General Information of Disease (ID: DISKCLH4)

Disease Name Deafness
Synonyms hearing impairment; deafness; hypoacusis; loss, hearing; hearing loss; hypoacuses; loss of hearing
Disease Class AB52: Deafness
Definition A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central.
Disease Hierarchy
DIS4UTK4: Hearing disorder
DISKCLH4: Deafness
ICD Code
ICD-11
ICD-11: AB52
Expand ICD-11
'AB52
Disease Identifiers
MONDO ID
MONDO_0005365
MESH ID
D034381
UMLS CUI
C1384666
MedGen ID
235586
HPO ID
HP:0000365
SNOMED CT ID
103276001

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 2 Clinical Trial Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
CGF166 DML46SK Phase 1/2 Gene therapy [1]
UshStat DMI0H3B Phase 1/2 NA [2]
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This Disease is Treated as An Indication in 2 Investigative Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
AF-243 DMOST17 Investigative Small molecular drug [3]
SPI-5557 DMNGWGJ Investigative NA [3]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 47 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GRM7 TT0I76D Limited Genetic Variation [4]
BCL2L1 TTRE6AX moderate Therapeutic [5]
CACNA2D2 TTU8P3M moderate Biomarker [6]
DIABLO TTN74LE moderate Biomarker [7]
FABP2 TTS4YLO moderate Genetic Variation [8]
KCNQ4 TT8HGRW moderate Genetic Variation [9]
NTF3 TTZHKV9 moderate Therapeutic [10]
OPA1 TTTU49Q moderate Genetic Variation [11]
SOD1 TTP9K3Q moderate Therapeutic [12]
STAT1 TTN7R6K moderate Biomarker [13]
TLR4 TTISGCA moderate Biomarker [14]
ACTG1 TTGAZF9 Strong Genetic Variation [15]
ADCY1 TTV1ZSQ Strong Genetic Variation [16]
APOE TTKS9CB Strong Genetic Variation [17]
ARL2 TTIDSFT Strong Genetic Variation [18]
ATXN3 TT6A17J Strong Genetic Variation [19]
BACE1 TTJUNZF Strong Biomarker [20]
CDK8 TTBJR4L Strong Biomarker [21]
DNMT1 TT6S2FE Strong Biomarker [22]
ESRRB TTKF0XS Strong Genetic Variation [23]
F11 TTDM4ZU Strong Biomarker [24]
FANCA TTV5HJS Strong Biomarker [25]
FGFR3 TTST7KB Strong Genetic Variation [26]
GJB3 TTVRQ8L Strong Genetic Variation [27]
GJC3 TTUW608 Strong Biomarker [28]
GUSB TTHS7CM Strong Genetic Variation [29]
HEXA TTJI5JW Strong CausalMutation [30]
HSD17B4 TTL1WGS Strong Biomarker [31]
KCNJ10 TTG140O Strong Biomarker [32]
KCNQ1 TT846HF Strong CausalMutation [33]
KLKB1 TTN0PCX Strong Biomarker [34]
NT5E TTK0O6Y Strong Biomarker [35]
PDE5A TTJ0IQB Strong Therapeutic [36]
PDE9A TTZOEBC Strong Genetic Variation [37]
PRKCG TTRFOXJ Strong Genetic Variation [38]
RPGR TTHBDA9 Strong Biomarker [39]
RSPO1 TTI9HL4 Strong Genetic Variation [40]
S1PR2 TTVSMOH Strong Genetic Variation [41]
SLC26A4 TT7X02I Strong Biomarker [42]
SLC33A1 TTL69WB Strong Biomarker [43]
SLC6A11 TT8RXO5 Strong Biomarker [44]
UCP2 TTSC2YM Strong Biomarker [45]
UCP3 TT12RJK Strong Biomarker [45]
USH2A TTVCLLA Strong Genetic Variation [46]
GJB1 TTSJIRP Definitive Biomarker [47]
GJB4 TTBRDFI Definitive Genetic Variation [48]
TFAP2A TTDY4BS Definitive Genetic Variation [49]
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⏷ Show the Full List of 47 DTT(s)
