Annotation Detail
Information
- Associated Genes
- IRF6
- Associated Variants
-
ENSG00000289700 p.Phe290_Asp296delinsLeu (p.F290_D296delinsL), IRF6 p.Phe290_Asp296delinsLeu (p.F290_D296delinsL)
(
ENST00000367021.8,
ENST00000542854.5 )
ENSG00000289700 p.Phe290_Asp296delinsLeu (p.F290_D296delinsL), IRF6 p.Phe290_Asp296delinsLeu (p.F290_D296delinsL) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Glu404Gln (p.E404Q), IRF6 p.Glu404Gln (p.E404Q) ( ENST00000542854.5, ENST00000367021.8 )
ENSG00000289700 p.Arg400Leu (p.R400L), IRF6 p.Arg400Leu (p.R400L) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Arg400Pro (p.R400P), IRF6 p.Arg400Pro (p.R400P) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Arg400Gln (p.R400Q), IRF6 p.Arg400Gln (p.R400Q) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Arg400Trp (p.R400W), IRF6 p.Arg400Trp (p.R400W) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Pro396Ser (p.P396S), IRF6 p.Pro396Ser (p.P396S) ( ENST00000542854.5, ENST00000367021.8 )
ENSG00000289700 p.Trp379Ter (p.W379*), IRF6 p.Trp379Ter (p.W379*) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Arg339Ile (p.R339I), IRF6 p.Arg339Ile (p.R339I) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Glu92Ter (p.E92*), IRF6 p.Glu92Ter (p.E92*) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Gln49Ter (p.Q49*), IRF6 p.Gln49Ter (p.Q49*) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Arg45Gln (p.R45Q), IRF6 p.Arg45Gln (p.R45Q) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Leu22Pro (p.L22P), IRF6 p.Leu22Pro (p.L22P) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Arg6Cys (p.R6C), IRF6 p.Arg6Cys (p.R6C) ( ENST00000542854.5, ENST00000367021.8 )
ENSG00000289700 p.Ala2Val (p.A2V), IRF6 p.Ala2Val (p.A2V) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Glu404Gln (p.E404Q), IRF6 p.Glu404Gln (p.E404Q) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Arg400Leu (p.R400L), IRF6 p.Arg400Leu (p.R400L) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Arg400Pro (p.R400P), IRF6 p.Arg400Pro (p.R400P) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Arg400Gln (p.R400Q), IRF6 p.Arg400Gln (p.R400Q) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Arg400Trp (p.R400W), IRF6 p.Arg400Trp (p.R400W) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Pro396Ser (p.P396S), IRF6 p.Pro396Ser (p.P396S) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Trp379Ter (p.W379*), IRF6 p.Trp379Ter (p.W379*) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Arg339Ile (p.R339I), IRF6 p.Arg339Ile (p.R339I) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Glu92Ter (p.E92*), IRF6 p.Glu92Ter (p.E92*) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Gln49Ter (p.Q49*), IRF6 p.Gln49Ter (p.Q49*) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Arg45Gln (p.R45Q), IRF6 p.Arg45Gln (p.R45Q) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Leu22Pro (p.L22P), IRF6 p.Leu22Pro (p.L22P) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Arg6Cys (p.R6C), IRF6 p.Arg6Cys (p.R6C) ( ENST00000367021.8, ENST00000542854.5 )
ENSG00000289700 p.Ala2Val (p.A2V), IRF6 p.Ala2Val (p.A2V) ( ENST00000367021.8, ENST00000542854.5 ) - Associated Disease
- Van der Woude syndrome
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.575396241838457
- Year of publication
- NA
Drugs