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: 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: 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: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		0.300 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: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		0.300 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: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		0.300 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: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		0.300 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