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G |
NIPBL |
NIPBL cohesin loading factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19763162 |
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NCBI chr 4:71,583,118...71,780,986
Ensembl chr 4:71,583,732...71,780,852
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G |
PRKRA |
protein activator of interferon induced protein kinase EIF2AK2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25554729 |
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NCBI chr36:22,061,226...22,080,324
Ensembl chr36:22,061,461...22,080,612
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G |
SRRM4 |
serine/arginine repetitive matrix 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17613114 |
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NCBI chr26:15,049,612...15,324,454
Ensembl chr26:15,057,392...15,318,325
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G |
TTPA |
alpha tocopherol transfer protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10896705 |
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NCBI chr29:13,177,690...13,198,910
Ensembl chr29:13,182,308...13,192,553
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G |
ACAT2 |
acetyl-CoA acetyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:49,011,665...49,029,368
Ensembl chr 1:49,011,706...49,029,327
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G |
AGPAT4 |
1-acylglycerol-3-phosphate O-acyltransferase 4 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:49,709,437...49,837,848
Ensembl chr 1:49,709,741...49,837,091
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G |
ATP2B2 |
ATPase plasma membrane Ca2+ transporting 2 |
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ISO |
ClinVar Annotator: match by term: MEGDEL syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474
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G |
DYNLT1 |
dynein light chain Tctex-type 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,058,804...48,066,389
Ensembl chr 1:48,058,804...48,066,609
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G |
EZR |
ezrin |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,160,206...48,210,036
Ensembl chr 1:48,160,206...48,210,036
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G |
FNDC1 |
fibronectin type III domain containing 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,501,657...48,602,962
Ensembl chr 1:48,501,355...48,602,336
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G |
GTF2H5 |
general transcription factor IIH subunit 5 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,669,196...47,681,370
Ensembl chr 1:47,669,248...47,681,368
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G |
IGF2R |
insulin like growth factor 2 receptor |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:49,161,551...49,262,260
Ensembl chr 1:49,161,444...49,262,277
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G |
MAP3K4 |
mitogen-activated protein kinase kinase kinase 4 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:49,590,615...49,702,289
Ensembl chr 1:49,548,274...49,702,289
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G |
MAS1 |
MAS1 proto-oncogene, G protein-coupled receptor |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:49,090,041...49,105,244
Ensembl chr 1:49,090,041...49,105,244
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G |
MRPL18 |
mitochondrial ribosomal protein L18 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:49,038,814...49,043,667
Ensembl chr 1:49,038,871...49,043,501
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G |
PLG |
plasminogen |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:49,497,229...49,535,260
Ensembl chr 1:49,497,229...49,535,260
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G |
PNLDC1 |
PARN like ribonuclease domain containing exonuclease 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:49,045,153...49,063,008
Ensembl chr 1:49,044,979...49,062,802
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G |
PRKN |
parkin RBR E3 ubiquitin protein ligase |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764
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G |
RSPH3 |
radial spoke head 3 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,329,171...48,349,924
Ensembl chr 1:48,329,211...48,349,088
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G |
SERAC1 |
serine active site containing 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | ClinVar Annotator: match by term: MEGDEL syndrome | ClinVar Annotator: match by term: SERAC1-related neurological disorder |
OMIM ClinVar |
PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 PMID:23707711 PMID:24033266 PMID:24997715 PMID:25016221 PMID:25741868 PMID:26863999 PMID:27604308 PMID:28482397 PMID:28492532 PMID:28778788 PMID:28916646 PMID:29205472 PMID:29686941 PMID:31251474 PMID:32005694 PMID:32313153 PMID:33431980 PMID:33613893 PMID:37712079 More...
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NCBI chr 1:47,599,802...47,651,034
Ensembl chr 1:47,578,472...47,669,494
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G |
SLC22A1 |
solute carrier family 22 member 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:49,268,978...49,296,522
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G |
SLC22A2 |
solute carrier family 22 member 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:49,327,621...49,348,435
Ensembl chr 1:49,327,296...49,348,435
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G |
SLC22A3 |
solute carrier family 22 member 3 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:49,407,949...49,496,627
Ensembl chr 1:49,407,966...49,496,620
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G |
SOD2 |
superoxide dismutase 2 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
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G |
SYTL3 |
synaptotagmin like 3 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,066,449...48,159,980
Ensembl chr 1:48,067,612...48,159,936
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G |
TAGAP |
T cell activation RhoGTPase activating protein |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,382,688...48,392,977
Ensembl chr 1:48,383,504...48,392,188
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G |
TCP1 |
t-complex 1 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:49,029,260...49,038,023
Ensembl chr 1:49,029,282...49,038,020
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G |
TMEM181 |
transmembrane protein 181 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,969,247...48,058,207
Ensembl chr 1:47,983,174...48,055,111
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G |
TULP4 |
TUB like protein 4 |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:47,727,642...47,952,818
Ensembl chr 1:47,791,993...47,951,710
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G |
WTAP |
WT1 associated protein |
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ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
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NCBI chr 1:48,976,523...49,004,536
Ensembl chr 1:48,976,499...49,003,961
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G |
MT-CO1 |
mitochondrially encoded cytochrome c oxidase I |
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ISO |
ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY |
ClinVar |
PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 PMID:8680405 PMID:9742104 PMID:10577941 PMID:16152638 PMID:17659260 PMID:20301595 PMID:25741868 PMID:32906214 More...
