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SOD1 and amyotrophic lateral sclerosis are reported together in 16 articles.
Gene
SOD1
- HGNC
- HGNC:11179
60articles
60mentions
3variants with confirmed gene link
Most co-reported phenotypes (articles)
amyotrophic lateral sclerosis 16diabetes mellitus 4breast cancer 3obesity 3Alzheimer disease 2Parkinson disease 2hepatocellular carcinoma 2lung cancer 2
Reported variants (articles · ClinVar status)
Phenotype
Amyotrophic lateral sclerosis
105articles
105mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
16 records shown · first 60Amyotrophic lateral sclerosis in Saudi Arabia: a multicenter descriptive study.
PMID 41283823 | DOI 10.1080/21678421.2025.2582835 · Amyotrophic lateral sclerosis & frontotemporal degeneration · 2026 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SOD1 | “Prespecified variables included demographics, family history, initial phenotype, MRI/EMG, genetics, treatments (riluzole, edaravone, SPT, tofersen for SOD1), times to noninvasive ventilation (NIV), gastrostomy and invasive ventilation.” | 0.98 | hgnc_dict_v1 |
| phenotype | amyotrophic lateral sclerosis | “Amyotrophic lateral sclerosis in Saudi Arabia: a multicenter descriptive study.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | C9orf72 | “Clinical genetic testing was performed at the clinician's discretion; variants were classified per ACMG and only pathogenic/likely pathogenic results were counted; C9orf72 repeat-expansion testing was not systematically available.” | 0.98 | hgnc_dict_v1 |
| gene | OPTN | “37/270 underwent genetic testing; 56.7% were positive-most commonly OPTN (47.6.6% of positives) and SOD1 (38.1%).” | 0.98 | hgnc_dict_v1 |
Amyotrophic Lateral Sclerosis (ALS) Genetics and Microbiota: A Comprehensive Review.
PMID 41752118 | PMCID PMC12941290 | DOI 10.3390/ijms27041978 · International journal of molecular sciences · 2026 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SOD1 | “Several key genetic factors have been identified, particularly mutations in C9orf72, SOD1, TARDBP, and FUS, which serve as important targets for novel treatments, such as Tofersen, a recently approved SOD1-specific antisense oligonucleotide (ASO) gene therapy.” | 0.98 | hgnc_dict_v1 |
| phenotype | amyotrophic lateral sclerosis | “Amyotrophic Lateral Sclerosis (ALS) Genetics and Microbiota: A Comprehensive Review.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | C9orf72 | “Several key genetic factors have been identified, particularly mutations in C9orf72, SOD1, TARDBP, and FUS, which serve as important targets for novel treatments, such as Tofersen, a recently approved SOD1-specific antisense oligonucleotide (ASO) gene therapy.” | 0.98 | hgnc_dict_v1 |
| gene | TARDBP | “Several key genetic factors have been identified, particularly mutations in C9orf72, SOD1, TARDBP, and FUS, which serve as important targets for novel treatments, such as Tofersen, a recently approved SOD1-specific antisense oligonucleotide (ASO) gene therapy.” | 0.98 | hgnc_dict_v1 |
Investigating the impact of SOD1 mutations on amyotrophic lateral sclerosis progression and potential drug repurposing through in silico analysis.
PMID 39673548 | DOI 10.1080/07391102.2024.2439577 · Journal of biomolecular structure & dynamics · 2026 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SOD1 | “Investigating the impact of SOD1 mutations on amyotrophic lateral sclerosis progression and potential drug repurposing through in silico analysis.” | 0.98 | hgnc_dict_v1 |
| phenotype | amyotrophic lateral sclerosis | “Investigating the impact of SOD1 mutations on amyotrophic lateral sclerosis progression and potential drug repurposing through in silico analysis.” | 0.98 | phenotype_alias_lexicon_v2 |
Aggregation-Prone Pathogenic SOD1 Variants in Amyotrophic Lateral Sclerosis: Insights from Computational Genomics and Evolutionary Conservation.
