Annotation Detail
Information
- Associated Genes
- MEFV
- Associated Variants
-
MEFV p.Lys695Met (p.K695M)
(
ENST00000219596.6,
ENST00000536379.5,
ENST00000541159.5,
ENST00000339854.8 )
MEFV p.Lys695Arg (p.K695R) ( ENST00000339854.8, ENST00000541159.5, ENST00000536379.5, ENST00000219596.6 )
MEFV p.Lys695Met (p.K695M) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Lys695Arg (p.K695R) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 ) - Associated Disease
- familial Mediterranean fever
- Source Database
- DisGeNET
- Description
- MEFV mutations in Turkish patients suffering from Familial Mediterranean Fever.
- Pubmed
- 10612841
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.752692202909606
- Year of publication
- 2000
Drugs