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 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 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 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 Six missense mutations were found in five families with DFNB12, and two nonsense and two frameshift mutations were found in four families with USH1D. 11090341 2001
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 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 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 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 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 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 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 GeneticVariation disease UNIPROT 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 CLINVAR
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 Biomarker disease GENOMICS_ENGLAND Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers. 2706105 1989
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 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 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 Biomarker disease CTD_human
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.950 Biomarker disease GENOMICS_ENGLAND Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. 11138009 2001
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 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 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 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 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 CausalMutation disease CLINVAR Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1. 24618850 2014