This Disease Is Related to 6 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC17A8 DTAGDH7 Strong Biomarker [50]
SLC26A3 DTN1FMD Strong Biomarker [51]
SLC26A5 DTPGHJ7 Strong Biomarker [7]
SLC29A3 DTZAWTH Strong Biomarker [52]
SLC6A13 DTX8KP0 Strong Biomarker [44]
SLC26A2 DTFSLX5 Definitive Biomarker [53]
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⏷ Show the Full List of 6 DTP(s)
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
MANBA DEMH6UB moderate Genetic Variation [54]
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This Disease Is Related to 110 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CD226 OT4UG0KB Limited Genetic Variation [55]
CRYM OTRGSR6B Limited Altered Expression [56]
DCAF17 OTFNVJLN Limited CausalMutation [57]
ESPN OT7Z6LX2 Limited Genetic Variation [58]
FOXI1 OT2UFOE2 Limited Autosomal recessive [59]
LHFPL5 OTNDTO5B Limited Genetic Variation [60]
LMX1A OTEEYD5L Limited Biomarker [61]
MN1 OTVQR4R9 Limited Biomarker [62]
SH3PXD2B OTAOMCDJ Limited Genetic Variation [63]
SPATC1L OTED6WB8 Limited Autosomal dominant [64]
TJP2 OTQUY6BV Limited Biomarker [65]
CABP2 OTOD9DW9 moderate Genetic Variation [66]
OTOG OT5U4SVN moderate Genetic Variation [67]
SH2D6 OTT8DXKS moderate Biomarker [68]
ABHD12 OTDP4F02 Strong Biomarker [69]
ACSM3 OT0AE1IV Strong Biomarker [70]
ADGRV1 OTLVXHHP Strong Genetic Variation [46]
ARC OTN2QQPG Strong Biomarker [71]
ATP2B2 OT1NPZ9T Strong Genetic Variation [72]
ATP6V1B1 OT8FQ7MN Strong Biomarker [73]
BSND OTYWZWPD Strong Biomarker [74]
CCDC50 OTSE1YM5 Strong Biomarker [75]
CD164 OTZ7FIU8 Strong Biomarker [76]
CD5L OTPY4WQR Strong Biomarker [22]
CDH23 OTOJGQ7S Strong Genetic Variation [46]
CEACAM16 OTUMUSY0 Strong Biomarker [77]
CHCHD10 OTCDHAM6 Strong Genetic Variation [78]
CHD7 OTHNIZWZ Strong Biomarker [79]
CIB2 OT9ZJX1I Strong Genetic Variation [46]
CKB OTUCKOTT Strong Biomarker [80]
CLDN14 OTS7GKOI Strong Biomarker [81]
CLRN1 OT1ADI7Q Strong Genetic Variation [46]
COL11A2 OT3BQUBH Strong Genetic Variation [82]
COL4A5 OTHG60RE Strong Biomarker [83]
COL9A3 OTCUJOEK Strong Genetic Variation [84]
COX1 OTG3O9BN Strong Genetic Variation [85]
DIAPH1 OTZBYPLH Strong Biomarker [86]
DSPP OT1TYNDN Strong Biomarker [87]
DTD1 OT63V2KK Strong Genetic Variation [37]
EHD1 OTDMEKLV Strong Biomarker [88]
EHD2 OTTX391J Strong Altered Expression [88]
EHD3 OTOKC2G5 Strong Altered Expression [88]
EHD4 OT7G5JTT Strong Biomarker [88]
EHF OTY6TPWD Strong Biomarker [89]
ELMOD3 OTLBB4DJ Strong Biomarker [68]
ERCC6 OT2QZKSF Strong Biomarker [90]
EYA1 OTHU807A Strong Biomarker [91]
EYA4 OTINGR3Z Strong Genetic Variation [92]
FANCC OTTIDM3P Strong Biomarker [25]
FANCG OT7MC8TZ Strong Biomarker [25]
FGF3 OT9PK2SI Strong Biomarker [93]
FLNC OT3F8J6Y Strong Genetic Variation [94]
GIPC1 OTXLVCPJ Strong Biomarker [95]
GIPC3 OT8U28XD Strong Biomarker [96]
GRXCR1 OTPLNL6U Strong Biomarker [97]
ILDR1 OTQK8XLK Strong Biomarker [98]
KCNE1 OTZNQUW9 Strong Biomarker [99]
LRTOMT OTMLESUJ Strong Genetic Variation [100]
LY6E OTMG16BZ Strong Genetic Variation [19]
MARVELD2 OTKB96L5 Strong Genetic Variation [101]
MSRB3 OT4UZXMN Strong Biomarker [102]
