 2, Phase 3 7439-89-6 29936
27
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
28
Memantine Approved, Investigational Phase 2, Phase 3 41100-52-1, 19982-08-2 4054
29
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
30
Tannic acid Approved Phase 3 1401-55-4 16129878 16129778
31
Abacavir Approved, Investigational Phase 3 136470-78-5, 188062-50-2 441300
32
Lamivudine Approved, Investigational Phase 3 134678-17-4 60825
33
Dolutegravir Approved Phase 3 1051375-16-6 57414794 54726191
34
Trazodone Approved, Investigational Phase 2, Phase 3 19794-93-5 5533
35
Coal tar Approved Phase 2, Phase 3 8007-45-2
36
Edaravone Approved, Investigational Phase 3 89-25-8 70335 4021
37
Lithium carbonate Approved Phase 2, Phase 3 554-13-2
38
Dopamine Approved Phase 3 62-31-7, 51-61-6 681
39
Sodium citrate Approved, Investigational Phase 3 68-04-2 23431961
40
Pramipexole Approved, Investigational Phase 3 104632-26-0, 104632-25-9, 104632-28-2 4885 119570 59868
41
Ravulizumab Approved, Investigational Phase 3 1803171-55-2
42
Cyanocobalamin Approved, Nutraceutical Phase 2, Phase 3 68-19-9 24892734 16212801 44176380
43
Ubidecarenone Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
44
D-Tyrosine Approved, Experimental, Investigational, Nutraceutical Phase 3 133585-56-5, 556-02-5, 60-18-4 1153 6057
45
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
46
Cobalamin Experimental Phase 2, Phase 3 13408-78-1 6857388
47
Dexetimide Withdrawn Phase 3 21888-98-2 30843
48
Simendan Investigational Phase 3 131741-08-7
49
Nabiximols Investigational Phase 2, Phase 3 56575-23-6
50
Trichostatin A Experimental Phase 3 58880-19-6 5562 444732

Interventional clinical trials:

(show top 50) (show all 711)
# 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 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
4 Feasibility of Telesurveillance and Home Cough Assistance for Amyotrophic Lateral Patients (ALS) Completed NCT00613899 Phase 4
5 EMERALD TRIAL Open-Label Extension Study (EMERALD OLE) Not yet recruiting NCT04997954 Phase 4 MediCabilis CBD oil
6 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
7 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
8 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
9 A Multicenter, Randomized, Double-Blind, Placebo-Controlled Phase 2 Study of Cu(II)ATSM in Patients With Amyotrophic Lateral Sclerosis/Motor Neuron Disease Unknown status NCT04082832 Phase 2, Phase 3 Cu(II)ATSM;Placebos
10 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
11 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
12 A Study to Evaluate the Efficacy, Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of BIIB067 Administered to Adult Subjects With Amyotrophic Lateral Sclerosis and Confirmed Superoxide Dismutase 1 Mutation Completed NCT02623699 Phase 3 BIIB067
13 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
14 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
15 Repetitive Transcranial Magnetic Stimulation in Amyotrophic Lateral Sclerosis Completed NCT00833820 Phase 2, Phase 3
16 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
17 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
18 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
19 An Open-label Safety Extension Study of TRO19622 in Amyotrophic Lateral Sclerosis (ALS) Patients Treated With Riluzole Completed NCT01285583 Phase 2, Phase 3 TRO19622
20 Phase 2-3 - Memantine for Disability in Amyotrophic Lateral Sclerosis Completed NCT00353665 Phase 2, Phase 3 Memantine (Ebixa);riluzole;Placebo
21 A Phase II/III Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00444613 Phase 2, Phase 3 E0302 (mecobalamin);Placebo
22 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
23 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
24 A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00445172 Phase 2, Phase 3 E0302 (mecobalamin)
25 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
26 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
27 Randomized Crossover Design Trial of Vitamin E vs Placebo for Treatment of Cramps in Amyotrophic Lateral Sclerosis. Completed NCT00372879 Phase 3
28 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)
29 Minocycline to Treat Amyotrophic Lateral Sclerosis Completed NCT00047723 Phase 3 minocycline
30 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
31 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
32 Clinical Trial Ceftriaxone in Subjects With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00349622 Phase 3 ceftriaxone
33 Insulin-like Growth Factor-1 in Amyotrophic Lateral Sclerosis (ALS) Completed NCT00035815 Phase 3 Insulin like growth factor, type 1;Placebo
34 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
35 Effect of Intrathecal Administration of Hematopoietic Stem Cells in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT01933321 Phase 2, Phase 3
36 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
37 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)
38 A Phase 3, Randomised, Placebo-Controlled Trial of Arimoclomol in Amyotropic Lateral Sclerosis Completed NCT03491462 Phase 3 Arimoclomol;Placebo oral capsule
39 Effects of Oral Levosimendan (ODM-109) on Respiratory Function in Patients With ALS Completed NCT03505021 Phase 3 Levosimendan;Placebo for levosimendan
40 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
41 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
42 Noninvasive Ventilation in ALS Patients With Mild Respiratory Involvement Completed NCT00386464 Phase 2, Phase 3
43 A Randomized, Double-Blind, Placebo-Controlled Sequential Clinical Trial of Sodium Valproate in ALS Completed NCT00136110 Phase 3 Sodium Valproate
44 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
45 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)
46 A Phase 1-3 Study to Evaluate the Efficacy, Safety, Pharmacokinetics and Pharmacodynamics of Intrathecally Administered ION363 in Amyotrophic Lateral Sclerosis Patients With Fused in Sarcoma Mutations (FUS-ALS) Recruiting NCT04768972 Phase 3 ION363;Placebo
47 A Phase III, Randomized, Double-Blind, Placebo-Controlled, Multicenter Trial to Evaluate the Safety and Efficacy of AMX0035 Versus Placebo for 48-week Treatment of Adult Patients With Amyotrophic Lateral Sclerosis (ALS) Recruiting NCT05021536 Phase 3 AMX0035
48 A Phase 3b, Multicenter, Randomized, Double-blind Extension Study to Evaluate the Continued Efficacy and Safety of Oral Edaravone Administered for an Additional Period of up to 48 Weeks Following Study MT-1186-A02 in Subjects With Amyotrophic Lateral Sclerosis (ALS) Recruiting NCT05151471 Phase 3 MT-1186;Placebo
49 A Phase 3, Multi-Center, Double-Blind, Randomized, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of Reldesemtiv in Patients With Amyotrophic Lateral Sclerosis (ALS) Recruiting NCT04944784 Phase 3 Reldesemtiv;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 71 / NDF-RT 50 :


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 28 C9orf72 OPTN UBQLN2 VCP
2 Amyotrophic Lateral Sclerosis Type 1 28 DCTN1 NEFH PRPH SOD1
3 Amyotrophic Lateral Sclerosis, Susceptibility to 28

Anatomical Context for Amyotrophic Lateral Sclerosis 1

Organs/tissues related to Amyotrophic Lateral Sclerosis 1:

MalaCards : Spinal Cord, Bone Marrow, Brain, Skeletal Muscle, Cortex, Bone, Tongue
ODiseA: Peripheral Nerve, Brain-Cortex, Brain, Spinal Cord
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 31582)
# Title Authors PMID Year
1
Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. 53 62 57 5
9029070 1997
2
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. 62 57 5
20577002 2010
3
An immunological epitope selective for pathological monomer-misfolded SOD1 in ALS. 62 57 5
17486090 2007
4
The G93C mutation in superoxide dismutase 1: clinicopathologic phenotype and prognosis. 62 57 5
16476815 2006
5
A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis. 62 57 5
15322088 2004
6
Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor. 62 57 5
9817920 1998
7
Genetics of amyotrophic lateral sclerosis. 62 57 5
8875253 1996
8
Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. 62 57 5
7647793 1995
9
Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis. 62 57 5
7887412 1995
10
Cu/Zn superoxide dismutase (SOD1) mutations and sporadic amyotrophic lateral sclerosis. 62 57 5
8105280 1993
11
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. 62 57 5
8351519 1993
12
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. 62 57 5
8446170 1993
13
Rapid disease progression correlates with instability of mutant SOD1 in familial ALS. 57 5
16291929 2005
14
Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. 57 5
15326253 2004
15
The inheritance of progressive muscular atrophy as a dominant trait in two New England families. 57 5
13804989 1960
16
"Wetherbee Ail"; the inheritance of progressive muscular atrophy as a dominant trait in two New England families. 57 5
14875225 1951
17
Lack of evidence of monomer/misfolded superoxide dismutase-1 in sporadic amyotrophic lateral sclerosis. 53 62 57
19670443 2009
18
A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS. 53 62 57
19321847 2009
19
Expression of Nogo-A in human muscle fibers is not specific for amyotrophic lateral sclerosis. 53 62 57
17894379 2007
20
Lack of TDP-43 abnormalities in mutant SOD1 transgenic mice shows disparity with ALS. 53 62 5
17543992 2007
21
SMN1 gene, but not SMN2, is a risk factor for sporadic ALS. 53 62 57
16931506 2006
22
Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD. 53 62 5
16240349 2005
23
A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis. 53 62 5
15446584 2004
24
[Clinical features and neuropathological findings of familial amyotrophic lateral sclerosis with an H43R mutation in Cu/Zn superoxide dismutase]. 53 62 5
14658402 2003
25
A4T mutation in the SOD1 gene causing familial amyotrophic lateral sclerosis. 53 62 5
12792143 2003
26
Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes. 53 62 5
14506936 2003
27
Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene. 53 62 57
11951178 2002
28
Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis. 53 62 57
11835381 2002
29
A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressive familial amyotrophic lateral sclerosis. 53 62 5
10624810 1999
30
SOD1 mutants linked to amyotrophic lateral sclerosis selectively inactivate a glial glutamate transporter. 53 62 5
10321246 1999
31
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. 53 62 5
10735277 1997
32
Familial amyotrophic lateral sclerosis with a mutation in exon 4 of the Cu/Zn superoxide dismutase gene: pathological and immunocytochemical changes. 53 62 5
8891072 1996
33
Transgenic mice carrying a human mutant superoxide dismutase transgene develop neuronal cytoskeletal pathology resembling human amyotrophic lateral sclerosis lesions. 53 62 57
8610185 1996
34
A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan. 53 62 5
8907321 1996
35
SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis. 53 62 5
8572658 1996
36
Familial amyotrophic lateral sclerosis with a point mutation of SOD-1: intrafamilial heterogeneity of disease duration associated with neurofibrillary tangles. 53 62 5
7673954 1995
37
Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients. 53 62 5
7643359 1995
38
Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity. 53 62 5
8058797 1994
39
A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis. 53 62 5
8179602 1994
40
Evolution of a Human-Specific Tandem Repeat Associated with ALS. 62 57
32750315 2020
41
Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database. 62 5
32579787 2020
42
Clinical and genetic features of patients with amyotrophic lateral sclerosis in southern China. 62 5
32166880 2020
43
New phenotype of DCTN1-related spectrum: early-onset dHMN plus congenital foot deformity. 62 5
32023010 2020
44
Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia. 62 57
32733193 2020
45
Genotype-phenotype correlation and evidence for a common ancestor in two Italian ALS patients with the D124G SOD1 mutation. 62 5
31170830 2019
46
Potential roles of gut microbiome and metabolites in modulating ALS in mice. 62 57
31330533 2019
47
Transgenic and physiological mouse models give insights into different aspects of amyotrophic lateral sclerosis. 62 5
30626575 2019
48
Screening for possible oligogenic pathogenesis in Chinese sporadic ALS patients. 62 5
29411640 2018
49
Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese. 62 5
29149916 2017
50
Burden of rare variants in ALS genes influences survival in familial and sporadic ALS. 62 5
28709720 2017

