×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
hearing impairment
0.700
Biomarker
GENOMICS_ENGLAND
Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene.
9920104
1999
×
Entrez Id:
65217
Gene Symbol:
PCDH15
PCDH15
hearing impairment
0.630
Biomarker
GENOMICS_ENGLAND
Structure of a force-conveying cadherin bond essential for inner-ear mechanotransduction.
23135401
2012
×
Entrez Id:
124590
Gene Symbol:
USH1G
USH1G
hearing impairment
0.620
Biomarker
GENOMICS_ENGLAND
Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.
24608321
2014
×
Entrez Id:
253827
Gene Symbol:
MSRB3
MSRB3
hearing impairment
0.600
Biomarker
GENOMICS_ENGLAND
Methionine sulfoxide reductase B3 deficiency causes hearing loss due to stereocilia degeneration and apoptotic cell death in cochlear hair cells.
24191262
2014
×
Entrez Id:
1687
Gene Symbol:
GSDME
GSDME
hearing impairment
0.570
Biomarker
GENOMICS_ENGLAND
We previously reported linkage to chromosome 7p15 for autosomal dominant hearing impairment segregating in an extended Dutch family (DFNA5 ).
9771715
1998
×
Entrez Id:
9414
Gene Symbol:
TJP2
TJP2
hearing impairment
0.510
Biomarker
GENOMICS_ENGLAND
Genetic analysis of genes related to tight junction function in the Korean population with non-syndromic hearing loss.
24752540
2014
×
Entrez Id:
1786
Gene Symbol:
DNMT1
DNMT1
hearing impairment
0.510
Biomarker
GENOMICS_ENGLAND
Sex-specific exons control DNA methyltransferase in mammalian germ cells.
9449671
1998
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
hearing impairment
0.500
Biomarker
GENOMICS_ENGLAND
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
31160754
2019
×
Entrez Id:
7007
Gene Symbol:
TECTA
TECTA
hearing impairment
0.500
Biomarker
GENOMICS_ENGLAND
An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.
9949200
1999
×
Entrez Id:
2707
Gene Symbol:
GJB3
GJB3
hearing impairment
0.500
Biomarker
GENOMICS_ENGLAND
To study the possible involvement of other members of the connexin family in hereditary hearing impairment , we cloned the gene (GJB3 ) encoding human gap junction protein beta-3 using homologous EST searching and nested PCR.
9843210
1998
×
Entrez Id:
4647
Gene Symbol:
MYO7A
MYO7A
hearing impairment
0.500
Biomarker
GENOMICS_ENGLAND
Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.
9843659
1998
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
hearing impairment
0.500
Biomarker
GENOMICS_ENGLAND
Expression of the gap-junction connexins 26 and 30 in the rat cochlea.
9799458
1998
×
Entrez Id:
7466
Gene Symbol:
WFS1
WFS1
hearing impairment
0.500
Biomarker
GENOMICS_ENGLAND
Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein.
9817917
1998
×
Entrez Id:
9381
Gene Symbol:
OTOF
OTOF
hearing impairment
0.480
Biomarker
GENOMICS_ENGLAND
Transient deafness due to temperature-sensitive auditory neuropathy.
9657592
1998
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
hearing impairment
0.480
Biomarker
GENOMICS_ENGLAND
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
9624053
1998
×
Entrez Id:
2070
Gene Symbol:
EYA4
EYA4
hearing impairment
0.470
Biomarker
GENOMICS_ENGLAND
EYA4, a novel vertebrate gene related to Drosophila eyes absent.
9887327
1999
×
Entrez Id:
64072
Gene Symbol:
CDH23
CDH23
hearing impairment
0.470
Biomarker
GENOMICS_ENGLAND
Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers.
2706105
1989
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
hearing impairment
0.460
Biomarker
GENOMICS_ENGLAND
Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression.
23255163
2013
×
Entrez Id:
117531
Gene Symbol:
TMC1
TMC1
hearing impairment
0.450
Biomarker
GENOMICS_ENGLAND
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:
5631
Gene Symbol:
PRPS1
PRPS1
hearing impairment
0.450
Biomarker
GENOMICS_ENGLAND
Mapping of DFN2 to Xq22.
8968763
1996
×
Entrez Id:
25861
Gene Symbol:
WHRN
WHRN
hearing impairment
0.430
Biomarker
GENOMICS_ENGLAND
Non-USH2A mutations in USH2 patients.
22147658
2012
×
Entrez Id:
11078
Gene Symbol:
TRIOBP
TRIOBP
hearing impairment
0.430
Biomarker
GENOMICS_ENGLAND
Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing.
20510926
2010
×
Entrez Id:
220074
Gene Symbol:
LRTOMT
LRTOMT
hearing impairment
0.430
Biomarker
GENOMICS_ENGLAND
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.
18953341
2008
×
Entrez Id:
10083
Gene Symbol:
USH1C
USH1C
hearing impairment
0.430
Biomarker
GENOMICS_ENGLAND
The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region.
9760205
1998
×
Entrez Id:
51168
Gene Symbol:
MYO15A
MYO15A
hearing impairment
0.430
Biomarker
GENOMICS_ENGLAND
Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.
9603736
1998