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NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893
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G |
MT-ND1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
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ISO |
ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY |
ClinVar |
PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 PMID:8817331 PMID:9039999 PMID:9111378 PMID:9164619 PMID:9315872 PMID:9391883 PMID:9490575 PMID:9779807 PMID:9831149 PMID:9887373 PMID:9915970 PMID:9950117 PMID:10521300 PMID:10577941 PMID:10633132 PMID:10661905 PMID:10788333 PMID:10915767 PMID:11174059 PMID:11230176 PMID:11388757 PMID:11857751 PMID:11870684 PMID:12031626 PMID:12054632 PMID:12127547 PMID:12372057 PMID:12624722 PMID:12655418 PMID:12920080 PMID:12939650 PMID:12955586 PMID:14699607 PMID:14755216 PMID:15708009 PMID:15841390 PMID:15917167 PMID:16152638 PMID:16168391 PMID:16375862 PMID:16458854 PMID:16631122 PMID:16826519 PMID:16935512 PMID:16955413 PMID:17341440 PMID:17637808 PMID:17698299 PMID:17723226 PMID:17999439 PMID:18386806 PMID:18790089 PMID:18820594 PMID:18830133 PMID:18983818 PMID:19196684 PMID:19196685 PMID:19376484 PMID:19475720 PMID:19687236 PMID:19818876 PMID:19835846 PMID:20100600 PMID:20111055 PMID:20172897 PMID:20301595 PMID:20353758 PMID:20416460 PMID:21047563 PMID:21162657 PMID:21205314 PMID:21329993 PMID:21495045 PMID:21504270 PMID:21725156 PMID:21777984 PMID:21811586 PMID:21828074 PMID:22223843 PMID:22475488 PMID:22879993 PMID:22992668 PMID:23256547 PMID:23525847 PMID:24033266 PMID:24252789 PMID:24651602 PMID:24703164 PMID:25155176 PMID:25515069 PMID:25741868 PMID:25744662 PMID:26497601 PMID:26822237 PMID:27427311 PMID:28049726 PMID:28520359 PMID:29805548 PMID:32906214 More...
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NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703
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G |
TRMU |
tRNA mitochondrial 2-thiouridylase |
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ISO |
ClinVar Annotator: match by term: Aminoglycoside-induced deafness | ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of | ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY |
OMIM ClinVar |
PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 PMID:21153446 PMID:21169334 PMID:21931168 PMID:23625533 PMID:25665837 PMID:25741868 PMID:26633542 PMID:28049726 PMID:28252636 PMID:28492532 PMID:28973083 PMID:30369941 PMID:30740308 PMID:31160058 PMID:32445240 PMID:33365252 PMID:33485800 PMID:34052969 PMID:36305855 PMID:38113276 More...
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NCBI chr10:19,841,813...19,859,514
Ensembl chr10:19,841,854...19,859,470
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G |
PITX2 |
paired like homeodomain 2 |
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ISO |
DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) |
RGD |
PMID:17701896 |
RGD:12910562 |
NCBI chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273
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G |
PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE | ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision |
OMIM ClinVar |
PMID:1664177 PMID:3278127 PMID:6243137 PMID:7593598 PMID:8253776 PMID:8498830 PMID:17701896 PMID:17701900 PMID:19161981 PMID:20301731 PMID:22246954 PMID:24033266 PMID:24528855 PMID:25741868 PMID:26089585 PMID:28492532 PMID:28967191 PMID:31906484 PMID:32781272 More...
