Annotation Detail
Information
- Associated Genes
- MEFV
- Associated Variants
-
MEFV p.Ala744Ser (p.A744S)
(
ENST00000219596.6,
ENST00000536379.5,
ENST00000541159.5,
ENST00000339854.8 )
MEFV p.Glu148Gln (p.E148Q) ( ENST00000541159.5, ENST00000339854.8, ENST00000536379.5, ENST00000219596.6 )
MEFV p.Ala744Ser (p.A744S) ( 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
- Analysis for FMF mutations in the control group revealed that 5 (5%) individuals bore MEFV gene mutations (3 were heterozygous for the E148Q and 2 were heterozygous for the A744S).
- Pubmed
- 16273767
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.752692202909606
- Year of publication
- 2005
Drugs