Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 11078
Gene Symbol: TRIOBP
TRIOBP
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker CLINGEN A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records. 27764096

2016
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: 87178
Gene Symbol: PNPT1
PNPT1
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker CLINGEN A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss. 23084290

2012
Entrez Id: 374462
Gene Symbol: PTPRQ
PTPRQ
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker CLINGEN A receptor-like inositol lipid phosphatase is required for the maturation of developing cochlear hair bundles. 14534255

2003
Entrez Id: 374462
Gene Symbol: PTPRQ
PTPRQ
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker CLINGEN A reduction in Ptprq associated with specific features of the deafness phenotype of the miR-96 mutant mouse diminuendo. 24446963

2014
Entrez Id: 11078
Gene Symbol: TRIOBP
TRIOBP
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker CLINGEN Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing. 20510926

2010
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: 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: 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: 79955
Gene Symbol: PDZD7
PDZD7
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.310 Biomarker CLINGEN An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes. 28173822

2017
Entrez Id: 11078
Gene Symbol: TRIOBP
TRIOBP
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker CLINGEN Autosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP Gene. 27014650

2015
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: 79955
Gene Symbol: PDZD7
PDZD7
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.310 Biomarker CLINGEN Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. 26445815

2015
Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.310 Biomarker CLINGEN Characterization of transcriptomes of cochlear inner and outer hair cells. 25122905

2014
Entrez Id: 374462
Gene Symbol: PTPRQ
PTPRQ
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: 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: 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: 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 Connexin-26 mutations in sporadic and inherited sensorineural deafness. 9482292

1998
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: 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: 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: 374462
Gene Symbol: PTPRQ
PTPRQ
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker CLINGEN Dynamic compartmentalization of protein tyrosine phosphatase receptor Q at the proximal end of stereocilia: implication of myosin VI-based transport. 18412156

2008
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