ALS1
MCID: AMY091
MIFTS: 88

Amyotrophic Lateral Sclerosis 1 (ALS1)

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

Aliases & Classifications for Amyotrophic Lateral Sclerosis 1

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 1:

Name: Amyotrophic Lateral Sclerosis 1 57 12 74 13 38 72
Amyotrophic Lateral Sclerosis 57 12 75 24 53 25 54 59 74 37 29 55 6 43 3 44 15 17 72
Amyotrophic Lateral Sclerosis Type 1 12 53 29 6 15
Als 12 53 25 59 74
Lou Gehrig's Disease 12 75 24 54
Lou Gehrig Disease 53 25 59 74
Charcot Disease 53 25 59 74
Als1 57 12 53 74
Amyotrophic Lateral Sclerosis, Susceptibility to 57 29 6
Familial Amyotrophic Lateral Sclerosis 74 17
Motor Neuron Disease 74 72
Fals 57 74
Mnd 53 74
Amyotrophic Lateral Sclerosis 1, Autosomal Dominant 57
Motor Neuron Disease, Amyotrophic Lateral Sclerosis 25
Amyotrophic Lateral Sclerosis 1, Familial; Fals 57
Amyotrophic Lateral Sclerosis with Dementia 25
Dementia with Amyotrophic Lateral Sclerosis 25
Amyotrophic Lateral Sclerosis 1, Familial 57
Sclerosis, Lateral, Amyotrophic, Type 1 40
Sclerosis, Lateral, Amyotrophic 40
Motor Neuron Disease, Bulbar 12
Motor Neurone Disease 53

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive
autosomal dominant

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


HPO:

32

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060193 DOID:332
KEGG 37 H00058
ICD9CM 35 335.20
MeSH 44 D000690
NCIt 50 C34373
SNOMED-CT 68 86044005
ICD10 33 G12.2 G12.21
MESH via Orphanet 45 D000690
ICD10 via Orphanet 34 G12.2
UMLS via Orphanet 73 C0002736
Orphanet 59 ORPHA803
UMLS 72 C0002736 C0085084 C1862939

Summaries for Amyotrophic Lateral Sclerosis 1

Genetics Home Reference : 25 Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that control muscle movement. These nerve cells are found in the spinal cord and the brain. In ALS, motor neurons die (atrophy) over time, leading to muscle weakness, a loss of muscle mass, and an inability to control movement. 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 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia and amyotrophic lateral sclerosis 11, 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 (ALS) and Neuroscience. The drugs Minocycline and Anti-Inflammatory Agents 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.

NIH Rare Diseases : 53 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). 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)

MedlinePlus : 43 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 : 54 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 : 37
Amyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord, leading to paralysis of voluntary muscles. Mutant superoxide dismutase 1 (SOD1), as seen in some familial ALS (FALS) cases, is unstable, forming aggregates in the motor neuron cytoplasm, axoplasm and mitochondria. Within mitochondria, mutant SOD1 may interfere with the anti-apoptotic function of Bcl-2, affect mitochondrial import by interfering with the translocation machinery (TOM/TIM), and generate toxic free radicals (ROS). Reactive oxygen species (ROS), produced within mitochondria, inhibit the function of EAAT2, the main glial glutamate transporter protein, responsible for most of the reuptake of synaptically released glutamate. Glutamate excess increases intracellular calcium, which enhances oxidative stress and mitochondrial damage. Mutant SOD1 can also trigger oxidative reactions , which can then cause damage through the formation of hydroxyl radicals or via nitration of tyrosine residues on proteins. Nitration may target neurofilament proteins, affecting axonal transport. Collectively, these mechanisms are predicted to disturb cellular homeostasis, ultimately triggering motor neuron death.

