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 Biomarker disease CLINGEN Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss. 15241677 2004
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.400 Biomarker disease CLINGEN Connexin-26 mutations in sporadic and inherited sensorineural deafness. 9482292 1998
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.400 Biomarker disease CLINGEN Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. 9139825 1997
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.400 Biomarker disease 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 		0.400 Biomarker disease CLINGEN Hearing loss: frequency and functional studies of the most common connexin26 alleles. 12176036 2002
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.400 Biomarker disease 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 		0.400 Biomarker disease CLINGEN Perinatal Gjb2 gene transfer rescues hearing in a mouse model of hereditary deafness. 25801282 2015
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.400 Biomarker disease 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 		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