Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. 11932316 2002
Entrez Id: 4627
Gene Symbol: MYH9
MYH9 		0.490 Biomarker disease GENOMICS_ENGLAND MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation. 22627578 2012
Entrez Id: 117531
Gene Symbol: TMC1
TMC1 		0.440 Biomarker disease GENOMICS_ENGLAND Mechanotransduction in mouse inner ear hair cells requires transmembrane channel-like genes. 22105175 2011
Entrez Id: 8022
Gene Symbol: LHX3
LHX3 		0.430 Biomarker disease GENOMICS_ENGLAND This study therefore extends the phenotypic spectrum associated with LHX3 mutations to encompass variable sensorineural hearing loss and suggests a possible interaction between LHX3 and SOX2 likely to be important for development of both the inner ear and the anterior pituitary in human embryonic development. 18407919 2008
Entrez Id: 6657
Gene Symbol: SOX2
SOX2 		0.410 Biomarker disease GENOMICS_ENGLAND Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)]. 8741917 1996
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		0.400 Biomarker disease GENOMICS_ENGLAND Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. 24697911 2014
Entrez Id: 23312
Gene Symbol: DMXL2
DMXL2 		0.400 Biomarker disease GENOMICS_ENGLAND Rabconnectin3α promotes stable activity of the H+ pump on synaptic vesicles in hair cells. 22875945 2012
Entrez Id: 11342
Gene Symbol: RNF13
RNF13 		0.400 Biomarker disease GENOMICS_ENGLAND Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive. 30595371 2019
Entrez Id: 23312
Gene Symbol: DMXL2
DMXL2 		0.400 Biomarker disease GENOMICS_ENGLAND A dominant variant in DMXL2 is linked to nonsyndromic hearing loss. 27657680 2017
Entrez Id: 23312
Gene Symbol: DMXL2
DMXL2 		0.400 Biomarker disease GENOMICS_ENGLAND Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course. 31688942 2019
Entrez Id: 23312
Gene Symbol: DMXL2
DMXL2 		0.400 Biomarker disease GENOMICS_ENGLAND Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse. 25248098 2014
Entrez Id: 169792
Gene Symbol: GLIS3
GLIS3 		0.300 Biomarker disease GENOMICS_ENGLAND Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. 16715098 2006
Entrez Id: 8665
Gene Symbol: EIF3F
EIF3F 		0.300 Biomarker disease GENOMICS_ENGLAND Quantifying the contribution of recessive coding variation to developmental disorders. 30409806 2018
Entrez Id: 10730
Gene Symbol: YME1L1
YME1L1 		0.300 Biomarker disease GENOMICS_ENGLAND Loss of Mitochondrial AAA Proteases AFG3L2 and YME1L Impairs Mitochondrial Structure and Respiratory Chain Biogenesis. 30544562 2018
Entrez Id: 220074
Gene Symbol: LRTOMT
LRTOMT 		0.300 Biomarker disease GENOMICS_ENGLAND A catechol-O-methyltransferase that is essential for auditory function in mice and humans. 18794526 2008
Entrez Id: 9750
Gene Symbol: RIPOR2
RIPOR2 		0.300 Biomarker disease GENOMICS_ENGLAND Murine Fam65b forms ring-like structures at the base of stereocilia critical for mechanosensory hair cell function. 27269051 2016
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.700 Biomarker disease RGD Long-lasting changes in the cochlear K+ recycling structures after acute energy failure. 23827367 2014
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		0.300 Biomarker disease RGD Long-lasting changes in the cochlear K+ recycling structures after acute energy failure. 23827367 2014
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		0.300 Biomarker disease RGD Genetic background strongly modifies the severity of symptoms of Hirschsprung disease, but not hearing loss in rats carrying Ednrb(sl) mutations. 21915282 2011
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS 		0.210 Biomarker disease RGD Long-lasting changes in the cochlear K+ recycling structures after acute energy failure. 23827367 2014
Entrez Id: 6558
Gene Symbol: SLC12A2
SLC12A2 		0.200 Biomarker disease RGD Long-lasting changes in the cochlear K+ recycling structures after acute energy failure. 23827367 2014
Entrez Id: 481
Gene Symbol: ATP1B1
ATP1B1 		0.200 Biomarker disease RGD Long-lasting changes in the cochlear K+ recycling structures after acute energy failure. 23827367 2014
Entrez Id: 476
Gene Symbol: ATP1A1
ATP1A1 		0.200 Biomarker disease RGD Long-lasting changes in the cochlear K+ recycling structures after acute energy failure. 23827367 2014
Entrez Id: 6648
Gene Symbol: SOD2
SOD2 		0.200 Biomarker disease RGD Time response of carboplatin-induced hearing loss in rat. 15109710 2004
Entrez Id: 847
Gene Symbol: CAT
CAT 		0.200 Biomarker disease RGD Time response of carboplatin-induced hearing loss in rat. 15109710 2004