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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
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Phenotype
Crohn disease
435articles
435mentions
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 60Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis.
PMID 25220867 | DOI 10.1002/art.38877 · Arthritis & rheumatology (Hoboken, N.J.) · 2015 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | Crohn disease | “Association of LACC1 with Crohn's disease and leprosy has been reported and justifies investigation of its role in autoinflammatory disorders.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | rs9533338 | “Homozygosity mapping reduced the critical interval to a 1.02-Mb region defined proximally by rs9533338 and distally by rs9595049.” | 0.90 | hgvs_regex_v1 |
| gene | LACC1 | “Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis.” | 0.98 | hgnc_dict_v1 |
| gene | MEFV | “Several monogenic autoinflammatory disorders have been described, but thus far, systemic JIA has only been attributed to a mutation of MEFV in rare cases and has been weakly associated with the HLA class II locus.” | 0.98 | hgnc_dict_v1 |