Annotation Detail
Information
- Associated Genes
- MEFV
- Associated Variants
-
MEFV p.His478Tyr (p.H478Y)
(
ENST00000541159.5,
ENST00000219596.6,
ENST00000339854.8,
ENST00000536379.5 )
MEFV p.His478Tyr (p.H478Y) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 ) - Associated Disease
- Reactive systemic amyloidosis
- Source Database
- DisGeNET
- Description
- A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?
- Pubmed
- 14679589
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00244297684872273
- Year of publication
- 2004
Drugs