PCDH15, protocadherin related 15, 65217

N. diseases: 94; N. variants: 122
Disease: Usher Syndrome, Type IF ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 CausalMutation disease CLINVAR Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1. 24618850 2014
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 GeneticVariation disease CLINVAR Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1. 24618850 2014
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 GeneticVariation disease CLINVAR Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. 19683999 2010
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 CausalMutation disease CLINVAR Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. 19683999 2010
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 GeneticVariation disease CLINVAR Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F. 19375528 2009
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 GeneticVariation disease CLINVAR Mutations in the PCDH15 gene are responsible for Usher syndrome type I (USH1F) and non-syndromic hearing loss (DFNB23). 22815625 2012
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 CausalMutation disease CLINVAR Mutations in the PCDH15 gene are responsible for Usher syndrome type I (USH1F) and non-syndromic hearing loss (DFNB23). 22815625 2012
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 GeneticVariation disease BEFREE Mutations in the PCDH15 gene are responsible for Usher syndrome type I (USH1F) and non-syndromic hearing loss (DFNB23). 22815625 2012
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 GeneticVariation disease UNIPROT Mutations in the PCDH15 gene are responsible for Usher syndrome type I (USH1F) and non-syndromic hearing loss (DFNB23). 22815625 2012
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 GeneticVariation disease CLINVAR Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. 11487575 2001
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 CausalMutation disease CLINVAR Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. 11487575 2001
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 CausalMutation disease CLINVAR Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. 11398101 2001
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 GeneticVariation disease CLINVAR Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. 11398101 2001
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 GeneticVariation disease CLINVAR Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 23591405 2014
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 CausalMutation disease CLINVAR 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: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 CausalMutation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 Biomarker disease MGD Severe vestibular and auditory impairment in three alleles of Ames waltzer (av) mice. 11124469 2001
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 Biomarker disease GENOMICS_ENGLAND Structure of a force-conveying cadherin bond essential for inner-ear mechanotransduction. 23135401 2012
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 GeneticVariation disease CLINVAR Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells. 23451239 2013
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 CausalMutation disease CLINVAR Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. 16679490 2006
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 CausalMutation disease CLINVAR Targeted next generation sequencing for molecular diagnosis of Usher syndrome. 25404053 2014
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 Biomarker disease BEFREE The PCDH15 gene was mapped within the critical region and was an interesting candidate because truncating mutations cause Usher syndrome type IF (USH1F) and two missense mutations have been previously associated with isolated deafness (DFNB23). 19107147 2009
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 GeneticVariation disease CLINVAR The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells. 24940003 2014
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 Biomarker disease MGD The circling mutant Pcdh15roda is a new mouse model for hearing loss. 24044941 2014