Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Popliteal pterygium syndrome
CUI: C0265259
Disease: Popliteal pterygium syndrome
0.010 GeneticVariation BEFREE To examine the role of the IRF6 mutations in Polish families with Van der Woude syndrome and popliteal pterygium syndrome and to determine the effect of IRF6 single nucleotide polymorphisms (rs7552506, rs2013162, and rs2235375) on cleft lip and/or palate susceptibility. 25489771 2015