Annotation Detail
Information
- Associated Genes
- MEFV
- Associated Variants
-
MEFV p.Thr267Ile (p.T267I)
(
ENST00000339854.8,
ENST00000541159.5,
ENST00000536379.5,
ENST00000219596.6 )
MEFV p.Thr267Ile (p.T267I) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 ) - Associated Disease
- familial Mediterranean fever
- Source Database
- DisGeNET
- Description
- Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.
- Pubmed
- 16378925
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.752692202909606
- Year of publication
- 2005
Drugs