HOXC12, homeobox C12, 3228

N. diseases: 5; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037369
Disease: Smoking
Smoking 		0.100 GeneticVariation phenotype GWASCAT Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. 28443625 2017
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		0.100 GeneticVariation phenotype GWASCAT Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. 28443625 2017
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.010 GeneticVariation disease BEFREE SNP analysis revealed HOXC11 p.Ser191Phe segregating with clubfoot in a small family and enrichment of HOXC12 rs189468720" genes_norm="3228">p.Asn176Lys in patients with clubfoot or vertical talus (rs189468720, p=0.0057, OR=3.8). 26729820 2016
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.010 GeneticVariation disease BEFREE SNP analysis revealed HOXC11 p.Ser191Phe segregating with clubfoot in a small family and enrichment of HOXC12 rs189468720" genes_norm="3228">p.Asn176Lys in patients with clubfoot or vertical talus (rs189468720, p=0.0057, OR=3.8). 26729820 2016
CUI: C0020217
Disease: Hydatidiform Mole
Hydatidiform Mole 		0.010 AlteredExpression disease BEFREE Human first trimester extraembryonic tissues of normal and androgenetic origin (molar pregnancies) were investigated for the expression of 6 homeobox genes from the chromosome 12-encoded Hox-3 cluster by non-autoradiographic in situ hybridization with biotinylated RNA probes. 1971215 1990