×
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
Nonsyndromic Deafness
0.440
Biomarker
CLINGEN
Noddy, a mouse harboring a missense mutation in protocadherin-15, reveals the impact of disrupting a critical interaction site between tip-link cadherins in inner ear hair cells.
23467356 2013
×
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
Nonsyndromic Deafness
0.440
Biomarker
CLINGEN
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.
24164807 2013
×
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
Nonsyndromic Deafness
0.440
Biomarker
CLINGEN
Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing.
23767834 2013
×
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
Nonsyndromic Deafness
0.440
Biomarker
CLINGEN
This study validates the DFNB23 designation and supports the hypothesis that missense mutations in conserved motifs of PCDH15 cause nonsyndromic hearing loss .
19107147 2009
×
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
Nonsyndromic Deafness
0.440
Biomarker
CLINGEN
Characterization of the Kyoto circling (KCI) rat carrying a spontaneous nonsense mutation in the protocadherin 15 (Pcdh15) gene.
19151506 2009
×
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
Nonsyndromic Deafness
0.440
Biomarker
CLINGEN
The Ames waltzer (av) mouse mutant harbors a mutation in the protocadherin 15 gene (Pcdh15 ) and is a model for deafness in Usher syndrome 1F and nonsyndromic deafness DFNB23 .
18085631 2008
×
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
Nonsyndromic Deafness
0.440
Biomarker
CLINGEN
Gene structure and mutant alleles of PCDH15 : nonsyndromic deafness DFNB23 and type 1 Usher syndrome.
18719945 2008
×
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
Nonsyndromic Deafness
0.440
Biomarker
CLINGEN
Mutations of PCDH15 , the gene encoding protocadherin 15 , cause either nonsyndromic deafness DFNB23 or Usher syndrome type 1F (USH1F) in humans and deafness with balance problems in Ames waltzer (av) mice.
16799054 2006
×
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
Nonsyndromic Deafness
0.440
Biomarker
CLINGEN
The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15.
16807332 2006
×
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
Nonsyndromic Deafness
0.440
Biomarker
CLINGEN
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
Nonsyndromic Deafness
0.440
Biomarker
CLINGEN
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.
14570705 2003
×
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
Nonsyndromic Deafness
0.440
Biomarker
CLINGEN
The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene.
11138007 2001
×
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
Nonsyndromic Deafness
0.410
Biomarker
CLINGEN
A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.
25601850 2015
×
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
Nonsyndromic Deafness
0.410
Biomarker
CLINGEN
Mutation of Dcdc2 in mice leads to impairments in auditory processing and memory ability.
25130614 2014
×
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
Nonsyndromic Deafness
0.410
Biomarker
CLINGEN
Exploring the transcriptome of ciliated cells using in silico dissection of human tissues.
22558177 2012
×
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
Nonsyndromic Deafness
0.400
Biomarker
CLINGEN
Identification of a MYO7A mutation in a large Chinese DFNA11 family and genotype-phenotype review for DFNA11.
29400105 2018
×
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
Nonsyndromic Deafness
0.400
Biomarker
CLINGEN
The first sporadic case of DFNA11 identified by next-generation sequencing.
28802369 2017
×
Entrez Id: 117531
Gene Symbol: TMC1
TMC1
Nonsyndromic Deafness
0.400
Biomarker
CLINGEN
Tmc1 Point Mutation Affects Ca2+ Sensitivity and Block by Dihydrostreptomycin of the Mechanoelectrical Transducer Current of Mouse Outer Hair Cells.
26758827 2016
×
Entrez Id: 117531
Gene Symbol: TMC1
TMC1
Nonsyndromic Deafness
0.400
Biomarker
CLINGEN
Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population.
26346818 2016
×
Entrez Id: 117531
Gene Symbol: TMC1
TMC1
Nonsyndromic Deafness
0.400
Biomarker
CLINGEN
A TMC1 (transmembrane channel-like 1) mutation (p.S320R) in a Polish family with hearing impairment.
25560804 2015
×
Entrez Id: 117531
Gene Symbol: TMC1
TMC1
Nonsyndromic Deafness
0.400
Biomarker
CLINGEN
Mutations in the transmembrane channel-like gene1 (TMC1 ) are known to cause autosomal dominant and recessive forms of nonsyndromic hearing loss linked to the loci of DFNA36 and DFNB7 /11, respectively.
26079994 2015
×
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
Nonsyndromic Deafness
0.400
Biomarker
CLINGEN
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.
26445815 2015
×
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
Nonsyndromic Deafness
0.400
Biomarker
CLINGEN
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
25633957 2015
×
Entrez Id: 117531
Gene Symbol: TMC1
TMC1
Nonsyndromic Deafness
0.400
Biomarker
CLINGEN
A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family.
24827932 2014
×
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
Nonsyndromic Deafness
0.400
Biomarker
CLINGEN
Application of massively parallel sequencing to genetic diagnosis in multiplex families with idiopathic sensorineural hearing impairment.
23451214 2013