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 Biomarker disease GENOMICS_ENGLAND
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 Biomarker disease BEFREE 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 Biomarker disease BEFREE PCDH15, encoding protocadherin 15, is mutated in Usher syndrome type 1F (USH1F) patients. 20538994 2010
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 Biomarker disease MGD A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth. 18339676 2008
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 CausalMutation disease CLINVAR A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. 12711741 2003
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 Biomarker disease MGD A quantitative survey of gravity receptor function in mutant mouse strains. 16235133 2005
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 Biomarker disease BEFREE By fluorescence in situ hybridization, we placed the human homolog of the mouse protocadherin Pcdh15 in the linkage interval defined by the USH1F locus. 11487575 2001
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 GeneticVariation disease CLINVAR Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. 26445815 2015
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 GeneticVariation disease UNIPROT Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. 15660226 2005
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 GeneticVariation disease CLINVAR Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. 15660226 2005
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 CausalMutation disease CLINVAR Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. 21569298 2011
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 GeneticVariation disease BEFREE Complete ophthalmic examinations were conducted on two boys and two girls from two related Hutterite families diagnosed with Usher syndrome type I. DNA from patients and their parents was first evaluated for a mutation in exon 10 of the protocadherin-related 15 (PCDH15) gene (c.1471delG), previously reported in southern Alberta Hutterite patients with Usher syndrome (USH1F). 22690115 2012
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 GeneticVariation disease CLINVAR Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 22135276 2012
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 GeneticVariation disease CLINVAR Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography. 25425308 2014
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 GeneticVariation disease CLINVAR Development of a genotyping microarray for Usher syndrome. 16963483 2007
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 GeneticVariation disease CLINVAR Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. 15537665 2005
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 GeneticVariation disease CLINVAR Four-year follow-up of diagnostic service in USH1 patients. 21436283 2011
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 CausalMutation disease CLINVAR Four-year follow-up of diagnostic service in USH1 patients. 21436283 2011
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 GeneticVariation disease CLINVAR Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing. 26791358 2016
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 CausalMutation disease CLINVAR Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. 18719945 2008
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 GeneticVariation disease CLINVAR Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. 18719945 2008
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 CausalMutation disease CLINVAR Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis. 27440999 2016
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 GeneticVariation disease CLINVAR Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing. 26166082 2015
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 Biomarker disease MGD Inducing mutations in the mouse genome with the chemical mutagen ethylnitrosourea. 16972005 2006
CUI: C1865885
Disease: Usher Syndrome, Type IF
Usher Syndrome, Type IF 		0.870 GeneticVariation disease BEFREE Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome. 17277737 2007