Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect
Release Notes Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
ALS2
MCID: AMY058
MIFTS: 44

Amyotrophic Lateral Sclerosis 2, Juvenile (ALS2)

Categories: Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases
Data Licensing
For inquiries, contact:
[email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
Sources

Aliases & Classifications for Amyotrophic Lateral Sclerosis 2, Juvenile

About this section

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 2, Juvenile:

Name: Amyotrophic Lateral Sclerosis 2, Juvenile 57 11 71
Als2 57 11 73 75
Amyotrophic Lateral Sclerosis Type 2, Juvenile 28 5
Amyotrophic Lateral Sclerosis Type 2 11 14
Amyotrophic Lateral Sclerosis 2 11 73
Als, Juvenile 57 53
Alsj 57 73
Sclerosis, Lateral, Amyotrophic, Type Type 2 38
Amyotrophic Lateral Sclerosis Juvenile 2 73
Amyotrophic Lateral Sclerosis Juvenile 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
progressive disorder
age at onset 3 to 23 years
allelic disorder to juvenile primary lateral sclerosis (plsj, )
allelic disorder to infantile-onset ascending spastic paralysis (iahsp, )


HPO:

30
amyotrophic lateral sclerosis 2, juvenile:
Onset and clinical course progressive


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Muscle diseases Oral diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 31


Sources

Summaries for Amyotrophic Lateral Sclerosis 2, Juvenile

About this section

UniProtKB/Swiss-Prot: 73 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.

MalaCards based summary: Amyotrophic Lateral Sclerosis 2, Juvenile, also known as als2, is related to juvenile amyotrophic lateral sclerosis and lateral sclerosis, and has symptoms including upper motor neuron signs An important gene associated with Amyotrophic Lateral Sclerosis 2, Juvenile is ALS2 (Alsin Rho Guanine Nucleotide Exchange Factor ALS2), and among its related pathways/superpathways is Amyotrophic lateral sclerosis (ALS). Affiliated tissues include spinal cord, brain and tongue, and related phenotypes are clonus and scoliosis

Disease Ontology: 11 An amyotrophic lateral sclerosis that has material basis in mutation in the alsin gene on chromosome 2.

Wikipedia: 75 Alsin is a protein that in humans is encoded by the ALS2 gene. ALS2 orthologs have been identified in... more...

