Annotation Detail
Information
- Associated Genes
- MEFV
- Associated Variants
-
MEFV p.Glu148Gln (p.E148Q)
(
ENST00000541159.5,
ENST00000339854.8,
ENST00000536379.5,
ENST00000219596.6 )
MEFV p.Glu148Gln (p.E148Q) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 ) - Associated Disease
- amyloidosis
- Source Database
- DisGeNET
- Description
- The E148Q variant of MEFV was present in two of the three patients with TNF receptor-associated periodic syndrome (TRAPS) complicated by amyloid in two separate multiplex TRAPS families containing 5 and 16 affected members respectively, and the single patient with Muckle-Wells syndrome who had amyloidosis was homozygous for this variant.
- Pubmed
- 15071491
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.064186017509286
- Year of publication
- 2004
Drugs