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NCBI chr X:81,150,537...81,171,521
Ensembl chr X:81,150,536...81,212,689
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G |
HOXA1 |
homeobox A1 |
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ISO |
ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: Navajo brainstem syndrome |
OMIM ClinVar |
PMID:16155570 PMID:18412118 PMID:25741868 PMID:28492532 |
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NCBI chr14:40,267,033...40,272,212
Ensembl chr14:40,267,528...40,269,681
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G |
HOXA2 |
homeobox A2 |
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ISO |
ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: Navajo brainstem syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr14:40,273,992...40,276,975
Ensembl chr14:40,274,469...40,276,239
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G |
AIFM1 |
apoptosis inducing factor mitochondria associated 1 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr X:101,275,027...101,307,551
Ensembl chr X:101,275,017...101,307,367
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G |
CACNA1A |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032
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G |
CDH2 |
cadherin 2 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:28492532 |
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NCBI chr 7:60,736,760...60,950,477
Ensembl chr 7:60,736,760...60,951,034
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G |
FDXR |
ferredoxin reductase |
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ISO |
ClinVar Annotator: match by term: Auditory dys-synchrony |
ClinVar |
PMID:25741868 PMID:28965846 PMID:29040572 |
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NCBI chr 9:5,567,411...5,577,427
Ensembl chr 9:5,567,328...5,577,277
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G |
KIF5A |
kinesin family member 5A |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr10:1,637,007...1,666,790
Ensembl chr10:1,636,932...1,664,767
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G |
MFN2 |
mitofusin 2 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225
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G |
MYO7A |
myosin VIIA |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
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G |
NEFL |
neurofilament light chain |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224
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G |
NOTCH3 |
notch receptor 3 |
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ISO |
ClinVar Annotator: match by term: Auditory dys-synchrony | ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:25741868 |
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NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219
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G |
OPA1 |
OPA1 mitochondrial dynamin like GTPase |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr23:52,068,123...52,154,410
Ensembl chr23:52,068,118...52,151,593
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G |
OTOF |
otoferlin |
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ISO |
ClinVar Annotator: match by term: Auditory dys-synchrony | ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:18381613 PMID:19250381 PMID:22575033 PMID:25741868 PMID:26818607 PMID:28492532 More...
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NCBI chr17:20,518,480...20,619,713
Ensembl chr17:20,518,813...20,614,750
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G |
RAB33A |
RAB33A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr X:101,311,752...101,322,825
Ensembl chr X:101,312,611...101,322,689
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G |
SLC52A3 |
solute carrier family 52 member 3 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32579787 |
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NCBI chr24:20,127,527...20,141,070
Ensembl chr24:20,127,520...20,156,003
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G |
TIMM8A |
translocase of inner mitochondrial membrane 8A |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:30634948 |
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NCBI chr X:75,267,437...75,270,288
Ensembl chr X:75,267,450...75,270,288
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G |
TP63 |
tumor protein p63 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
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G |
TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165
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G |
TWNK |
twinkle mtDNA helicase |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:30818899 |
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NCBI chr28:13,672,772...13,680,732
Ensembl chr28:13,676,304...13,680,044
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G |
WFS1 |
wolframin ER transmembrane glycoprotein |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
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G |
HYAL3 |
hyaluronidase 3 |
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ISO |
ClinVar Annotator: match by term: Auroneurodental syndrome |
ClinVar |
PMID:34805998 |
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NCBI chr20:39,041,940...39,047,388
Ensembl chr20:39,042,070...39,047,365
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G |
NAA80 |
N-alpha-acetyltransferase 80, NatH catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Auroneurodental syndrome |
ClinVar |
PMID:34805998 |
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NCBI chr20:39,042,078...39,044,894
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G |
DIAPH3 |
diaphanous related formin 3 |
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ISO |
ClinVar Annotator: match by term: AUDITORY NEUROPATHY, NONSYNDROMIC DOMINANT | ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 | ClinVar Annotator: match by term: DIAPH3-related condition |
OMIM ClinVar |
PMID:9536098 PMID:15520414 PMID:17576681 PMID:20624953 PMID:21220648 PMID:25741868 PMID:26467025 PMID:27658576 PMID:28492532 More...
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NCBI chr22:15,573,485...16,078,580
Ensembl chr22:15,573,629...16,079,031
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G |
ATP11A |
ATPase phospholipid transporting 11A |
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ISO |
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OMIM |
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NCBI chr22:60,302,098...60,431,070
Ensembl chr22:60,302,309...60,428,080
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G |
TMEM43 |
transmembrane protein 43 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3 |
OMIM ClinVar |
PMID:18230648 PMID:20435227 PMID:21214875 PMID:21391237 PMID:21636032 PMID:23161701 PMID:23178689 PMID:23299917 PMID:23555315 PMID:23812740 PMID:23861362 PMID:24033266 PMID:25343256 PMID:25351510 PMID:25676813 PMID:25741868 PMID:25820315 PMID:26467025 PMID:26743238 PMID:26840987 PMID:28301460 PMID:28492532 PMID:29311375 PMID:30847666 PMID:31333075 PMID:31568572 PMID:32880476 PMID:33087929 PMID:34050020 PMID:35063694 PMID:37477868 More...
