×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.400
Biomarker
disease
BEFREE
Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families.
9195157
1997
×
Entrez Id:
2707
Gene Symbol:
GJB3
GJB3
0.400
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
2707
Gene Symbol:
GJB3
GJB3
0.400
CausalMutation
disease
CLINVAR
×
Entrez Id:
64072
Gene Symbol:
CDH23
CDH23
0.320
GeneticVariation
disease
BEFREE
The aim of the present study was to elucidate the role of the non‑syndromic autosomal recessive deafness 12 allelic variant of cadherin 23 (CDH23 ) in Chinese patients with non‑syndromic hearing loss.
31322239
2019
×
Entrez Id:
64072
Gene Symbol:
CDH23
CDH23
0.320
GeneticVariation
disease
BEFREE
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23 .
11090341
2001
×
Entrez Id:
64072
Gene Symbol:
CDH23
CDH23
0.320
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
79955
Gene Symbol:
PDZD7
PDZD7
0.310
Biomarker
disease
CLINGEN
Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.
26849169
2018
×
Entrez Id:
79955
Gene Symbol:
PDZD7
PDZD7
0.310
Biomarker
disease
CLINGEN
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.
28173822
2017
×
Entrez Id:
79955
Gene Symbol:
PDZD7
PDZD7
0.310
Biomarker
disease
CLINGEN
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.
27068579
2016
×
Entrez Id:
79955
Gene Symbol:
PDZD7
PDZD7
0.310
Biomarker
disease
CLINGEN
PDZD7-MYO7A complex identified in enriched stereocilia membranes.
27525485
2016
×
Entrez Id:
79955
Gene Symbol:
PDZD7
PDZD7
0.310
Biomarker
disease
CLINGEN
PDZD7 and hearing loss: More than just a modifier.
26416264
2015
×
Entrez Id:
79955
Gene Symbol:
PDZD7
PDZD7
0.310
Biomarker
disease
CLINGEN
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.
26445815
2015
×
Entrez Id:
79955
Gene Symbol:
PDZD7
PDZD7
0.310
Biomarker
disease
CLINGEN
Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice.
24334608
2014
×
Entrez Id:
79955
Gene Symbol:
PDZD7
PDZD7
0.310
Biomarker
disease
CLINGEN
Characterization of transcriptomes of cochlear inner and outer hair cells.
25122905
2014
×
Entrez Id:
79955
Gene Symbol:
PDZD7
PDZD7
0.310
Biomarker
disease
CLINGEN
Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network.
23055499
2012
×
Entrez Id:
79955
Gene Symbol:
PDZD7
PDZD7
0.310
Biomarker
disease
BEFREE
Collectively, our data provide strong evidence that PDZD7 is a new autosomal-recessive deafness -causing gene and also a prime candidate gene for Usher syndrome.
19028668
2009
×
Entrez Id:
79955
Gene Symbol:
PDZD7
PDZD7
0.310
Biomarker
disease
CLINGEN
Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.
19028668
2009
×
Entrez Id:
23312
Gene Symbol:
DMXL2
DMXL2
0.300
Biomarker
disease
CLINGEN
A dominant variant in DMXL2 is linked to nonsyndromic hearing loss.
27657680
2017
×
Entrez Id:
23558
Gene Symbol:
WBP2
WBP2
0.300
Biomarker
disease
CLINGEN
Wbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearing.
26881968
2016
×
Entrez Id:
2059
Gene Symbol:
EPS8
EPS8
0.300
Biomarker
disease
CLINGEN
Distinct roles of Eps8 in the maturation of cochlear and vestibular hair cells.
27132230
2016
×
Entrez Id:
2059
Gene Symbol:
EPS8
EPS8
0.300
Biomarker
disease
CLINGEN
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.
27344577
2016
×
Entrez Id:
11078
Gene Symbol:
TRIOBP
TRIOBP
0.300
Biomarker
disease
CLINGEN
A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records.
27764096
2016
×
Entrez Id:
2059
Gene Symbol:
EPS8
EPS8
0.300
Biomarker
disease
CLINGEN
Alternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell Stereocilia.
27117407
2016
×
Entrez Id:
11078
Gene Symbol:
TRIOBP
TRIOBP
0.300
Biomarker
disease
CLINGEN
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.
27344577
2016
×
Entrez Id:
374462
Gene Symbol:
PTPRQ
PTPRQ
0.300
Biomarker
disease
CLINGEN
Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family.
25919374
2015