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