Annotation Detail
Information
- Associated Genes
- MEFV
- Associated Variants
-
MEFV p.Leu110Pro (p.L110P)
(
ENST00000219596.6,
ENST00000536379.5,
ENST00000541159.5,
ENST00000339854.8 )
MEFV p.Leu110Pro (p.L110P) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 ) - Associated Disease
- familial Mediterranean fever
- Source Database
- DisGeNET
- Description
- To address the question of their possible Jewish origin, we analysed markers known to be linked to the gene responsible for FMF in Jews (MEFV) in this population.
- Pubmed
- 10854105
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.752692202909606
- Year of publication
- 2000
Drugs