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
ISO
RGD
PMID:17275194
RGD:8655559
NCBI chr13:36,743,027...36,744,266
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BDNF
brain derived neurotrophic factor
ISO
protein:increased expression:cochlea:
RGD
PMID:17275194 PMID:19925854 PMID:22723694
RGD:8636263 RGD:8655559 RGD:8655575
NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
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CALB1
calbindin 1
ISO
RGD
PMID:22428005
RGD:401940127
NCBI chr29:35,551,836...35,572,985
Ensembl chr29:35,552,436...35,572,925
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CAT
catalase
susceptibility severity treatment
ISO
DNA:SNPs,haplotype::
RGD
PMID:17567781 PMID:18212468 PMID:23179931
RGD:9068906 RGD:9068923 RGD:9190810
NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
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CCL2
C-C motif chemokine ligand 2
ISO
mRNA:increased expression:cochlea (mouse)
RGD
PMID:17081714
RGD:8549464
NCBI chr 9:39,008,187...39,009,932
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CCR2
C-C motif chemokine receptor 2
ISO
RGD
PMID:17075702
RGD:8657356
NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
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CDH23
cadherin related 23
no_association
ISO
DNA:SNPs: :rs1227049, rs1227051 (human) DNA:SNPs: :rs1227049, rs3802711 (human)
RGD
PMID:16598924
RGD:8662283
NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
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CDKN1A
cyclin dependent kinase inhibitor 1A
ISO
RGD
PMID:21187137
RGD:8661793
NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281
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CFI
complement factor I
ISO
mRNA:increased expression:spiral organ of cochlea, sensory epithelium
RGD
PMID:23727008
RGD:8662317
NCBI chr32:29,936,447...29,986,755
Ensembl chr32:29,936,393...29,985,724
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CNTN1
contactin 1
ISO
RGD
PMID:22044737
RGD:5685697
NCBI chr27:12,655,021...13,005,536
Ensembl chr27:12,657,287...12,920,315
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GABRA1
gamma-aminobutyric acid type A receptor subunit alpha1
ISO
RGD
PMID:22428005
RGD:401940127
NCBI chr 4:49,006,981...49,065,205
Ensembl chr 4:49,009,495...49,062,581
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GAD1
glutamate decarboxylase 1
ISO
RGD
PMID:22428005
RGD:401940127
NCBI chr36:15,351,289...15,391,701
Ensembl chr36:15,349,683...15,391,824
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GAP43
growth associated protein 43
ISO
RGD
PMID:22428005
RGD:401940127
NCBI chr33:19,668,491...19,770,509
Ensembl chr33:19,656,835...19,770,408
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GJB2
gap junction protein beta 2
ISO
protein:increased expression:cochlea:
RGD
PMID:15224875
RGD:7349367
NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
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HIF1A
hypoxia inducible factor 1 subunit alpha
treatment
ISO
RGD
PMID:21787680
RGD:8695948
NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692
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HSP70
heat shock protein 70
ISO
DNA:SNP, haplotype: :rs1061581 (human)
RGD
PMID:18813331
RGD:8662841
NCBI chr12:1,285,282...1,287,670
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ICAM1
intercellular adhesion molecule 1
ISO
RGD
PMID:19213042
RGD:8547577
NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
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IGF1
insulin like growth factor 1
ISO
RGD
PMID:16585854
RGD:8549455
NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
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IL6
interleukin 6
ISO
RGD
PMID:16429448
RGD:7829818
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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KCNE1
potassium voltage-gated channel subfamily E regulatory subunit 1
ISO
ClinVar Annotator: match by term: Noise induced hearing loss
ClinVar
PMID:7828904 PMID:9445165 PMID:12402336 PMID:14661677 PMID:14760488 PMID:15599693 PMID:16487223 PMID:17161064 PMID:17210839 PMID:17597962 PMID:18426444 PMID:22581653 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr31:29,858,428...29,868,315
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KCNQ1
potassium voltage-gated channel subfamily Q member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16823764
NCBI chr18:46,554,390...46,830,533
Ensembl chr18:46,518,908...46,830,043
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KCNQ4
potassium voltage-gated channel subfamily Q member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16823764
NCBI chr15:2,203,938...2,257,152
Ensembl chr15:2,205,276...2,242,093
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LOC474850
heat shock 70 kDa protein 1-like
ISO
DNA:SNP, haplotype: :rs2227956 (human)
RGD
PMID:17009596
RGD:8662466
NCBI chr12:1,281,164...1,285,010
Ensembl chr12:1,281,472...1,285,440
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MIR107
microRNA mir-107
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr28:4,484,653...4,484,710
Ensembl chr28:4,484,646...4,484,718
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MIR10A
microRNA mir-10a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr 9:24,842,171...24,842,233
Ensembl chr 9:24,842,145...24,842,248
