Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3775
Gene Symbol: KCNK1
KCNK1 		0.200 Biomarker phenotype RGD TWIK-1 was significantly decreased at 3 weeks and 3 months following deafness and TREK-2 was only significantly decreased at 3 days. 17884299 2007
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		0.400 Biomarker phenotype CTD_human A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9. 17967520 2007
Entrez Id: 2625
Gene Symbol: GATA3
GATA3 		0.040 GeneticVariation phenotype LHGDN A novel heterozygous deletion frameshift mutation of GATA3 in a Japanese kindred with the hypoparathyroidism, deafness and renal dysplasia syndrome. 17114920 2006
Entrez Id: 2625
Gene Symbol: GATA3
GATA3 		0.040 GeneticVariation phenotype LHGDN A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome). 16509533 2006
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		0.040 GeneticVariation phenotype LHGDN A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation. 18204809 2008
Entrez Id: 83715
Gene Symbol: ESPN
ESPN 		0.300 Biomarker phenotype CTD_human A recessive mutation in the espin gene (Espn) has been detected in the jerker mouse and causes deafness, vestibular dysfunction, and hair cell degeneration. 15930085 2006
Entrez Id: 2299
Gene Symbol: FOXI1
FOXI1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Acidosis and Deafness in Patients with Recessive Mutations in FOXI1. 29242249 2018
Entrez Id: 4549
Gene Symbol: RNR1
RNR1 		0.300 Biomarker phenotype CTD_human Aminoglycoside-induced hearing loss in a patient with the 961 mutation in mitochondrial DNA. 12037390 2002
Entrez Id: 5424
Gene Symbol: POLD1
POLD1 		0.300 Biomarker phenotype CTD_human An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. 23770608 2013
Entrez Id: 4286
Gene Symbol: MITF
MITF 		0.300 Biomarker phenotype CTD_human Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). 9158138 1997
Entrez Id: 160335
Gene Symbol: TMTC2
TMTC2 		0.500 Biomarker phenotype CTD_human Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss. 27311106 2016
Entrez Id: 160335
Gene Symbol: TMTC2
TMTC2 		0.500 Biomarker phenotype GENOMICS_ENGLAND Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss. 27311106 2016
Entrez Id: 4549
Gene Symbol: RNR1
RNR1 		0.300 Biomarker phenotype CTD_human Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA gene. 12031626 2002
Entrez Id: 8556
Gene Symbol: CDC14A
CDC14A 		0.300 Biomarker phenotype CTD_human Auditory hair cells of postnatal Cdc14a mutants develop normally, but subsequently degenerate causing deafness. 29293958 2018
Entrez Id: 7809
Gene Symbol: BSND
BSND 		0.020 GeneticVariation phenotype LHGDN Barttin mutations in antenatal Bartter syndrome with sensorineural deafness. 16773427 2006
Entrez Id: 2625
Gene Symbol: GATA3
GATA3 		0.040 GeneticVariation phenotype LHGDN Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. 14985365 2004
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11 		0.010 Biomarker phenotype LHGDN Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13. 11836359 2002
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		0.300 Biomarker phenotype CTD_human Craniofacial-deafness-hand syndrome revisited. 14556253 2003
Entrez Id: 3777
Gene Symbol: KCNK3
KCNK3 		0.200 Biomarker phenotype RGD Deafness associated changes in two-pore domain potassium channels in the rat inferior colliculus. 17884299 2007
Entrez Id: 627
Gene Symbol: BDNF
BDNF 		0.300 Therapeutic phenotype CTD_human Delayed electrical stimulation and BDNF application following induced deafness in rats. 18607918 2009
Entrez Id: 627
Gene Symbol: BDNF
BDNF 		0.300 Therapeutic phenotype CTD_human Enhanced survival of spiral ganglion cells after cessation of treatment with brain-derived neurotrophic factor in deafened guinea pigs. 19365690 2009
Entrez Id: 4549
Gene Symbol: RNR1
RNR1 		0.300 Biomarker phenotype CTD_human Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder. 9391883 1997
Entrez Id: 4549
Gene Symbol: RNR1
RNR1 		0.300 Biomarker phenotype CTD_human Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss. 15722487 2005
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.450 GeneticVariation phenotype LHGDN Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East. 11935342 2002
Entrez Id: 5357
Gene Symbol: PLS1
PLS1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma. 30872814 2019