More information from OMIM: 205100 PS105400
Sources

Related Diseases for Amyotrophic Lateral Sclerosis 2, Juvenile

About this section

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 2, Juvenile via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 juvenile amyotrophic lateral sclerosis 31.9 C2CD6 ALS2
2 lateral sclerosis 31.8 SOD1 FAM117B C2CD6 ALS2
3 amyotrophic lateral sclerosis 7 31.6 ICA1L ALS2
4 amyotrophic lateral sclerosis type 14 31.2 SOD1 ALS2
5 amyotrophic lateral sclerosis 19 31.2 SOD1 ALS2
6 locked-in syndrome 31.2 SOD1 ALS2
7 amyotrophic lateral sclerosis 21 31.2 SOD1 ALS2
8 amyotrophic lateral sclerosis type 15 31.1 SOD1 ALS2
9 amyotrophic lateral sclerosis 20 31.1 SOD1 ALS2
10 amyotrophic lateral sclerosis 18 31.1 SOD1 ALS2
11 progressive bulbar palsy 31.1 SOD1 ALS2
12 amyotrophic lateral sclerosis 11 31.1 SOD1 ALS2
13 amyotrophic lateral sclerosis 16, juvenile 31.1 SOD1 ALS2
14 amyotrophic lateral sclerosis type 12 31.0 SOD1 ALS2
15 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 31.0 SOD1 ALS2
16 progressive muscular atrophy 31.0 SOD1 ALS2
17 amyotrophic lateral sclerosis 8 30.9 SOD1 ALS2
18 amyotrophic lateral sclerosis 4, juvenile 30.9 SOD1 ALS2
19 amyotrophic lateral sclerosis type 6 30.7 SOD1 ALS2
20 amyotrophic lateral sclerosis, juvenile, with dementia 11.6
21 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 11.4
22 spastic paralysis, infantile-onset ascending 11.3
23 als2-related disorder 11.3
24 primary lateral sclerosis, juvenile 11.2
25 motor neuron disease 11.2
26 hereditary spastic paraplegia 11.2
27 amyotrophic lateral sclerosis 1 11.2
28 spasticity 11.0
29 primary lateral sclerosis, adult, 1 11.0
30 spinocerebellar ataxia 2 11.0
31 hemochromatosis, type 1 11.0
32 warburg micro syndrome 1 11.0
33 neuronopathy, distal hereditary motor, type va 11.0
34 charcot-marie-tooth disease, axonal, type 2e 11.0
35 pontocerebellar hypoplasia, type 2e 11.0
36 axonal neuropathy 11.0
37 neuromuscular disease 10.9
38 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 10.8
39 neuronopathy, distal hereditary motor, type iia 10.8
40 frontotemporal dementia 10.8
41 spondylometaphyseal dysplasia, axial 10.8
42 spastic paraplegia 10, autosomal dominant 10.8
43 neuronopathy, distal hereditary motor, type viib 10.8
44 spinal muscular atrophy, distal, autosomal recessive, 4 10.8
45 spastic paraplegia 39, autosomal recessive 10.8
46 amyotrophic lateral sclerosis type 5 10.8
47 distal hereditary motor neuronopathy type 7 10.8
48 charcot-marie-tooth disease 10.8
49 tyrosinemia 10.8
50 paraplegia 10.5

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis 2, Juvenile:



Diseases related to Amyotrophic Lateral Sclerosis 2, Juvenile
Sources

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 2, Juvenile

About this section

Human phenotypes related to Amyotrophic Lateral Sclerosis 2, Juvenile:

30 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 clonus 30 Very rare (1%) HP:0002169
2 scoliosis 30 Very rare (1%) HP:0002650
3 nystagmus 30 Very rare (1%) HP:0000639
4 ataxia 30 Very rare (1%) HP:0001251
5 global developmental delay 30 Very rare (1%) HP:0001263
6 microcephaly 30 Very rare (1%) HP:0000252
7 short stature 30 Very rare (1%) HP:0004322
8 babinski sign 30 Very rare (1%) HP:0003487
9 generalized dystonia 30 Very rare (1%) HP:0007325
10 difficulty walking 30 Very rare (1%) HP:0002355
11 distal muscle weakness 30 Very rare (1%) HP:0002460
12 spastic diplegia 30 Very rare (1%) HP:0001264
13 anarthria 30 Very rare (1%) HP:0002425
14 proximal muscle weakness 30 Very rare (1%) HP:0003701
15 urinary incontinence 30 Very rare (1%) HP:0000020
16 distal lower limb amyotrophy 30 Very rare (1%) HP:0008944
17 head titubation 30 Very rare (1%) HP:0002599
18 opisthotonus 30 Very rare (1%) HP:0002179
19 tip-toe gait 30 Very rare (1%) HP:0030051
20 limb joint contracture 30 Very rare (1%) HP:0003121
21 arm dystonia 30 Very rare (1%) HP:0031960
22 retrocollis 30 Very rare (1%) HP:0002544
23 dysphagia 30 HP:0002015
24 spastic tetraparesis 30 HP:0001285
25 lower limb spasticity 30 HP:0002061
26 spastic gait 30 HP:0002064
27 distal amyotrophy 30 HP:0003693
28 emg: chronic denervation signs 30 HP:0003444
29 pseudobulbar behavioral symptoms 30 HP:0002193
30 drooling 30 HP:0002307
31 abnormal upper motor neuron morphology 30 HP:0002127
32 spastic dysarthria 30 HP:0002464
33 hand muscle atrophy 30 HP:0009130
34 abnormal lower motor neuron morphology 30 HP:0002366
35 amyotrophic lateral sclerosis 30 HP:0007354
36 upper limb spasticity 30 HP:0006986
37 difficulty in tongue movements 30 HP:0000183
38 spasticity of pharyngeal muscles 30 HP:0002501
39 spasticity of facial muscles 30 HP:0002491