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MIR146B
microRNA mir-146b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr28:14,940,550...14,940,610
Ensembl chr28:14,940,550...14,940,610
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MIR183
microRNA mir-183
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr14:7,068,542...7,068,603
Ensembl chr14:7,068,519...7,068,625
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MIR186
microRNA mir-186
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr 6:74,881,615...74,881,675
Ensembl chr 6:74,881,601...74,881,686
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MIR190B
microRNA mir-190b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr 7:43,037,530...43,037,607
Ensembl chr 7:43,037,530...43,037,607
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MIR200C
microRNA mir-200c
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr27:38,082,097...38,082,159
Ensembl chr27:38,082,091...38,082,169
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MIR30D
microRNA mir-30d
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr13:30,910,306...30,910,365
Ensembl chr13:30,910,306...30,910,365
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MIR30E
microRNA mir-30e
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr15:2,283,306...2,283,369
Ensembl chr15:2,283,306...2,283,369
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MIR331
microRNA mir-331
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr15:35,234,750...35,234,839
Ensembl chr15:35,234,740...35,234,850
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MIR339-1
microRNA mir-339-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr 6:15,853,520...15,853,577
Ensembl chr 6:15,853,520...15,853,577
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MIR381
microRNA mir-381
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr 8:69,274,983...69,275,057
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MIR532
microRNA mir-532
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr X:42,774,680...42,774,738
Ensembl chr X:42,774,680...42,774,738
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MIR99B
microRNA mir-99b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr 1:105,400,925...105,400,984
Ensembl chr 1:105,400,925...105,400,984
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MMP7
matrix metallopeptidase 7
ISO
RGD
PMID:23100416
RGD:9685340
NCBI chr 5:29,187,902...29,196,157
Ensembl chr 5:29,187,851...29,196,153
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NOB1
NIN1 (RPN12) binding protein 1 homolog
ISO
mRNA:increased expression:cochlea
RGD
PMID:21219967
RGD:10766449
NCBI chr 5:79,958,145...79,966,166
Ensembl chr 5:79,945,446...79,966,147
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NR3C1
nuclear receptor subfamily 3 group C member 1
ISO
protein:increased expression:hippocampus
RGD
PMID:31071644
RGD:408364986
NCBI chr 2:38,124,568...38,242,510
Ensembl chr 2:38,123,190...38,240,755
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OGG1
8-oxoguanine DNA glycosylase
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:p.S326C (rs1052133) (human)
CTD RGD
PMID:24599382
RGD:8657374
NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264
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PON2
paraoxonase 2
susceptibility
ISO
DNA:SNPs: :multiple
RGD
PMID:23327886
RGD:8661240
NCBI chr14:20,652,905...20,680,945
Ensembl chr14:20,652,905...20,680,980
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PROC
protein C, inactivator of coagulation factors Va and VIIIa
treatment
ISO
RGD
PMID:25108045
RGD:11100045
NCBI chr19:23,173,626...23,183,634
Ensembl chr19:23,173,635...23,183,563
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PTGER4
prostaglandin E receptor 4
resistance
ISO
RGD
PMID:22198478
RGD:6483524
NCBI chr 4:68,663,362...68,676,241
Ensembl chr 4:68,663,364...68,676,358
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SELL
selectin L
ISO
RGD
PMID:22044737
RGD:5685697
NCBI chr 7:28,906,752...28,927,959
Ensembl chr 7:28,906,809...29,094,008
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SLC26A5
solute carrier family 26 member 5
ISO
mRNA, protein:increased expression:cochlea (mouse)
RGD
PMID:24376553
RGD:9585684
NCBI chr18:16,783,795...16,841,946
Ensembl chr18:16,788,759...16,839,940
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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:10436316 PMID:19895330 PMID:22931816
RGD:8655611 RGD:8655851 RGD:8655966
NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
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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 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
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SRC
SRC proto-oncogene, non-receptor tyrosine kinase
treatment
ISO
RGD
PMID:21840347
RGD:11554196
NCBI chr24:25,982,499...26,019,748
Ensembl chr24:25,999,048...26,018,077
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TAOK1
TAO kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23472202
NCBI chr 9:43,501,752...43,660,077
Ensembl chr 9:43,559,708...43,651,377
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TNF
tumor necrosis factor
ISO
mRNA:increased expression:cochlea:
RGD
PMID:19051071
RGD:7394705
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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