PMID 40772974 | DOI 10.1007/s12031-025-02388-7 · Journal of molecular neuroscience : MN · 2025 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SOD1 | “Aggregation-Prone Pathogenic SOD1 Variants in Amyotrophic Lateral Sclerosis: Insights from Computational Genomics and Evolutionary Conservation.” | 0.98 | hgnc_dict_v1 |
| phenotype | amyotrophic lateral sclerosis | “Aggregation-Prone Pathogenic SOD1 Variants in Amyotrophic Lateral Sclerosis: Insights from Computational Genomics and Evolutionary Conservation.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | D84N | “Twelve mutations resided in evolutionarily conserved regions, with eight (D84N, G73C, H72Y, P67A, P67R, P67S, R144G, S60I) exhibiting pronounced aggregation propensity via SODA analysis.” | 0.82 | literature_variant_regex_v2 |
| variant | G73C | “Twelve mutations resided in evolutionarily conserved regions, with eight (D84N, G73C, H72Y, P67A, P67R, P67S, R144G, S60I) exhibiting pronounced aggregation propensity via SODA analysis.” | 0.82 | literature_variant_regex_v2 |
CRISPR/Cas9 a genomic engineering technology for treatment in ALS mouse models.
PMID 40837865 | PMCID PMC12362027 | DOI 10.1016/j.reth.2025.07.009 · Regenerative therapy · 2025 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SOD1 | “Nearly 20 gene mutations are associated with ALS, with SOD1, FUS, TARDBP, and C9orf72 mutations being more common.” | 0.98 | hgnc_dict_v1 |
| phenotype | amyotrophic lateral sclerosis | “CRISPR/Cas9 a genomic engineering technology for treatment in ALS mouse models.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | FUS | “Nearly 20 gene mutations are associated with ALS, with SOD1, FUS, TARDBP, and C9orf72 mutations being more common.” | 0.98 | hgnc_dict_v1 |
| gene | TARDBP | “Nearly 20 gene mutations are associated with ALS, with SOD1, FUS, TARDBP, and C9orf72 mutations being more common.” | 0.98 | hgnc_dict_v1 |
NanoBiT-based Analysis of Canine SOD1 Protein Dynamics: Understanding the Role of CCS and Ebselen Derivatives as Potential Therapeutics for Canine Degenerative Myelopathy.
PMID 40355776 | DOI 10.1007/s12013-025-01768-5 · Cell biochemistry and biophysics · 2025 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SOD1 | “NanoBiT-based Analysis of Canine SOD1 Protein Dynamics: Understanding the Role of CCS and Ebselen Derivatives as Potential Therapeutics for Canine Degenerative Myelopathy.” | 0.98 | hgnc_dict_v1 |
| phenotype | amyotrophic lateral sclerosis | “Canine degenerative myelopathy (DM) is a progressive neurodegenerative disorder that shares common pathological features with amyotrophic lateral sclerosis (ALS) in humans.” | 0.98 | phenotype_alias_lexicon_v2 |
Molecular mechanisms and antisense oligonucleotide therapies of familial amyotrophic lateral sclerosis.
PMID 39176177 | PMCID PMC11338942 | DOI 10.1016/j.omtn.2024.102271 · Molecular therapy. Nucleic acids · 2024 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SOD1 | “This review summarizes the molecular genetics of fALS, highlighting key mutations that contribute to its pathogenesis, such as mutations in SOD1, FUS, and C9orf72.” | 0.98 | hgnc_dict_v1 |
| phenotype | amyotrophic lateral sclerosis | “Molecular mechanisms and antisense oligonucleotide therapies of familial amyotrophic lateral sclerosis.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | FUS | “This review summarizes the molecular genetics of fALS, highlighting key mutations that contribute to its pathogenesis, such as mutations in SOD1, FUS, and C9orf72.” | 0.98 | hgnc_dict_v1 |
| gene | C9orf72 | “This review summarizes the molecular genetics of fALS, highlighting key mutations that contribute to its pathogenesis, such as mutations in SOD1, FUS, and C9orf72.” | 0.98 | hgnc_dict_v1 |
Recent advances in stem cell therapy: efficacy, ethics, safety concerns, and future directions focusing on neurodegenerative disorders - a review.
