Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23761
Gene Symbol: PISD
PISD 		0.300 Biomarker phenotype GENOMICS_ENGLAND PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes. 30858161 2019
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: 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: 345895
Gene Symbol: RSPH4A
RSPH4A 		0.300 Biomarker phenotype GENOMICS_ENGLAND RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. 26073779 2015
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: 84947
Gene Symbol: SERAC1
SERAC1 		0.300 Biomarker phenotype CTD_human Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. 22683713 2012
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		0.300 Biomarker phenotype CTD_human Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. 22158539 2011
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: 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: 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: 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: 4647
Gene Symbol: MYO7A
MYO7A 		0.300 Biomarker phenotype RGD Mutations in human MYO7A result in Usher syndrome type 1B, a severe autosomal inherited recessive disease that involves deafness and vestibular dysfunction. 15965244 2005
Entrez Id: 83715
Gene Symbol: ESPN
ESPN 		0.300 Biomarker phenotype CTD_human The abnormal vestibular phenotype associated with ESPN mutations will be a useful clinical marker for refining the differential diagnosis of non-syndromic deafness. 15286153 2004
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D 		0.300 Biomarker phenotype CTD_human Null mutation of alpha1D Ca2+ channel gene results in deafness but no vestibular defect in mice. 15357422 2004
Entrez Id: 375611
Gene Symbol: SLC26A5
SLC26A5 		0.300 Biomarker phenotype CTD_human We have identified a 5'-UTR splice acceptor mutation (IVS2-2A>G) in exon 3 of the prestin gene, which is responsible for recessive non-syndromic deafness in two unrelated families. 12719379 2003
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		0.300 Biomarker phenotype CTD_human Craniofacial-deafness-hand syndrome revisited. 14556253 2003
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: 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: 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: 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: 4647
Gene Symbol: MYO7A
MYO7A 		0.300 CausalMutation phenotype CLINVAR
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		0.300 Biomarker phenotype GENOMICS_ENGLAND
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: 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: 54207
Gene Symbol: KCNK10
KCNK10 		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