Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 643226
Gene Symbol: GRXCR2
GRXCR2
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN Grxcr2 is required for stereocilia morphogenesis in the cochlea. 30157177

2018

Entrez Id: 9455
Gene Symbol: HOMER2
HOMER2
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN Whole exome sequencing identified a second pathogenic variant in HOMER2 for autosomal dominant non-syndromic deafness. 30047143

2018

Entrez Id: 124590
Gene Symbol: USH1G
USH1G
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment. 30029624

2018

Entrez Id: 23562
Gene Symbol: CLDN14
CLDN14
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN Measurements of ionic concentrations along with endocochlear potential in wild-type and claudin 14 knockout mice. 28811056

2018

Entrez Id: 643226
Gene Symbol: GRXCR2
GRXCR2
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN GRXCR2 Regulates Taperin Localization Critical for Stereocilia Morphology and Hearing. 30380417

2018

Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients. 29048421

2018

Entrez Id: 64787
Gene Symbol: EPS8L2
EPS8L2
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. 28281779

2017

Entrez Id: 340990
Gene Symbol: OTOG
OTOG
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN Delayed Otolith Development Does Not Impair Vestibular Circuit Formation in Zebrafish. 28332011

2017

Entrez Id: 80736
Gene Symbol: SLC44A4
SLC44A4
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss. 28013291

2017

Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family. 28951997

2017

Entrez Id: 23562
Gene Symbol: CLDN14
CLDN14
CUI: C3711374
Disease: Nonsyndromic Deafness
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

Entrez Id: 375611
Gene Symbol: SLC26A5
SLC26A5
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326

2016

Entrez Id: 124590
Gene Symbol: USH1G
USH1G
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN This is the first family presented with nonsyndromic hearing loss caused by mutations in USH1G. 25255398

2016

Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System. 27068579

2016

Entrez Id: 4919
Gene Symbol: ROR1
ROR1
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice. 27162350

2016

Entrez Id: 152137
Gene Symbol: CCDC50
CCDC50
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients. 27911912

2016

Entrez Id: 54084
Gene Symbol: TSPEAR
TSPEAR
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875

2016

Entrez Id: 124590
Gene Symbol: USH1G
USH1G
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. 26226137

2016

Entrez Id: 124590
Gene Symbol: USH1G
USH1G
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326

2016

Entrez Id: 9750
Gene Symbol: RIPOR2
RIPOR2
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN Murine Fam65b forms ring-like structures at the base of stereocilia critical for mechanosensory hair cell function. 27269051

2016

Entrez Id: 146183
Gene Symbol: OTOA
OTOA
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326

2016

Entrez Id: 54084
Gene Symbol: TSPEAR
TSPEAR
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326

2016

Entrez Id: 375611
Gene Symbol: SLC26A5
SLC26A5
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN Overlapping expression of anion exchangers in the cochlea of a non-human primate suggests functional compensation. 27091614

2016

Entrez Id: 79977
Gene Symbol: GRHL2
GRHL2
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN Distinct Expression Patterns Of Causative Genes Responsible For Hereditary Progressive Hearing Loss In Non-Human Primate Cochlea. 26915689

2016

Entrez Id: 23562
Gene Symbol: CLDN14
CLDN14
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.300 Biomarker CLINGEN Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil. 27870113

2016