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 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 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 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 Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. 9529365

1998
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: 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: 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: 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
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 Dynamic compartmentalization of protein tyrosine phosphatase receptor Q at the proximal end of stereocilia: implication of myosin VI-based transport. 18412156

2008
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: 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: 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: 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
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: 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: 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: 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: 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: 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: 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 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: 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