Gene: CDH23 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 GeneticVariation disease BEFREE Recurrence of reported CDH23 mutations causing DFNB12 in a special cohort of South Indian hearing impaired assortative mating families - an evaluation. 29148562 2018
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 Biomarker disease BEFREE Simultaneously, this study provides a foundation to further elucidate the CDH23-related mechanisms of DFNB12. 29287849 2018
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 GeneticVariation disease BEFREE Allelic variants of CDH23 cause both Usher syndrome type 1D (USH1D) and a form of nonsyndromic hearing loss (DFNB12). 26878454 2016
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 GeneticVariation disease BEFREE This study demonstrates an important contribution of CDH23 mutations to poslingual NS-SNHL and shows that the phenotypic spectrum of DFNB12 can be broadened even into the presbycusis, depending on the pathogenic potential of variants. 27792758 2016
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 CausalMutation disease CLINVAR 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
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 GeneticVariation disease UNIPROT Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing. 24767429 2014
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 CausalMutation disease CLINVAR Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1. 24618850 2014
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 CausalMutation disease CLINVAR Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients. 23967202 2013
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 CausalMutation disease CLINVAR Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study. 22899989 2012
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 GeneticVariation disease UNIPROT Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study. 22899989 2012
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 Biomarker disease MGD A new mouse mutant of the Cdh23 gene with early-onset hearing loss facilitates evaluation of otoprotection drugs. 20644563 2012
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 Biomarker disease MGD An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice. 21689626 2011
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 CausalMutation disease CLINVAR Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. 21940737 2011
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 Biomarker disease MGD In a forward genetic screen, we have identified salsa mice, which suffer from hearing loss due to a Cdh23 missense mutation modeling DFNB12. 19270079 2009
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 CausalMutation disease CLINVAR Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss. 17850630 2007
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 GeneticVariation disease UNIPROT Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss. 17850630 2007
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 Biomarker disease MGD A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. 17329413 2007
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 GeneticVariation disease UNIPROT Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. 16679490 2006
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 GeneticVariation disease UNIPROT Modification of human hearing loss by plasma-membrane calcium pump PMCA2. 15829536 2005
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 GeneticVariation disease BEFREE Recessive missense mutations in CDH23 lead to a milder phenotype (DFNB12) than splice-site mutations (USH1D); however, abnormal bilateral flecks, suggestive for lipofuscin accumulation, can be observed in DFNB12 patients. 15353998 2004
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 CausalMutation disease CLINVAR Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12). 15353998 2004
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 CausalMutation disease CLINVAR Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family. 12522556 2003
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 GeneticVariation disease UNIPROT Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family. 12522556 2003
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 CausalMutation disease CLINVAR CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. 12075507 2002
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 GeneticVariation disease UNIPROT CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. 12075507 2002