PCDH15, protocadherin related 15, 65217

N. diseases: 94; N. variants: 122
Disease: Deafness, Autosomal Recessive 23 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		0.920 GeneticVariation disease UNIPROT Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. 28281779 2017
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		0.920 CausalMutation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		0.920 CausalMutation disease CLINVAR Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. 25262649 2014
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		0.920 CausalMutation disease CLINVAR Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing. 24105371 2014
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		0.920 CausalMutation disease CLINVAR Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F. 25307757 2014
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		0.920 Biomarker disease MGD The circling mutant Pcdh15roda is a new mouse model for hearing loss. 24044941 2014
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		0.920 Biomarker disease GENOMICS_ENGLAND Structure of a force-conveying cadherin bond essential for inner-ear mechanotransduction. 23135401 2012
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		0.920 CausalMutation disease CLINVAR Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I. 22815625 2012
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		0.920 GeneticVariation disease BEFREE Like the two DFNB23 mutations, the V528D mutation in Family A occurs in a highly conserved extracellular cadherin (EC) domain of PCDH15 and is predicted to be more deleterious than the previously identified DFNB23 missense mutations (R134G and G262D). 19107147 2009
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		0.920 GeneticVariation disease BEFREE Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. 18719945 2008
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		0.920 GeneticVariation disease UNIPROT Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. 18719945 2008
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		0.920 Biomarker disease MGD Inducing mutations in the mouse genome with the chemical mutagen ethylnitrosourea. 16972005 2006
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		0.920 CausalMutation disease CLINVAR A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. 12711741 2003
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		0.920 GeneticVariation disease UNIPROT 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: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		0.920 Biomarker disease CTD_human
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		0.920 Biomarker disease GENOMICS_ENGLAND
CUI: C1836027
Disease: Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 23 		0.920 GeneticVariation disease CLINVAR