Annotation Detail
Information
- Associated Genes
- MEFV
- Associated Variants
-
MEFV p.Ile692del (p.I692del)
(
ENST00000339854.8,
ENST00000541159.5,
ENST00000536379.5,
ENST00000219596.6 )
MEFV p.Ile692del (p.I692del) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Arg761His (p.R761H) ( ENST00000219596.6, ENST00000536379.5, ENST00000541159.5, ENST00000339854.8 )
MEFV p.Ala744Ser (p.A744S) ( ENST00000219596.6, ENST00000536379.5, ENST00000541159.5, ENST00000339854.8 )
MEFV p.Val726Ala (p.V726A) ( ENST00000536379.5, ENST00000541159.5, ENST00000219596.6, ENST00000339854.8 )
MEFV p.Val726Asp (p.V726D) ( ENST00000536379.5, ENST00000219596.6, ENST00000339854.8, ENST00000541159.5 )
MEFV p.Lys695Met (p.K695M) ( ENST00000219596.6, ENST00000536379.5, ENST00000541159.5, ENST00000339854.8 )
MEFV p.Lys695Arg (p.K695R) ( ENST00000339854.8, ENST00000541159.5, ENST00000536379.5, ENST00000219596.6 )
MEFV p.Met694Ile (p.M694I) ( ENST00000339854.8, ENST00000541159.5, ENST00000219596.6, ENST00000536379.5 )
MEFV p.Met694Leu (p.M694L) ( ENST00000541159.5, ENST00000339854.8, ENST00000219596.6, ENST00000536379.5 )
MEFV p.Met694Val (p.M694V) ( ENST00000219596.6, ENST00000541159.5, ENST00000536379.5, ENST00000339854.8 )
MEFV p.Met680Ile (p.M680I) ( ENST00000541159.5, ENST00000339854.8, ENST00000219596.6, ENST00000536379.5 )
MEFV p.Met680Ile (p.M680I) ( ENST00000339854.8, ENST00000541159.5, ENST00000536379.5, ENST00000219596.6 )
MEFV p.Arg653His (p.R653H) ( ENST00000541159.5, ENST00000339854.8, ENST00000219596.6, ENST00000536379.5 )
MEFV p.Phe479Leu (p.F479L) ( ENST00000339854.8, ENST00000541159.5, ENST00000536379.5, ENST00000219596.6 )
MEFV p.Phe479Leu (p.F479L) ( ENST00000339854.8, ENST00000541159.5, ENST00000219596.6, ENST00000536379.5 )
MEFV p.His478Tyr (p.H478Y) ( ENST00000541159.5, ENST00000219596.6, ENST00000339854.8, ENST00000536379.5 )
MEFV p.Gln440Ter (p.Q440*) ( ENST00000219596.6, ENST00000536379.5, ENST00000541159.5, ENST00000339854.8 )
MEFV p.Gln440Glu (p.Q440E) ( ENST00000339854.8, ENST00000541159.5, ENST00000536379.5, ENST00000219596.6 )
MEFV p.Arg408Gln (p.R408Q) ( ENST00000536379.5, ENST00000339854.8, ENST00000219596.6, ENST00000541159.5 )
MEFV p.Pro369Ser (p.P369S) ( ENST00000219596.6, ENST00000541159.5, ENST00000339854.8, ENST00000536379.5 )
MEFV p.Pro369Thr (p.P369T) ( ENST00000536379.5, ENST00000219596.6, ENST00000339854.8, ENST00000541159.5 )
MEFV p.Thr267Ile (p.T267I) ( ENST00000339854.8, ENST00000541159.5, ENST00000536379.5, ENST00000219596.6 )
MEFV p.Glu167Asp (p.E167D) ( ENST00000219596.6, ENST00000536379.5, ENST00000541159.5, ENST00000339854.8 )
MEFV p.Glu148Val (p.E148V) ( ENST00000536379.5, ENST00000219596.6, ENST00000339854.8, ENST00000541159.5 )
MEFV p.Glu148Gln (p.E148Q) ( ENST00000541159.5, ENST00000339854.8, ENST00000536379.5, ENST00000219596.6 )
MEFV p.Arg42Trp (p.R42W) ( ENST00000541159.5, ENST00000339854.8, ENST00000219596.6, ENST00000536379.5 )
MEFV p.Arg42= (p.R42=) ( ENST00000536379.5, ENST00000219596.6, ENST00000339854.8, ENST00000541159.5 )
MEFV p.Arg761His (p.R761H) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Ala744Ser (p.A744S) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Val726Ala (p.V726A) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Val726Asp (p.V726D) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Lys695Met (p.K695M) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Lys695Arg (p.K695R) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Met694Ile (p.M694I) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Met694Leu (p.M694L) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Met694Val (p.M694V) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Met680Ile (p.M680I) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Met680Ile (p.M680I) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Arg653His (p.R653H) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Phe479Leu (p.F479L) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Phe479Leu (p.F479L) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.His478Tyr (p.H478Y) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Gln440Ter (p.Q440*) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Gln440Glu (p.Q440E) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Arg408Gln (p.R408Q) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Pro369Ser (p.P369S) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Pro369Thr (p.P369T) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Thr267Ile (p.T267I) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Glu167Asp (p.E167D) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Glu148Val (p.E148V) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Glu148Gln (p.E148Q) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Arg42Trp (p.R42W) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 )
MEFV p.Arg42= (p.R42=) ( ENST00000219596.6, ENST00000339854.8, ENST00000536379.5, ENST00000541159.5 ) - Associated Disease
- familial Mediterranean fever
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.752692202909606
- Year of publication
- NA
Drugs