GJD2, gap junction protein delta 2, 57369

N. diseases: 29; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0034951
Disease: Refractive Errors
Refractive Errors
0.320 GeneticVariation group BEFREE In addition, our results contribute to the increasing evidence that variation in the GJD2 and PRSS56 genes influence the development of refractive errors. 27440996 2016
CUI: C0034951
Disease: Refractive Errors
Refractive Errors
0.320 GeneticVariation group BEFREE Three genetic loci SHISA6-DNAH9, GJD2 and ZMAT4-SFRP1 exhibited a strong association with myopic refractive error in individuals with higher secondary or university education (SHISA6-DNAH9: rs2969180 A allele, β = -0.33 D, P = 3.6 × 10(-6); GJD2: rs524952 A allele, β = -0.31 D, P = 1.68 × 10(-5); ZMAT4-SFRP1: rs2137277 A allele, β = -0.47 D, P = 1.68 × 10(-4)), whereas the association at these loci was non-significant or of borderline significance in those with lower secondary education or below (P for interaction: 3.82 × 10(-3)-4.78 × 10(-4)). 24014484 2014
CUI: C0034951
Disease: Refractive Errors
Refractive Errors
0.320 Biomarker group CTD_human A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14. 20835239 2010