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NCBI chr20:4,281,815...4,298,634
Ensembl chr20:4,281,845...4,297,069
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G |
DNMT1 |
DNA methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy |
OMIM ClinVar |
PMID:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:17576681 PMID:21532572 PMID:22328086 PMID:23365052 PMID:25326637 PMID:25678562 PMID:25741868 PMID:28334952 PMID:28492532 PMID:30165906 PMID:31984424 More...
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NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
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G |
ATP6V1B2 |
ATPase H+ transporting V1 subunit B2 |
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ISO |
ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant |
OMIM ClinVar |
PMID:24913193 PMID:25741868 PMID:28396750 PMID:31581539 PMID:31655144 |
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NCBI chr25:36,833,246...36,858,846
Ensembl chr25:36,834,196...36,858,819
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G |
DSPP |
dentin sialophosphoprotein |
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ISO |
ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 |
OMIM ClinVar |
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 More...
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NCBI chr32:11,017,440...11,022,780
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G |
MYH14 |
myosin heavy chain 14 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 4 |
ClinVar |
PMID:15015131 PMID:15845534 PMID:16222661 PMID:20533261 PMID:23967202 PMID:24033266 PMID:24082139 PMID:25741868 PMID:26284702 PMID:26346818 PMID:26467025 PMID:27068579 PMID:27393652 PMID:27610647 PMID:28166811 PMID:28221712 PMID:28492532 PMID:30311386 PMID:30828794 PMID:31231018 PMID:31393079 PMID:34681017 More...
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NCBI chr 1:106,371,952...106,460,388
Ensembl chr 1:106,371,939...106,458,901
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G |
GJB2 |
gap junction protein beta 2 |
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ISO |
ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant |
OMIM ClinVar |
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 PMID:2956987 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:9856479 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11918723 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12064630 PMID:12072059 PMID:12081719 PMID:12111646 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12548749 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12673800 PMID:12684873 PMID:12746422 PMID:12752120 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12872268 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14643477 PMID:14691997 PMID:14694360 PMID:14700667 PMID:14722929 PMID:14735592 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15617546 PMID:15617550 PMID:15633193 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15769851 PMID:15790391 PMID:15832357 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16154643 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16650073 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16885744 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17330861 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17428836 PMID:17431919 PMID:17444514 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17576681 PMID:17581693 PMID:17660464 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18024254 PMID:18196482 PMID:18294064 PMID:18324688 PMID:18414213 PMID:18451998 PMID:18560174 PMID:18570691 PMID:18668259 PMID:18684989 PMID:18776652 PMID:18804553 PMID:18843290 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19384972 PMID:19465004 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19719946 PMID:19723508 PMID:19775242 PMID:19814620 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20101161 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20412116 PMID:20441744 PMID:20497192 PMID:20553101 PMID:20563649 PMID:20593197 PMID:20607074 PMID:20629838 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 PMID:20956747 PMID:20981092 PMID:21094084 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21292415 PMID:21298213 PMID:21298644 PMID:21366436 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21738759 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21836520 PMID:21844220 PMID:21910243 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22031297 PMID:22037723 PMID:22103400 PMID:22106692 PMID:22281373 PMID:22384008 PMID:22429511 PMID:22450542 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22574200 PMID:22592158 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23039283 PMID:23073770 PMID:23141775 PMID:23328711 PMID:23447037 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23695287 PMID:23757202 PMID:23797420 PMID:23804846 PMID:23826813 PMID:23873582 PMID:23900770 PMID:23924173 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 PMID:24507663 PMID:24529908 PMID:24551843 PMID:24611097 PMID:24645897 PMID:24654934 PMID:24737404 PMID:24762805 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25365227 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25575739 PMID:25587757 PMID:25625422 PMID:25628337 PMID:25636251 PMID:25637381 PMID:25692760 PMID:25708704 PMID:25741868 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26482070 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26763877 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27087580 PMID:27141831 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 PMID:27398341 PMID:27481527 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27761313 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884957 PMID:28008688 PMID:28012523 PMID:28222800 PMID:28271504 PMID:28383030 PMID:28405014 PMID:28428247 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28651654 PMID:28704896 PMID:28900111 PMID:29062245 PMID:29106882 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29625052 PMID:29773520 PMID:29871260 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30086704 PMID:30094485 PMID:30146550 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30466042 PMID:30589569 PMID:30693673 PMID:30828346 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31053783 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31195736 PMID:31346875 PMID:31370293 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31827275 PMID:31980526 PMID:31992338 PMID:32012697 PMID:32090102 PMID:32120898 PMID:32258544 PMID:32708339 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33187236 PMID:33333757 PMID:33524517 PMID:33597575 PMID:33614373 PMID:33928925 PMID:34008892 PMID:34062854 PMID:34161886 PMID:34335733 PMID:34440441 PMID:34515852 PMID:34581455 PMID:34652575 PMID:35016843 PMID:35336849 PMID:35396755 PMID:35864128 PMID:36474027 PMID:36672810 PMID:37239361 PMID:38730444 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 More...