UniProtKB/Swiss-Prot : 74 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 : 75 Amyotrophic lateral sclerosis (ALS), also known as motor neurone disease (MND) or Lou Gehrig's disease,... 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 12 Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic Lateral Sclerosis 17 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 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 5439)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 36.7 TARDBP OPTN FUS FIG4 DAO ANG
2 amyotrophic lateral sclerosis 11 36.6 TARDBP OPTN FUS FIG4 DAO ANG
3 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 36.5 VCP UBQLN2 TARDBP SQSTM1 FUS CHMP2B
4 amyotrophic lateral sclerosis type 14 36.5 VCP VAPB UBQLN2 TARDBP OPTN FUS
5 amyotrophic lateral sclerosis 18 36.4 TARDBP SOD1 FUS C9orf72
6 amyotrophic lateral sclerosis type 6 36.2 TARDBP FUS DAO
7 frontotemporal dementia 36.0 VCP UBQLN2 TARDBP SQSTM1 SOD1 NEFH
8 perry syndrome 34.4 TARDBP DCTN1 C9orf72
9 inclusion body myopathy with paget disease of bone and frontotemporal dementia 34.1 VCP TARDBP
10 amyotrophic lateral sclerosis 21 34.1 VCP VAPB TARDBP SOD1 OPTN MATR3
11 dementia 34.0 VCP UBQLN2 TARDBP SQSTM1 HNRNPA1 FUS
12 progressive muscular atrophy 33.9 TARDBP C9orf72
13 lateral sclerosis 33.3 VCP VAPB UBQLN2 TARDBP SQSTM1 SOD1
14 motor neuron disease 33.0 VCP VAPB TARDBP SQSTM1 SOD1 OPTN
15 behavioral variant of frontotemporal dementia 32.9 VCP SQSTM1 CHMP2B C9orf72
16 pick disease of brain 32.6 TARDBP SQSTM1 FUS
17 semantic dementia 32.4 TARDBP CHMP2B C9orf72
18 amyotrophic lateral sclerosis 7 32.3 TARDBP OPTN FUS FIG4 DAO ANG
19 progressive non-fluent aphasia 32.3 VCP CHMP2B C9orf72
20 paget's disease of bone 32.2 VCP SQSTM1 OPTN
21 inclusion body myositis 32.2 VCP TARDBP SQSTM1
22 amyotrophic lateral sclerosis 9 32.2 TARDBP OPTN FUS FIG4 DAO ANG
23 brown-vialetto-van laere syndrome 32.0 UBQLN2 TARDBP SOD1 C9orf72
24 charcot-marie-tooth disease 31.7 VCP NEFH FIG4 DCTN1
25 nervous system disease 31.7 TARDBP SOD1 OPTN C9orf72
26 postpoliomyelitis syndrome 31.6 VCP TARDBP
27 nominal aphasia 31.6 TARDBP CHMP2B
28 lethal congenital contracture syndrome 1 31.0 TARDBP FUS
29 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 13.1
30 amyotrophic lateral sclerosis 2, juvenile 13.0
31 amyotrophic lateral sclerosis 8 13.0
32 amyotrophic lateral sclerosis 17 13.0
33 amyotrophic lateral sclerosis 16, juvenile 13.0
34 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 13.0
35 amyotrophic lateral sclerosis 12 13.0
36 amyotrophic lateral sclerosis 20 13.0
37 amyotrophic lateral sclerosis 19 13.0
38 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 13.0
39 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 13.0
40 amyotrophic lateral sclerosis 15 with or without frontotemporal dementia 13.0
41 amyotrophic lateral sclerosis type 5 13.0
42 amyotrophic lateral sclerosis 23 13.0
43 amyotrophic lateral sclerosis 22 with or without frontotemporal dementia 12.9
44 juvenile amyotrophic lateral sclerosis 12.9
45 amyotrophic lateral sclerosis, juvenile, with dementia 12.9
46 amyotrophic lateral sclerosis type 22 12.8
47 madras motor neuron disease 12.8
48 amyotrophic lateral sclerosis type 15 12.8
49 tardbp-related amyotrophic lateral sclerosis 12.6
50 c9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia 12.6

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:

59 32 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 amyotrophic lateral sclerosis 59 32 obligate (100%) Obligate (100%) HP:0007354
2 generalized muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003324
3 neurodegeneration 59 32 hallmark (90%) Very frequent (99-80%) HP:0002180
4 emotional lability 59 32 frequent (33%) Frequent (79-30%) HP:0000712
5 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
6 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
7 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
8 dyspnea 59 32 frequent (33%) Frequent (79-30%) HP:0002094
9 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
10 xerostomia 59 32 frequent (33%) Frequent (79-30%) HP:0000217
11 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
12 respiratory failure 59 32 frequent (33%) Frequent (79-30%) HP:0002878
13 paralysis 59 32 frequent (33%) Frequent (79-30%) HP:0003470
14 pain 59 32 frequent (33%) Frequent (79-30%) HP:0012531
15 fatigable weakness of swallowing muscles 59 32 frequent (33%) Frequent (79-30%) HP:0030195
16 fatigable weakness of respiratory muscles 59 32 frequent (33%) Frequent (79-30%) HP:0030196
17 muscle spasm 32 frequent (33%) HP:0003394
18 nausea and vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002017
19 agitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0000713
20 laryngospasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0025425
21 muscle weakness 32 HP:0001324
22 hyperreflexia 32 HP:0001347
23 sleep apnea 32 HP:0010535
24 motor neuron atrophy 59 Very frequent (99-80%)
25 functional respiratory abnormality 59 Frequent (79-30%)
26 muscle cramps 59 Frequent (79-30%)
27 fatigable weakness of bulbar muscles 59 Frequent (79-30%)
28 fasciculations 32 HP:0002380
29 degeneration of the lateral corticospinal tracts 32 HP:0002314
30 pseudobulbar paralysis 32 HP:0007024
31 degeneration of anterior horn cells 32 HP:0002398

Symptoms via clinical synopsis from OMIM:

57
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:
muscle cramps
fasciculations
muscle weakness and atrophy

Clinical features from OMIM:

105400

UMLS symptoms related to Amyotrophic Lateral Sclerosis 1:


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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ANG C9orf72 CHCHD10 CHMP2B DAO DCTN1

MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 C9orf72 DAO DCTN1 FIG4 NEFH SOD1
2 cellular MP:0005384 9.7 C9orf72 CHCHD10 DCTN1 MATR3 NEFH PON1
3 nervous system MP:0003631 9.4 C9orf72 CHMP2B DAO DCTN1 FIG4 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 380)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
2 Anti-Inflammatory Agents Phase 4
3
Olanzapine Approved, Investigational Phase 2, Phase 3 132539-06-1 4585
4
Sargramostim Approved, Investigational Phase 2, Phase 3 83869-56-1, 123774-72-1
5
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
6
Citalopram Approved Phase 3 59729-33-8 2771
7
Mecasermin Approved, Investigational Phase 3 68562-41-4
8
Zinc Approved, Investigational Phase 3 7440-66-6 32051
9
Tocopherol Approved, Investigational Phase 3 1406-66-2, 54-28-4 14986
10
Ethanol Approved Phase 3 64-17-5 702
11
Ceftriaxone Approved Phase 3 73384-59-5 5479530 5361919
12
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
13
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
14
Methylcobalamin Approved, Experimental, Investigational Phase 3 13422-55-4
15
Hydroxocobalamin Approved Phase 3 13422-51-0 11953898 15589840
16
Bismuth subsalicylate Approved, Vet_approved Phase 3 14882-18-9 53629521
17
Sodium citrate Approved, Investigational Phase 3 68-04-2
18
Edaravone Approved, Investigational Phase 2, Phase 3 89-25-8 70335
19
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
20
Pramipexole Approved, Investigational Phase 3 104632-26-0 59868 119570
21
Lithium carbonate Approved Phase 2, Phase 3 554-13-2
22
Modafinil Approved, Investigational Phase 3 68693-11-8 4236
23
Tamsulosin Approved, Investigational Phase 3 106133-20-4 129211
24
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
25
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
26
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
27
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
28
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
29
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
30
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
31 Nabiximols Investigational Phase 2, Phase 3 56575-23-6
32 Tocotrienol Investigational Phase 3 6829-55-6
33
Cobalamin Experimental Phase 3 13408-78-1 6857388
34
Ibudilast Investigational Phase 2, Phase 3 50847-11-5 3671
35 Simendan Investigational Phase 3 131741-08-7
36 Micronutrients Phase 3
37 Trace Elements Phase 3
38 Nutrients Phase 3
39 Neuromuscular Agents Phase 3
40 abobotulinumtoxinA Phase 2, Phase 3
41 rimabotulinumtoxinB Phase 2, Phase 3
42 Botulinum Toxins, Type A Phase 2, Phase 3
43 Pharmaceutical Solutions Phase 2, Phase 3
44 Antibodies Phase 3
45 Immunoglobulins Phase 3
46 Anti-Bacterial Agents Phase 3
47 Hypoglycemic Agents Phase 3
48 Parasympatholytics Phase 3
49 Antidepressive Agents, Second-Generation Phase 3
50 insulin Phase 3

Interventional clinical trials:

