Annotation Detail
Information
- Associated Genes
- MEFV
- Associated Variants
-
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.Glu84Gln (p.E84Q) ( ENST00000339854.8, ENST00000541159.5, ENST00000536379.5, ENST00000219596.6 )
MEFV p.Glu84Lys (p.E84K) ( ENST00000536379.5, ENST00000219596.6, ENST00000339854.8, 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 )
MEFV p.Glu84Gln (p.E84Q) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Glu84Lys (p.E84K) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 ) - Associated Disease
- familial Mediterranean fever
- Source Database
- DisGeNET
- Description
- A genetic examination disclosed compound heterozygous MEFV mutations (E84K, P369S), and familial Mediterranean fever was diagnosed.
- Pubmed
- 26027984
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.752692202909606
- Year of publication
- 2016
Drugs