Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11078
Gene Symbol: TRIOBP
TRIOBP 		0.300 Biomarker disease CLINGEN Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations. 24853665 2015
Entrez Id: 11078
Gene Symbol: TRIOBP
TRIOBP 		0.300 Biomarker disease CLINGEN Autosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP Gene. 27014650 2015
Entrez Id: 124842
Gene Symbol: TMEM132E
TMEM132E 		0.300 Biomarker disease CLINGEN Whole-exome sequencing identifies a variant in TMEM132E causing autosomal-recessive nonsyndromic hearing loss DFNB99. 25331638 2015
Entrez Id: 53405
Gene Symbol: CLIC5
CLIC5 		0.300 Biomarker disease CLINGEN Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5. 24781754 2015
Entrez Id: 374462
Gene Symbol: PTPRQ
PTPRQ 		0.300 Biomarker disease 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: 374462
Gene Symbol: PTPRQ
PTPRQ 		0.300 Biomarker disease 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 		0.300 Biomarker disease 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: 107
Gene Symbol: ADCY1
ADCY1 		0.300 Biomarker disease 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 		0.300 Biomarker disease 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 		0.300 Biomarker disease CLINGEN Rabconnectin3α promotes stable activity of the H+ pump on synaptic vesicles in hair cells. 22875945 2012
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1 		0.300 Biomarker disease CLINGEN A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss. 23084290 2012
Entrez Id: 11078
Gene Symbol: TRIOBP
TRIOBP 		0.300 Biomarker disease CLINGEN Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. 23226338 2012
Entrez Id: 374462
Gene Symbol: PTPRQ
PTPRQ 		0.300 Biomarker disease 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: 2059
Gene Symbol: EPS8
EPS8 		0.300 Biomarker disease 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 		0.300 Biomarker disease CLINGEN Eps8 regulates hair bundle length and functional maturation of mammalian auditory hair cells. 21526224 2011
Entrez Id: 374462
Gene Symbol: PTPRQ
PTPRQ 		0.300 Biomarker disease CLINGEN Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. 20346435 2010
Entrez Id: 374462
Gene Symbol: PTPRQ
PTPRQ 		0.300 Biomarker disease CLINGEN Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84. 20472657 2010
Entrez Id: 11078
Gene Symbol: TRIOBP
TRIOBP 		0.300 Biomarker disease CLINGEN Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing. 20510926 2010
Entrez Id: 374462
Gene Symbol: PTPRQ
PTPRQ 		0.300 Biomarker disease 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 		0.300 Biomarker disease CLINGEN Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness. 16385457 2006
Entrez Id: 11078
Gene Symbol: TRIOBP
TRIOBP 		0.300 Biomarker disease 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 		0.300 Biomarker disease 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 		0.300 Biomarker disease CLINGEN A receptor-like inositol lipid phosphatase is required for the maturation of developing cochlear hair bundles. 14534255 2003
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1 		0.200 Biomarker disease MGD Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts. 28934385 2017
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		0.140 CausalMutation disease CLINVAR Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia). 27082237 2016