Annotation Detail
Information
- Associated Genes
- MEFV
- Associated Variants
-
MEFV p.Met694Ile (p.M694I)
(
ENST00000339854.8,
ENST00000541159.5,
ENST00000219596.6,
ENST00000536379.5 )
MEFV p.Met694Ile (p.M694I) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 ) - Associated Disease
- familial Mediterranean fever
- Source Database
- DisGeNET
- Description
- Amyloid A amyloidosis in a Japanese patient with familial Mediterranean fever associated with homozygosity for the pyrin variant M694I/M694I.
- Pubmed
- 24593212
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.752692202909606
- Year of publication
- 2014
Drugs