Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 Biomarker CLINGEN ER stress inhibitor attenuates hearing loss and hair cell death in Cdh23erl/erl mutant mice. 27882946

2016
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 Biomarker CLINGEN Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study. 22899989

2012
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 Biomarker CLINGEN 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
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 Biomarker CLINGEN Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. 19888295

2010
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 Biomarker CLINGEN CDH23 null alleles cause deaf-blindness (Usher syndrome type 1D; USH1D), whereas missense mutations cause nonsyndromic deafness (DFNB12). 19270079

2009
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.390 Biomarker CLINGEN Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss. 17850630

2007