Annotation Detail
Information
- Associated Genes
- MEFV
- Associated Variants
-
MEFV p.Val726Ala (p.V726A)
(
ENST00000536379.5,
ENST00000541159.5,
ENST00000219596.6,
ENST00000339854.8 )
MEFV p.Val726Asp (p.V726D) ( ENST00000536379.5, ENST00000219596.6, ENST00000339854.8, ENST00000541159.5 )
MEFV p.Val726Ala (p.V726A) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Val726Asp (p.V726D) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 ) - Associated Disease
- familial Mediterranean fever
- Source Database
- DisGeNET
- Description
- The aim of this study is to evaluate the use of polymerase chain reaction (PCR) for diagnosis of FMF and to detect the prevalence of the most common MEFV gene (FMF gene) mutations, M694V and V726A in FMF Egyptian patients.
- Pubmed
- 15724392
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.752692202909606
- Year of publication
- 2004
Drugs