PCDH15, protocadherin related 15, 65217

N. diseases: 94; N. variants: 122
Disease: hearing impairment ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.630 GeneticVariation phenotype BEFREE In patients with both visual and hearing impairments, the biallelic disease-causing mutation rate was assessed for each Usher gene to propose a classification by frequency: USH2A: 50% (341/684) of patients, MYO7A: 21% (144/684), CDH23: 6% (39/684), ADGRV1: 5% (35/684), PCDH15: 3% (21/684), USH1C: 2% (17/684), CLRN1: 2% (14/684), USH1G: 1% (9/684), WHRN: 0.4% (3/684), PDZD7 0.1% (1/684), CIB2 (0/684). 30531642 2019
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.630 GeneticVariation phenotype BEFREE Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment. 30029624 2018
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.630 Biomarker phenotype CTD_human Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment. 30029624 2018
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.630 Biomarker phenotype GENOMICS_ENGLAND Structure of a force-conveying cadherin bond essential for inner-ear mechanotransduction. 23135401 2012
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.630 GeneticVariation phenotype LHGDN PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. 14570705 2003
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.630 GeneticVariation phenotype CLINVAR
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.630 Biomarker phenotype HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.630 CausalMutation phenotype CLINVAR