RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Hearing Loss, Noise-Induced
Accession: DOID:9002910
browse the term
Definition: Hearing loss due to exposure to explosive loud noise or chronic exposure to sound level greater than 85 dB. The hearing loss is often in the frequency range 4000-6000 hertz.
Synonyms: exact_synonym: Acoustic Trauma
related_synonym: Noise-induced hearing loss, association with; Noise-induced hearing loss, susceptibility to
primary_id: MESH:D006317
alt_id: MIM:613035
xref: EFO:1001254 ; EFO:1001338
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Arc
activity-regulated cytoskeleton-associated protein
IEP
RGD
PMID:17275194
RGD:8655559
NCBI chr 7:106,555,968...106,559,697
Ensembl chr 7:106,555,785...106,559,378
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Bdnf
brain-derived neurotrophic factor
ISO IEP
protein:increased expression:cochlea:
RGD
PMID:19925854 PMID:17275194 PMID:22723694
RGD:8636263 , RGD:8655559 , RGD:8655575
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Calb1
calbindin 1
IEP
RGD
PMID:22428005
RGD:401940127
NCBI chr 5:29,375,624...29,402,532
Ensembl chr 5:29,375,642...29,402,431
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Cat
catalase
susceptibility treatment severity
ISO
DNA:SNPs,haplotype::
RGD
PMID:17567781 PMID:23179931 PMID:18212468
RGD:9068906 , RGD:9068923 , RGD:9190810
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
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Ccl2
C-C motif chemokine ligand 2
ISO
mRNA:increased expression:cochlea (mouse)
RGD
PMID:17081714
RGD:8549464
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:17075702
RGD:8657356
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Cdh23
cadherin-related 23
no_association
ISO
DNA:SNPs: :rs1227049, rs3802711 (human) DNA:SNPs: :rs1227049, rs1227051 (human)
RGD
PMID:16598924 PMID:16598924
RGD:8662283 , RGD:8662283
NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
RGD
PMID:21187137
RGD:8661793
NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585
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Cfi
complement factor I
IEP
mRNA:increased expression:spiral organ of cochlea, sensory epithelium
RGD
PMID:23727008
RGD:8662317
NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561
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Cntn1
contactin 1
IEP
RGD
PMID:22044737
RGD:5685697
NCBI chr 7:123,263,146...123,560,896
Ensembl chr 7:123,372,792...123,558,541
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Gabra1
gamma-aminobutyric acid type A receptor subunit alpha 1
IEP
RGD
PMID:22428005
RGD:401940127
NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864
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Gad1
glutamate decarboxylase 1
IEP
RGD
PMID:22428005
RGD:401940127
NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333
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Gap43
growth associated protein 43
IEP
RGD
PMID:22428005
RGD:401940127
NCBI chr11:58,376,371...58,470,047
Ensembl chr11:58,376,371...58,470,045
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Gjb2
gap junction protein, beta 2
IEP
protein:increased expression:cochlea:
RGD
PMID:15224875
RGD:7349367
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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Gstm1
glutathione S-transferase mu 1
susceptibility no_association
ISO
DNA:deletion, haplotype:cds (human) DNA:deletion:cds (human)
RGD
PMID:19643173 PMID:16535824
RGD:7488956 , RGD:7495798
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
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Gstt1
glutathione S-transferase theta 1
susceptibility no_association
ISO
DNA:deletion:cds (human)
RGD
PMID:16535824 PMID:15811702
RGD:7495798 , RGD:7794850
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585
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Hif1a
hypoxia inducible factor 1 subunit alpha
treatment
ISO
RGD
PMID:21787680
RGD:8695948
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Hspa1a
heat shock protein family A (Hsp70) member 1A
ISO
DNA:SNP, haplotype: :rs1043618 (human)
RGD
PMID:17009596
RGD:8662466
NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227
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Hspa1b
heat shock protein family A (Hsp70) member 1B
ISO
DNA:SNP, haplotype: :rs1061581 (human)
RGD
PMID:18813331
RGD:8662841
NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240 Ensembl chr20:3,856,006...3,873,240
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Hspa1l
heat shock protein family A (Hsp70) member 1 like
ISO
DNA:SNP, haplotype: :rs2227956 (human)
RGD
PMID:17009596
RGD:8662466
NCBI chr20:3,848,843...3,855,571
Ensembl chr20:3,848,843...3,855,571
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Icam1
intercellular adhesion molecule 1
IMP
RGD
PMID:19213042
RGD:8547577
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
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Igf1
insulin-like growth factor 1
ISO
RGD
PMID:16585854
RGD:8549455
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
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Il6
interleukin 6
IEP
RGD
PMID:16429448
RGD:7829818
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Kcne1
potassium voltage-gated channel subfamily E regulatory subunit 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Noise induced hearing loss
CTD ClinVar
PMID:7828904 PMID:9445165 PMID:12402336 PMID:14661677 PMID:14760488 PMID:15599693 PMID:16487223 PMID:16823764 PMID:17161064 PMID:17210839 PMID:17597962 PMID:18426444 PMID:22581653 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
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Kcnq1
potassium voltage-gated channel subfamily Q member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16823764
NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
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Kcnq4
potassium voltage-gated channel subfamily Q member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16823764
NCBI chr 5:134,275,145...134,326,992