MTO1 OT7HCZ1D Strong Altered Expression [103]
MYH14 OT1TZEJK Strong Genetic Variation [104]
MYH6 OT3YNCH1 Strong Biomarker [95]
MYH9 OT94Z706 Strong Genetic Variation [54]
MYO15A OTVR4DV8 Strong Genetic Variation [105]
MYO3A OTPM8PHS Strong Genetic Variation [106]
MYO6 OTJQYRC7 Strong Genetic Variation [107]
MYO7A OTBZSPEL Strong Genetic Variation [46]
ND4 OT4RQVAA Strong Genetic Variation [108]
OTOA OTBTEFIE Strong Biomarker [109]
OTOF OTXQMJY8 Strong Biomarker [110]
PCDH15 OTU9C2EH Strong Genetic Variation [46]
PDZD7 OTX3VAOB Strong Genetic Variation [46]
PJVK OT9S47XC Strong Genetic Variation [111]
PLS1 OTWURB8U Strong Genetic Variation [54]
PNPT1 OTBR2Q0F Strong Biomarker [112]
POMGNT1 OTBNOUZC Strong Genetic Variation [113]
POU3F4 OTKF5AF7 Strong Biomarker [114]
PRPS1 OTN3A6CN Strong Genetic Variation [115]
PTCRA OTQTO5QZ Strong Biomarker [24]
RDX OTNSYUN6 Strong Genetic Variation [116]
ROM1 OTE7H0YV Strong Biomarker [117]
SALL4 OTC08PR5 Strong Genetic Variation [118]
SERPINB6 OT7G55IK Strong Biomarker [119]
SKP1 OT5BPAZ4 Strong Genetic Variation [120]
SLC26A11 OTWBV9CR Strong Genetic Variation [121]
SMPX OTLSHGBF Strong Genetic Variation [122]
SNAP91 OTE3EXWZ Strong Genetic Variation [123]
STAG2 OTR6X1Q7 Strong Biomarker [124]
STRC OT3JQYVJ Strong Genetic Variation [125]
TBC1D24 OTKZUSMD Strong Genetic Variation [126]
TECTA OT5E0NE2 Strong Genetic Variation [127]
TIMM8A OTDX9687 Strong Genetic Variation [103]
TMPRSS3 OT0GTO1Z Strong Biomarker [128]
TPRN OTNWY6HP Strong Biomarker [129]
TRAPPC4 OT3THRCA Strong Biomarker [130]
TRIOBP OTGB5WHC Strong Genetic Variation [131]
TSPEAR OT2LKDD0 Strong Biomarker [132]
ANKH OTCN25R5 Definitive Genetic Variation [133]
ATP6 OTPHOGLX Definitive Genetic Variation [134]
CDC14A OTL10OY6 Definitive Genetic Variation [23]
COL4A4 OT9G0MCT Definitive Genetic Variation [135]
IQGAP2 OTX2UA7P Definitive Genetic Variation [136]
MPZ OTAR2YXH Definitive Biomarker [137]
PAX3 OTN5PJZV Definitive Biomarker [138]
PMP22 OTXWYWCZ Definitive Genetic Variation [139]
RMND1 OT7I6RBT Definitive Genetic Variation [140]
SOX10 OTF25ULQ Definitive Genetic Variation [141]
THG1L OTUK054V Definitive Biomarker [142]
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⏷ Show the Full List of 110 DOT(s)

References

1 ClinicalTrials.gov (NCT02132130) Safety, Tolerability and Efficacy for CGF166 in Patients With Unilateral or Bilateral Severe-to-profound Hearing Loss. U.S. National Institutes of Health.
2 ClinicalTrials.gov (NCT02065011) A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of UshStat in Patients With Usher Syndrome Type 1B. U.S. National Institutes of Health.
3 The ChEMBL database in 2017. Nucleic Acids Res. 2017 Jan 4;45(D1):D945-D954.
4 Association of GRM7 variants with different phenotype patterns of age-related hearing impairment in an elderly male Han Chinese population.PLoS One. 2013 Oct 11;8(10):e77153. doi: 10.1371/journal.pone.0077153. eCollection 2013.
5 Adeno-associated virus-mediated Bcl-xL prevents aminoglycoside-induced hearing loss in mice.Chin Med J (Engl). 2007 Jul 20;120(14):1236-40.
