Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.400 GeneticVariation disease BEFREE Mutations in the <i>GJB2</i> gene are the main cause for nonsyndromic autosomal recessive deafness 1A (DFNB1A) in many populations. 31195736 2019
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.400 GeneticVariation disease BEFREE Connexin 26 mutations in autosomal recessive deafness disorders: a review. 17365058 2007
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.400 GeneticVariation disease BEFREE Though mutations in the GJB2 gene have been shown to cause autosomal recessive deafness in Indian families, the frequencies of the various mutations are still unknown. 12833397 2003
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.320 GeneticVariation disease BEFREE Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. 11090341 2001
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.320 GeneticVariation disease BEFREE The aim of the present study was to elucidate the role of the non‑syndromic autosomal recessive deafness 12 allelic variant of cadherin 23 (CDH23) in Chinese patients with non‑syndromic hearing loss. 31322239 2019
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		0.320 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7 		0.310 Biomarker disease BEFREE Collectively, our data provide strong evidence that PDZD7 is a new autosomal-recessive deafness-causing gene and also a prime candidate gene for Usher syndrome. 19028668 2009
Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7 		0.310 Biomarker disease CLINGEN Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene. 26849169 2018
Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7 		0.310 Biomarker disease 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 		0.310 Biomarker disease 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 		0.310 Biomarker disease 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 		0.310 Biomarker disease CLINGEN Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network. 23055499 2012
Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7 		0.310 Biomarker disease CLINGEN An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes. 28173822 2017
Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7 		0.310 Biomarker disease CLINGEN PDZD7-MYO7A complex identified in enriched stereocilia membranes. 27525485 2016
Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7 		0.310 Biomarker disease CLINGEN PDZD7 and hearing loss: More than just a modifier. 26416264 2015
Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7 		0.310 Biomarker disease CLINGEN Characterization of transcriptomes of cochlear inner and outer hair cells. 25122905 2014
Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7 		0.310 Biomarker disease CLINGEN Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. 26445815 2015
Entrez Id: 23558
Gene Symbol: WBP2
WBP2 		0.300 Biomarker disease CLINGEN Wbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearing. 26881968 2016
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 Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family. 25919374 2015
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: 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: 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: 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