Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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: 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: 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: 124842
Gene Symbol: TMEM132E
TMEM132E
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker CLINGEN Whole-exome sequencing identifies a variant in TMEM132E causing autosomal-recessive nonsyndromic hearing loss DFNB99. 25331638

2015
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: 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 Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. 20346435

2010
Entrez Id: 11078
Gene Symbol: TRIOBP
TRIOBP
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker CLINGEN Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. 23226338

2012
Entrez Id: 374462
Gene Symbol: PTPRQ
PTPRQ
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker CLINGEN Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84. 20472657

2010
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: 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 Dynamic compartmentalization of protein tyrosine phosphatase receptor Q at the proximal end of stereocilia: implication of myosin VI-based transport. 18412156

2008
Entrez Id: 11078
Gene Symbol: TRIOBP
TRIOBP
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker CLINGEN Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss. 16385458

2006
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: 374462
Gene Symbol: PTPRQ
PTPRQ
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker CLINGEN Hair bundle defects and loss of function in the vestibular end organs of mice lacking the receptor-like inositol lipid phosphatase PTPRQ. 22357859

2012
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: 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: 11078
Gene Symbol: TRIOBP
TRIOBP
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: 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 Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing. 20510926

2010