Annotation Detail

Information
Associated Genes
MEFV
Associated Variants
MEFV p.Arg408Gln (p.R408Q) ( ENST00000536379.5, ENST00000339854.8, ENST00000219596.6, ENST00000541159.5 )
MEFV p.Pro369Ser (p.P369S) ( ENST00000219596.6, ENST00000541159.5, ENST00000339854.8, ENST00000536379.5 )
MEFV p.Pro369Thr (p.P369T) ( ENST00000536379.5, ENST00000219596.6, ENST00000339854.8, ENST00000541159.5 )
MEFV p.Arg408Gln (p.R408Q) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Pro369Ser (p.P369S) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Pro369Thr (p.P369T) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
Associated Disease
Behcet Syndrome
Source Database
DisGeNET
Description
Mediterranean fever (MEFV) variant P369S/R408Q in a patient with entero-Behçet's disease who successfully responded to treatment with colchicine.
Pubmed
25318808
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.142255690467175
Year of publication
2015
Drugs