(show top 50) (show all 599)
# 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 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
3 Mexiletine for the Treatment of Muscle Cramps in ALS Completed NCT01811355 Phase 4 Mexiletine;Placebo
4 Feasibility of Telesurveillance and Home Cough Assistance for Amyotrophic Lateral Patients (ALS) Completed NCT00613899 Phase 4
5 Modafinil for Treatment of Fatigue in ALS Patients: Pilot Study Completed NCT00614926 Phase 4 Modafinil;Placebo
6 Riluzole in Fragile X Syndrome: A Pilot Study Incorporating Biomarker Assay Completed NCT00895752 Phase 4 Riluzole
7 Treatment of Childhood Regressive Autism With Minocycline: an Anti-Inflammatory Agent Active Within the CNS Completed NCT00409747 Phase 4 Minocycline
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 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
10 Phase 2/3 Application of Botulinum Neurotoxin Type A in Salivary Glands as a Treatment of Chronic Drooling in Patients With Cerebral Palsy: A Controlled Clinical Trial. Unknown status NCT01489904 Phase 2, Phase 3
11 A Phase II/III Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00444613 Phase 2, Phase 3 E0302 (mecobalamin);E0302 (mecobalamin);Placebo
12 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
13 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
14 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)
15 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
16 A Long-Term Study in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00445172 Phase 2, Phase 3 E0302 (mecobalamin)
17 Effect of Intrathecal Administration of Hematopoietic Stem Cells in Patients With Amyotrophic Lateral Sclerosis (ALS) Completed NCT01933321 Phase 2, Phase 3
18 Phase 2-3 - Memantine for Disability in Amyotrophic Lateral Sclerosis Completed NCT00353665 Phase 2, Phase 3 Memantine (Ebixa);riluzole;Placebo
19 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
20 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
21 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
22 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
23 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
24 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
25 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
26 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)
27 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
28 An Open-label Safety Extension Study of TRO19622 in Amyotrophic Lateral Sclerosis (ALS) Patients Treated With Riluzole Completed NCT01285583 Phase 2, Phase 3 TRO19622
29 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;Riluzole 50 MG
30 Insulin-like Growth Factor-1 in Amyotrophic Lateral Sclerosis (ALS) Completed NCT00035815 Phase 3 Insulin like growth factor, type 1;Placebo
31 Randomized Crossover Design Trial of Vitamin E vs Placebo for Treatment of Cramps in Amyotrophic Lateral Sclerosis. Completed NCT00372879 Phase 3
32 A Randomized, Double-Blind, Placebo-Controlled Sequential Clinical Trial of Sodium Valproate in ALS Completed NCT00136110 Phase 3 Sodium Valproate
33 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
34 Noninvasive Ventilation in ALS Patients With Mild Respiratory Involvement Completed NCT00386464 Phase 2, Phase 3
35 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
36 Minocycline to Treat Amyotrophic Lateral Sclerosis Completed NCT00047723 Phase 3 minocycline
37 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)
38 Clinical Trial Ceftriaxone in Subjects With Amyotrophic Lateral Sclerosis (ALS) Completed NCT00349622 Phase 3 ceftriaxone
39 Repetitive Transcranial Magnetic Stimulation in Amyotrophic Lateral Sclerosis Completed NCT00833820 Phase 2, Phase 3
40 A Phase 3, Multicenter, Double-Blind, Placebo-Controlled, Single-Treatment Efficacy and Safety Study of MYOBLOC® (Part A) Followed by Open-Label, Multiple-Treatment With MYOBLOC® (Part B) in the Treatment of Troublesome Sialorrhea in Adult Subjects Completed NCT01994109 Phase 3 MYOBLOC
41 Efficacy of Riluzole in Patients With Cervical Spondylotic Myelopathy Undergoing Surgical Treatment. A Randomized, Double-Blind, Placebo-controlled Multi-Center Study Completed NCT01257828 Phase 3 riluzole;Placebo medication
42 Double-Blind, Randomised, Two-Armed Study for the Evaluation of Efficacy and Safety of Minocycline for Treatment Completed NCT00146809 Phase 3 Minocyline
43 A Double-blind Randomised Controlled Trial Investigating the Most Efficacious Dose of Botulinum Toxin-A for Sialorrhoea Treatment in Asian Adults With Neurological Diseases Completed NCT02425176 Phase 2, Phase 3 Botulinum toxin A (BoNT-A) 50U;Botulinum toxin A (BoNT-A) 100U;Botulinum toxin A (BoNT-A) 200U
44 Preventing Loss of Independence Through Exercise (PLIE) in Persons With Dementia Completed NCT02350127 Phase 2, Phase 3
45 A Randomized Placebo-Controlled, Crossover-Design Study of the Effects of Low Dose Naltrexone on Quality of Life as Measured by the Multiple Sclerosis Quality of Life Inventory (MSQLI54) Completed NCT00501696 Phase 3 4.5 mg Naltrexone;Naltrexone
46 A Double Blind Randomized Study of Minocycline for the Treatment of Negative and Cognitive Symptoms in Early-Phase Schizophrenia Completed NCT00733057 Phase 3 Minocycline;Placebo (200 mg/day)
47 Japanese Early-stage Clinical Trial of Ultra-high Dose Methylcobalamin for Amyotrophic Lateral Sclerosis: a Pivotal Phase 3 Randomized Controlled Study Recruiting NCT03548311 Phase 3 methylcobalamin;saline solution
48 Open Label, Non-randomized Extension Trial to Assess Long Term Safety and Efficacy of Arimoclomol in Subjects With Amyotropic Lateral Sclerosis Who Have Completed the ORARIALS-01 Trial Recruiting NCT03836716 Phase 3 Arimoclomol
49 A Randomised, Double-blind, Single-centre Study on the Safety, Tolerability and Efficacy of Cannabis Based Medicine Extract (CannTrust CBD Oil) in Slowing the Disease Progression in Amyotrophic Lateral Sclerosis or Motor Neurone Disease Patients Recruiting NCT03690791 Phase 3 CannTrust CBD Oil (capsule);Placebo (capsule)
50 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

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis 1

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Edaravone
Riluzole
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)

Cochrane evidence based reviews: amyotrophic lateral sclerosis

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:

41
Brain, Spinal Cord, Skeletal Muscle, Bone, Testes, Cortex, Bone Marrow
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Amyotrophic Lateral Sclerosis 1:
# 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 21427)
# Title Authors PMID Year
1
Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor. 38 4 8 71
9817920 1998
2
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. 38 8 71
20577002 2010
3
Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis. 9 38 4 71
18852347 2008
4
Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations. 9 38 4 71
18779421 2008
5
TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. 9 38 4 71
18396105 2008
6
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. 9 38 4 71
18309045 2008
7
Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis. 9 38 4 71
18087731 2008
8
Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis. 9 38 4 71
17886298 2007
9
An immunological epitope selective for pathological monomer-misfolded SOD1 in ALS. 38 8 71
17486090 2007
10
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. 9 38 4 71
16501576 2006
11
The G93C mutation in superoxide dismutase 1: clinicopathologic phenotype and prognosis. 38 8 71
16476815 2006
12
A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis. 38 8 71
15322088 2004
13
Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. 9 38 4 8
9029070 1997
14
Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. 38 8 71
7647793 1995
15
Cu/Zn superoxide dismutase (SOD1) mutations and sporadic amyotrophic lateral sclerosis. 38 8 71
8105280 1993
16
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. 38 8 71
8351519 1993
17
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. 38 8 71
8446170 1993
18
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. 38 4 71
21857683 2011
19
Mutations of optineurin in amyotrophic lateral sclerosis. 38 4 71
20428114 2010
20
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. 38 4 71
19251627 2009
21
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. 38 4 71
19251628 2009
22
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. 38 4 71
19118816 2009
23
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. 38 4 71
18372902 2008
24
Lithium delays progression of amyotrophic lateral sclerosis. 38 4 8
18250315 2008
25
EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives. 38 4 71
16324086 2005
26
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. 38 4 71
15372378 2004
27
Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. 8 71
15326253 2004
28
Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. 38 4 71
12858291 2003
29
"True" sporadic ALS associated with a novel SOD-1 mutation. 38 4 71
12402272 2002
30
Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family. 38 4 71
11220750 2001
31
Coexistence of dominant and recessive familial amyotrophic lateral sclerosis with the D90A Cu,Zn superoxide dismutase mutation within the same country. 38 4 71
10809943 2000
32
The inheritance of progressive muscular atrophy as a dominant trait in two New England families. 8 71
13804989 1960
33
"Wetherbee Ail"; the inheritance of progressive muscular atrophy as a dominant trait in two New England families. 8 71
14875225 1951
34
TARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy. 9 38 71
19618195 2009
35
A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS. 9 38 8
19321847 2009
36
Lack of evidence of monomer/misfolded superoxide dismutase-1 in sporadic amyotrophic lateral sclerosis. 9 38 8
19670443 2009
37
High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. 9 38 71
19224587 2009
38
Expression of Nogo-A in human muscle fibers is not specific for amyotrophic lateral sclerosis. 9 38 8
17894379 2007
39
SMN1 gene, but not SMN2, is a risk factor for sporadic ALS. 9 38 8
16931506 2006
40
Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD. 9 38 71
16240349 2005
41
A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis. 9 38 71
15446584 2004
42
Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene. 9 38 8
11951178 2002
43
Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis. 9 38 8
11835381 2002
44
A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressive familial amyotrophic lateral sclerosis. 9 38 71
10624810 1999
45
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. 9 38 71
10735277 1997
46
Transgenic mice carrying a human mutant superoxide dismutase transgene develop neuronal cytoskeletal pathology resembling human amyotrophic lateral sclerosis lesions. 9 38 8
8610185 1996
47
A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan. 9 38 71
8907321 1996
48
Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn superoxide dismutase gene. 9 38 71
7501156 1995
49
Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients. 9 38 71
7643359 1995
50
Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity. 9 38 71
8058797 1994

Variations for Amyotrophic Lateral Sclerosis 1

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 1:

6 (show top 50) (show all 247)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 UBQLN2 NM_013444.3(UBQLN2): c.1573C> T (p.Pro525Ser) single nucleotide variant Pathogenic rs369947678 X:56591879-56591879 X:56565446-56565446
2 SOD1 NM_000454.4(SOD1): c.341T> C (p.Ile114Thr) single nucleotide variant Pathogenic rs121912441 21:33039672-33039672 21:31667359-31667359
3 SOD1 NM_000454.4(SOD1): c.435G> C (p.Leu145Phe) single nucleotide variant Pathogenic 21:33040861-33040861 21:31668548-31668548
4 SOD1 SOD1, IVS4AS, C-G, -304 single nucleotide variant Pathogenic
5 SOD1 SOD1, 6-BP DEL, GGACCA deletion Pathogenic
6 SOD1 NM_000454.4(SOD1): c.280G> C (p.Gly94Arg) single nucleotide variant Pathogenic rs121912437 21:33039611-33039611 21:31667298-31667298
7 SOD1 NM_000454.4(SOD1): c.242A> G (p.His81Arg) single nucleotide variant Pathogenic rs121912458 21:33039573-33039573 21:31667260-31667260
8 SOD1 NM_000454.4(SOD1): c.137T> G (p.Phe46Cys) single nucleotide variant Pathogenic rs121912457 21:33036167-33036167 21:31663854-31663854
9 SOD1 NM_000454.4(SOD1): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic rs121912456 21:33032119-33032119 21:31659806-31659806
10 SOD1 NM_000454.4(SOD1): c.217G> A (p.Gly73Ser) single nucleotide variant Pathogenic rs121912455 21:33038809-33038809 21:31666496-31666496
11 SOD1 SOD1, IVS4AS, A-G, -11 single nucleotide variant Pathogenic
12 SOD1 NM_000454.4(SOD1): c.380T> A (p.Leu127Ter) single nucleotide variant Pathogenic rs121912454 21:33040806-33040806 21:31668493-31668493
13 SOD1 NM_000454.4(SOD1): c.49G> A (p.Gly17Ser) single nucleotide variant Pathogenic rs121912453 21:33032131-33032131 21:31659818-31659818
14 SOD1 NM_000454.4(SOD1): c.253T> G (p.Leu85Val) single nucleotide variant Pathogenic rs121912452 21:33039584-33039584 21:31667271-31667271
15 SOD1 NM_000454.4(SOD1): c.404G> A (p.Ser135Asn) single nucleotide variant Pathogenic rs121912451 21:33040830-33040830 21:31668517-31668517
16 SOD1 NM_000454.4(SOD1): c.64G> A (p.Glu22Lys) single nucleotide variant Pathogenic rs121912450 21:33032146-33032146 21:31659833-31659833
17 SOD1 NM_000454.4(SOD1): c.455T> C (p.Ile152Thr) single nucleotide variant Pathogenic rs121912449 21:33040881-33040881 21:31668568-31668568
18 SOD1 NM_000454.4(SOD1): c.20G> T (p.Cys7Phe) single nucleotide variant Pathogenic rs121912448 21:33032102-33032102 21:31659789-31659789
19 SOD1 NM_000454.4(SOD1): c.436G> A (p.Ala146Thr) single nucleotide variant Pathogenic rs121912447 21:33040862-33040862 21:31668549-31668549
20 SOD1 NM_000454.4(SOD1): c.434T> C (p.Leu145Ser) single nucleotide variant Pathogenic rs121912446 21:33040860-33040860 21:31668547-31668547
21 SOD1 NM_000454.4(SOD1): c.13G> A (p.Ala5Thr) single nucleotide variant Pathogenic rs121912444 21:33032095-33032095 21:31659782-31659782
22 SOD1 NM_000454.4(SOD1): c.140A> G (p.His47Arg) single nucleotide variant Pathogenic rs121912443 21:33036170-33036170 21:31663857-31663857
23 SOD1 NM_000454.4(SOD1): c.14C> T (p.Ala5Val) single nucleotide variant Pathogenic rs121912442 21:33032096-33032096 21:31659783-31659783
24 SOD1 NM_000454.4(SOD1): c.338T> C (p.Ile113Thr) single nucleotide variant Pathogenic rs74315452 21:33039669-33039669 21:31667356-31667356
25 SOD1 NM_000454.4(SOD1): c.302A> G (p.Glu101Gly) single nucleotide variant Pathogenic rs121912439 21:33039633-33039633 21:31667320-31667320
26 SOD1 NM_000454.4(SOD1): c.281G> C (p.Gly94Ala) single nucleotide variant Pathogenic rs121912438 21:33039612-33039612 21:31667299-31667299
27 SOD1 NM_000454.4(SOD1): c.280G> T (p.Gly94Cys) single nucleotide variant Pathogenic rs121912437 21:33039611-33039611 21:31667298-31667298
28 SOD1 NM_000454.4(SOD1): c.256G> C (p.Gly86Arg) single nucleotide variant Pathogenic rs121912436 21:33039587-33039587 21:31667274-31667274
29 SOD1 NM_000454.4(SOD1): c.319C> G (p.Leu107Val) single nucleotide variant Pathogenic rs121912440 21:33039650-33039650 21:31667337-31667337
30 SOD1 NM_000454.4(SOD1): c.131A> G (p.His44Arg) single nucleotide variant Pathogenic rs121912435 21:33036161-33036161 21:31663848-31663848
31 SOD1 NM_000454.4(SOD1): c.125G> A (p.Gly42Asp) single nucleotide variant Pathogenic rs121912434 21:33036155-33036155 21:31663842-31663842
32 SOD1 NM_000454.4(SOD1): c.124G> A (p.Gly42Ser) single nucleotide variant Pathogenic rs121912433 21:33036154-33036154 21:31663841-31663841
33 SOD1 NM_000454.4(SOD1): c.115C> G (p.Leu39Val) single nucleotide variant Pathogenic rs121912432 21:33036145-33036145 21:31663832-31663832
34 SOD1 NM_000454.4(SOD1): c.112G> A (p.Gly38Arg) single nucleotide variant Pathogenic rs121912431 21:33036142-33036142 21:31663829-31663829
35 SOD1 SOD1, IVS4AS, T-G, -10 single nucleotide variant Pathogenic
36 DCTN1 NM_004082.4(DCTN1): c.175G> A (p.Gly59Ser) single nucleotide variant Pathogenic rs121909342 2:74605231-74605231 2:74378104-74378104
37 SOD1 NM_000454.4(SOD1): c.112G> C (p.Gly38Arg) single nucleotide variant Pathogenic rs121912431 21:33036142-33036142 21:31663829-31663829
38 SOD1 NM_000454.4(SOD1): c.301G> A (p.Glu101Lys) single nucleotide variant Pathogenic/Likely pathogenic 21:33039632-33039632 21:31667319-31667319
39 NEFH NM_021076.4(NEFH) short repeat risk factor rs606231212 22:29885686-29885727 22:29489697-29489738
40 SOD1 NM_000454.4(SOD1): c.260A> G (p.Asn87Ser) single nucleotide variant Likely pathogenic rs11556620 21:33039591-33039591 21:31667278-31667278
41 SOD1 NM_000454.4(SOD1): c.443G> A (p.Gly148Asp) single nucleotide variant Likely pathogenic rs1555836950 21:33040869-33040869 21:31668556-31668556
42 PRPH PRPH, 1-BP DEL, 228C deletion risk factor
43 DCTN1 NM_004082.4(DCTN1): c.3302G> A (p.Arg1101Lys) single nucleotide variant risk factor rs121909345 2:74590464-74590464 2:74363337-74363337
44 DCTN1 NM_004082.4(DCTN1): c.1712T> C (p.Met571Thr) single nucleotide variant risk factor rs121909343 2:74595997-74595997 2:74368870-74368870
45 DCTN1 NM_004082.4(DCTN1): c.3746C> T (p.Thr1249Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72466496 2:74588717-74588717 2:74361590-74361590
46 DCTN1 NM_004082.4(DCTN1): c.442C> T (p.Arg148Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs148810193 2:74600066-74600066 2:74372939-74372939
47 DCTN1 NM_004082.4(DCTN1): c.837G> A (p.Ala279=) single nucleotide variant Conflicting interpretations of pathogenicity rs72466489 2:74598112-74598112 2:74370985-74370985
48 SOD1 NM_000454.4(SOD1): c.59A> G (p.Asn20Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs768029813 21:33032141-33032141 21:31659828-31659828
49 DCTN1 NM_004082.4(DCTN1): c.3782G> A (p.Arg1261Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs553822174 2:74588681-74588681 2:74361554-74361554
50 DCTN1 NM_004082.4(DCTN1): c.999C> G (p.Asp333Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs200952455 2:74597797-74597797 2:74370670-74370670

