Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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 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
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.400 Biomarker CLINGEN Hearing loss: frequency and functional studies of the most common connexin26 alleles. 12176036

2002
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: 2706
Gene Symbol: GJB2
GJB2
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.400 Biomarker CLINGEN Perinatal Gjb2 gene transfer rescues hearing in a mouse model of hereditary deafness. 25801282

2015
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.400 Biomarker 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
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: 79955
Gene Symbol: PDZD7
PDZD7
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.310 Biomarker 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
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: 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: 79955
Gene Symbol: PDZD7
PDZD7
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.310 Biomarker 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
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: 79955
Gene Symbol: PDZD7
PDZD7
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.310 Biomarker CLINGEN PDZD7-MYO7A complex identified in enriched stereocilia membranes. 27525485

2016
Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.310 Biomarker CLINGEN PDZD7 and hearing loss: More than just a modifier. 26416264

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: 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: 23558
Gene Symbol: WBP2
WBP2
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker 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
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: 374462
Gene Symbol: PTPRQ
PTPRQ
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker 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
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker 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
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker 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
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
Entrez Id: 11078
Gene Symbol: TRIOBP
TRIOBP
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker CLINGEN Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness. 16385457

2006