POU2F1, POU class 2 homeobox 1, 5451

N. diseases: 115; N. variants: 7
Disease: LACTASE PERSISTENCE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857231
Disease: LACTASE PERSISTENCE
LACTASE PERSISTENCE 		0.040 GeneticVariation phenotype BEFREE The -14010*C variant associated with lactase persistence is located between an Oct-1 and HNF1α binding site and increases lactase promoter activity. 21327791 2011
CUI: C1857231
Disease: LACTASE PERSISTENCE
LACTASE PERSISTENCE 		0.040 Biomarker phenotype BEFREE Oct-1 binding to the -13907 to -13915 SNP region therefore remains a candidate interaction involved in lactase persistence. 20960210 2011
CUI: C1857231
Disease: LACTASE PERSISTENCE
LACTASE PERSISTENCE 		0.040 Biomarker phenotype BEFREE Despite its location, -13915*G abolishes, rather than enhances Oct-1 binding, indicating that this particular interaction is unlikely to be involved in lactase persistence. 17120047 2007
CUI: C1857231
Disease: LACTASE PERSISTENCE
LACTASE PERSISTENCE 		0.040 GeneticVariation phenotype BEFREE The data suggest that the binding of Oct-1 to the T-13,910 variant directs increased lactase promoter activity and this might provide an explanation for the lactase persistence phenotype in the human population. 16301215 2005