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
spastic tetraparesis
anarthria
spastic gait
more
Head And Neck Mouth:
difficulty in tongue movements
sialorrhea

Muscle Soft Tissue:
amyotrophy of hand muscles
amyotrophy of distal limb muscles
neurogenic atrophy seen on muscle biopsy

Abdomen Gastrointestinal:
dysphagia

Head And Neck Face:
spasticity of the facial muscles

Neurologic Peripheral Nervous System:
no sensory abnormalities

Clinical features from OMIM®:

205100 (Updated 08-Dec-2022)

UMLS symptoms related to Amyotrophic Lateral Sclerosis 2, Juvenile:


upper motor neuron signs
Sources

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 2, Juvenile

About this section

Search Clinical Trials, NIH Clinical Center for Amyotrophic Lateral Sclerosis 2, Juvenile

Sources

Genetic Tests for Amyotrophic Lateral Sclerosis 2, Juvenile

About this section

Genetic tests related to Amyotrophic Lateral Sclerosis 2, Juvenile:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis Type 2, Juvenile 28 ALS2
Sources

Anatomical Context for Amyotrophic Lateral Sclerosis 2, Juvenile

About this section

Organs/tissues related to Amyotrophic Lateral Sclerosis 2, Juvenile:

MalaCards : Spinal Cord, Brain, Tongue, Cortex, Retina, Endothelial, Eye
ODiseA: Brain-Cortex, Brain, Spinal Cord
Sources

Publications for Amyotrophic Lateral Sclerosis 2, Juvenile

About this section

Articles related to Amyotrophic Lateral Sclerosis 2, Juvenile:

