×
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
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
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
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
Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.
9843210 1998
×
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
Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.
19744334 2009
×
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
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
Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene.
9603735 1998
×
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
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
Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia.
15654330 2005
×
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
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
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
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
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
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
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
Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.
15537665 2005