Annotation Detail
Information
- Associated Genes
- MEFV
- Associated Variants
-
MEFV p.Glu148Gln (p.E148Q)
(
ENST00000541159.5,
ENST00000339854.8,
ENST00000536379.5,
ENST00000219596.6 )
MEFV p.Leu110Pro (p.L110P) ( ENST00000219596.6, ENST00000536379.5, ENST00000541159.5, ENST00000339854.8 )
MEFV p.Glu148Gln (p.E148Q) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Leu110Pro (p.L110P) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 ) - Associated Disease
- familial Mediterranean fever
- Source Database
- DisGeNET
- Description
- An initial diagnosis of FMF was suspected based on the genetic analysis, showing the compound heterozygous L110P/E148Q mutations in the MEFV gene that is responsible for FMF.
- Pubmed
- 24835548
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.752692202909606
- Year of publication
- 2015
Drugs