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NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
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G |
ATOH1 |
atonal bHLH transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Dominant progressive sensorineural hearing loss |
ClinVar |
PMID:25741868 PMID:33111345 |
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NCBI chr32:16,807,217...16,809,294
Ensembl chr32:16,807,336...16,808,406
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G |
ATP2B2 |
ATPase plasma membrane Ca2+ transporting 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
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NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474
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G |
DIABLO |
diablo IAP-binding mitochondrial protein |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 |
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NCBI chr26:7,125,320...7,144,884
Ensembl chr26:7,125,405...7,144,308
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G |
GREB1L |
GREB1 like retinoic acid receptor coactivator |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 PMID:32585897 |
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NCBI chr 7:66,489,124...66,758,207
Ensembl chr 7:66,503,999...66,639,013
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G |
MITF |
melanocyte inducing transcription factor |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 |
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NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578
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G |
MYO6 |
myosin VI |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 |
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NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724
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G |
P2RX2 |
purinergic receptor P2X 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:30311386 |
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NCBI chr26:480,370...485,527
Ensembl chr26:482,425...485,502
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G |
PDE1C |
phosphodiesterase 1C |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:29860631 |
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NCBI chr14:44,250,612...44,543,818
Ensembl chr14:44,145,534...44,644,937
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G |
PLS1 |
plastin 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing impairment | ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:30872814 PMID:31397523 |
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NCBI chr23:38,243,631...38,347,195
Ensembl chr23:38,243,024...38,347,202
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G |
REST |
RE1 silencing transcription factor |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 PMID:34828371 |
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NCBI chr13:49,041,082...49,062,596
Ensembl chr13:49,041,047...49,059,388
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G |
SIX1 |
SIX homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 |
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NCBI chr 8:35,676,705...35,679,534
Ensembl chr 8:35,676,479...35,679,534
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G |
WFS1 |
wolframin ER transmembrane glycoprotein |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:11295831 PMID:12955714 PMID:16648378 PMID:17492394 PMID:17603484 PMID:18060660 PMID:18544103 PMID:19877185 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21143470 PMID:21538838 PMID:21602428 PMID:21917145 PMID:22238590 PMID:24033266 PMID:24890733 PMID:25250959 PMID:25741868 PMID:26346818 PMID:26435059 PMID:26467025 PMID:26875006 PMID:27395765 PMID:28432734 PMID:28492532 PMID:29447883 PMID:29529044 PMID:30311386 PMID:30577886 PMID:32567228 PMID:32645618 PMID:33098801 PMID:33841295 PMID:33879153 PMID:34387732 PMID:34416374 PMID:34440452 PMID:34573359 PMID:34758253 PMID:34997062 PMID:35810424 PMID:35872528 PMID:35982127 PMID:36284460 PMID:36330437 PMID:36933359 PMID:36958120 PMID:37041640 More...
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NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
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G |
DIAPH1 |
diaphanous related formin 1 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA | ClinVar Annotator: match by term: DIAPH1-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 1 | ClinVar Annotator: match by term: KONIGSMARK SYNDROME |
OMIM ClinVar |
PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 PMID:23804846 PMID:24033266 PMID:24781755 PMID:25342930 PMID:25558065 PMID:25640679 PMID:25741868 PMID:26011067 PMID:26463574 PMID:26467025 PMID:26912466 PMID:27707755 PMID:27808407 PMID:27911912 PMID:28492532 PMID:28815995 PMID:28983057 PMID:29758562 PMID:30311386 PMID:30896630 PMID:32678080 PMID:33176815 PMID:33229591 PMID:33662367 PMID:34125151 PMID:34279089 PMID:35307828 PMID:36118902 More...
