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
LGI1 and arthrogryposis are reported together in 1 article.
Gene
LGI1
- HGNC
- HGNC:6572
9articles
9mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Arthrogryposis
30articles
30mentions
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
1 records shown · first 60A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
PMID 35948005 | PMCID PMC9502070 | DOI 10.1016/j.ajhg.2022.07.006 · American journal of human genetics · 2022 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | LGI1 | “LGI1 antibodies are detected in subjects with autoimmune limbic encephalitis and peripheral nerve hyperexcitability syndromes (PNHSs) such as Isaacs and Morvan syndromes.” | 0.98 | hgnc_dict_v1 |
| phenotype | arthrogryposis | “Pathogenic variations of LGI1 and LGI4 are associated with neurological disorders as disease traits including familial temporal lobe epilepsy and neurogenic arthrogryposis multiplex congenita 1 with myelin defects, respectively.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | LGI4 | “Pathogenic variations of LGI1 and LGI4 are associated with neurological disorders as disease traits including familial temporal lobe epilepsy and neurogenic arthrogryposis multiplex congenita 1 with myelin defects, respectively.” | 0.98 | hgnc_dict_v1 |
| gene | LGI2 | “No human disease has been reported associated with either LGI2 or LGI3.” | 0.98 | hgnc_dict_v1 |