Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.400 Biomarker disease BEFREE PBX-WNT-P63-IRF6 pathway in nonsyndromic cleft lip and palate. 31825181 2020
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.400 GeneticVariation disease BEFREE Novel rare variations in IRF6 in subjects with non-syndromic cleft lip and palate and dental agenesis. 30195270 2019
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.400 GeneticVariation disease BEFREE Human genetic studies showed that mutations in IRF6 lead to cleft lip and palate and mandibular abnormalities. 28769044 2017
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.400 GeneticVariation disease BEFREE In addition, DNA variation in IRF6 confers significant risk for non-syndromic cleft lip and palate. 28481036 2017
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.400 GeneticVariation disease BEFREE These data provide the first mechanistic insight into the heightened caries susceptibility associated with CLP and indicate a direct role for the major CLP gene Irf6 in salivary gland development and a significant role in regulating oral immunity. 27927890 2017
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.400 GeneticVariation disease BEFREE Significantly, we also report the identification of 2 unique missense mutations in the NME proteins in patients with CLP (NME1 R18Q in an IRF6 and GRHL3 mutation-negative patient with van der Woude syndrome and NME2 G71V in a patient with nonsyndromic CLP). 28767310 2017
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.400 GeneticVariation disease BEFREE After correcting for multiple testing, we observed significant associations between fetal single-nucleotide polymorphisms (SNPs) at IRF6, PAX7, 8q21.3, 8q24, KIAA1598-VAX1, and MAFB and isolated cleft lip only (CLO) and cleft lip and palate (CLP). 28662356 2017
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.400 GeneticVariation disease BEFREE Among these, variants in interferon regulatory factor 6 (IRF6) cause syndromic orofacial clefting and contribute risk toward isolated cleft lip and palate (1/700 live births). 26332872 2016
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.400 Biomarker disease BEFREE Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate. 26692521 2016
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.400 GeneticVariation disease BEFREE DNA variation in Interferon Regulatory Factor 6 (IRF6) causes Van der Woude syndrome (VWS), the most common syndromic form of cleft lip and palate (CLP). 24442519 2014
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.400 GeneticVariation disease BEFREE Mutations in interferon regulatory factor 6 (IRF6) account for ∼70% of cases of Van der Woude syndrome (VWS), the most common syndromic form of cleft lip and palate. 24360809 2014
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.400 Biomarker disease BEFREE The association between IRF6 gene and cleft lip and palate has also been independently replicated in many populations. 23510002 2013
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.400 Biomarker disease BEFREE Since tooth agenesis is commonly found in individuals with cleft lip/palate (CL/P), we used four large cohorts to evaluate if IRF6 and TGFA interaction contributes to CL/P. 23029012 2012
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.400 GeneticVariation disease BEFREE This finding underscores the need for evaluating additional variations in IRF6 across multiple populations to better determine its role in nonsyndromic cleft lip and palate. 21039277 2010
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.400 Biomarker disease BEFREE IRF6 has been shown to be an important contributor to cleft lip and palate, but the functional variant leading to the defect has not yet been defined. 18218836 2008
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.400 Biomarker disease BEFREE Familial non-syndromic cleft lip and palate--analysis of the IRF6 gene and clinical phenotypes. 18209213 2008
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.400 Biomarker disease BEFREE Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family. 17937438 2007
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.400 SusceptibilityMutation disease ORPHANET Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. 17438386 2007
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.400 GeneticVariation disease BEFREE Variation in IRF6 contributes to nonsyndromic cleft lip and palate. 16096995 2005
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.400 GeneticVariation disease BEFREE We identified the gene that encodes interferon regulatory factor 6 (IRF6) as a candidate gene on the basis of its involvement in an autosomal dominant form of cleft lip and palate, Van der Woude's syndrome. 15317890 2004
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.400 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