×
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
hearing impairment
0.300
Biomarker
GENOMICS_ENGLAND
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
24697911 2014
×
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5
hearing impairment
0.300
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
hearing impairment
0.430
Biomarker
GENOMICS_ENGLAND
FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes.
8941379 1996
×
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
hearing impairment
0.410
Biomarker
GENOMICS_ENGLAND
Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
9734811 1998
×
Entrez Id: 411
Gene Symbol: ARSB
ARSB
hearing impairment
0.400
Biomarker
GENOMICS_ENGLAND
ATP6V1B1
hearing impairment
0.300
Biomarker
GENOMICS_ENGLAND
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.
9916796 1999
×
Entrez Id: 7809
Gene Symbol: BSND
BSND
hearing impairment
0.300
Biomarker
GENOMICS_ENGLAND
Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p.
9463315 1998
×
Entrez Id: 686
Gene Symbol: BTD
BTD
hearing impairment
0.400
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 152137
Gene Symbol: CCDC50
CCDC50
hearing impairment
0.300
Biomarker
GENOMICS_ENGLAND
A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss.
17503326 2007
×
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: 1024
Gene Symbol: CDK8
CDK8
hearing impairment
0.300
Biomarker
GENOMICS_ENGLAND
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
30905399 2019
×
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
hearing impairment
0.410
Biomarker
GENOMICS_ENGLAND
Inappropriate p53 activation during development induces features of CHARGE syndrome.
25119037 2014
×
Entrez Id: 10518
Gene Symbol: CIB2
CIB2
hearing impairment
0.320
Biomarker
GENOMICS_ENGLAND
Structure, expression profile and chromosomal location of an isolog of DNA-PKcs interacting protein (KIP) gene.
9931475 1999
×
Entrez Id: 493856
Gene Symbol: CISD2
CISD2
hearing impairment
0.300
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 23562
Gene Symbol: CLDN14
CLDN14
hearing impairment
0.400
Biomarker
GENOMICS_ENGLAND
Given the known involvement of CLDN14 gene in NSHL, DNA samples from hearing-impaired members from the four families were sequenced to potentially identify causal variants within this gene.
22246673 2012
×
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
hearing impairment
0.330
Biomarker
GENOMICS_ENGLAND
Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family.
9719374 1998
×
Entrez Id: 1690
Gene Symbol: COCH
COCH
hearing impairment
0.400
Biomarker
GENOMICS_ENGLAND
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.
9931344 1999
×
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
hearing impairment
0.320
Biomarker
GENOMICS_ENGLAND
Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).
9805126 1998
×
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
hearing impairment
0.410
Biomarker
GENOMICS_ENGLAND
The clinical spectrum of type IV collagen mutations.
9195222 1997
×
Entrez Id: 1428
Gene Symbol: CRYM
CRYM
hearing impairment
0.310
Biomarker
GENOMICS_ENGLAND
Purification, molecular cloning, and functional expression of the human nicodinamide-adenine dinucleotide phosphate-regulated thyroid hormone-binding protein.
9328354 1997
×
Entrez Id: 56616
Gene Symbol: DIABLO
DIABLO
hearing impairment
0.300
Biomarker
GENOMICS_ENGLAND
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
26969326 2016
×
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
hearing impairment
0.310
Biomarker
GENOMICS_ENGLAND
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
26463574 2016
×
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: 1834
Gene Symbol: DSPP
DSPP
hearing impairment
0.400
Biomarker
GENOMICS_ENGLAND
Assignment of dentin sialophosphoprotein (DSPP) to the critical DGI2 locus on human chromosome 4 band q21.3 by in situ hybridization.
9533027 1997
×
Entrez Id: 2103
Gene Symbol: ESRRB
ESRRB
hearing impairment
0.320
Biomarker
GENOMICS_ENGLAND
Chromosomal mapping of the human and murine orphan receptors ERRalpha (ESRRA) and ERRbeta (ESRRB) and identification of a novel human ERRalpha-related pseudogene.
9344655 1997