Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.080 | Biomarker | disease | BEFREE | A novel RIPK4-IRF6 connection is required to prevent epithelial fusions characteristic for popliteal pterygium syndromes. | 25430793 | 2015 | ||||
|
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 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. | 12219090 | 2002 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. | 17318851 | 2007 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 |