Variations for Amyotrophic Lateral Sclerosis 1

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 1:

5 (show top 50) (show all 929)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SOD1 NM_000454.5(SOD1):c.112G>A (p.Gly38Arg) SNV Pathogenic
Pathogenic
14752 rs121912431 GRCh37: 21:33036142-33036142
GRCh38: 21:31663829-31663829
2 SOD1 NM_000454.5(SOD1):c.124G>A (p.Gly42Ser) SNV Pathogenic
14754 rs121912433 GRCh37: 21:33036154-33036154
GRCh38: 21:31663841-31663841
3 SOD1 NM_000454.5(SOD1):c.280G>T (p.Gly94Cys) SNV Pathogenic
Likely Pathogenic
14759 rs121912437 GRCh37: 21:33039611-33039611
GRCh38: 21:31667298-31667298
4 SOD1 NM_000454.5(SOD1):c.281G>C (p.Gly94Ala) SNV Pathogenic
14760 rs121912438 GRCh37: 21:33039612-33039612
GRCh38: 21:31667299-31667299
5 SOD1 NM_000454.5(SOD1):c.302A>G (p.Glu101Gly) SNV Pathogenic
14761 rs121912439 GRCh37: 21:33039633-33039633
GRCh38: 21:31667320-31667320
6 SOD1 NM_000454.5(SOD1):c.338T>C (p.Ile113Thr) SNV Pathogenic
14762 rs74315452 GRCh37: 21:33039669-33039669
GRCh38: 21:31667356-31667356
7 SOD1 NM_000454.5(SOD1):c.455T>C (p.Ile152Thr) SNV Pathogenic
Uncertain Significance
14772 rs121912449 GRCh37: 21:33040881-33040881
GRCh38: 21:31668568-31668568
8 SOD1 NM_000454.5(SOD1):c.64G>A (p.Glu22Lys) SNV Pathogenic
14773 rs121912450 GRCh37: 21:33032146-33032146
GRCh38: 21:31659833-31659833
9 SOD1 NM_000454.5(SOD1):c.404G>A (p.Ser135Asn) SNV Pathogenic
14774 rs121912451 GRCh37: 21:33040830-33040830
GRCh38: 21:31668517-31668517
10 SOD1 NM_000454.5(SOD1):c.253T>G (p.Leu85Val) SNV Pathogenic
14775 rs121912452 GRCh37: 21:33039584-33039584
GRCh38: 21:31667271-31667271
11 SOD1 NM_000454.5(SOD1):c.49G>A (p.Gly17Ser) SNV Pathogenic
14776 rs121912453 GRCh37: 21:33032131-33032131
GRCh38: 21:31659818-31659818
12 SOD1 NM_000454.5(SOD1):c.380T>A (p.Leu127Ter) SNV Pathogenic
14777 rs121912454 GRCh37: 21:33040806-33040806
GRCh38: 21:31668493-31668493
13 SOD1 NM_000454.5(SOD1):c.358-11A>G SNV Pathogenic
14778 rs369600566 GRCh37: 21:33040773-33040773
GRCh38: 21:31668460-31668460
14 SOD1 NM_000454.5(SOD1):c.137T>G (p.Phe46Cys) SNV Pathogenic
14781 rs121912457 GRCh37: 21:33036167-33036167
GRCh38: 21:31663854-31663854
15 SOD1 NM_000454.5(SOD1):c.435G>T (p.Leu145Phe) SNV Pathogenic
Pathogenic
873203 rs1482760341 GRCh37: 21:33040861-33040861
GRCh38: 21:31668548-31668548
16 C9orf72, LOC109504728 NC_000009.12:g.27573529_27573534GGCCCC[60_?] MICROSAT Pathogenic
1343330 GRCh37:
GRCh38: 9:27573529-27573534