6 22 Controls the Function and Trans-Synaptic Coupling of Cav1.3 Channels in Mouse Inner Hair Cells and Is Essential for Normal Hearing.J Neurosci. 2016 Oct 26;36(43):11024-11036. doi: 10.1523/JNEUROSCI.3468-14.2016.
7 Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.Hum Genet. 2016 Apr;135(4):441-450. doi: 10.1007/s00439-016-1648-8. Epub 2016 Mar 11.
8 The Ala54Thr polymorphism in the fatty acid-binding protein 2 (FABP2) gene is associated with hearing impairment: a preliminary report.Auris Nasus Larynx. 2010 Aug;37(4):496-9. doi: 10.1016/j.anl.2010.01.006. Epub 2010 Mar 3.
9 Absence of KCNQ4 mutation in Bengali families with ADNSHL originated from West Bengal, India.Int J Pediatr Otorhinolaryngol. 2017 Sep;100:35-38. doi: 10.1016/j.ijporl.2017.06.004. Epub 2017 Jun 15.
10 [Protective effect of adeno-associated virus-mediated neurotrophin-3 on the cochlea of guinea pigs with gentamicin-induced hearing loss].Nan Fang Yi Ke Da Xue Xue Bao. 2007 Nov;27(11):1642-5.
11 Stroke-like episodes in OPA1 carriers require comprehensive work-up and therapeutic considerations.Metab Brain Dis. 2020 Feb;35(2):253-254. doi: 10.1007/s11011-019-00523-z. Epub 2019 Nov 28.
12 Overexpression of copper/zinc-superoxide dismutase protects from kanamycin-induced hearing loss.Audiol Neurootol. 2001 May-Jun;6(3):117-23. doi: 10.1159/000046818.
13 NOX3 NADPH oxidase couples transient receptor potential vanilloid 1 to signal transducer and activator of transcription 1-mediated inflammation and hearing loss.Antioxid Redox Signal. 2011 Mar 15;14(6):999-1010. doi: 10.1089/ars.2010.3497. Epub 2010 Dec 7.
14 Activation of lipopolysaccharide-TLR4 signaling accelerates the ototoxic potential of cisplatin in mice.J Immunol. 2011 Jan 15;186(2):1140-50. doi: 10.4049/jimmunol.1002183. Epub 2010 Dec 8.
15 In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.Hum Mol Genet. 2009 Aug 15;18(16):3075-89. doi: 10.1093/hmg/ddp249. Epub 2009 May 28.
16 Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. Hum Mol Genet. 2014 Jun 15;23(12):3289-98. doi: 10.1093/hmg/ddu042. Epub 2014 Jan 29.
17 Age-related Hearing Loss Is Strongly Associated With Cognitive Decline Regardless of the APOE4 Polymorphism.Otol Neurotol. 2019 Dec;40(10):1263-1267. doi: 10.1097/MAO.0000000000002415.
18 An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans. PLoS Genet. 2013;9(9):e1003774. doi: 10.1371/journal.pgen.1003774. Epub 2013 Sep 5.
19 FGF21 in ataxia patients with spinocerebellar atrophy and mitochondrial disease.Clin Chim Acta. 2012 Dec 24;414:225-7. doi: 10.1016/j.cca.2012.09.019. Epub 2012 Sep 29.
20 -Secretase BACE1 Is Required for Normal Cochlear Function.J Neurosci. 2019 Nov 6;39(45):9013-9027. doi: 10.1523/JNEUROSCI.0028-19.2019. Epub 2019 Sep 16.
21 De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. Am J Hum Genet. 2019 Apr 4;104(4):709-720. doi: 10.1016/j.ajhg.2019.02.006. Epub 2019 Mar 21.
22 Evidence for an Association Between Hearing Impairment and Disrupted Sleep: Scoping Review.Am J Audiol. 2019 Dec 16;28(4):1015-1024. doi: 10.1044/2019_AJA-19-0026. Epub 2019 Oct 17.
23 Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay.BMC Med Genet. 2014 Jul 15;15:81. doi: 10.1186/1471-2350-15-81.
24 The impact of permanent early-onset unilateral hearing impairment in children - A systematic review.Int J Pediatr Otorhinolaryngol. 2019 May;120:173-183. doi: 10.1016/j.ijporl.2019.02.029. Epub 2019 Feb 19.