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NCBI chr 2:36,483,781...36,581,390
Ensembl chr 2:36,485,571...36,581,320
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G |
ECSCR |
endothelial cell surface expressed chemotaxis and apoptosis regulator |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA |
ClinVar |
PMID:28492532 |
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NCBI chr 2:34,763,814...34,773,491
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G |
EIF4EBP3 |
eukaryotic translation initiation factor 4E binding protein 3 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA |
ClinVar |
PMID:28492532 |
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NCBI chr 2:35,742,811...35,744,749
Ensembl chr 2:35,618,282...35,744,734
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G |
EYA4 |
EYA transcriptional coactivator and phosphatase 4 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 10 | ClinVar Annotator: match by term: EYA4-Related Disorders |
OMIM ClinVar |
PMID:9536098 PMID:11159937 PMID:15735644 PMID:16199547 PMID:17567890 PMID:17568404 PMID:17576681 PMID:23861362 PMID:23990876 PMID:24033266 PMID:25681523 PMID:25741868 PMID:25781927 PMID:25963406 PMID:26084686 PMID:27068579 PMID:28492532 PMID:28798025 PMID:28831623 PMID:29030401 PMID:30165862 PMID:30311386 PMID:30828794 PMID:32107406 PMID:32277154 PMID:33745059 PMID:35802133 PMID:36633841 More...
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NCBI chr 1:26,208,514...26,514,601
Ensembl chr 1:26,272,448...26,514,201
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MYO7A |
myosin VIIA |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 11 |
OMIM ClinVar |
PMID:3130723 PMID:3442652 PMID:8900236 PMID:9002678 PMID:9354784 PMID:9382091 PMID:9536098 PMID:9718356 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10612833 PMID:10930322 PMID:12112664 PMID:15028842 PMID:15043528 PMID:15121790 PMID:15221449 PMID:15300860 PMID:15660226 PMID:15823922 PMID:16199547 PMID:16400615 PMID:16449806 PMID:16470552 PMID:16652077 PMID:16679490 PMID:16963483 PMID:17361009 PMID:17576681 PMID:17960123 PMID:18181211 PMID:18323324 PMID:18463160 PMID:18484607 PMID:18700726 PMID:19074810 PMID:19156839 PMID:19299023 PMID:19461658 PMID:19683999 PMID:20052763 PMID:20146813 PMID:20497194 PMID:20513143 PMID:20613545 PMID:21150918 PMID:21311020 PMID:21436283 PMID:21487335 PMID:21569298 PMID:21738395 PMID:21873662 PMID:22135276 PMID:22681893 PMID:22690115 PMID:22785243 PMID:23148716 PMID:23208854 PMID:23226338 PMID:23237960 PMID:23383098 PMID:23451214 PMID:23451239 PMID:23591405 PMID:23770805 PMID:23804846 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24199935 PMID:24498627 PMID:24618850 PMID:24831256 PMID:24853665 PMID:24875298 PMID:25080338 PMID:25211151 PMID:25262649 PMID:25333064 PMID:25342930 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25525159 PMID:25558175 PMID:25587757 PMID:25741868 PMID:25788563 PMID:25798947 PMID:26226137 PMID:26309859 PMID:26338283 PMID:26346818 PMID:26467025 PMID:26486028 PMID:26633542 PMID:26791358 PMID:26872967 PMID:26969326 PMID:27068579 PMID:27160483 PMID:27344577 PMID:27460420 PMID:27573290 PMID:27610647 PMID:27729122 PMID:27743452 PMID:27766948 PMID:27884173 PMID:27911912 PMID:27957503 PMID:28000701 PMID:28041643 PMID:28472130 PMID:28492532 PMID:28559085 PMID:28731162 PMID:28802369 PMID:28944237 PMID:29048421 PMID:29099798 PMID:29196752 PMID:29276601 PMID:29490346 PMID:29625443 PMID:29692870 PMID:30029497 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30337596 PMID:30459346 PMID:30718709 PMID:30828346 PMID:30872718 PMID:30881389 PMID:31152317 PMID:31266775 PMID:31456290 PMID:31479088 PMID:31589614 PMID:31816670 PMID:31847883 PMID:31964843 PMID:31980526 PMID:32097363 PMID:32467589 PMID:32483926 PMID:32531858 PMID:32581362 PMID:32681043 PMID:32795431 PMID:32981126 PMID:33105617 PMID:33111345 PMID:33187236 PMID:33297549 PMID:33363762 PMID:33576163 PMID:33576794 PMID:33623043 PMID:33710140 PMID:33724713 PMID:33976695 PMID:34148116 PMID:34194829 PMID:34416374 PMID:34426522 PMID:34652575 PMID:34837038 PMID:34948090 PMID:35085295 PMID:35453549 PMID:35640668 PMID:35802133 PMID:35982127 PMID:36011334 PMID:36147510 PMID:36460718 PMID:36555390 PMID:36633841 PMID:36672771 PMID:37466950 PMID:37727480 More...