17 SOD1 NM_000454.5(SOD1):c.229G>T (p.Asp77Tyr) SNV Pathogenic
805494 rs1601157750 GRCh37: 21:33038821-33038821
GRCh38: 21:31666508-31666508
18 SOD1 NM_000454.5(SOD1):c.449T>C (p.Ile150Thr) SNV Pathogenic
1455194 GRCh37: 21:33040875-33040875
GRCh38: 21:31668562-31668562
19 SOD1 NM_000454.5(SOD1):c.125G>A (p.Gly42Asp) SNV Pathogenic
14755 rs121912434 GRCh37: 21:33036155-33036155
GRCh38: 21:31663842-31663842
20 SOD1 NM_000454.5(SOD1):c.319C>G (p.Leu107Val) SNV Pathogenic
Uncertain Significance
14757 rs121912440 GRCh37: 21:33039650-33039650
GRCh38: 21:31667337-31667337
21 SOD1 NM_000454.5(SOD1):c.14C>T (p.Ala5Val) SNV Pathogenic
14763 rs121912442 GRCh37: 21:33032096-33032096
GRCh38: 21:31659783-31659783
22 SOD1 NM_000454.5(SOD1):c.140A>G (p.His47Arg) SNV Pathogenic
Pathogenic
14764 rs121912443 GRCh37: 21:33036170-33036170
GRCh38: 21:31663857-31663857
23 SOD1 NM_000454.5(SOD1):c.13G>A (p.Ala5Thr) SNV Pathogenic
Pathogenic
14765 rs121912444 GRCh37: 21:33032095-33032095
GRCh38: 21:31659782-31659782
24 SOD1 NM_000454.5(SOD1):c.434T>C (p.Leu145Ser) SNV Pathogenic
14768 rs121912446 GRCh37: 21:33040860-33040860
GRCh38: 21:31668547-31668547
25 SOD1 NM_000454.5(SOD1):c.341T>C (p.Ile114Thr) SNV Pathogenic
197145 rs121912441 GRCh37: 21:33039672-33039672
GRCh38: 21:31667359-31667359
26 SOD1 NM_000454.5(SOD1):c.260A>G (p.Asn87Ser) SNV Pathogenic
468253 rs11556620 GRCh37: 21:33039591-33039591
GRCh38: 21:31667278-31667278
27 SOD1 NM_000454.5(SOD1):c.301G>A (p.Glu101Lys) SNV Pathogenic
Likely Pathogenic
574319 rs76731700 GRCh37: 21:33039632-33039632
GRCh38: 21:31667319-31667319
28 DCTN1 NM_004082.5(DCTN1):c.279+1G>C SNV Pathogenic
Uncertain Significance
Uncertain Significance
447236 rs1393363759 GRCh37: 2:74605126-74605126
GRCh38: 2:74377999-74377999
29 SOD1 NM_000454.5(SOD1):c.281G>A (p.Gly94Asp) SNV Pathogenic
1072003 GRCh37: 21:33039612-33039612
GRCh38: 21:31667299-31667299
30 TBK1 NM_013254.4(TBK1):c.701+1G>A SNV Pathogenic
643946 rs1592362719 GRCh37: 12:64868171-64868171
GRCh38: 12:64474391-64474391
31 SOD1 NM_000454.5(SOD1):c.131A>G (p.His44Arg) SNV Pathogenic
14756 rs121912435 GRCh37: 21:33036161-33036161
GRCh38: 21:31663848-31663848
32 SOD1 NM_000454.5(SOD1):c.358-10T>G SNV Pathogenic
14770 rs1197141604 GRCh37: 21:33040774-33040774
GRCh38: 21:31668461-31668461
33 SOD1 NM_000454.5(SOD1):c.242A>G (p.His81Arg) SNV Pathogenic
14782 rs121912458 GRCh37: 21:33039573-33039573
GRCh38: 21:31667260-31667260
34 SOD1 NM_000454.5(SOD1):c.443G>A (p.Gly148Asp) SNV Pathogenic
