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 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 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 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 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 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 CausalMutation disease CLINVAR Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12). 15353998 2004