×
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
Nonsyndromic Deafness
0.330
Biomarker
CLINGEN
β-actin and γ-actin are each dispensable for auditory hair cell development but required for Stereocilia maintenance.
20976199 2010
×
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
Nonsyndromic Deafness
0.360
Biomarker
CLINGEN
MYO6 , the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss .11468689 2001
×
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
Nonsyndromic Deafness
0.390
Biomarker
CLINGEN
CDH23 null alleles cause deaf-blindness (Usher syndrome type 1D; USH1D ), whereas missense mutations cause nonsyndromic deafness (DFNB12).19270079 2009
×
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
Nonsyndromic Deafness
0.380
Biomarker
CLINGEN
TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss .26036852 2016
×
Entrez Id: 23562
Gene Symbol: CLDN14
CLDN14
Nonsyndromic Deafness
0.300
Biomarker
CLINGEN
A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.
27838790 2017
MARVELD2
Nonsyndromic Deafness
0.340
Biomarker
CLINGEN
A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran.
22903915 2012
×
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
Nonsyndromic Deafness
0.340
Biomarker
CLINGEN
A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran.
22903915 2012
×
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
Nonsyndromic Deafness
0.330
Biomarker
CLINGEN
A deafness mutation isolates a second role for the tectorial membrane in hearing.
15995703 2005
×
Entrez Id: 125336
Gene Symbol: LOXHD1
LOXHD1
Nonsyndromic Deafness
0.310
Biomarker
CLINGEN
A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.
21465660 2011
×
Entrez Id: 259236
Gene Symbol: TMIE
TMIE
Nonsyndromic Deafness
0.320
Biomarker
CLINGEN
A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia.
19438934 2009
×
Entrez Id: 643226
Gene Symbol: GRXCR2
GRXCR2
Nonsyndromic Deafness
0.300
Biomarker
CLINGEN
A frameshift mutation in GRXCR2 causes recessively inherited hearing loss.
24619944 2014
×
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
Nonsyndromic Deafness
0.330
Biomarker
CLINGEN
A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations.
15319541 2004
SERPINB6
Nonsyndromic Deafness
0.300
Biomarker
CLINGEN
A homozygous mutation of SERPINB6 , a gene encoding an intracellular protease inhibitor, has recently been associated with post-lingual, autosomal-recessive, nonsyndromic hearing loss in humans (DFNB91 ).
23669344 2013
×
Entrez Id: 9132
Gene Symbol: KCNQ4
KCNQ4
Nonsyndromic Deafness
0.390
Biomarker
CLINGEN
A Japanese family showing high-frequency hearing loss with KCNQ4 and TECTA mutations.
24655070 2014
×
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
Nonsyndromic Deafness
0.410
Biomarker
CLINGEN
A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.
25601850 2015
×
Entrez Id: 222662
Gene Symbol: LHFPL5
LHFPL5
Nonsyndromic Deafness
0.340
Biomarker
CLINGEN
A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice.
15905332 2005
×
Entrez Id: 146183
Gene Symbol: OTOA
OTOA
Nonsyndromic Deafness
0.300
Biomarker
CLINGEN
A mouse model for human deafness DFNB22 reveals that hearing impairment is due to a loss of inner hair cell stimulation.
23129639 2012
×
Entrez Id: 53904
Gene Symbol: MYO3A
MYO3A
Nonsyndromic Deafness
0.310
Biomarker
CLINGEN
A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA.
21165622 2011
×
Entrez Id: 51475
Gene Symbol: CABP2
CABP2
Nonsyndromic Deafness
0.310
Biomarker
CLINGEN
A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment.
22981119 2012
×
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
Nonsyndromic Deafness
0.330
Biomarker
CLINGEN
A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).
14684684 2003
×
Entrez Id: 4233
Gene Symbol: MET
MET
Nonsyndromic Deafness
0.300
Biomarker
CLINGEN
A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss.
25941349 2015
×
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
Nonsyndromic Deafness
0.400
Biomarker
CLINGEN
A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment.
15389316 2004
×
Entrez Id: 375611
Gene Symbol: SLC26A5
SLC26A5
Nonsyndromic Deafness
0.300
Biomarker
CLINGEN
A new mutation in the human pres gene and its effect on prestin function.
17786286 2007
×
Entrez Id: 340990
Gene Symbol: OTOG
OTOG
Nonsyndromic Deafness
0.300
Biomarker
CLINGEN
A new Otogelin ENU mouse model for autosomal-recessive nonsyndromic moderate hearing impairment.
26636018 2015
×
Entrez Id: 2103
Gene Symbol: ESRRB
ESRRB
Nonsyndromic Deafness
0.310
Biomarker
CLINGEN
A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families.
22567352 2011