25 Molecular pathogenesis of Fanconi anemia: recent progress.Blood. 2006 Jun 1;107(11):4223-33. doi: 10.1182/blood-2005-10-4240. Epub 2006 Feb 21.
26 CATCHing putative causative variants in consanguineous families.BMC Bioinformatics. 2015 Sep 28;16:310. doi: 10.1186/s12859-015-0727-5.
27 The relationship between the GJB3 c.538C>T variant and hearing phenotype in the Chinese population.Int J Pediatr Otorhinolaryngol. 2017 Nov;102:67-70. doi: 10.1016/j.ijporl.2017.09.001. Epub 2017 Sep 7.
28 Government-funded universal newborn hearing screening and genetic analyses of deafness predisposing genes in Taiwan.Int J Pediatr Otorhinolaryngol. 2015 Apr;79(4):584-90. doi: 10.1016/j.ijporl.2015.01.033. Epub 2015 Feb 7.
29 Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses.Ital J Pediatr. 2018 Nov 16;44(Suppl 2):121. doi: 10.1186/s13052-018-0561-2.
30 Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.Mol Genet Metab Rep. 2014 Sep 29;1:425-430. doi: 10.1016/j.ymgmr.2014.09.004. eCollection 2014.
31 Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis.Am J Hum Genet. 1999 Jan;64(1):99-107. doi: 10.1086/302180.
32 Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China.Am J Med Genet A. 2013 Sep;161A(9):2226-33. doi: 10.1002/ajmg.a.36068. Epub 2013 Aug 5.
33 A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.BMC Med Genet. 2017 Jun 8;18(1):66. doi: 10.1186/s12881-017-0430-7.
34 trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation.J Cell Sci. 2001 Jun;114(Pt 11):2105-13. doi: 10.1242/jcs.114.11.2105.
35 Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction.J Neurol Sci. 2015 Feb 15;349(1-2):154-60. doi: 10.1016/j.jns.2015.01.008. Epub 2015 Jan 13.
36 cGMP-Prkg1 signaling and Pde5 inhibition shelter cochlear hair cells and hearing function.Nat Med. 2012 Jan 22;18(2):252-9. doi: 10.1038/nm.2634.
37 GRM7 variants confer susceptibility to age-related hearing impairment.Hum Mol Genet. 2009 Feb 15;18(4):785-96. doi: 10.1093/hmg/ddn402. Epub 2008 Dec 1.
38 Spinocerebellar ataxia type 14 caused by a nonsense mutation in the PRKCG gene.Mol Cell Neurosci. 2019 Jul;98:46-53. doi: 10.1016/j.mcn.2019.05.005. Epub 2019 May 31.
39 RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections. J Med Genet. 2003 Aug;40(8):609-15. doi: 10.1136/jmg.40.8.609.
40 Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation.Hum Mutat. 2008 Feb;29(2):220-6. doi: 10.1002/humu.20665.
41 Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. Am J Hum Genet. 2016 Feb 4;98(2):331-8. doi: 10.1016/j.ajhg.2015.12.004. Epub 2016 Jan 21.
42 Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.Int J Mol Sci. 2018 Jan 10;19(1):209. doi: 10.3390/ijms19010209.
43 Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. Am J Hum Genet. 2012 Jan 13;90(1):61-8. doi: 10.1016/j.ajhg.2011.11.030.
44 Cisplatin Toxicology: The Role of Pro-inflammatory Cytokines and GABA Transporters in Cochlear Spiral Ganglion.Curr Pharm Des. 2019;25(45):4820-4826. doi: 10.2174/1381612825666191106143743.
45 A long-term high-fat diet increases oxidative stress, mitochondrial damage and apoptosis in the inner ear of D-galactose-induced aging rats.Hear Res. 2012 May;287(1-2):15-24. doi: 10.1016/j.heares.2012.04.012. Epub 2012 Apr 21.
46 Genetics of Usher Syndrome: New Insights From a Meta-analysis.Otol Neurotol. 2019 Jan;40(1):121-129. doi: 10.1097/MAO.0000000000002054.
47 Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.Hum Mutat. 2000 Sep;16(3):190-202. doi: 10.1002/1098-1004(200009)16:3<190::AID-HUMU2>3.0.CO;2-I.
