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 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 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 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 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 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 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 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 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 CausalMutation disease CLINVAR The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa. 15028842 2004
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 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 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 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 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 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
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 GeneticVariation disease CLINVAR UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes. 18484607 2008
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 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 Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F. 19375528 2009