Annotation Detail
Information
- Associated Genes
- IRF6
- Associated Variants
-
ENSG00000289700 p.Ser424Leu (p.S424L), IRF6 p.Ser424Leu (p.S424L)
(
ENST00000542854.5,
ENST00000367021.8 )
ENSG00000289700 p.Gln393Ter (p.Q393*), IRF6 p.Gln393Ter (p.Q393*) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Arg339Ile (p.R339I), IRF6 p.Arg339Ile (p.R339I) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Arg84Leu (p.R84L), IRF6 p.Arg84Leu (p.R84L) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Arg84His (p.R84H), IRF6 p.Arg84His (p.R84H) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Arg84Cys (p.R84C), IRF6 p.Arg84Cys (p.R84C) ( ENST00000542854.5, ENST00000367021.8 )
ENSG00000289700 p.Leu22Pro (p.L22P), IRF6 p.Leu22Pro (p.L22P) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Ser424Leu (p.S424L), IRF6 p.Ser424Leu (p.S424L) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Gln393Ter (p.Q393*), IRF6 p.Gln393Ter (p.Q393*) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Arg339Ile (p.R339I), IRF6 p.Arg339Ile (p.R339I) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Arg84Leu (p.R84L), IRF6 p.Arg84Leu (p.R84L) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Arg84His (p.R84H), IRF6 p.Arg84His (p.R84H) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Arg84Cys (p.R84C), IRF6 p.Arg84Cys (p.R84C) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Leu22Pro (p.L22P), IRF6 p.Leu22Pro (p.L22P) ( ENST00000367021.8, ENST00000542854.5 ) - Associated Disease
- popliteal pterygium syndrome
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.563257302464964
- Year of publication
- NA
Drugs