Details of Disease

General Information of Disease (ID: DISJV45Z)

Disease Name Sensorineural hearing loss disorder
Synonyms neurosensory deafness; sensorineural hearing loss disorder; SNHL; sensorineural hearing loss; sensorineural deafness
Definition Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII).
Disease Hierarchy
DISKCLH4: Deafness
DISJV45Z: Sensorineural hearing loss disorder
Disease Identifiers
MONDO ID
MONDO_0020678
MESH ID
D006319
UMLS CUI
C0018784
MedGen ID
9164
HPO ID
HP:0000407
SNOMED CT ID
60700002

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 1 Approved Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Methotrexate DM2TEOL Approved Small molecular drug [1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 37 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
EDNRB TT3ZTGU Limited Biomarker [2]
GJB3 TTVRQ8L Limited Biomarker [3]
KCNJ10 TTG140O Limited Biomarker [4]
GLRX TTRJCNG moderate Genetic Variation [5]
GRM7 TT0I76D moderate Genetic Variation [6]
IKZF2 TTKT5NV moderate Genetic Variation [7]
KCNQ1 TT846HF moderate Biomarker [8]
KCNQ4 TT8HGRW moderate Biomarker [3]
LRP2 TTPH1AJ moderate Genetic Variation [9]
MLANA TT362RB moderate Biomarker [10]
OGDH TTH8T6I moderate Altered Expression [11]
OPA1 TTTU49Q moderate Genetic Variation [12]
TFAP2A TTDY4BS moderate Genetic Variation [13]
TUBB2A TTJ2PTI moderate Biomarker [14]
ATP1A1 TTWK8D0 Strong Biomarker [4]
CEP250 TTPOA6U Strong Genetic Variation [15]
CLCNKB TTR68GQ Strong Genetic Variation [16]
DNMT1 TT6S2FE Strong Genetic Variation [17]
F11 TTDM4ZU Strong Genetic Variation [18]
FGFR3 TTST7KB Strong Biomarker [19]
GATA3 TT45KOB Strong Genetic Variation [20]
GJB1 TTSJIRP Strong Biomarker [21]
GRHL2 TTUGH4C Strong Genetic Variation [22]
HAAO TTWON83 Strong CausalMutation [23]
MYH2 TTBIL13 Strong Genetic Variation [24]
NLRP3 TT4EN8X Strong Genetic Variation [25]
PRKCB TTYPXQF Strong CausalMutation [26]
RAF1 TTAN5W2 Strong Genetic Variation [27]
RPE65 TTBOH16 Strong Biomarker [28]
SLC26A4 TT7X02I Strong Genetic Variation [29]
SLC52A2 TT6TKEN Strong Genetic Variation [30]
SLITRK6 TTTVEKI Strong Altered Expression [31]
SOX2 TTCNOT6 Strong Genetic Variation [32]
THRB TTGER3L Strong Genetic Variation [33]
TRPV4 TTKP2SU Strong Biomarker [34]
USH2A TTVCLLA Strong Genetic Variation [20]
XPA TTGT87E Strong Biomarker [35]
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⏷ Show the Full List of 37 DTT(s)
This Disease Is Related to 6 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
ABCD1 DTKM9DZ Limited Biomarker [36]
SLC17A8 DTAGDH7 moderate Genetic Variation [37]
SLC12A2 DTHKL3Q Strong Biomarker [4]
SLC4A11 DTH2J1G Strong Biomarker [38]
SLC52A3 DTBVQIO Strong Biomarker [39]
SLC7A8 DTJF3DX Strong Biomarker [40]
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⏷ Show the Full List of 6 DTP(s)
This Disease Is Related to 5 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
LARS2 DEP7BTH moderate Genetic Variation [41]
AK2 DEY1FJO Strong Biomarker [42]
