Gene: PCDH15 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15 		0.600 CausalMutation disease CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967 2016
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15 		0.600 CausalMutation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15 		0.600 CausalMutation disease CLINVAR Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F. 25307757 2014
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15 		0.600 CausalMutation disease CLINVAR Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. 25262649 2014
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15 		0.600 CausalMutation disease CLINVAR Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I. 22815625 2012
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15 		0.600 Biomarker disease GENOMICS_ENGLAND Structure of a force-conveying cadherin bond essential for inner-ear mechanotransduction. 23135401 2012
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15 		0.600 GeneticVariation disease UNIPROT Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. 18719945 2008
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15 		0.600 GeneticVariation disease UNIPROT Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. 15537665 2005
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15 		0.600 CausalMutation disease CLINVAR A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. 12711741 2003
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15 		0.600 Biomarker disease GENOMICS_ENGLAND