×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.400
Biomarker
CLINGEN
Perinatal Gjb2 gene transfer rescues hearing in a mouse model of hereditary deafness.
25801282
2015
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.400
Biomarker
CLINGEN
BAAV mediated GJB2 gene transfer restores gap junction coupling in cochlear organotypic cultures from deaf Cx26Sox10Cre mice.
21876744
2011
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.400
Biomarker
CLINGEN
Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss.
15241677
2004
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.400
Biomarker
CLINGEN
Hearing loss: frequency and functional studies of the most common connexin26 alleles.
12176036
2002
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.400
Biomarker
CLINGEN
Connexin-26 mutations in sporadic and inherited sensorineural deafness.
9482292
1998
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.400
Biomarker
CLINGEN
A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).
9507396
1998
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.400
Biomarker
CLINGEN
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
9529365
1998
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.400
Biomarker
CLINGEN
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.
9139825
1997
×
Entrez Id:
79955
Gene Symbol:
PDZD7
PDZD7
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.310
Biomarker
CLINGEN
Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.
26849169
2018
×
Entrez Id:
79955
Gene Symbol:
PDZD7
PDZD7
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.310
Biomarker
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
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.310
Biomarker
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
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.310
Biomarker
CLINGEN
PDZD7-MYO7A complex identified in enriched stereocilia membranes.
27525485
2016
×
Entrez Id:
79955
Gene Symbol:
PDZD7
PDZD7
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.310
Biomarker
CLINGEN
PDZD7 and hearing loss: More than just a modifier.
26416264
2015
×
Entrez Id:
79955
Gene Symbol:
PDZD7
PDZD7
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.310
Biomarker
CLINGEN
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.
26445815
2015
×
Entrez Id:
79955
Gene Symbol:
PDZD7
PDZD7
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.310
Biomarker
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
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.310
Biomarker
CLINGEN
Characterization of transcriptomes of cochlear inner and outer hair cells.
25122905
2014
×
Entrez Id:
79955
Gene Symbol:
PDZD7
PDZD7
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.310
Biomarker
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
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.310
Biomarker
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
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.300
Biomarker
CLINGEN
A dominant variant in DMXL2 is linked to nonsyndromic hearing loss.
27657680
2017
×
Entrez Id:
23558
Gene Symbol:
WBP2
WBP2
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.300
Biomarker
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
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.300
Biomarker
CLINGEN
Distinct roles of Eps8 in the maturation of cochlear and vestibular hair cells.
27132230
2016
×
Entrez Id:
2059
Gene Symbol:
EPS8
EPS8
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.300
Biomarker
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
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.300
Biomarker
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
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.300
Biomarker
CLINGEN
Alternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell Stereocilia.
27117407
2016
×
Entrez Id:
11078
Gene Symbol:
TRIOBP
TRIOBP
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.300
Biomarker
CLINGEN
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.
27344577
2016