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: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 Biomarker CLINGEN 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
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 Biomarker CLINGEN Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome. 20513143

2010
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 Biomarker CLINGEN The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions. 12407180

2002
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 Biomarker CLINGEN 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
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 Biomarker CLINGEN Genomic structure, alternative splice forms and normal and mutant alleles of cadherin 23 (Cdh23). 11750125

2001
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.700 Biomarker CLINGEN Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. 11090341

2001
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.500 Biomarker CLINGEN 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
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.500 Biomarker CLINGEN Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome. 20513143

2010
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.500 Biomarker CLINGEN The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions. 12407180

2002
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.500 Biomarker CLINGEN 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
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.500 Biomarker CLINGEN Genomic structure, alternative splice forms and normal and mutant alleles of cadherin 23 (Cdh23). 11750125

2001
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.500 Biomarker CLINGEN Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. 11090341

2001
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
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.300 Biomarker CLINGEN 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
CUI: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		0.300 Biomarker CLINGEN 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
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.300 Biomarker CLINGEN 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
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.300 Biomarker CLINGEN Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome. 20513143

2010
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		0.300 Biomarker CLINGEN Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome. 20513143

2010
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.300 Biomarker CLINGEN Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome. 20513143

2010
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		0.300 Biomarker CLINGEN The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions. 12407180

2002