Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 107
Gene Symbol: ADCY1
ADCY1
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker CLINGEN Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. 24482543

2014
Entrez Id: 53405
Gene Symbol: CLIC5
CLIC5
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker CLINGEN Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5. 24781754

2015
Entrez Id: 53405
Gene Symbol: CLIC5
CLIC5
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker CLINGEN The chloride intracellular channel protein CLIC5 is expressed at high levels in hair cell stereocilia and is essential for normal inner ear function. 17021174

2006
Entrez Id: 53405
Gene Symbol: CLIC5
CLIC5
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker CLINGEN CLIC5 stabilizes membrane-actin filament linkages at the base of hair cell stereocilia in a molecular complex with radixin, taperin, and myosin VI. 24285636

2014
Entrez Id: 23312
Gene Symbol: DMXL2
DMXL2
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker CLINGEN Rabconnectin3α promotes stable activity of the H+ pump on synaptic vesicles in hair cells. 22875945

2012
Entrez Id: 23312
Gene Symbol: DMXL2
DMXL2
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker CLINGEN A dominant variant in DMXL2 is linked to nonsyndromic hearing loss. 27657680

2017
Entrez Id: 2059
Gene Symbol: EPS8
EPS8
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker CLINGEN Regulation of stereocilia length by myosin XVa and whirlin depends on the actin-regulatory protein Eps8. 21236676

2011
Entrez Id: 2059
Gene Symbol: EPS8
EPS8
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker CLINGEN Eps8 regulates hair bundle length and functional maturation of mammalian auditory hair cells. 21526224

2011
Entrez Id: 2059
Gene Symbol: EPS8
EPS8
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker CLINGEN Distinct roles of Eps8 in the maturation of cochlear and vestibular hair cells. 27132230

2016
Entrez Id: 2059
Gene Symbol: EPS8
EPS8
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker CLINGEN EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness. 24741995

2014
Entrez Id: 2059
Gene Symbol: EPS8
EPS8
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker CLINGEN Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. 27344577

2016
Entrez Id: 2059
Gene Symbol: EPS8
EPS8
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker CLINGEN Alternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell Stereocilia. 27117407

2016
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.400 Biomarker CLINGEN Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss. 15241677

2004
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.400 Biomarker CLINGEN Connexin-26 mutations in sporadic and inherited sensorineural deafness. 9482292

1998
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.400 Biomarker CLINGEN Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. 9139825

1997
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.400 Biomarker CLINGEN BAAV mediated GJB2 gene transfer restores gap junction coupling in cochlear organotypic cultures from deaf Cx26Sox10Cre mice. 21876744

2011
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.400 Biomarker CLINGEN Hearing loss: frequency and functional studies of the most common connexin26 alleles. 12176036

2002
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.400 Biomarker CLINGEN A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2). 9507396

1998
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.400 Biomarker CLINGEN Perinatal Gjb2 gene transfer rescues hearing in a mouse model of hereditary deafness. 25801282

2015
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.400 Biomarker CLINGEN Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. 9529365

1998
Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.310 Biomarker CLINGEN Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene. 26849169

2018
Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.310 Biomarker CLINGEN Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment. 19028668

2009
Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.310 Biomarker CLINGEN DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System. 27068579

2016
Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.310 Biomarker CLINGEN Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice. 24334608

2014
Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.310 Biomarker CLINGEN Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network. 23055499

2012