|(C;C)||0||common in clinvar|
[PMID 19536891] The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population[PMID 19734457] Association between IRF6 SNPs and oral clefts in West China
|Disease||Van der Woude syndrome Popliteal pterygium syndrome|
|CLNDBN||Van der Woude syndrome Popliteal pterygium syndrome|
|CLNSRC||OMIM Allelic Variant|
|CLNACC||SCV000023750.1, SCV000023750.1, SCV000044918.1, SCV000044918.1,|
[PMID 17318851] Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis.
[PMID 17438386] Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations.
[PMID 18278815] Genetic variants in IRF6 and the risk of facial clefts: single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway.
[PMID 18836445] Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip.
[PMID 19521098] Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results.
[PMID 19780991] Lack of association between IRF6 polymorphisms (rs2235371 and rs642961) and non-syndromic cleft lip and/or palate in a Brazilian population.
[PMID 20121942] IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate.
[PMID 20196142] Family-based study shows heterogeneity of a susceptibility locus on chromosome 8q24 for nonsyndromic cleft lip and palate.
[PMID 20799332] IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population.
[PMID 21683068] Single-nucleotide polymorphisms (SNPs) of the IRF6 and TFAP2A in non-syndromic cleft lip with or without cleft palate (NSCLP) in a northern Chinese population.
[PMID 21792966] Association of common variants, not rare mutations, in IRF6 with nonsyndromic clefts in a Honduran population.
[PMID 21834040] Contribution of variants in and near the IRF6 gene to the risk of nonsyndromic cleft lip with or without cleft palate in a Malay population.
|qualified_impact||Insufficiently evaluated not reviewed|
[PMID 23394314] Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate
[PMID 23166094] Three polymorphisms in IRF6 and 8q24 are associated with nonsyndromic cleft lip with or without cleft palate: evidence from 20 studies
[PMID 23940636] TGFA and IRF6 Contribute to the Risk of Nonsyndromic Cleft Lip with or without Cleft Palate in Northeast China