48 A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families.Hum Mutat. 2002 Apr;19(4):458. doi: 10.1002/humu.9023.
49 Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene.Ann Otol Rhinol Laryngol. 2010 Dec;119(12):806-14. doi: 10.1177/000348941011901204.
50 Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.Am J Hum Genet. 2018 Oct 4;103(4):484-497. doi: 10.1016/j.ajhg.2018.08.006. Epub 2018 Sep 20.
51 Pathogenetics of the human SLC26 transporters.Curr Med Chem. 2005;12(4):385-96. doi: 10.2174/0929867053363144.
52 Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.PLoS Genet. 2010 Feb 5;6(2):e1000833. doi: 10.1371/journal.pgen.1000833.
53 Solute Carrier Family 26 Member a2 (slc26a2) Regulates Otic Development and Hair Cell Survival in Zebrafish.PLoS One. 2015 Sep 16;10(9):e0136832. doi: 10.1371/journal.pone.0136832. eCollection 2015.
54 Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma. Eur J Hum Genet. 2019 Jun;27(6):869-878. doi: 10.1038/s41431-019-0372-y. Epub 2019 Mar 14.
55 Clinical aspects of an autosomal dominantly inherited hearing impairment linked to the DFNA60 locus on chromosome 2q23.1-2q23.3.Hear Res. 2013 Jun;300:10-7. doi: 10.1016/j.heares.2013.03.007. Epub 2013 Mar 26.
56 Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues. Am J Hum Genet. 2003 Jan;72(1):73-82. doi: 10.1086/345398. Epub 2002 Dec 6.
57 Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.Clin Genet. 2016 Sep;90(3):263-9. doi: 10.1111/cge.12700. Epub 2016 Jan 19.
58 A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.Am J Med Genet A. 2008 Dec 1;146A(23):3086-9. doi: 10.1002/ajmg.a.32525.
59 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
60 Novel Mutations in KCNQ4, LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment.Arch Iran Med. 2019 Apr 1;22(4):189-197.
61 A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment.Hum Genet. 2018 Jul;137(6-7):471-478. doi: 10.1007/s00439-018-1899-7. Epub 2018 Jul 3.
62 Targeted disruption of the Mn1 oncogene results in severe defects in development of membranous bones of the cranial skeleton.Mol Cell Biol. 2005 May;25(10):4229-36. doi: 10.1128/MCB.25.10.4229-4236.2005.
63 Sh3pxd2b mice are a model for craniofacial dysmorphology and otitis media.PLoS One. 2011;6(7):e22622. doi: 10.1371/journal.pone.0022622. Epub 2011 Jul 27.
64 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
65 Genetic analysis of genes related to tight junction function in the Korean population with non-syndromic hearing loss.PLoS One. 2014 Apr 21;9(4):e95646. doi: 10.1371/journal.pone.0095646. eCollection 2014.
66 A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment. Am J Hum Genet. 2012 Oct 5;91(4):636-45. doi: 10.1016/j.ajhg.2012.08.018. Epub 2012 Sep 13.
67 Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment. Am J Hum Genet. 2012 Nov 2;91(5):883-9. doi: 10.1016/j.ajhg.2012.09.012.
68 Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology.J Appl Genet. 2019 Feb;60(1):49-56. doi: 10.1007/s13353-018-0472-3. Epub 2018 Oct 4.
69 Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.Ophthalmology. 2014 Aug;121(8):1620-7. doi: 10.1016/j.ophtha.2014.02.008. Epub 2014 Mar 31.
70 Subjective hearing impairment after subarachnoid haemorrhage: Prevalence and risk factors.J Neurol Sci. 2017 Jan 15;372:184-186. doi: 10.1016/j.jns.2016.11.062. Epub 2016 Nov 24.
71 Midazolam reverses salicylate-induced changes in brain-derived neurotrophic factor and arg3.1 expression: implications for tinnitus perception and auditory plasticity.Mol Pharmacol. 2008 Sep;74(3):595-604. doi: 10.1124/mol.108.046375. Epub 2008 Jun 4.
72 De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment. Hum Genet. 2019 Jan;138(1):61-72. doi: 10.1007/s00439-018-1965-1. Epub 2018 Dec 8.
73 Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet. 1999 Jan;21(1):84-90. doi: 10.1038/5022.
74 Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p.Am J Hum Genet. 1998 Feb;62(2):355-61. doi: 10.1086/301708.
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