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NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
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TECTA |
tectorin alpha |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12 |
OMIM ClinVar |
PMID:9536098 PMID:9590290 PMID:9949200 PMID:10196713 PMID:10987647 PMID:11087000 PMID:11333869 PMID:12021773 PMID:12162770 PMID:12746400 PMID:16199547 PMID:16718611 PMID:17431902 PMID:17576681 PMID:17661817 PMID:18575463 PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:22980975 PMID:23967202 PMID:24033266 PMID:24130743 PMID:24586623 PMID:25008054 PMID:25262649 PMID:25413827 PMID:25741868 PMID:26467025 PMID:27068579 PMID:27627659 PMID:27848944 PMID:28000701 PMID:28053790 PMID:28492532 PMID:28946916 PMID:29196752 PMID:29293505 PMID:30311386 PMID:30935366 PMID:31163360 PMID:31554319 PMID:32747562 PMID:32853555 PMID:33111345 PMID:33297549 PMID:34008892 PMID:34325055 PMID:34795337 More...
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NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147
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COL11A2 |
collagen type XI alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 13 |
OMIM ClinVar |
PMID:10581026 PMID:10677296 PMID:15372529 PMID:15558753 PMID:16033917 PMID:21204229 PMID:23967202 PMID:24033266 PMID:25633957 PMID:25741868 PMID:26969326 PMID:28492532 PMID:29907799 PMID:33105617 PMID:35741851 PMID:35802133 PMID:36633841 More...
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NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814
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POU4F3 |
POU class 4 homeobox 3 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 52 | ClinVar Annotator: match by term: Deafness, autosomal dominant 15 | ClinVar Annotator: match by term: POU4F3-related condition |
OMIM ClinVar |
PMID:9506947 PMID:12522684 PMID:14585957 PMID:18228599 PMID:19462854 PMID:20434433 PMID:24033266 PMID:24260153 PMID:25741868 PMID:26467025 PMID:27535032 PMID:28492532 PMID:29850532 PMID:30311386 PMID:32684921 PMID:32747562 PMID:34250087 PMID:37537203 More...
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NCBI chr 2:40,762,499...40,764,131
Ensembl chr 2:40,762,477...40,765,161
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STRC |
stereocilin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 16 |
ClinVar |
PMID:22147502 PMID:24033266 PMID:25741868 PMID:26969326 |
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NCBI chr30:10,444,726...10,459,058
Ensembl chr30:10,444,793...10,460,785
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G |
TECTA |
tectorin alpha |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 16 |
ClinVar |
PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 PMID:24586623 PMID:25741868 PMID:27627659 PMID:28000701 PMID:28492532 PMID:31163360 PMID:31554319 PMID:32853555 More...
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NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147
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MYH9 |
myosin heavy chain 9 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration |
OMIM ClinVar |
PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:10603121 PMID:10973259 PMID:10973260 PMID:11023810 PMID:11159552 PMID:11590545 PMID:11752022 PMID:11776386 PMID:11935325 PMID:12533692 PMID:12621333 PMID:12649151 PMID:12792306 PMID:15339844 PMID:16098078 PMID:16162639 PMID:16818291 PMID:16969870 PMID:17146397 PMID:17655694 PMID:18059020 PMID:18330899 PMID:18676005 PMID:19408192 PMID:19557653 PMID:19572073 PMID:20002731 PMID:20221761 PMID:20301740 PMID:20416459 PMID:20588287 PMID:21542825 PMID:21908426 PMID:22123909 PMID:22477015 PMID:22627578 PMID:22995991 PMID:23144074 PMID:23207509 PMID:23349334 PMID:23409987 PMID:23804846 PMID:24033266 PMID:24130771 PMID:24186861 PMID:24643058 PMID:24890873 PMID:25077172 PMID:25505834 PMID:25741868 PMID:25752595 PMID:25752999 PMID:25949529 PMID:26056797 PMID:26226608 PMID:26346198 PMID:26387855 PMID:26467025 PMID:26942920 PMID:26969326 PMID:27068579 PMID:28059092 PMID:28492532 PMID:29090586 PMID:29451856 PMID:29532554 PMID:29782633 PMID:29907799 PMID:30245029 PMID:30311386 PMID:30471777 PMID:30556268 PMID:30712057 PMID:30720677 PMID:30916803 PMID:31064749 PMID:32100410 PMID:32315395 PMID:32545517 PMID:32604935 PMID:32757236 PMID:33532864 PMID:33710140 PMID:33855781 PMID:34310475 PMID:34355501 PMID:35584211 PMID:36100708 PMID:36646731 PMID:38650331 More...
