Advanced search
Combine gene, variant, phenotype, region and year filters
Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
Knowledge-base search
About your search
SIGMAR1 and amyotrophic lateral sclerosis are reported together in 2 articles.
Gene
SIGMAR1
- HGNC
- HGNC:8157
5articles
5mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
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 60Loss 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 | 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 |
| 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 | 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 |
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 | 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 |
| phenotype | amyotrophic lateral sclerosis | “A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | SOD1 | “ALS is familial in about 10% of cases, with SOD1 mutations accounting for 20% of familial cases.” | 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 |