Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.610 GeneticVariation disease CLINVAR Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing. 27834299 2017
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.610 GeneticVariation disease BEFREE Rare variants in IRF6 can lead to Van der Woude syndrome (1/35,000 live births) and popliteal pterygium syndrome (1/300,000 live births). 26332872 2016
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.610 CausalMutation disease CLINVAR Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions. 25784454 2015
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.610 CausalMutation disease CLINVAR Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability. 25548624 2014
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.610 CausalMutation disease CLINVAR Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate. 23394314 2014
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.610 CausalMutation disease CLINVAR Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases. 23154523 2013
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.610 CausalMutation disease CLINVAR EEC syndrome-like phenotype in a patient with an IRF6 mutation. 22488974 2012
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.610 CausalMutation disease CLINVAR IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign. 21045959 2010
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.610 Biomarker disease GENOMICS_ENGLAND Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome. 20803643 2010
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.610 CausalMutation disease CLINVAR Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling. 19623037 2009
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.610 GeneticVariation disease CLINVAR Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done? 19449419 2009
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.610 GeneticVariation disease UNIPROT Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6. 19036739 2009
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.610 CausalMutation disease CLINVAR Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. 19282774 2009
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.610 GeneticVariation disease CLINVAR Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. 19282774 2009
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.610 CausalMutation disease CLINVAR Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6. 19036739 2009
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.610 GeneticVariation disease UNIPROT A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia. 18478600 2008
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.610 CausalMutation disease CLINVAR A familial case of popliteal pterygium syndrome. 18617879 2008
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.610 GeneticVariation disease UNIPROT A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis. 17122170 2006
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.610 CausalMutation disease CLINVAR Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome. 16160700 2005
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.610 GeneticVariation disease UNIPROT Gene symbol: IRF6. Disease: Van der Woude syndrome. 15300989 2004
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.610 GeneticVariation disease CLINVAR Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome. 15472655 2004
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.610 GeneticVariation disease UNIPROT Novel mutations in the IRF6 gene for Van der Woude syndrome. 12920575 2003
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.610 GeneticVariation disease UNIPROT Gene symbol IRF6. Disease: Van der Woude syndrome and popliteal pterygium. 14640121 2003
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.610 GeneticVariation disease UNIPROT Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion. 14618417 2003
Entrez Id: 3664
Gene Symbol: IRF6
IRF6 		0.610 GeneticVariation disease UNIPROT Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. 12219090 2002