Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Nonsyndromic Deafness
CUI: C3711374
Disease: Nonsyndromic Deafness
0.020 GeneticVariation BEFREE The p.P240L variant of CDH23 and the risk of nonsyndromic hearing loss: a meta-analysis. 30367262 2019
Nonsyndromic Deafness
CUI: C3711374
Disease: Nonsyndromic Deafness
0.020 GeneticVariation BEFREE Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population. 26264712 2015