×
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
Nonsyndromic Deafness
0.500
Biomarker
CLINGEN
Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss.
25214170 2015
×
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
Nonsyndromic Deafness
0.500
Biomarker
CLINGEN
Evaluation of the pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss .
22617145 2013
×
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
Nonsyndromic Deafness
0.500
Biomarker
CLINGEN
Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.
19744334 2009
×
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
Nonsyndromic Deafness
0.500
Biomarker
CLINGEN
One novel mutation of Cx31 was identified in 3 patients with nonsyndromic deafness (3/62; 4.84%).
17259707 2007
×
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
Nonsyndromic Deafness
0.500
Biomarker
CLINGEN
We hypothesize that mutations in the GJB3 gene are an infrequent cause of nonsyndromic deafness .
15131355 2004
×
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
Nonsyndromic Deafness
0.500
Biomarker
CLINGEN
Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss.
12791041 2003
×
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
Nonsyndromic Deafness
0.500
Biomarker
CLINGEN
Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment.
12630965 2003
×
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
Nonsyndromic Deafness
0.500
Biomarker
CLINGEN
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.
11309368 2001
×
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
Nonsyndromic Deafness
0.500
Biomarker
CLINGEN
Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.
9843210 1998
×
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A
Nonsyndromic Deafness
0.480
Biomarker
CLINGEN
Across diverse ethnic groups, mutations of MYO15A at the DFNB3 locus appear to be the third or fourth most common cause of autosomal-recessive, nonsyndromic deafness .
27375115 2016
×
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A
Nonsyndromic Deafness
0.480
Biomarker
CLINGEN
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
26226137 2016
×
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A
Nonsyndromic Deafness
0.480
Biomarker
CLINGEN
A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing.
23208854 2013
×
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A
Nonsyndromic Deafness
0.480
Biomarker
CLINGEN
Recessive mutations of MYO15A are associated with nonsyndromic hearing loss (HL ) in humans (DFNB3 ) and in the shaker-2 mouse.
19309289 2009
×
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A
Nonsyndromic Deafness
0.480
Biomarker
CLINGEN
Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly.
15590698 2005
×
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A
Nonsyndromic Deafness
0.480
Biomarker
CLINGEN
Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia.
15654330 2005
×
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A
Nonsyndromic Deafness
0.480
Biomarker
CLINGEN
The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells.
10915760 2000
×
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A
Nonsyndromic Deafness
0.480
Biomarker
CLINGEN
Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene.
9603735 1998
×
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
Nonsyndromic Deafness
0.440
Biomarker
CLINGEN
Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.
28263850 2017
×
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
Nonsyndromic Deafness
0.440
Biomarker
CLINGEN
Spatiotemporal changes in the distribution of LHFPL5 in mice cochlear hair bundles during development and in the absence of PCDH15.
29069081 2017
×
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
Nonsyndromic Deafness
0.440
Biomarker
CLINGEN
The Effect of PCDH15 Gene Variations on the Risk of Noise-induced Hearing Loss in a Chinese Population.
28292353 2017
×
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
Nonsyndromic Deafness
0.440
Biomarker
CLINGEN
Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.
28281779 2017
×
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
Nonsyndromic Deafness
0.440
Biomarker
CLINGEN
Mutation in PCDH15 may modify the phenotypic expression of the 7511T>C mutation in MT-TS1 in a Chinese Han family with maternally inherited nonsyndromic hearing loss .
26279247 2015
×
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
Nonsyndromic Deafness
0.440
Biomarker
CLINGEN
Novel mutation located in EC7 domain of protocadherin-15 uncovered by targeted massively parallel sequencing in a family segregating non-syndromic deafness DFNB23.
25930172 2015
×
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
Nonsyndromic Deafness
0.440
Biomarker
CLINGEN
Targeted next-generation sequencing in Uyghur families with non-syndromic sensorineural hearing loss.
26011067 2015
×
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
Nonsyndromic Deafness
0.440
Biomarker
CLINGEN
TMIE is an essential component of the mechanotransduction machinery of cochlear hair cells.
25467981 2014