(show top 50) (show all 228)
# Title Authors PMID Year
1
ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. 62 57 5
24562058 2014
2
Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis. 62 57 5
16240357 2005
3
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. 62 57 5
11586297 2001
4
Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. 62 57 5
7920663 1994
5
Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy. 57 5
2328408 1990
6
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. 62 5
32214227 2020
7
Novel compound heterozygous ALS2 mutations cause juvenile amyotrophic lateral sclerosis in Japan. 62 57
20018642 2009
8
Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking. 62 5
16321985 2006
9
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. 62 57
11586298 2001
10
A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34. 62 57
9889004 1999
11
Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33. 62 57
9933298 1998
12
Juvenile amyotrophic lateral sclerosis in two brothers from an inbred community. 57
5173366 1971
13
Amyotrophic familial spastic paraplegia. 57
13133050 1954
14
Genotype-phenotype correlation in Tunisian patients with Amyotrophic Lateral Sclerosis. 62
36108486 2022
15
Central nervous system specific high molecular weight ALS2/alsin homophilic complex is enriched in mouse brain synaptosomes. 62
36459881 2022
16
Personalized Treatment for Infantile Ascending Hereditary Spastic Paralysis Based on In Silico Strategies. 62
36296656 2022
17
Multiple roles for the cytoskeleton in ALS. 62
35714755 2022
18
mRNA Capture Sequencing and RT-qPCR for the Detection of Pathognomonic, Novel, and Secondary Fusion Transcripts in FFPE Tissue: A Sarcoma Showcase. 62
36232302 2022
19
A novel mutation in the ALS2 gene in an iranian kurdish family with juvenile amyotrophic lateral sclerosis. 62
35852402 2022
20
Longitudinal intronic RNA-Seq analysis of Parkinson's disease patients reveals disease-specific nascent transcription. 62
35289213 2022
21
Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients. 62
35174982 2022
22
Synergistic Antibiofilm Effects of Pseudolaric Acid A Combined with Fluconazole against Candida albicans via Inhibition of Adhesion and Yeast-To-Hypha Transition. 62
35297651 2022
23
ALS2-related disorders in Spanish children: a severely affected case of infantile ascending spastic paraplegia due to homozygous R704X mutation. 62
35032227 2022
24
2-Year-Old and 3-Year-Old Italian ALS Patients with Novel ALS2 Mutations: Identification of Key Metabolites in Their Serum and Plasma. 62
35208248 2022
25
The expanding clinical and genetic spectrum of alsin-related disorders: the first cohort of Brazilian patients. 62
34738851 2022
26
ALS2-Related Motor Neuron Diseases: From Symptoms to Molecules. 62
35053075 2022
27
Infantile Ascending Hereditary Spastic Paralysis with Extrapyramidal and Extraocular Manifestations Associated with a Novel ALS2 Mutation. 62
35005076 2022
28
Infantile onset ascending hereditary spastic paralysis. 62
35039335 2022
29
Development and validation of monoclonal antibodies specific for Candida albicans Als2, Als9-1, and Als9-2. 62
35802580 2022
30
Whole Genome Sequencing Analysis to Identify Candidate Genes Associated With the rib eye Muscle Area in Hu Sheep. 62
35368668 2022
31
Target-Site Mutations and Expression of ALS Gene Copies Vary According to Echinochloa Species. 62
34828447 2021
32
Juvenile Amyotrophic Lateral Sclerosis: A Review. 62
34946884 2021
33
The N-terminal intrinsically disordered region mediates intracellular localization and self-oligomerization of ALS2. 62
34243065 2021
34
ALS2 regulates endosomal trafficking, postsynaptic development, and neuronal survival. 62
33683284 2021
35
ALS2-related disorders in Spanish children. 62
33409823 2021
36
Genetic analysis of ALS cases in the isolated island population of Malta. 62
33414559 2021
37
Candida albicans CHK1 gene from two-component system is essential for its pathogenicity in oral candidiasis. 62
33635358 2021
38
Florasulam resistance status of flixweed (Descurainia sophia L.) and alternative herbicides for its chemical control in the North China plain. 62
33518041 2021
39
The distinct manifestation of young-onset amyotrophic lateral sclerosis in China. 62
32729724 2021
40
Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations. 62
33155358 2021
41
The RabGEF ALS2 is a hypoxia inducible target associated with the acquisition of aggressive traits in tumor cells. 62
33339852 2020
42
Investigation of resistant level to tribenuron-methyl, diversity and regional difference of the resistant mutations on acetolactate synthase (ALS) isozymes in Descurainia sophia L. from China. 62
32828371 2020
43
Effect of New 9-1-1 System on Efficiency of Initial Resource Assignment. 62
31664875 2020
44
Investigating the expression of ALS2 and ALS9 genes along with allele frequency of ALS9 in patients with vulvovaginal candidiasis. 62
32084624 2020
45
Selective dorsal rhizotomy for spasticity of genetic etiology. 62
32300873 2020
46
Inhibitory effect of novel Eugenol Tosylate Congeners on pathogenicity of Candida albicans. 62
32349730 2020
47
ALS2, the small GTPase Rab17-interacting protein, regulates maturation and sorting of Rab17-associated endosomes. 62
31959474 2020
48
Pathogenesis and Clinical Relevance of Candida Biofilms in Vulvovaginal Candidiasis. 62
33262741 2020
49
The Neglected Genes of ALS: Cytoskeletal Dynamics Impact Synaptic Degeneration in ALS. 62
33281562 2020
50
Whole-Transcriptome Analysis of APP/PS1 Mouse Brain and Identification of circRNA-miRNA-mRNA Networks to Investigate AD Pathogenesis. 62
31786335 2019
Sources

Variations for Amyotrophic Lateral Sclerosis 2, Juvenile

About this section

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 2, Juvenile:

5 (show top 50) (show all 131)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALS2 NM_020919.4(ALS2):c.138del (p.Ala47fs) DEL Pathogenic
 4405 rs386134173 GRCh37: 2:202631989-202631989
GRCh38: 2:201767266-201767266
2 ALS2 NM_020919.4(ALS2):c.2002G>T (p.Gly668Ter) SNV Pathogenic
 183239 rs730882255 GRCh37: 2:202609149-202609149
GRCh38: 2:201744426-201744426
3 ALS2 NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter) SNV Pathogenic
 100653 rs587777132 GRCh37: 2:202593315-202593315
GRCh38: 2:201728592-201728592
4 ALS2 NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter) SNV Pathogenic
 393199 rs767350733 GRCh37: 2:202589115-202589115
GRCh38: 2:201724392-201724392
5 ALS2 NM_020919.4(ALS2):c.4223T>A (p.Leu1408Ter) SNV Pathogenic
 1678521 GRCh37: 2:202574661-202574661
GRCh38: 2:201709938-201709938
6 ALS2 NM_020919.4(ALS2):c.2707dup (p.Met903fs) DUP Pathogenic
 1678522 GRCh37: 2:202593779-202593780
GRCh38: 2:201729056-201729057
7 ALS2 NM_020919.4(ALS2):c.4573dup (p.Val1525fs) DUP Pathogenic
 183240 rs730882256 GRCh37: 2:202571575-202571576
GRCh38: 2:201706852-201706853
8 ALS2 NM_020919.4(ALS2):c.1233T>G (p.Tyr411Ter) SNV Pathogenic
 533743 rs369577952 GRCh37: 2:202622363-202622363
GRCh38: 2:201757640-201757640
9 ALS2 NM_020919.4(ALS2):c.4381C>T (p.Arg1461Ter) SNV Pathogenic
 873268 rs374047961 GRCh37: 2:202572614-202572614
GRCh38: 2:201707891-201707891
10 ALS2 NM_020919.4(ALS2):c.553del (p.Thr185fs) DEL Pathogenic
 4414 rs386134174 GRCh37: 2:202626164-202626164
GRCh38: 2:201761441-201761441
11 ALS2 NM_020919.4(ALS2):c.3520A>T (p.Lys1174Ter) SNV Pathogenic
 645923 rs757972700 GRCh37: 2:202588157-202588157
GRCh38: 2:201723434-201723434
12 ALS2 NM_020919.4(ALS2):c.1649C>T (p.Pro550Leu) SNV Likely Pathogenic
 1339519 GRCh37: 2:202617957-202617957
GRCh38: 2:201753234-201753234
13 ALS2 NM_020919.4(ALS2):c.4022G>A (p.Arg1341His) SNV Likely Pathogenic
 374111 rs761291489 GRCh37: 2:202575814-202575814
GRCh38: 2:201711091-201711091
14 ALS2 NM_020919.4(ALS2):c.4753_4754dup (p.Ser1585fs) MICROSAT Likely Pathogenic
 973527 rs1689584119 GRCh37: 2:202569260-202569261
GRCh38: 2:201704537-201704538
15 ALS2 NM_020919.4(ALS2):c.2104G>T (p.Glu702Ter) SNV Likely Pathogenic
 804391 rs1574748038 GRCh37: 2:202609047-202609047
GRCh38: 2:201744324-201744324
16 ALS2 NM_020919.4(ALS2):c.601C>T (p.Arg201Ter) SNV Likely Pathogenic
Likely Pathogenic
 804392 rs1574787779 GRCh37: 2:202626116-202626116
GRCh38: 2:201761393-201761393
17 ALS2 NM_020919.4(ALS2):c.1718C>A (p.Ala573Glu) SNV Likely Pathogenic
 694319 rs763455928 GRCh37: 2:202617888-202617888
GRCh38: 2:201753165-201753165
18 ALS2 NM_020919.4(ALS2):c.4808C>T (p.Pro1603Leu) SNV Likely Pathogenic
 873269 rs1689580631 GRCh37: 2:202569207-202569207
GRCh38: 2:201704484-201704484
