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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
2 records shown · first 60Serum resistin levels in pediatric familial Mediterranean fever: Potential biomarker for inflammatory activity.
PMID 41255681 | PMCID PMC12620801 | DOI 10.5409/wjcp.v14.i4.108068 · World journal of clinical pediatrics · 2025 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | familial Mediterranean fever | “Serum resistin levels in pediatric familial Mediterranean fever: Potential biomarker for inflammatory activity.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | M680I | “The most frequently detected genetic mutation was M694I, followed by M694V, E148Q, M680I, and V726A.” | 0.82 | literature_variant_regex_v2 |
| variant | M694I | “The most frequently detected genetic mutation was M694I, followed by M694V, E148Q, M680I, and V726A.” | 0.82 | literature_variant_regex_v2 |
| variant | M694V | “The most frequently detected genetic mutation was M694I, followed by M694V, E148Q, M680I, and V726A.” | 0.82 | literature_variant_regex_v2 |
Relationship of Tel Hashomer criteria and Mediterranean fever gene mutations in a cohort of Turkish familial Mediterranean fever patients.
PMID 17143356 · Saudi medical journal · 2006 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | familial Mediterranean fever | “Relationship of Tel Hashomer criteria and Mediterranean fever gene mutations in a cohort of Turkish familial Mediterranean fever patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | M680I | “By using polymerase chain reaction and Hybridization-ELISA methods, 5 mutations (M694V, M694I, V726A, M680I and E148Q) have been studied between December 2002 and January 2005.” | 0.82 | literature_variant_regex_v2 |
| gene | MEFV | “METHODS: We looked for mutations in the Mediterranean fever (MEFV) gene in 84 consecutive patients who admitted to the Department of Medical Genetics of Afyon Kocatepe University, with a variable (from high to low) clinical suspicion of FMF.” | 0.98 | hgnc_dict_v1 |
| variant | M694V | “By using polymerase chain reaction and Hybridization-ELISA methods, 5 mutations (M694V, M694I, V726A, M680I and E148Q) have been studied between December 2002 and January 2005.” | 0.82 | literature_variant_regex_v2 |