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ALS2 and amyotrophic lateral sclerosis are reported together in 2 articles.
Gene
ALS2
- HGNC
- HGNC:443
3articles
3mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
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
2 records shown · first 60Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.
PMID 24315819 | DOI 10.1016/j.gene.2013.11.043 · Gene · 2014 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ALS2 | “Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.” | 0.98 | hgnc_dict_v1 |
| phenotype | amyotrophic lateral sclerosis | “Recessive mutations in the alsin gene cause three clinically distinct motor neuron diseases: juvenile amyotrophic lateral sclerosis (ALS2), juvenile primary lateral sclerosis (JPLS) and infantile-onset ascending hereditary spastic paraplegia (IAHSP).” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “This study highlights the importance of using homozygosity mapping combined with candidate gene analysis to identify the underlying genetic defect as in this Saudi consanguineous family.” | 0.95 | saudi_context_rules_v1 |
| variant | c.2761C>T | “Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.” | 0.95 | hgvs_regex_v1 |
Loss of ERLIN2 function leads to juvenile primary lateral sclerosis.
PMID 23109145 | DOI 10.1002/ana.23641 · Annals of neurology · 2012 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ALS2 | “Mutations in the ALS2 gene encoding the protein Alsin have been described previously in the juvenile form of the disease.” | 0.98 | hgnc_dict_v1 |
| phenotype | amyotrophic lateral sclerosis | “INTERPRETATION: Recently, we found that mutation of SIGMAR1, a component of ER lipid rafts, leads to juvenile amyotrophic lateral sclerosis.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | ERLIN2 | “Loss of ERLIN2 function leads to juvenile primary lateral sclerosis.” | 0.98 | hgnc_dict_v1 |
| gene | SIGMAR1 | “INTERPRETATION: Recently, we found that mutation of SIGMAR1, a component of ER lipid rafts, leads to juvenile amyotrophic lateral sclerosis.” | 0.98 | hgnc_dict_v1 |