Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25861
Gene Symbol: WHRN
WHRN
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
0.100 CausalMutation phenotype CLINVAR
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: 64699
Gene Symbol: TMPRSS3
TMPRSS3
0.010 GeneticVariation phenotype LHGDN We identified mutations in TMPRSS3 in four Pakistani families with recessive, nonsyndromic congenital deafness. 15447792 2004
Entrez Id: 117531
Gene Symbol: TMC1
TMC1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6888
Gene Symbol: TALDO1
TALDO1
0.010 Biomarker phenotype LHGDN Transaldolase deficiency in a two-year-old boy with cirrhosis. 18331807 2008
Entrez Id: 84221
Gene Symbol: SPATC1L
SPATC1L
0.300 Biomarker phenotype GENOMICS_ENGLAND Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss. 30177775 2019
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: 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: 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: 286002
Gene Symbol: SLC26A4-AS1
SLC26A4-AS1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 10723
Gene Symbol: SLC12A7
SLC12A7
0.010 Biomarker phenotype LHGDN Similar to some human genetic syndromes(), deafness in Kcc4-deficient mice is associated with renal tubular acidosis. 11976689 2002
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: 345895
Gene Symbol: RSPH4A
RSPH4A
0.300 Biomarker phenotype GENOMICS_ENGLAND
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: 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: 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 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: 5979
Gene Symbol: RET
RET
0.200 Biomarker phenotype RGD Upregulation of glial cell line-derived neurotrophic factor and artemin mRNA in the auditory nerve of deafened rats. 16738479 2006
Entrez Id: 374462
Gene Symbol: PTPRQ
PTPRQ
0.100 CausalMutation phenotype CLINVAR