536142 rs1555836950 GRCh37: 21:33040869-33040869
GRCh38: 21:31668556-31668556
35 DCTN1 NM_004082.5(DCTN1):c.175G>A (p.Gly59Ser) SNV Pathogenic
8401 rs121909342 GRCh37: 2:74605231-74605231
GRCh38: 2:74378104-74378104
36 SOD1 NM_000454.5(SOD1):c.317C>T (p.Ser106Leu) SNV Pathogenic
Pathogenic
695024 rs1378590183 GRCh37: 21:33039648-33039648
GRCh38: 21:31667335-31667335
37 SOD1 NM_000454.5(SOD1):c.50G>C (p.Gly17Ala) SNV Pathogenic
586638 rs1200906022 GRCh37: 21:33032132-33032132
GRCh38: 21:31659819-31659819
38 SOD1 NM_000454.5(SOD1):c.255G>C (p.Leu85Phe) SNV Pathogenic
855744 rs1315541036 GRCh37: 21:33039586-33039586
GRCh38: 21:31667273-31667273
39 DCTN1 NM_004082.5(DCTN1):c.175G>C (p.Gly59Arg) SNV Pathogenic
1458171 GRCh37: 2:74605231-74605231
GRCh38: 2:74378104-74378104
40 SOD1 NM_000454.5(SOD1):c.62T>G (p.Phe21Cys) SNV Pathogenic
1459352 GRCh37: 21:33032144-33032144
GRCh38: 21:31659831-31659831
41 SOD1 NM_000454.5(SOD1):c.20G>T (p.Cys7Phe) SNV Pathogenic
14771 rs121912448 GRCh37: 21:33032102-33032102
GRCh38: 21:31659789-31659789
42 SOD1 NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) SNV Pathogenic
Conflicting Interpretations Of Pathogenicity
14766 rs80265967 GRCh37: 21:33039603-33039603
GRCh38: 21:31667290-31667290
43 SOD1 NM_000454.5(SOD1):c.358-304= SNV Pathogenic
14786 GRCh37: 21:33040480-33040480
GRCh38: 21:31668167-31668167
44 SOD1 NM_000454.5(SOD1):c.352C>G (p.Leu118Val) SNV Pathogenic/Likely Pathogenic
809280 rs199474723 GRCh37: 21:33039683-33039683
GRCh38: 21:31667370-31667370
45 SOD1 NM_000454.5(SOD1):c.446T>G (p.Val149Gly) SNV Pathogenic/Likely Pathogenic
873204 rs1476760624 GRCh37: 21:33040872-33040872
GRCh38: 21:31668559-31668559
46 SOD1 NM_000454.5(SOD1):c.262G>A (p.Val88Met) SNV Likely Pathogenic
873199 rs1568810641 GRCh37: 21:33039593-33039593
GRCh38: 21:31667280-31667280
47 VCP NM_007126.5(VCP):c.283C>T (p.Arg95Cys) SNV Likely Pathogenic
280124 rs121909332 GRCh37: 9:35067907-35067907
GRCh38: 9:35067910-35067910
48 SOD1 NM_000454.5(SOD1):c.230A>T (p.Asp77Val) SNV Likely Pathogenic
1030809 rs1568810316 GRCh37: 21:33038822-33038822
GRCh38: 21:31666509-31666509
49 SOD1 NM_000454.5(SOD1):c.263T>C (p.Val88Ala) SNV Likely Pathogenic
858432 rs1339283341 GRCh37: 21:33039594-33039594
GRCh38: 21:31667281-31667281
50 TBK1 NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del) MICROSAT Likely Pathogenic
807508 rs1402092579 GRCh37: 12:64891001-64891003
GRCh38: 12:64497221-64497223

