×
Entrez Id:
25861
Gene Symbol:
WHRN
WHRN
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
124590
Gene Symbol:
USH1G
USH1G
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
160335
Gene Symbol:
TMTC2
TMTC2
0.500
Biomarker
phenotype
CTD_human
Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss.
27311106
2016
×
Entrez Id:
160335
Gene Symbol:
TMTC2
TMTC2
0.500
Biomarker
phenotype
GENOMICS_ENGLAND
Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss.
27311106
2016
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
0.010
GeneticVariation
phenotype
LHGDN
We identified mutations in TMPRSS3 in four Pakistani families with recessive, nonsyndromic congenital deafness .
15447792
2004
×
Entrez Id:
117531
Gene Symbol:
TMC1
TMC1
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
7007
Gene Symbol:
TECTA
TECTA
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
6888
Gene Symbol:
TALDO1
TALDO1
0.010
Biomarker
phenotype
LHGDN
Transaldolase deficiency in a two-year-old boy with cirrhosis.
18331807
2008
×
Entrez Id:
84221
Gene Symbol:
SPATC1L
SPATC1L
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss.
30177775
2019
×
Entrez Id:
4089
Gene Symbol:
SMAD4
SMAD4
0.300
Biomarker
phenotype
CTD_human
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
22158539
2011
×
Entrez Id:
83959
Gene Symbol:
SLC4A11
SLC4A11
0.010
Biomarker
phenotype
LHGDN
Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13.
11836359
2002
×
Entrez Id:
375611
Gene Symbol:
SLC26A5
SLC26A5
0.300
Biomarker
phenotype
CTD_human
We have identified a 5'-UTR splice acceptor mutation (IVS2-2A>G) in exon 3 of the prestin gene, which is responsible for recessive non-syndromic deafness in two unrelated families.
12719379
2003
SLC26A4-AS1
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
10723
Gene Symbol:
SLC12A7
SLC12A7
0.010
Biomarker
phenotype
LHGDN
Similar to some human genetic syndromes(), deafness in Kcc4 -deficient mice is associated with renal tubular acidosis.
11976689
2002
×
Entrez Id:
84947
Gene Symbol:
SERAC1
SERAC1
0.300
Biomarker
phenotype
CTD_human
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness .
22683713
2012
×
Entrez Id:
345895
Gene Symbol:
RSPH4A
RSPH4A
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
×
Entrez Id:
345895
Gene Symbol:
RSPH4A
RSPH4A
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.
26073779
2015
×
Entrez Id:
4549
Gene Symbol:
RNR1
RNR1
0.300
Biomarker
phenotype
CTD_human
Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss.
15722487
2005
×
Entrez Id:
4549
Gene Symbol:
RNR1
RNR1
0.300
Biomarker
phenotype
CTD_human
Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder.
9391883
1997
×
Entrez Id:
4549
Gene Symbol:
RNR1
RNR1
0.300
Biomarker
phenotype
CTD_human
Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA gene.
12031626
2002
×
Entrez Id:
4549
Gene Symbol:
RNR1
RNR1
0.300
Biomarker
phenotype
CTD_human
Aminoglycoside-induced hearing loss in a patient with the 961 mutation in mitochondrial DNA.
12037390
2002
×
Entrez Id:
5979
Gene Symbol:
RET
RET
0.200
Biomarker
phenotype
RGD
Upregulation of glial cell line-derived neurotrophic factor and artemin mRNA in the auditory nerve of deafened rats.
16738479
2006
×
Entrez Id:
374462
Gene Symbol:
PTPRQ
PTPRQ
0.100
CausalMutation
phenotype
CLINVAR