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Phenotype
Familial Mediterranean fever
34articles
34mentions
4co-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 60Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia.
PMID 31804137 | PMCID PMC6894460 | DOI 10.5144/0256-4947.2019.382 · Annals of Saudi medicine · 2019 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | familial Mediterranean fever | “Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | R761H | “Patients with E148Q, V726A and R761H mutations may have milder FMF symptoms.” | 0.82 | literature_variant_regex_v2 |
| gene | MEFV | “Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia.” | 0.98 | hgnc_dict_v1 |
| population | Population | “SAMPLE SIZE: 10 033 patients admitted, 1223 with confirmed mutations. Sixty-six percent had a family history of the disease and 13.7% of the patients had parental consanguinity.” | 0.80 | saudi_context_rules_v1 |