19 ALS2 NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) SNV Conflicting Interpretations Of Pathogenicity
 333595 rs202219507 GRCh37: 2:202598100-202598100
GRCh38: 2:201733377-201733377
20 ALS2 NM_020919.4(ALS2):c.4566T>C (p.Phe1522=) SNV Uncertain Significance
 899132 rs1214757167 GRCh37: 2:202571583-202571583
GRCh38: 2:201706860-201706860
21 ALS2 NM_020919.4(ALS2):c.1816-8C>T SNV Uncertain Significance
 261366 rs185911369 GRCh37: 2:202611479-202611479
GRCh38: 2:201746756-201746756
22 ALS2 NM_020919.4(ALS2):c.2909G>T (p.Gly970Val) SNV Uncertain Significance
 333593 rs375742430 GRCh37: 2:202592431-202592431
GRCh38: 2:201727708-201727708
23 ALS2 NM_020919.4(ALS2):c.2712G>A (p.Thr904=) SNV Uncertain Significance
 333594 rs201200488 GRCh37: 2:202593775-202593775
GRCh38: 2:201729052-201729052
24 ALS2 NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn) SNV Uncertain Significance
 695972 rs201161419 GRCh37: 2:202619239-202619239
GRCh38: 2:201754516-201754516
25 ALS2 NM_020919.4(ALS2):c.331G>A (p.Val111Ile) SNV Uncertain Significance
 533752 rs61745503 GRCh37: 2:202626386-202626386
GRCh38: 2:201761663-201761663
26 ALS2 NM_020919.4(ALS2):c.3741T>G (p.Gly1247=) SNV Uncertain Significance
 417159 rs3219166 GRCh37: 2:202582895-202582895
GRCh38: 2:201718172-201718172
27 ALS2 NM_020919.4(ALS2):c.366G>A (p.Gln122=) SNV Uncertain Significance
 698712 rs775483404 GRCh37: 2:202626351-202626351
GRCh38: 2:201761628-201761628
28 ALS2 NM_020919.4(ALS2):c.2912+8C>T SNV Uncertain Significance
 699637 rs528131651 GRCh37: 2:202592420-202592420
GRCh38: 2:201727697-201727697
29 ALS2 NM_020919.4(ALS2):c.1783G>T (p.Asp595Tyr) SNV Uncertain Significance
 898198 rs199603159 GRCh37: 2:202614467-202614467
GRCh38: 2:201749744-201749744
30 ALS2 NM_020919.4(ALS2):c.*1079A>G SNV Uncertain Significance
 897941 rs1689339340 GRCh37: 2:202565495-202565495
GRCh38: 2:201700772-201700772
31 ALS2 NM_020919.4(ALS2):c.-99C>T SNV Uncertain Significance
 897166 rs1047871413 GRCh37: 2:202645638-202645638
GRCh38: 2:201780915-201780915
32 ALS2 NM_020919.4(ALS2):c.886G>A (p.Ala296Thr) SNV Uncertain Significance
 897099 rs765049503 GRCh37: 2:202625831-202625831
GRCh38: 2:201761108-201761108
33 ALS2 NM_020919.4(ALS2):c.1044C>T (p.Tyr348=) SNV Uncertain Significance
 896633 rs1693726956 GRCh37: 2:202625673-202625673
GRCh38: 2:201760950-201760950
34 ALS2 NM_020919.4(ALS2):c.*302A>G SNV Uncertain Significance
 896383 rs1054683729 GRCh37: 2:202566272-202566272
GRCh38: 2:201701549-201701549
35 ALS2 NM_020919.4(ALS2):c.*1093C>T SNV Uncertain Significance
 896320 rs983208576 GRCh37: 2:202565481-202565481
GRCh38: 2:201700758-201700758
36 ALS2 NM_020919.4(ALS2):c.*1219C>G SNV Uncertain Significance
 896319 rs549727520 GRCh37: 2:202565355-202565355
GRCh38: 2:201700632-201700632