Ensembl chr 5:134,275,934...134,326,932
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Mir107
microRNA 107
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr 1:232,337,767...232,337,853
Ensembl chr 1:232,337,767...232,337,853
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Mir10a
microRNA 10a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280
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Mir130b
microRNA 130b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr11:83,880,163...83,880,244
Ensembl chr11:83,880,163...83,880,244
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Mir146b
microRNA 146b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr 1:245,203,438...245,203,525
Ensembl chr 1:245,203,438...245,203,525
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Mir183
microRNA 183
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr 4:58,788,614...58,788,723
Ensembl chr 4:58,788,614...58,788,723
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Mir186
microRNA 186
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr 2:246,582,806...246,582,891
Ensembl chr 2:246,582,806...246,582,891
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Mir190b
microRNA 190b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr 2:175,514,800...175,514,877
Ensembl chr 2:175,514,800...175,514,877
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Mir200c
microRNA 200c
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr 4:157,523,679...157,523,747
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Mir30d
microRNA 30d
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr 7:100,136,391...100,136,472
Ensembl chr 7:100,136,391...100,136,472
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Mir30e
microRNA 30e
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr 5:134,352,232...134,352,323
Ensembl chr 5:134,352,232...134,352,323
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Mir331
microRNA 331
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr 7:28,527,390...28,527,485
Ensembl chr 7:28,527,390...28,527,485
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Mir339
microRNA 339
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr12:15,277,546...15,277,641
Ensembl chr12:15,277,546...15,277,641
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Mir381
microRNA 381
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr 6:128,740,976...128,741,036
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Mir429
microRNA 429
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543
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Mir532
microRNA 532
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr X:15,247,315...15,247,393
Ensembl chr X:15,247,315...15,247,393
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Mir99b
microRNA 99b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr 1:58,677,015...58,677,084
Ensembl chr 1:58,677,011...58,677,090
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Mmp7
matrix metallopeptidase 7
ISO
RGD
PMID:23100416
RGD:9685340
NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
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Nob1
NIN1 (RPN12) binding protein 1 homolog
IEP
mRNA:increased expression:cochlea
RGD
PMID:21219967
RGD:10766449
NCBI chr19:35,322,803...35,335,354
Ensembl chr19:35,322,669...35,346,815
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
IEP
protein:increased expression:hippocampus
RGD
PMID:31071644
RGD:408364986
NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375
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Ogg1
8-oxoguanine DNA glycosylase
susceptibility
ISO
DNA:missense mutation:exon:p.S326C (rs1052133) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24599382 PMID:24599382
RGD:8657374
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Pon2
paraoxonase 2
susceptibility
ISO
DNA:SNPs: :multiple
RGD
PMID:23327886
RGD:8661240
NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248
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Proc
protein C, inactivator of coagulation factors Va and VIIIa
treatment
ISO
RGD
PMID:25108045
RGD:11100045
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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Ptger4
prostaglandin E receptor 4
resistance
ISO
RGD
PMID:22198478
RGD:6483524
NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
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Sell
selectin L
IEP
RGD
PMID:22044737
RGD:5685697
NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456
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Slc26a5
solute carrier family 26 member 5
ISO
mRNA, protein:increased expression:cochlea (mouse)
RGD
PMID:24376553
RGD:9585684
NCBI chr 4:13,210,260...13,249,289
Ensembl chr 4:13,210,260...13,249,289
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Sod1
superoxide dismutase 1
susceptibility severity
ISO
DNA:snps, haplotypes:introns:multiple (human) DNA:snps:introns:IVS2+193T>G (rs10432782), IVS3-251A>G (rs2070424) (human)
RGD
PMID:19895330 PMID:22931816 PMID:10436316
RGD:8655611 , RGD:8655851 , RGD:8655966
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod2
superoxide dismutase 2
susceptibility
ISO
DNA:polymorphisms:intron:IVS3-23T>G, IVS3-60T>G (human) DNA:SNP:cds:p.V16A(rs4880)(human)
RGD
PMID:15345661 PMID:20534900
RGD:8158044 , RGD:8158046
NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189
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Src
SRC proto-oncogene, non-receptor tyrosine kinase
treatment
ISO
RGD
PMID:21840347
RGD:11554196
NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
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Taok1
TAO kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr10:62,373,072...62,465,295
Ensembl chr10:62,381,404...62,465,766
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Tnf
tumor necrosis factor
IEP
mRNA:increased expression:cochlea:
RGD
PMID:19051071
RGD:7394705
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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