MARS2 DEEH5Y9 Strong Genetic Variation [43]
PTGDS DER3H9C Strong Biomarker [4]
TGM5 DEW8QEH Strong Genetic Variation [44]
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This Disease Is Related to 125 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BCAP31 OTKSACR4 Limited Genetic Variation [45]
CDH23 OTOJGQ7S Limited Genetic Variation [46]
CDKL5 OTGL5HRV Limited Genetic Variation [47]
COL4A5 OTHG60RE Limited Biomarker [20]
FADD OTV7GFHH Limited Biomarker [48]
FGF3 OT9PK2SI Limited Biomarker [48]
GPSM2 OT6RPMRM Limited Genetic Variation [49]
GSDME OT1ZWY32 Limited Biomarker [50]
KARS1 OT0EU4SV Limited Genetic Variation [51]
MPZL2 OTKFNDUI Limited Biomarker [52]
PMP22 OTXWYWCZ Limited Altered Expression [53]
TFAP2B OTR1T8E9 Limited Genetic Variation [54]
THOC1 OTVABJ4Z Limited Autosomal dominant [55]
TMPRSS3 OT0GTO1Z Limited Posttranslational Modification [56]
AQP2 OTQLBKK6 moderate Genetic Variation [57]
ATP2B2 OT1NPZ9T moderate Biomarker [58]
CHRDL1 OTGMWVVA moderate Genetic Variation [59]
COG4 OT6U94UE moderate Genetic Variation [60]
COL2A1 OT5E59C8 moderate Altered Expression [61]
COL4A4 OT9G0MCT moderate Biomarker [62]
DESI1 OTFNIW98 moderate Biomarker [63]
EHF OTY6TPWD moderate Genetic Variation [64]
FKBP14 OT55W5WC moderate Genetic Variation [65]
FOXF2 OTV20NGX moderate Biomarker [66]
GRAP OTO1P7YX moderate Genetic Variation [67]
GRXCR1 OTPLNL6U moderate Genetic Variation [5]
IMMT OTBDSLE7 moderate Biomarker [68]
KCNE1 OTZNQUW9 moderate Genetic Variation [69]
KLHDC8B OTKP6LCR moderate Genetic Variation [59]
MYO3A OTPM8PHS moderate Genetic Variation [70]
NEUROG1 OTMJZP9G moderate Biomarker [71]
NFATC4 OTTDCUAO moderate Biomarker [72]
NPL OTA7P0TO moderate Biomarker [73]
PCARE OTUSRSB5 moderate Genetic Variation [74]
POU3F4 OTKF5AF7 moderate Genetic Variation [20]
POU4F3 OTILD0XS moderate Biomarker [75]
RDX OTNSYUN6 moderate Genetic Variation [20]
RIPOR2 OTXB6LIR moderate Biomarker [76]
RNF13 OT7HNYF4 moderate Biomarker [77]
SERGEF OT2AX2QL moderate Genetic Variation [78]
SLC35G1 OTKZUA8O moderate Biomarker [63]
SNRPD1 OTWKZV4E moderate Biomarker [79]
TECTA OT5E0NE2 moderate Genetic Variation [80]
TK2 OTS1V4XB moderate Genetic Variation [81]
TMIE OTQR4RRB moderate Biomarker [82]
TMTC2 OTY1QWYU moderate Genetic Variation [83]
TSFM OTP6OKPJ moderate Genetic Variation [84]
ABHD12 OTDP4F02 Strong CausalMutation [85]
ACADVL OT50L4XB Strong Genetic Variation [44]
ACTB OT1MCP2F Strong Biomarker [86]
ATOH1 OTBZYG2R Strong Biomarker [87]
ATP1A3 OTM8EG6H Strong Biomarker [88]
ATP1B1 OTTO6ZP4 Strong Biomarker [4]
ATP6V0A4 OT149Z7Q Strong Biomarker [89]
B3GALNT2 OTOF6O2B Strong Genetic Variation [90]
BCS1L OT5PY5CY Strong Genetic Variation [91]
BSND OTYWZWPD Strong Genetic Variation [92]
BTD OTJYTQ69 Strong Biomarker [93]
CDK5RAP2 OTRKEVTY Strong Genetic Variation [94]
CHD7 OTHNIZWZ Strong Genetic Variation [20]
CLDN9 OTCKI2IZ Strong Biomarker [95]
CLRN1 OT1ADI7Q Strong Genetic Variation [96]
COL11A1 OTB0DRMS Strong Genetic Variation [97]
COL11A2 OT3BQUBH Strong Biomarker [98]
COL9A1 OTWBR27Y Strong Biomarker [99]
COQ6 OTZWW1FX Strong Genetic Variation [100]
COX2 OTTMVBJJ Strong Biomarker [101]
COX8A OTU0NR39 Strong Biomarker [102]
DIAPH1 OTZBYPLH Strong Genetic Variation [103]
DLX5 OTEEFBEU Strong Genetic Variation [104]
DMXL2 OTB4JWN3 Strong Biomarker [105]
ECHS1 OTS0593S Strong Genetic Variation [106]
EIF3F OTU20K6L Strong Biomarker [107]
ERCC2 OT1C8HQ4 Strong Biomarker [35]
ESRP1 OTNCS4SL Strong Genetic Variation [108]
EYA4 OTINGR3Z Strong Biomarker [109]
GATA2 OTBP2QQ2 Strong Altered Expression [110]
GFER OTVK43OK Strong Biomarker [111]
GIPC3 OT8U28XD Strong Genetic Variation [112]
GLIS3 OTBC960E Strong Biomarker [113]
GPR143 OTWUA2AV Strong Genetic Variation [114]
HARS2 OTC8X3H9 Strong Genetic Variation [115]
HOMER2 OT4JGKJF Strong Genetic Variation [116]
IARS2 OTDX4SCA Strong Biomarker [117]
ILDR1 OTQK8XLK Strong Biomarker [118]
IRX5 OT05J514 Strong Biomarker [119]
KDM6A OTZM3MJJ Strong Biomarker [120]
KMT2D OTTVHCLY Strong CausalMutation [106]
LDAH OTXRU9XQ Strong Genetic Variation [121]
LHX3 OTQ5BAJ9 Strong Biomarker [122]
LMX1A OTEEYD5L Strong Biomarker [123]
LRTOMT OTMLESUJ Strong Biomarker [124]
MITF OT6XJCZH Strong Genetic Variation [20]
MRPS2 OTW1XGW7 Strong Biomarker [125]
MYH6 OT3YNCH1 Strong Genetic Variation [126]
MYO15A OTVR4DV8 Strong Genetic Variation [127]
MYO1C OT69L39Y Strong Genetic Variation [128]
MYO6 OTJQYRC7 Strong Genetic Variation [126]
NIPBL OTF6OOLU Strong Genetic Variation [129]
NOP56 OTT67SRZ Strong Biomarker [130]
OTOA OTBTEFIE Strong Genetic Variation [44]
OTOF OTXQMJY8 Strong Genetic Variation [131]
PAX3 OTN5PJZV Strong Genetic Variation [132]
PCDH15 OTU9C2EH Strong Genetic Variation [133]
PDZD7 OTX3VAOB Strong Biomarker [134]
PEX1 OTQJF0V7 Strong Genetic Variation [135]
PNPT1 OTBR2Q0F Strong Biomarker [136]
POLG OTDUCT04 Strong Genetic Variation [137]
PRPS1 OTN3A6CN Strong Biomarker [138]
PTCRA OTQTO5QZ Strong Genetic Variation [18]
PTRH2 OTBU39Q1 Strong Genetic Variation [139]
RERE OT3G4GBZ Strong Genetic Variation [140]
RFX1 OTZUDMPR Strong Genetic Variation [141]
RFX3 OTE0EI8Z Strong Genetic Variation [141]
SERPINB6 OT7G55IK Strong Biomarker [14]
SIX1 OT70YYWM Strong Genetic Variation [142]
SMPX OTLSHGBF Strong Genetic Variation [143]
SOX10 OTF25ULQ Strong Genetic Variation [144]
STRC OT3JQYVJ Strong Biomarker [145]
TANGO2 OTT9UI89 Strong CausalMutation [146]
TBC1D24 OTKZUSMD Strong Genetic Variation [147]
TBL1Y OTA0F7TM Strong Genetic Variation [148]
TMC1 OTHYH8MU Strong Genetic Variation [149]
TP63 OT0WOOKQ Strong Genetic Variation [28]
MYO1F OTOAV4AR Definitive Genetic Variation [150]
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⏷ Show the Full List of 125 DOT(s)

References

1 Methotrexate FDA Label
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3 Cytokine Profile and Immunoglobulin E-mediated Serological Food Hypersensitivity in Patients With Irritable Bowel Syndrome With Diarrhea.J Neurogastroenterol Motil. 2018 Jul 30;24(3):415-421. doi: 10.5056/jnm17114.
4 Long-lasting changes in the cochlear K+ recycling structures after acute energy failure.Neurosci Res. 2013 Sep-Oct;77(1-2):33-41. doi: 10.1016/j.neures.2013.06.003. Epub 2013 Jul 1.
5 Grxcr1 Promotes Hair Bundle Development by Destabilizing the Physical Interaction between Harmonin and Sans Usher Syndrome Proteins.Cell Rep. 2018 Oct 30;25(5):1281-1291.e4. doi: 10.1016/j.celrep.2018.10.005.
6 Association of glutamate metabotropic receptor polymorphisms and sensorineural hearing loss in adults of different age groups.Braz J Otorhinolaryngol. 2019 Sep-Oct;85(5):560-564. doi: 10.1016/j.bjorl.2018.04.007. Epub 2018 May 18.
7 Helios is a key transcriptional regulator of outer hair cell maturation.Nature. 2018 Nov;563(7733):696-700. doi: 10.1038/s41586-018-0728-4. Epub 2018 Nov 21.
8 Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity.Circ Cardiovasc Genet. 2013 Apr;6(2):193-200. doi: 10.1161/CIRCGENETICS.112.964684. Epub 2013 Feb 7.
9 Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome. Clin Genet. 2014 Sep;86(3):282-6. doi: 10.1111/cge.12265. Epub 2013 Sep 23.
10 Sensorineural Hearing Loss After Adoptive Cell Immunotherapy for Melanoma Using MART-1 Specific T Cells: A Case Report and Its Pathophysiology.Otol Neurotol. 2019 Aug;40(7):e674-e678. doi: 10.1097/MAO.0000000000002332.
11 Diabetes mellitus, thiamine-dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase activity.J Pediatr. 1985 Oct;107(4):537-41. doi: 10.1016/s0022-3476(85)80011-1.
12 A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.Hum Mol Genet. 2011 May 15;20(10):1893-905. doi: 10.1093/hmg/ddr071. Epub 2011 Feb 24.
13 A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child. Am J Med Genet A. 2009 Mar;149A(3):427-30. doi: 10.1002/ajmg.a.32619.
14 Subtelomeric 6p25 deletion/duplication: Report of a patient with new clinical findings and genotype-phenotype correlations.Eur J Med Genet. 2015 May;58(5):310-8. doi: 10.1016/j.ejmg.2015.02.011. Epub 2015 Mar 24.
15 CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family.Ophthalmic Genet. 2018 Aug;39(4):500-507. doi: 10.1080/13816810.2018.1466338. Epub 2018 May 2.
16 Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness. J Med Genet. 2008 Mar;45(3):182-6. doi: 10.1136/jmg.2007.052944.
17 Lack of association between DNMT1 gene polymorphisms and noise-induced hearing loss in a Chinese population.Noise Health. 2013 Jul-Aug;15(65):231-6. doi: 10.4103/1463-1741.113517.
18 Main Aspects of Peripheral and Central Hearing System Involvement in Unexplained HIV-Related Hearing Complaints.Front Neurol. 2019 Aug 6;10:845. doi: 10.3389/fneur.2019.00845. eCollection 2019.
19 Hearing loss in a mouse model of Muenke syndrome.Hum Mol Genet. 2009 Jan 1;18(1):43-50. doi: 10.1093/hmg/ddn311. Epub 2008 Sep 25.
20 Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.BMC Med Genomics. 2018 Jul 9;11(1):58. doi: 10.1186/s12920-018-0375-5.
21 Mutation screening of the GJA7 (Cx45) gene in a large international series of probands with nonsyndromic hearing impairment.Genet Test Mol Biomarkers. 2011 May;15(5):333-6. doi: 10.1089/gtmb.2010.0085. Epub 2011 Jan 22.
22 Confirmation of GRHL2 as the gene for the DFNA28 locus.Am J Med Genet A. 2013 Aug;161A(8):2060-5. doi: 10.1002/ajmg.a.36017. Epub 2013 Jun 27.
23 NAD Deficiency, Congenital Malformations, and Niacin Supplementation. N Engl J Med. 2017 Aug 10;377(6):544-552.
24 Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.Ear Hear. 2016 Jan-Feb;37(1):112-20. doi: 10.1097/AUD.0000000000000198.
25 Early canakinumab therapy for the sensorineural deafness in a family with Muckle-Wells syndrome due to a novel mutation of NLRP3 gene.Clin Rheumatol. 2019 Mar;38(3):943-948. doi: 10.1007/s10067-018-4331-8. Epub 2018 Oct 18.
26 A novel missense variant in PRKCB segregates low-frequency hearing loss in an autosomal dominant family with Meniere's disease.Hum Mol Genet. 2016 Aug 15;25(16):3407-3415. doi: 10.1093/hmg/ddw183. Epub 2016 Jun 21.
27 Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.Hum Mutat. 2010 Mar;31(3):284-94. doi: 10.1002/humu.21187.
28 Role of p63 and the Notch pathway in cochlea development and sensorineural deafness.Proc Natl Acad Sci U S A. 2013 Apr 30;110(18):7300-5. doi: 10.1073/pnas.1214498110. Epub 2013 Apr 15.
29 Study on the relationship between the pathogenic mutations of SLC26A4 and CT phenotypes of inner ear in patient with sensorineural hearing loss.Biosci Rep. 2019 Mar 22;39(3):BSR20182241. doi: 10.1042/BSR20182241. Print 2019 Mar 29.
30 SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters.Clin Chim Acta. 2016 Nov 1;462:210-214. doi: 10.1016/j.cca.2016.09.022. Epub 2016 Oct 1.
31 Human cytomegalovirus downregulates SLITRK6 expression through IE2.J Neurovirol. 2017 Feb;23(1):79-86. doi: 10.1007/s13365-016-0475-y. Epub 2016 Aug 16.
32 Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.Hum Mol Genet. 2008 Jul 15;17(14):2150-9. doi: 10.1093/hmg/ddn114. Epub 2008 Apr 10.
33 Knock-in mouse model for resistance to thyroid hormone (RTH): an RTH mutation in the thyroid hormone receptor beta gene disrupts cochlear morphogenesis.J Assoc Res Otolaryngol. 2002 Sep;3(3):279-88. doi: 10.1007/s101620010092. Epub 2002 Feb 27.
34 TRPV4 axonal neuropathy spectrum disorder.J Clin Neurosci. 2012 Jul;19(7):927-33. doi: 10.1016/j.jocn.2011.12.003. Epub 2012 May 20.
35 Histopathology of the inner ear in patients with xeroderma pigmentosum and neurologic degeneration.Otol Neurotol. 2013 Sep;34(7):1230-6. doi: 10.1097/MAO.0b013e31829795e9.
36 Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness.Mol Genet Metab. 2012 May;106(1):43-7. doi: 10.1016/j.ymgme.2012.02.018. Epub 2012 Mar 5.
37 DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24. Am J Hum Genet. 2001 Jan;68(1):254-60. doi: 10.1086/316925. Epub 2000 Dec 11.
38 Glutaminolysis is Essential for Energy Production and Ion Transport in Human Corneal Endothelium.EBioMedicine. 2017 Feb;16:292-301. doi: 10.1016/j.ebiom.2017.01.004. Epub 2017 Jan 13.
39 Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.J Inherit Metab Dis. 2012 Nov;35(6):943-8. doi: 10.1007/s10545-012-9513-y. Epub 2012 Aug 3.
40 Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss.Elife. 2018 Jan 22;7:e31511. doi: 10.7554/eLife.31511.
41 Expanding the genotypic spectrum of Perrault syndrome.Clin Genet. 2017 Feb;91(2):302-312. doi: 10.1111/cge.12776. Epub 2016 Apr 1.
42 Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. Nat Genet. 2009 Jan;41(1):106-11. doi: 10.1038/ng.278. Epub 2008 Nov 30.
43 Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss. Hum Mutat. 2015 Jun;36(6):587-92. doi: 10.1002/humu.22781. Epub 2015 Apr 8.
44 Exome-based search for recurrent disease-causing alleles in Russian population.Eur J Med Genet. 2019 Jul;62(7):103656. doi: 10.1016/j.ejmg.2019.04.013. Epub 2019 Apr 24.
45 BCAP31-associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy.Am J Med Genet A. 2017 Jun;173(6):1640-1643. doi: 10.1002/ajmg.a.38127. Epub 2017 Mar 23.
46 Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans.PLoS One. 2016 Oct 28;11(10):e0165680. doi: 10.1371/journal.pone.0165680. eCollection 2016.
47 Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region.Genomics. 1998 Aug 1;51(3):427-33. doi: 10.1006/geno.1998.5391.
48 SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma.Hum Mol Genet. 2007 Oct 15;16(20):2482-93. doi: 10.1093/hmg/ddm204. Epub 2007 Jul 25.
49 Defective Gpsm2/G(i3) signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome.Nat Commun. 2017 Apr 7;8:14907. doi: 10.1038/ncomms14907.
50 Further evidence for "gain-of-function" mechanism of DFNA5 related hearing loss.Sci Rep. 2018 May 30;8(1):8424. doi: 10.1038/s41598-018-26554-7.
51 Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis.Hum Mutat. 2018 Dec;39(12):2047-2059. doi: 10.1002/humu.23657. Epub 2018 Oct 3.
52 Application of multiplanar reconstruction of spiral CT in the diagnosis and treatment of enlarged vestibular aqueducts.Acta Otolaryngol. 2019 Aug;139(8):665-670. doi: 10.1080/00016489.2019.1612534. Epub 2019 May 24.
53 Sensorineural hearing impairment in patients with Pmp22 duplication, deletion, and frameshift mutations.Otol Neurotol. 2005 May;26(3):405-14. doi: 10.1097/01.mao.0000169769.93173.df.
54 A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus.Am J Med Genet A. 2019 Jul;179(7):1299-1303. doi: 10.1002/ajmg.a.61150. Epub 2019 Apr 22.
55 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.
56 TMPRSS3 regulates cell viability and apoptosis processes of HEI-OC1 cells via regulation of the circ-Slc4a2, miR-182 and Akt cascade.J Gene Med. 2019 Oct;21(10):e3118. doi: 10.1002/jgm.3118. Epub 2019 Sep 4.
57 Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families.J Clin Endocrinol Metab. 2000 Apr;85(4):1703-10. doi: 10.1210/jcem.85.4.6507.
58 3p-- syndrome defines a hearing loss locus in 3p25.3.Hear Res. 2007 Feb;224(1-2):51-60. doi: 10.1016/j.heares.2006.11.006. Epub 2007 Jan 8.
59 Visual speech alters the discrimination and identification of non-intact auditory speech in children with hearing loss.Int J Pediatr Otorhinolaryngol. 2017 Mar;94:127-137. doi: 10.1016/j.ijporl.2017.01.009. Epub 2017 Jan 9.
60 Cog4 is required for protrusion and extension of the epithelium in the developing semicircular canals.Mech Dev. 2019 Feb;155:1-7. doi: 10.1016/j.mod.2018.09.003. Epub 2018 Oct 1.
61 Czech dysplasia: report of a large family and further delineation of the phenotype.Am J Med Genet A. 2008 Jul 15;146A(14):1859-64. doi: 10.1002/ajmg.a.32389.
