Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4210
MIM: 608107
HGNC: 6998
Ensembl: ENSG00000103313
Variants:
dbSNP: 4210
ClinVar: 4210
TCGA: ENSG00000103313
COSMIC: MEFV
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38128830 | 2024 | MEFV variants are a predisposing factor for generalized pustular psoriasis. | 0 |
| 38128830 | 2024 | MEFV variants are a predisposing factor for generalized pustular psoriasis. | 0 |
| 35258407 | 2023 | Monocyte secretory profiling in a clinical and MEFV genotype-characterized cohort of Danish familial Mediterranean fever patients: diagnostic potential of CCL1 and CXCL1. | 0 |
| 36376520 | 2023 | Does having MEFV gene sequence variants affect the clinical course and colchicine response in children with PFAPA syndrome? | 2 |
| 36449313 | 2023 | Indirect evaluation of amyloid deposition by ultrasonography and its relationship with MEFV gene mutation in FMF patients. | 0 |
| 36870084 | 2023 | Genotype-Phenotype Associations of Children With Familial Mediterranean Fever in a Cohort Consisting of M694V Mutation and Implications for Colchicine-Resistant Disease. | 0 |
| 36889987 | 2023 | MEFV gene mutation spectrum in patients with familial mediterranean fever. | 0 |
| 36898527 | 2023 | Post COVID recurrent fever in children with polymorphisms in the innate immunity regulator, pyrin; MEFV gene. | 0 |
| 36966139 | 2023 | Mutations in the B30.2 and the central helical scaffold domains of pyrin differentially affect inflammasome activation. | 4 |
| 37216220 | 2023 | Behçet disease, familial Mediterranean fever and MEFV variations: More than just an association. | 0 |
| 37286266 | 2023 | Juvenile-onset systemic lupus erythematosus and MEFV polymorphism: A case-control association study among Iranian children. | 0 |
| 37676738 | 2023 | A dominant pathogenic MEFV mutation causes atypical pyrin-associated periodic syndromes. | 2 |
| 37787552 | 2023 | Phosphoprotein phosphatase activity positively regulates oligomeric pyrin to trigger inflammasome assembly in phagocytes. | 0 |
| 38250061 | 2023 | The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases. | 1 |
| 35258407 | 2023 | Monocyte secretory profiling in a clinical and MEFV genotype-characterized cohort of Danish familial Mediterranean fever patients: diagnostic potential of CCL1 and CXCL1. | 0 |
Citation
Dessen P
MEFV (MEFV innate immuity regulator, pyrin)
Atlas Genet Cytogenet Oncol Haematol. 2010-10-01
Online version: http://atlasgeneticsoncology.org/gene/51694/mefv
