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MEFV and Crohn disease are reported together in 1 article.
Gene
MEFV
- HGNC
- HGNC:6998
16articles
16mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
familial Mediterranean fever 13Crohn disease 1congenital myopathy 1nephrotic syndrome 1renal failure 1
Reported variants (articles · ClinVar status)
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 |
|---|---|---|---|---|
| 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 |
| 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 |
| gene | LACC1 | “Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “METHODS: We studied 13 patients with systemic JIA from 5 consanguineous families, all from the southern region of Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |