Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome
1.000 GeneticVariation disease BEFREE Haploinsufficiency of IRF6 causes Van der Woude and popliteal pterygium syndrome, 2 syndromic forms of cleft lip and palate. 28898113 2018
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome
1.000 GeneticVariation disease BEFREE Variants in IRF6 can lead to Van der Woude syndrome and popliteal pterygium syndrome. 29913133 2018
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome
1.000 GeneticVariation disease BEFREE IRF6 mutations cause Van der Woude Syndrome (VWS) and Popliteal Pterygium Syndrome. 27115562 2017
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome
1.000 GeneticVariation disease CLINVAR Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing. 27834299 2017
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome
1.000 GeneticVariation disease BEFREE Van der Woude Syndrome and Popliteal pterygium syndrome are autosomal dominantly inherited disorders caused by heterozygous mutations in IRF6. 27286731 2016
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome
1.000 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
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome
1.000 GeneticVariation disease BEFREE These are similar to Bartsocas-Papas syndrome and popliteal pterygium syndrome (PPS) in humans, for which causative mutations have been documented in the RIPK4 and IRF6 (interferon regulatory factor 6) gene, respectively. 25430793 2015
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome
1.000 GeneticVariation disease BEFREE Heterozygous mutations in IRF6 cause popliteal pterygium syndrome (PPS) while homozygous mutations in RIPK4 or CHUK (IKKA) cause the more severe Bartsocas-Papas syndrome (BPS) and Cocoon syndrome, respectively. 25691407 2015
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome
1.000 GeneticVariation disease BEFREE Mutations in IRF6 cause Van der Woude and popliteal pterygium syndrome and contribute to nonsyndromic cleft lip phenotypes but have not previously been associated with a PRS phenotype. 25441681 2015
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome
1.000 GeneticVariation disease BEFREE We screened the IRF6 gene in eight families with clinical recognition of Van der Woude syndrome and popliteal pterygium syndrome. 25489771 2015
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome
1.000 CausalMutation disease CLINVAR Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions. 25784454 2015
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome
1.000 CausalMutation disease CLINVAR Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability. 25548624 2014
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome
1.000 Biomarker disease MGD Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development. 24360809 2014
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome
1.000 GeneticVariation disease BEFREE IRF6 gene mutation was detected in six of the seven new VWS/PPS families. 23394314 2014
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome
1.000 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
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome
1.000 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
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome
1.000 GeneticVariation disease BEFREE Although mutations causing Van der Woude syndrome or popliteal pterygium syndrome were nonrandomly distributed with significantly increased frequencies in the DNA-binding domain (P = 0.0001), variants found in controls were rare and evenly distributed in IRF6. 23154523 2013
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome
1.000 CausalMutation disease CLINVAR EEC syndrome-like phenotype in a patient with an IRF6 mutation. 22488974 2012
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome
1.000 GeneticVariation disease UNIPROT This supports the idea that the R84 residue in the DNA binding domain of IRF6 is a mutational hot spot for PPS. 20803643 2010
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome
1.000 Biomarker disease GENOMICS_ENGLAND This supports the idea that the R84 residue in the DNA binding domain of IRF6 is a mutational hot spot for PPS. 20803643 2010
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome
1.000 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
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome
1.000 GeneticVariation disease BEFREE This supports the idea that the R84 residue in the DNA binding domain of IRF6 is a mutational hot spot for PPS. 20803643 2010
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome
1.000 GeneticVariation disease BEFREE We identified mutations in interferon regulatory factor 6 exons in 68% of families in both Van der Woude collections and in 97% of families with popliteal pterygium syndrome. 19282774 2009
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome
1.000 Biomarker disease BEFREE In the current investigation, we have determined the sequence to which IRF6 binds and used this sequence to analyse the effect of VWS- and PPS-associated mutations in the DNA-binding domain of IRF6. 19036739 2009
CUI: C0265259
Disease: Popliteal pterygium syndrome
Popliteal pterygium syndrome
1.000 GeneticVariation disease UNIPROT In the current investigation, we have determined the sequence to which IRF6 binds and used this sequence to analyse the effect of VWS- and PPS-associated mutations in the DNA-binding domain of IRF6. 19036739 2009