Annotation Detail
Information
- Associated Genes
- MEFV
- Associated Variants
-
MEFV p.Arg202Gln (p.R202Q)
(
ENST00000339854.8,
ENST00000536379.5,
ENST00000219596.6,
ENST00000541159.5 )
MEFV p.Arg202Gln (p.R202Q) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 ) - Associated Disease
- familial Mediterranean fever
- Source Database
- DisGeNET
- Description
- R202Q alteration of the MEFV gene leads to symptoms consistent with FMF in some cases.
- Pubmed
- 24718488
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.752692202909606
- Year of publication
- 2014
Drugs