Annotation Detail
Information
- Associated Genes
- MEFV
- Associated Variants
-
MEFV p.Arg202Gln (p.R202Q)
(
ENST00000339854.8,
ENST00000536379.5,
ENST00000219596.6,
ENST00000541159.5 )
MEFV p.Glu148Gln (p.E148Q) ( ENST00000541159.5, ENST00000339854.8, ENST00000536379.5, ENST00000219596.6 )
MEFV p.Arg202Gln (p.R202Q) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Glu148Gln (p.E148Q) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 ) - Associated Disease
- familial Mediterranean fever
- Source Database
- DisGeNET
- Description
- The mutational analysis of the patient revealed a compound heterozygous E148Q/R202Q mutation in exon 2 of MEFV gene, which is a causative gene for familial Mediterranean fever.
- Pubmed
- 18824843
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.752692202909606
- Year of publication
- 2008
Drugs