37 ALS2 NM_020919.4(ALS2):c.*426T>A SNV Uncertain Significance
 894947 rs535733859 GRCh37: 2:202566148-202566148
GRCh38: 2:201701425-201701425
38 ALS2 NM_020919.4(ALS2):c.*504G>A SNV Uncertain Significance
 894946 rs183326117 GRCh37: 2:202566070-202566070
GRCh38: 2:201701347-201701347
39 ALS2 NM_020919.4(ALS2):c.*584G>A SNV Uncertain Significance
 894945 rs577282089 GRCh37: 2:202565990-202565990
GRCh38: 2:201701267-201701267
40 ALS2 NM_020919.4(ALS2):c.*1259A>G SNV Uncertain Significance
 894878 rs888553434 GRCh37: 2:202565315-202565315
GRCh38: 2:201700592-201700592
41 ALS2 NM_020919.4(ALS2):c.*1328G>T SNV Uncertain Significance
 894877 rs998591070 GRCh37: 2:202565246-202565246
GRCh38: 2:201700523-201700523
42 ALS2 NM_020919.4(ALS2):c.*1398C>A SNV Uncertain Significance
 894876 rs759248084 GRCh37: 2:202565176-202565176
GRCh38: 2:201700453-201700453
43 ALS2 NM_020919.4(ALS2):c.*1501A>G SNV Uncertain Significance
 894875 rs1689312301 GRCh37: 2:202565073-202565073
GRCh38: 2:201700350-201700350
44 ALS2 NM_020919.4(ALS2):c.2541C>T (p.Tyr847=) SNV Uncertain Significance
 748342 rs181782027 GRCh37: 2:202598038-202598038
GRCh38: 2:201733315-201733315
45 ALS2 NM_020919.4(ALS2):c.*1538C>G SNV Uncertain Significance
 333570 rs868173236 GRCh37: 2:202565036-202565036
GRCh38: 2:201700313-201700313
46 ALS2 NM_020919.4(ALS2):c.2241C>T (p.Tyr747=) SNV Uncertain Significance
 241310 rs3219160 GRCh37: 2:202606507-202606507
GRCh38: 2:201741784-201741784
47 ALS2 NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg) SNV Uncertain Significance
Likely Benign
 241307 rs190369242 GRCh37: 2:202622481-202622481
GRCh38: 2:201757758-201757758
48 ALS2 NM_020919.4(ALS2):c.3863C>T (p.Pro1288Leu) SNV Uncertain Significance
 533742 rs376835062 GRCh37: 2:202580536-202580536
GRCh38: 2:201715813-201715813
49 ALS2 NM_020919.4(ALS2):c.339C>T (p.Tyr113=) SNV Uncertain Significance
 895271 rs370824570 GRCh37: 2:202626378-202626378
GRCh38: 2:201761655-201761655
50 ALS2 NM_020919.4(ALS2):c.396G>A (p.Pro132=) SNV Uncertain Significance
 700826 rs374978798 GRCh37: 2:202626321-202626321
GRCh38: 2:201761598-201761598
Sources

Expression for Amyotrophic Lateral Sclerosis 2, Juvenile

About this section
Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 2, Juvenile.
Sources

Pathways for Amyotrophic Lateral Sclerosis 2, Juvenile

About this section

Pathways related to Amyotrophic Lateral Sclerosis 2, Juvenile according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Amyotrophic lateral sclerosis (ALS) 74
10.18 SOD1 ALS2
Sources

GO Terms for Amyotrophic Lateral Sclerosis 2, Juvenile

About this section
Sources

Sources for Amyotrophic Lateral Sclerosis 2, Juvenile

About this section
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 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....