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
- Henoch-Schoenlein purpura
- Source Database
- DisGeNET
- Description
- MEFV E148Q polymorphism is associated with Henoch-Schönlein purpura in Chinese children.
- Pubmed
- 20602240
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00954407278452882
- Year of publication
- 2010
Drugs