Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
0.080 Biomarker disease BEFREE A novel RIPK4-IRF6 connection is required to prevent epithelial fusions characteristic for popliteal pterygium syndromes. 25430793 2015
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
0.080 GeneticVariation disease BEFREE Two novel mutations (Arg31Thr and Trp40Glyfs*23) in the IRF6 gene were identified to be causative for Van der Woude and popliteal pterygium syndromes. 25489771 2015
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
0.080 GeneticVariation disease BEFREE Van der Woude and popliteal pterygium syndromes are caused by mutations in IRF6, but phenotypic variability within and among families with either syndrome suggests that other genetic factors contribute to the phenotypes. 23949966 2013
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
0.080 GeneticVariation disease BEFREE Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. 17318851 2007
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
0.080 Biomarker disease BEFREE The interferon regulatory factor 6 gene (IRF6) has been identified as the major Van der Woude (VWS) syndrome and popliteal pterygium (PPS) syndrome gene with mutations in the majority of the kindreds. 16160700 2005
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
0.080 GeneticVariation disease BEFREE Genomic, cDNA and embryonic expression analysis of zebrafish IRF6, the gene mutated in the human oral clefting disorders Van der Woude and popliteal pterygium syndromes. 15939375 2005
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
0.080 Biomarker disease BEFREE Three of them--namely T-box transcription factor-22 (TBX22), poliovirus receptor like-1 (PVRL1), and interferon regulatory factor-6 (IRF6)--are responsible for causing X-linked cleft palate, cleft lip/palate-ectodermal dysplasia syndrome, and Van der Woude's and popliteal pterygium syndromes, respectively; they are also implied in non-syndromic cleft lip and palate. 15479962 2004
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
0.080 GeneticVariation disease BEFREE Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. 12219090 2002