PMID 39705668 | PMCID PMC11486982 | DOI 10.1097/JS9.0000000000001609 · International journal of surgery (London, England) · 2024 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SOD1 | “Neurodegeneration refers to the gradual loss of neurons and extensive changes in glial cells like tau inclusions in astrocytes and oligodendrocytes, α-synuclein inclusions in oligodendrocytes and SOD1 aggregates in astrocytes along with deterioration in the motor, cognition, learning, and behavior.” | 0.98 | hgnc_dict_v1 |
| phenotype | amyotrophic lateral sclerosis | “Common neurodegenerative disorders are Alzheimer's disease (AD), Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS), Huntington's disease (HD), spinocerebellar ataxia (SCA), and supranuclear palsy.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | Alzheimer disease | “Common neurodegenerative disorders are Alzheimer's disease (AD), Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS), Huntington's disease (HD), spinocerebellar ataxia (SCA), and supranuclear palsy.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | Parkinson disease | “Common neurodegenerative disorders are Alzheimer's disease (AD), Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS), Huntington's disease (HD), spinocerebellar ataxia (SCA), and supranuclear palsy.” | 0.93 | phenotype_alias_lexicon_v2 |
Integrated Omic Analysis Delineates Pathways Modulating Toxic TDP-43 Protein Aggregates in Amyotrophic Lateral Sclerosis.
PMID 37174628 | PMCID PMC10177613 | DOI 10.3390/cells12091228 · Cells · 2023 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SOD1 | “The disease is either sporadic or familial with SOD1, C9orf72, FUS, and TDP-43 constituting the majority of familial ALS.” | 0.98 | hgnc_dict_v1 |
| phenotype | amyotrophic lateral sclerosis | “Integrated Omic Analysis Delineates Pathways Modulating Toxic TDP-43 Protein Aggregates in Amyotrophic Lateral Sclerosis.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | C9orf72 | “The disease is either sporadic or familial with SOD1, C9orf72, FUS, and TDP-43 constituting the majority of familial ALS.” | 0.98 | hgnc_dict_v1 |
Unveiling promising inhibitors of superoxide dismutase 1 (SOD1) for therapeutic interventions.
PMID 37666395 | DOI 10.1016/j.ijbiomac.2023.126684 · International journal of biological macromolecules · 2023 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SOD1 | “Unveiling promising inhibitors of superoxide dismutase 1 (SOD1) for therapeutic interventions.” | 0.98 | hgnc_dict_v1 |
| phenotype | amyotrophic lateral sclerosis | “Any dysregulation of SOD1 activity is linked with cancer pathogenesis and neurodegenerative disorders, such as amyotrophic lateral sclerosis (ALS).” | 0.98 | phenotype_alias_lexicon_v2 |
The Role of Mitochondrial Genes in Neurodegenerative Disorders.
PMID 34503413 | PMCID PMC9881096 | DOI 10.2174/1570159X19666210908163839 · Current neuropharmacology · 2022 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SOD1 | “These abnormalities, including PINK1, Parkin, and SOD1 mutations, seem to reveal mitochondrial dysfunctions due to either mtDNA mutation or deletion, the mechanism of which remains unclear in depth.” | 0.98 | hgnc_dict_v1 |
| phenotype | amyotrophic lateral sclerosis | “This review describes various gene mutations in Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, multiple sclerosis, and stroke.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | PINK1 | “These abnormalities, including PINK1, Parkin, and SOD1 mutations, seem to reveal mitochondrial dysfunctions due to either mtDNA mutation or deletion, the mechanism of which remains unclear in depth.” | 0.98 | hgnc_dict_v1 |
| phenotype | stroke | “This review describes various gene mutations in Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, multiple sclerosis, and stroke.” | 0.98 | phenotype_alias_lexicon_v2 |
Small junction, big problems: Neuromuscular junction pathology in mouse models of amyotrophic lateral sclerosis (ALS).
PMID 34101196 | PMCID PMC9558162 | DOI 10.1111/joa.13463 · Journal of anatomy · 2022 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SOD1 | “This review compares the temporal disease progression with severity of disease at the NMJ in mouse models with the most commonly mutated genes in ALS patients (SOD1, C9ORF72, TARDBP and FUS).” | 0.98 | hgnc_dict_v1 |
| phenotype | amyotrophic lateral sclerosis | “Small junction, big problems: Neuromuscular junction pathology in mouse models of amyotrophic lateral sclerosis (ALS).” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | TARDBP | “This review compares the temporal disease progression with severity of disease at the NMJ in mouse models with the most commonly mutated genes in ALS patients (SOD1, C9ORF72, TARDBP and FUS).” | 0.98 | hgnc_dict_v1 |
| gene | FUS | “This review compares the temporal disease progression with severity of disease at the NMJ in mouse models with the most commonly mutated genes in ALS patients (SOD1, C9ORF72, TARDBP and FUS).” | 0.98 | hgnc_dict_v1 |
Atypical Familial Amyotrophic Lateral Sclerosis Secondary to Superoxide Dismutase 1 Gene Mutation With Coexistent Axonal Polyneuropathy: A Challenging Diagnosis.
PMID 35154965 | PMCID PMC8817726 | DOI 10.7759/cureus.20989 · Cureus · 2022 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SOD1 | “Familial ALS, including superoxide dismutase 1 (SOD1) mutation, accounts for 5-10% of all cases of ALS.” | 0.98 | hgnc_dict_v1 |
| phenotype | amyotrophic lateral sclerosis | “Atypical Familial Amyotrophic Lateral Sclerosis Secondary to Superoxide Dismutase 1 Gene Mutation With Coexistent Axonal Polyneuropathy: A Challenging Diagnosis.” | 0.98 | phenotype_alias_lexicon_v2 |
Delineating the Aggregation-Prone Hotspot Regions (Peptides) in the Human Cu/Zn Superoxide Dismutase 1.
PMID 34926946 | PMCID PMC8675042 | DOI 10.1021/acsomega.1c05321 · ACS omega · 2021 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SOD1 | “The most common familial form of ALS (fALS) has been associated with mutations in the Cu/Zn superoxide dismutase (SOD1) gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | amyotrophic lateral sclerosis | “Amyotrophic lateral sclerosis (ALS) is a fatal, incurable neurodegenerative disease described by progressive degeneration of motor neurons.” | 0.98 | phenotype_alias_lexicon_v2 |
From Mouse Models to Human Disease: An Approach for Amyotrophic Lateral Sclerosis.
PMID 30150420 | PMCID PMC6199613 | DOI 10.21873/invivo.11339 · In vivo (Athens, Greece) · 2018 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SOD1 | “There are several genetic mutations that lead to ALS development, such as chromosome 9 hexanucleotide repeat 72 (C9ORF72), transactive response DNA-binding protein (TARDBP), superoxide dismutase 1 (SOD1) and fused in sarcoma (FUS).” | 0.98 | hgnc_dict_v1 |
| phenotype | amyotrophic lateral sclerosis | “From Mouse Models to Human Disease: An Approach for Amyotrophic Lateral Sclerosis.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | TARDBP | “There are several genetic mutations that lead to ALS development, such as chromosome 9 hexanucleotide repeat 72 (C9ORF72), transactive response DNA-binding protein (TARDBP), superoxide dismutase 1 (SOD1) and fused in sarcoma (FUS).” | 0.98 | hgnc_dict_v1 |
| gene | FUS | “There are several genetic mutations that lead to ALS development, such as chromosome 9 hexanucleotide repeat 72 (C9ORF72), transactive response DNA-binding protein (TARDBP), superoxide dismutase 1 (SOD1) and fused in sarcoma (FUS).” | 0.98 | hgnc_dict_v1 |
A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis.
PMID 21842496 | DOI 10.1002/ana.22534 · Annals of neurology · 2011 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SOD1 | “ALS is familial in about 10% of cases, with SOD1 mutations accounting for 20% of familial cases.” | 0.98 | hgnc_dict_v1 |
| phenotype | amyotrophic lateral sclerosis | “A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | SIGMAR1 | “Sequencing the SIGMAR1 gene revealed a mutation affecting a highly conserved amino acid located in the transmembrane domain of the encoded protein, sigma-1 receptor.” | 0.98 | hgnc_dict_v1 |
| population | Population | “Here we describe a consanguineous family segregating juvenile ALS in an autosomal recessive pattern and describe the genetic variant responsible for the disorder.” | 0.80 | saudi_context_rules_v1 |