rs2235375, IRF6

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cleft upper lip
CUI: C0008924
Disease: Cleft upper lip
0.020 GeneticVariation BEFREE These results suggest that IRF6 rs2235375 SNP play a major role in the pathogenesis and risk of developing non-syndromic cleft lip with or without palate. 28712851 2018
Cleft lip or lips
CUI: C4321245
Disease: Cleft lip or lips
0.020 GeneticVariation BEFREE These results suggest that IRF6 rs2235375 SNP play a major role in the pathogenesis and risk of developing non-syndromic cleft lip with or without palate. 28712851 2018
Cleft upper lip
CUI: C0008924
Disease: Cleft upper lip
0.020 GeneticVariation BEFREE In the present study no association between the single nucleotide polymorphisms rs7552506, rs2013162, and rs2235375 and the cleft lip and/or palate phenotype was found. 25489771 2015
Cleft lip or lips
CUI: C4321245
Disease: Cleft lip or lips
0.020 GeneticVariation BEFREE In the present study no association between the single nucleotide polymorphisms rs7552506, rs2013162, and rs2235375 and the cleft lip and/or palate phenotype was found. 25489771 2015
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
0.010 GeneticVariation BEFREE IRF6 rs2235375 single nucleotide polymorphism is associated with isolated non-syndromic cleft palate but not with cleft lip with or without palate in South Indian population. 28712851 2018
Cleft Palate
CUI: C0008925
Disease: Cleft Palate
0.010 GeneticVariation BEFREE IRF6 rs2235375 single nucleotide polymorphism is associated with isolated non-syndromic cleft palate but not with cleft lip with or without palate in South Indian population. 28712851 2018
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
0.010 GeneticVariation BEFREE IRF6 rs2235375 single nucleotide polymorphism is associated with isolated non-syndromic cleft palate but not with cleft lip with or without palate in South Indian population. 28712851 2018
Van der Woude syndrome
CUI: C0175697
Disease: Van der Woude 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
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