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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
6 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 | M694V | “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 | E148Q | “The most frequently detected genetic mutation was M694I, followed by M694V, E148Q, M680I, and V726A.” | 0.82 | literature_variant_regex_v2 |
Prevalence 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 | M694V | “The most common mutation in this population was M694V (39%) of 5753 alleles.” | 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 |
The relationship between red cell distribution width and homozygous M694V mutation in familial Mediterranean fever patients.
PMID 26336022 | PMCID PMC6074134 | DOI 10.5144/0256-4947.2015.151 · Annals of Saudi medicine · 2015 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | familial Mediterranean fever | “The relationship between red cell distribution width and homozygous M694V mutation in familial Mediterranean fever patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | M694V | “The relationship between red cell distribution width and homozygous M694V mutation in familial Mediterranean fever patients.” | 0.82 | literature_variant_regex_v2 |
| variant | M94V | “Also, RDW levels were higher in the FMF patients with the homozygous M94V mutation compared with those with other mutations.” | 0.82 | literature_variant_regex_v2 |
A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients.
PMID 22705602 | PMCID PMC6081005 | DOI 10.5144/0256-4947.2012.343 · Annals of Saudi medicine · 2012 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | familial Mediterranean fever | “A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | M694V | “The most common mutation detected was heterozygote M694V (46/221).” | 0.82 | literature_variant_regex_v2 |
| gene | MEFV | “BACKGROUND AND OBJECTIVES: Familial Mediterranean fever (FMF) is an autosomal recessive disorder caused by mutations in MEFV gene, which encodes pyrin.” | 0.98 | hgnc_dict_v1 |
| population | Population | “The aim of this study was to determine the frequency and spectrum of 12 MEFV mutations of these patients and any genotype-phenotype correlation in this large Turkish group. High parental consanguinity rates affect FMF development.” | 0.80 | saudi_context_rules_v1 |
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 | 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 |
| 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 | M694I | “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 |
Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population.
PMID 14578967 · Saudi medical journal · 2003 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | familial Mediterranean fever | “Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | M694V | “RESULTS: Out of the 58 alleles of the 29 probands, only 31 mutations were identified and M694V and V726A are the most common.” | 0.82 | literature_variant_regex_v2 |
| gene | MEFV | “The gene implicated in this disorder, MEFV, has been cloned and mutations in its coding regions have been identified.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “METHODS: We identified 29 probands from 29 unrelated sibships segregating the disorder and representing the affected individual cohort. We also, screened anonymous DNA samples from 4 Arabic countries, namely, Egypt (231), Syria (225), Iraq (176) and the Kingdom of Saudi Arabia (107) thus enlarging our healthy adult cohort.” | 0.95 | saudi_context_rules_v1 |