Annotation Detail

Information
Associated Genes
MEFV
Associated Variants
MEFV p.Met680Ile (p.M680I) ( ENST00000541159.5, ENST00000339854.8, ENST00000219596.6, ENST00000536379.5 )
MEFV p.Met680Ile (p.M680I) ( ENST00000339854.8, ENST00000541159.5, ENST00000536379.5, ENST00000219596.6 )
MEFV p.Met680Ile (p.M680I) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Met680Ile (p.M680I) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
Associated Disease
Familial Mediterranean fever, autosomal dominant
Source Database
DisGeNET
Description
TRIM-mediated precision autophagy targets cytoplasmic regulators of innate immunity.
Pubmed
26347139
Original source reporting the Gene Disease association
UNIPROT
DisGENET score for the Gene Disease association
0.36
Year of publication
2015
Drugs