Annotation Detail
Information
- Associated Genes
- MEFV
- Associated Variants
-
MEFV p.Met694Ile (p.M694I)
(
ENST00000339854.8,
ENST00000541159.5,
ENST00000219596.6,
ENST00000536379.5 )
MEFV p.Glu148Gln (p.E148Q) ( ENST00000541159.5, ENST00000339854.8, ENST00000536379.5, ENST00000219596.6 )
MEFV p.Met694Ile (p.M694I) ( 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
- Genomic analysis showed the patient to be heterozygous for the E148Q/M694I mutation in the MEFV gene, and we diagnosed familial Mediterranean fever.
- Pubmed
- 22766764
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.752692202909606
- Year of publication
- 2012
Drugs