Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C1384666
Disease: hearing impairment
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
CUI: C1384666
Disease: hearing impairment
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
CUI: C1384666
Disease: hearing impairment
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
CUI: C1384666
Disease: hearing impairment
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
CUI: C1384666
Disease: hearing impairment
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
CUI: C1384666
Disease: hearing impairment
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
CUI: C1384666
Disease: hearing impairment
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
CUI: C1384666
Disease: hearing impairment
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
CUI: C1384666
Disease: hearing impairment
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
CUI: C1384666
Disease: hearing impairment
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
CUI: C1384666
Disease: hearing impairment
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
CUI: C1384666
Disease: hearing impairment
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
CUI: C1384666
Disease: hearing impairment
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
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.480 Biomarker GENOMICS_ENGLAND Transient deafness due to temperature-sensitive auditory neuropathy. 9657592

1998

Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1384666
Disease: hearing impairment
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
CUI: C1384666
Disease: hearing impairment
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
CUI: C1384666
Disease: hearing impairment
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
CUI: C1384666
Disease: hearing impairment
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
CUI: C1384666
Disease: hearing impairment
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
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.450 Biomarker GENOMICS_ENGLAND Mapping of DFN2 to Xq22. 8968763

1996

Entrez Id: 25861
Gene Symbol: WHRN
WHRN
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.430 Biomarker GENOMICS_ENGLAND Non-USH2A mutations in USH2 patients. 22147658

2012

Entrez Id: 11078
Gene Symbol: TRIOBP
TRIOBP
CUI: C1384666
Disease: hearing impairment
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
CUI: C1384666
Disease: hearing impairment
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
CUI: C1384666
Disease: hearing impairment
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
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.430 Biomarker GENOMICS_ENGLAND Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. 9603736

1998