62 Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.Clin J Am Soc Nephrol. 2013 Apr;8(4):637-48. doi: 10.2215/CJN.07200712. Epub 2013 Jan 24.
63 Altered Functional Connectivity in Patients With Sloping Sensorineural Hearing Loss.Front Hum Neurosci. 2019 Aug 22;13:284. doi: 10.3389/fnhum.2019.00284. eCollection 2019.
64 Auditory Outcomes in Patients Who Received Proton Radiotherapy for Craniopharyngioma.Am J Audiol. 2018 Sep 12;27(3):306-315. doi: 10.1044/2018_AJA-18-0026.
65 Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. Am J Hum Genet. 2012 Feb 10;90(2):201-16. doi: 10.1016/j.ajhg.2011.12.004. Epub 2012 Jan 19.
66 FOXF2 is required for cochlear development in humans and mice.Hum Mol Genet. 2019 Apr 15;28(8):1286-1297. doi: 10.1093/hmg/ddy431.
67 Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss. Proc Natl Acad Sci U S A. 2019 Jan 22;116(4):1347-1352. doi: 10.1073/pnas.1810951116. Epub 2019 Jan 4.
68 Human deafness mutation E385D disrupts the mechanochemical coupling and subcellular targeting of myosin-1a.Biophys J. 2008 Jan 15;94(2):L5-7. doi: 10.1529/biophysj.107.122689. Epub 2007 Nov 2.
69 Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome).Ann Noninvasive Electrocardiol. 2003 Jul;8(3):246-50. doi: 10.1046/j.1542-474x.2003.08313.x.
70 A study of GJB2 and delGJB6-D13S1830 mutations in Brazilian non-syndromic deaf children from the Amazon region.Braz J Otorhinolaryngol. 2013 Jan-Feb;79(1):95-9. doi: 10.5935/1808-8694.20130016.
71 The role of transcription factors of neurosensory cells in non-syndromic sensorineural hearing loss with or without inner ear malformation.Acta Otolaryngol. 2016;136(3):277-82. doi: 10.3109/00016489.2015.1109706. Epub 2015 Dec 4.
72 Nfatc4 Deficiency Attenuates Ototoxicity by Suppressing Tnf-Mediated Hair Cell Apoptosis in the Mouse Cochlea.Front Immunol. 2019 Jul 17;10:1660. doi: 10.3389/fimmu.2019.01660. eCollection 2019.
73 Speech Perception in Noise and Listening Effort of Older Adults With Nonlinear Frequency Compression Hearing Aids.Ear Hear. 2018 Mar/Apr;39(2):215-225. doi: 10.1097/AUD.0000000000000481.
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100 Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype.Eur J Med Genet. 2020 Jan;63(1):103621. doi: 10.1016/j.ejmg.2019.01.011. Epub 2019 Jan 22.
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104 Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype.Brain. 2007 Oct;130(Pt 10):2736-45. doi: 10.1093/brain/awm209.
105 Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course. Brain. 2019 Dec 1;142(12):3876-3891. doi: 10.1093/brain/awz326.
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109 Expression pattern of EYA4 in the common marmoset (Callithrix jacchus) cochlea.Neurosci Lett. 2018 Jan 1;662:185-188. doi: 10.1016/j.neulet.2017.10.030. Epub 2017 Oct 18.
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114 Ocular albinism with infertility and late-onset sensorineural hearing loss.Am J Med Genet A. 2018 Jul;176(7):1587-1593. doi: 10.1002/ajmg.a.38836.
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133 Mutation in PCDH15 may modify the phenotypic expression of the 7511T>C mutation in MT-TS1 in a Chinese Han family with maternally inherited nonsyndromic hearing loss.Int J Pediatr Otorhinolaryngol. 2015 Oct;79(10):1654-7. doi: 10.1016/j.ijporl.2015.07.008. Epub 2015 Jul 11.
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135 Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene.Eur J Med Genet. 2016 Oct;59(10):507-11. doi: 10.1016/j.ejmg.2016.09.004. Epub 2016 Sep 12.
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