Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
0.010 GeneticVariation BEFREE SNP analysis revealed HOXC11 p.Ser191Phe segregating with clubfoot in a small family and enrichment of HOXC12 p.Asn176Lys in patients with clubfoot or vertical talus (rs189468720, p=0.0057, OR=3.8). 26729820 2016
Vertical Talus
CUI: C0240912
Disease: Vertical Talus
0.010 GeneticVariation BEFREE SNP analysis revealed HOXC11 p.Ser191Phe segregating with clubfoot in a small family and enrichment of HOXC12 p.Asn176Lys in patients with clubfoot or vertical talus (rs189468720, p=0.0057, OR=3.8). 26729820 2016