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

73 (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 rs1568807330
7 SOD1 p.Val15Met VAR_007133 rs1568807400
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 rs1568809175
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 rs1568810721
26 SOD1 p.Asp102Asn VAR_007152 rs1568810715
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 rs1301635320
31 SOD1 p.Asp126His VAR_007157 rs1568811372
32 SOD1 p.Ser135Asn VAR_007158 rs121912451
33 SOD1 p.Asn140Lys VAR_007159 rs1804449
34 SOD1 p.Leu145Phe VAR_007160 rs1482760341
35 SOD1 p.Val149Gly VAR_007161 rs1476760624
36 SOD1 p.Val149Ile VAR_007162 rs567511139
37 SOD1 p.Ile150Thr VAR_007163 rs1424014997
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 rs1568811366
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 rs1568807342
48 SOD1 p.Leu9Val VAR_013520 rs1568807333
49 SOD1 p.Gly13Arg VAR_013521 rs121912456
50 SOD1 p.Val15Gly VAR_013522 rs1202989817

Copy number variations for Amyotrophic Lateral Sclerosis 1 from CNVD:

6 (show top 50) (show all 271)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 13850 1 10015602 10163883 Deletion UBE4B Amyotrophic lateral sclerosis
2 47201 10 90414073 90428552 Duplication LIPF Amyotrophic lateral sclerosis
3 47210 10 90474280 90502493 Duplication LIPK Amyotrophic lateral sclerosis
4 47701 10 96786518 96819244 Duplication CYP2C8 Amyotrophic lateral sclerosis
5 47721 10 96943946 96978675 Duplication ACSM6 Amyotrophic lateral sclerosis
6 47727 10 96987319 97040771 Duplication PDLIM1 Amyotrophic lateral sclerosis
7 62870 12 112079360 112107667 Deletion DDX54 Amyotrophic lateral sclerosis
8 62876 12 112107937 112114502 Deletion RITA1 Amyotrophic lateral sclerosis
9 62877 12 112117628 112143263 Deletion IQCD Amyotrophic lateral sclerosis
10 62881 12 112143651 112218317 Deletion TPCN1 Amyotrophic lateral sclerosis
11 63147 12 114880763 115199526 Deletion MED13L Amyotrophic lateral sclerosis
12 63427 12 118607980 118799475 Duplication CIT Amyotrophic lateral sclerosis
13 63663 12 120055060 120108241 Duplication P2RX7 Amyotrophic lateral sclerosis
14 81727 14 104462231 104470618 Duplication PLD4 Amyotrophic lateral sclerosis
15 81733 14 104474635 104515739 Duplication AHNAK2 Amyotrophic lateral sclerosis
16 81744 14 104523660 104532900 Duplication CLBA1 Amyotrophic lateral sclerosis
17 83346 14 20048470 20049121 Duplication RNASE10 Amyotrophic lateral sclerosis
18 96907 15 96304936 96318072 Duplication ARRDC4 Amyotrophic lateral sclerosis
19 96999 15 97494050 97607338 Duplication TTC23 Amyotrophic lateral sclerosis
20 109779 17 2912712 2913651 Duplication OR1D5 Amyotrophic lateral sclerosis
21 109780 17 2912712 2913705 Duplication OR1D4 Amyotrophic lateral sclerosis
22 109792 17 2942101 2943040 Duplication OR1D2 Amyotrophic lateral sclerosis
23 109830 17 2976653 2977595 Duplication OR1G1 Amyotrophic lateral sclerosis
24 109923 17 3047562 3048492 Duplication OR1A2 Amyotrophic lateral sclerosis
25 109943 17 3065664 3066594 Duplication OR1A1 Amyotrophic lateral sclerosis
26 122575 18 58341637 58396798 Deletion ZCCHC2 Amyotrophic lateral sclerosis
27 122676 18 59374372 59385224 Deletion SERPINB12 Amyotrophic lateral sclerosis
28 122679 18 59405513 59417412 Deletion SERPINB13 Amyotrophic lateral sclerosis
29 122691 18 59473410 59480177 Deletion SERPINB3 Amyotrophic lateral sclerosis
30 122805 18 61568467 61699155 Deletion CDH7 Amyotrophic lateral sclerosis
31 132132 19 5781636 5790742 Duplication FUT6 Amyotrophic lateral sclerosis
32 132144 19 5793898 5802485 Duplication FUT3 Amyotrophic lateral sclerosis
33 132191 19 5816836 5821551 Duplication FUT5 Amyotrophic lateral sclerosis
34 136557 2 131390693 131521306 Duplication ARHGEF4 Amyotrophic lateral sclerosis
35 145228 2 3600727 3606384 Duplication RPS7 Amyotrophic lateral sclerosis
36 158294 21 30907875 30908094 Deletion KRTAP6-1 Amyotrophic lateral sclerosis
37 158297 21 30910644 30910815 Deletion KRTAP20-1 Amyotrophic lateral sclerosis
38 158301 21 30929453 30929651 Deletion KRTAP20-2 Amyotrophic lateral sclerosis
39 158303 21 30937053 30937326 Deletion KRTAP20-3 Amyotrophic lateral sclerosis
40 163830 22 31238539 31732683 Deletion SYN3 Amyotrophic lateral sclerosis
41 219242 7 124173349 124192917 Deletion GPR37 Amyotrophic lateral sclerosis
42 222482 7 152600000 155100000 Deletion DPP6 Amyotrophic lateral sclerosis
43 237725 8 25372429 25421342 Deletion CDCA2 Amyotrophic lateral sclerosis
44 245256 9 1040619 1047553 Duplication DMRT2 Amyotrophic lateral sclerosis
45 256759 9 966963 981732 Duplication DMRT3 Amyotrophic lateral sclerosis
46 256144 9 89771178 89779487 Duplication CDK20 Amyotrophic lateral sclerosis
47 256131 9 89687591 89693634 Duplication SPATA31E1 Amyotrophic lateral sclerosis
48 255504 9 79525010 79836012 Deletion GNAQ Amyotrophic lateral sclerosis
49 255434 9 78628000 78710823 Duplication PRUNE2 Amyotrophic lateral sclerosis
50 248351 9 134843918 134856904 Duplication GFI1B 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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.89 TARDBP SOD1 OPTN NEFH DCTN1
2 11.14 SOD1 NEFH ERBB4
3 10.36 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 cytoplasmic vesicle GO:0031410 9.61 ANG C9orf72 OPTN SOD1 SQSTM1 UBQLN2
2 autophagosome GO:0005776 9.23 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 macroautophagy GO:0016236 9.73 CHMP2B SQSTM1 VCP
2 regulation of autophagosome assembly GO:2000785 9.62 UBQLN2 C9orf72
3 neurofilament cytoskeleton organization GO:0060052 9.46 SOD1 NEFH
4 autophagy GO:0006914 9.36 C9orf72 CHMP2B OPTN SQSTM1 UBQLN2 VCP
5 positive regulation of xenophagy GO:1904417 9.26 TBK1 OPTN

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 10.11 VCP UBQLN2 TBK1 TARDBP SQSTM1 SOD1
2 polyubiquitin modification-dependent protein binding GO:0031593 9.43 VCP UBQLN2 OPTN
3 molecular condensate scaffold activity GO:0140693 9.1 UBQLN2 TARDBP FUS

Sources for Amyotrophic Lateral Sclerosis 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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