Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Familial_Mediterranean_fever
|
| gptkbp:biologicalProcess |
regulation of inflammation
|
| gptkbp:discoveredBy |
French FMF Consortium
|
| gptkbp:discoveredIn |
1997
|
| gptkbp:encodes |
gptkb:pyrin
|
| gptkbp:Entrez_Gene_ID |
4210
|
| gptkbp:expressedIn |
monocytes
neutrophils |
| gptkbp:fullName |
Mediterranean fever gene
|
| gptkbp:HGNC_ID |
7013
|
| https://www.w3.org/2000/01/rdf-schema#label |
MEFV
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
16p13.3
|
| gptkbp:mutationAssociatedWith |
nonsense
missense frameshift |
| gptkbp:OMIM |
608107
|
| gptkbp:orthologInMouse |
Mefv
|
| gptkbp:proteinFamily |
B-box domain
coiled-coil domain B30.2 domain PYRIN domain |
| gptkbp:significance |
pathogenic variants cause FMF
|
| gptkbp:UniProtID |
O15553
|
| gptkbp:bfsParent |
gptkb:chromosome_16p13.3
|
| gptkbp:bfsLayer |
7
|