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

74 (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
7 SOD1 p.Val15Met VAR_007133
8 SOD1 p.Gly17Ser VAR_007134 rs121912453
9 SOD1 p.Glu22Lys VAR_007135 rs121912450
10 SOD1 p.Gly38Arg VAR_007136 rs121912431
11 SOD1 p.Leu39Val VAR_007137 rs121912432
12 SOD1 p.Gly42Ser VAR_007138 rs121912433
13 SOD1 p.Gly42Asp VAR_007139 rs121912434
14 SOD1 p.His44Arg VAR_007140 rs121912435
15 SOD1 p.His47Arg VAR_007141 rs121912443
16 SOD1 p.His49Gln VAR_007142
17 SOD1 p.Leu85Val VAR_007143 rs121912452
18 SOD1 p.Gly86Arg VAR_007144 rs121912436
19 SOD1 p.Asp91Ala VAR_007145 rs80265967
20 SOD1 p.Gly94Ala VAR_007146 rs121912438
21 SOD1 p.Gly94Cys VAR_007147 rs121912437
22 SOD1 p.Gly94Asp VAR_007148 rs121912438
23 SOD1 p.Gly94Arg VAR_007149 rs121912437
24 SOD1 p.Glu101Gly VAR_007150 rs121912439
25 SOD1 p.Asp102Gly VAR_007151
26 SOD1 p.Asp102Asn VAR_007152
27 SOD1 p.Leu107Val VAR_007153 rs121912440
28 SOD1 p.Ile113Thr VAR_007154 rs74315452
29 SOD1 p.Ile114Thr VAR_007155 rs121912441
30 SOD1 p.Arg116Gly VAR_007156 rs130163532
31 SOD1 p.Asp126His VAR_007157
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
42 SOD1 p.Ile105Phe VAR_008720 rs121912445
43 SOD1 p.Asp125Val VAR_008722
44 SOD1 p.Leu145Ser VAR_008724 rs121912446
45 SOD1 p.Ala146Thr VAR_008725 rs121912447
46 SOD1 p.Ala5Ser VAR_013518
47 SOD1 p.Leu9Gln VAR_013519
48 SOD1 p.Leu9Val VAR_013520
49 SOD1 p.Gly13Arg VAR_013521 rs121912456
50 SOD1 p.Val15Gly VAR_013522

Copy number variations for Amyotrophic Lateral Sclerosis 1 from CNVD:

7 (show top 50) (show all 271)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 41384 10 17311303 17319598 Deletion VIM Amyotrophic lateral sclerosis
2 41389 10 17402681 17536260 Deletion ST8SIA6 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 C10orf129 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 C12orf52 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 65808 12 21514352 21545796 Deletion RECQL Amyotrophic lateral sclerosis
15 65812 12 21546066 21562357 Deletion GOLT1B Amyotrophic lateral sclerosis
16 109779 17 2912712 2913651 Duplication OR1D5 Amyotrophic lateral sclerosis
17 109780 17 2912712 2913705 Duplication OR1D4 Amyotrophic lateral sclerosis
18 109792 17 2942101 2943040 Duplication OR1D2 Amyotrophic lateral sclerosis
19 109830 17 2976653 2977595 Duplication OR1G1 Amyotrophic lateral sclerosis
20 109923 17 3047562 3048492 Duplication OR1A2 Amyotrophic lateral sclerosis
21 109943 17 3065664 3066594 Duplication OR1A1 Amyotrophic lateral sclerosis
22 122575 18 58341637 58396798 Deletion ZCCHC2 Amyotrophic lateral sclerosis
23 122676 18 59374372 59385224 Deletion SERPINB12 Amyotrophic lateral sclerosis
24 122679 18 59405513 59417412 Deletion SERPINB13 Amyotrophic lateral sclerosis
25 122691 18 59473410 59480177 Deletion SERPINB3 Amyotrophic lateral sclerosis
26 122805 18 61568467 61699155 Deletion Cdh7 Amyotrophic lateral sclerosis
27 132132 19 5781636 5790742 Duplication FUT6 Amyotrophic lateral sclerosis
28 132144 19 5793898 5802485 Duplication FUT3 Amyotrophic lateral sclerosis
29 132191 19 5816836 5821551 Duplication FUT5 Amyotrophic lateral sclerosis
30 133247 19 62323320 62335105 Duplication USP29 Amyotrophic lateral sclerosis
31 136557 2 131390693 131521306 Duplication ARHGEF4 Amyotrophic lateral sclerosis
32 145228 2 3600727 3606384 Duplication RPS7 Amyotrophic lateral sclerosis
33 146721 2 53848432 53855791 Deletion CHAC2 Amyotrophic lateral sclerosis
34 158294 21 30907875 30908094 Deletion KRTAP6-1 Amyotrophic lateral sclerosis
35 158297 21 30910644 30910815 Deletion KRTAP20-1 Amyotrophic lateral sclerosis
36 158301 21 30929453 30929651 Deletion KRTAP20-2 Amyotrophic lateral sclerosis
37 158303 21 30937053 30937326 Deletion KRTAP20-3 Amyotrophic lateral sclerosis
38 163830 22 31238539 31732683 Deletion SYN3 Amyotrophic lateral sclerosis
39 171858 3 173241079 173601181 Duplication FNDC3B Amyotrophic lateral sclerosis
40 176952 3 5204358 5236649 Deletion EDEM1 Amyotrophic lateral sclerosis
41 179218 3 87391472 87408427 Duplication POU1F1 Amyotrophic lateral sclerosis
42 203253 5 95751874 95794708 Duplication PCSK1 Amyotrophic lateral sclerosis
43 204861 6 116956887 116986724 Deletion FAM26D Amyotrophic lateral sclerosis
44 204867 6 116999275 117021129 Deletion RWDD1 Amyotrophic lateral sclerosis
45 204873 6 117044342 117060834 Deletion RSHL3 Amyotrophic lateral sclerosis
46 204883 6 117063473 117096650 Deletion ZUFSP Amyotrophic lateral sclerosis
47 206518 6 14225843 14245127 Deletion CD83 Amyotrophic lateral sclerosis
48 222482 7 152600000 155100000 Deletion DPP6 Amyotrophic lateral sclerosis
49 237725 8 25372429 25421342 Deletion CDCA2 Amyotrophic lateral sclerosis
50 242910 8 76059530 76109350 Deletion CRISPLD1 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 (gene/pseudogene) Skeletal Muscle - 5.49 0.000
2 MYH8 myosin, heavy chain 8, skeletal muscle, perinatal Skeletal Muscle + 3.89 0.000
3 PRUNE2 prune homolog 2 (Drosophila) Skeletal Muscle + 3.83 0.001
4 CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle) Skeletal Muscle + 3.82 0.000
5 COL19A1 collagen, type XIX, alpha 1 Skeletal Muscle + 3.77 0.000
6 LRRK2 leucine-rich repeat kinase 2 Skeletal Muscle + 3.67 0.001
7 FST follistatin Skeletal Muscle + 3.47 0.001
8 CERKL ceramide kinase-like Skeletal Muscle + 3.46 0.000
9 RMDN2 regulator of microtubule dynamics 2 Skeletal Muscle + 3.44 0.005
10 MYLK2 myosin light chain kinase 2 Skeletal Muscle - 3.27 0.009
11 MUSK muscle, skeletal, receptor tyrosine kinase Skeletal Muscle + 3.22 0.001
12 HOXC10 homeobox C10 Skeletal Muscle - 3.22 0.000
13 SESN3 sestrin 3 Skeletal Muscle + 3.19 0.007
14 CPNE8 copine VIII Skeletal Muscle + 3.06 0.001
Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 1.

Pathways for Amyotrophic Lateral Sclerosis 1

Pathways related to Amyotrophic Lateral Sclerosis 1 according to KEGG:

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

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

# Super pathways Score Top Affiliating Genes
1 11.56 TARDBP SOD1 OPTN NEFH DCTN1
2
Show member pathways
11.39 SOD1 PRPH NEFH
3
Show member pathways
11.17 PRPH NEFH DCTN1

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 lysosome GO:0005764 9.56 SQSTM1 SOD1 CHMP2B C9orf72
2 endosome GO:0005768 9.55 SQSTM1 OPTN FIG4 CHMP2B C9orf72
3 cytoplasmic vesicle GO:0031410 9.43 UBQLN2 SQSTM1 SOD1 OPTN C9orf72 ANG
4 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 macroautophagy GO:0016236 9.43 VCP SQSTM1 CHMP2B
2 neuron cellular homeostasis GO:0070050 9.32 DCTN1 CHMP2B
3 regulation of autophagosome assembly GO:2000785 9.16 UBQLN2 C9orf72
4 autophagy GO:0006914 9.1 VCP UBQLN2 SQSTM1 OPTN CHMP2B C9orf72
5 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 9.58 VCP VAPB UBQLN2 TARDBP SQSTM1 SOD1
2 identical protein binding GO:0042802 9.5 VCP TARDBP SQSTM1 SOD1 OPTN MATR3
3 polyubiquitin modification-dependent protein binding GO:0031593 9.32 VCP OPTN
4 dynein complex binding GO:0070840 9.26 NEFH DCTN1
5 K63-linked polyubiquitin modification-dependent protein binding GO:0070530 9.16 SQSTM1 OPTN

Sources for Amyotrophic Lateral Sclerosis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....