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NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953
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ACTG1 |
actin gamma 1 |
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ISO |
ClinVar Annotator: match by term: ACTG1-related disorder | ClinVar Annotator: match by term: Deafness, autosomal dominant 20 |
OMIM ClinVar |
PMID:5654493 PMID:9536098 PMID:12519370 PMID:13680526 PMID:14684684 PMID:16773128 PMID:17576681 PMID:18414213 PMID:19419963 PMID:19477959 PMID:19548389 PMID:20301607 PMID:22200607 PMID:22366783 PMID:23506231 PMID:24033266 PMID:25052316 PMID:25741868 PMID:25792668 PMID:26188271 PMID:26467025 PMID:27240540 PMID:28000701 PMID:28492532 PMID:29196752 PMID:29357087 PMID:29620237 PMID:29671837 PMID:29907799 PMID:29986705 PMID:30008475 PMID:30311386 PMID:30622556 PMID:31116477 PMID:31231230 PMID:32028042 PMID:32341388 PMID:33584783 PMID:33604570 PMID:34448047 PMID:35802133 PMID:36633841 More...
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NCBI chr 9:635,978...638,328
Ensembl chr 9:635,978...638,328
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RIPOR2 |
RHO family interacting cell polarization regulator 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 21 |
OMIM ClinVar |
PMID:10764236 PMID:25741868 PMID:28492532 PMID:32631815 |
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NCBI chr35:22,823,053...23,041,765
Ensembl chr35:22,824,106...23,041,743
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BIN1 |
bridging integrator 1 |
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ISO |
ClinVar Annotator: match by term: DFNA 22 |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr19:23,503,934...23,534,407
Ensembl chr19:23,375,363...23,534,303
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MYO6 |
myosin VI |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DFNA 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 22 |
OMIM ClinVar |
PMID:9536098 PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 PMID:16199547 PMID:17576681 PMID:18212818 PMID:18348273 PMID:23767834 PMID:24033266 PMID:24123366 PMID:25080041 PMID:25741868 PMID:25741877 PMID:25999546 PMID:26445815 PMID:26467025 PMID:26969326 PMID:26971995 PMID:28492532 PMID:28501645 PMID:29224747 PMID:30311386 PMID:30582396 PMID:31589614 PMID:32143290 PMID:32747562 PMID:33279834 PMID:33297549 PMID:33724713 PMID:35802133 PMID:35982127 PMID:36633841 PMID:36788145 More...
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NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724
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SIX1 |
SIX homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 23 |
OMIM ClinVar |
PMID:10777717 PMID:12843324 PMID:15141091 PMID:16652090 PMID:16971658 PMID:19497856 PMID:21254961 PMID:21280147 PMID:21700001 PMID:23435380 PMID:24033266 PMID:25326635 PMID:25741868 PMID:25788563 PMID:28492532 PMID:30311386 PMID:35802133 PMID:36633841 More...
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NCBI chr 8:35,676,705...35,679,534
Ensembl chr 8:35,676,479...35,679,534
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SLC17A8 |
solute carrier family 17 member 8 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 25 | ClinVar Annotator: match by term: SLC17A8-related condition |
OMIM ClinVar |
PMID:11115382 PMID:18674745 PMID:23967202 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26797701 PMID:28492532 PMID:33229591 More...
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NCBI chr15:39,443,790...39,489,988
Ensembl chr15:39,443,518...39,486,595
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G |
TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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ISO |
OMIM:605583 |
MouseDO |
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NCBI chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165
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REST |
RE1 silencing transcription factor |
susceptibility |
ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 27 |
ClinVar OMIM |
PMID:25741868 PMID:28492532 PMID:29961578 PMID:34828371 |
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NCBI chr13:49,041,082...49,062,596
Ensembl chr13:49,041,047...49,059,388
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GRHL2 |
grainyhead like transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 28 |
OMIM ClinVar |
PMID:12393799 PMID:23813623 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr13:3,204,898...3,362,533
Ensembl chr13:3,204,925...3,362,096
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KCNQ4 |
potassium voltage-gated channel subfamily Q member 4 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: DFNA 2 Nonsyndromic Hearing Loss | ClinVar Annotator: match by term: Deafness, autosomal dominant 2A | ClinVar Annotator: match by term: KCNQ4-related condition |
OMIM ClinVar |
PMID:8035838 PMID:9126484 PMID:9536098 PMID:10025409 PMID:10369879 PMID:10571947 PMID:10925378 PMID:11450843 PMID:11915881 PMID:12112653 PMID:15699719 PMID:16596322 PMID:17576681 PMID:18030493 PMID:18786918 PMID:18797286 PMID:18941426 PMID:20301388 PMID:20832469 PMID:20966080 PMID:21242547 PMID:21951272 PMID:22384008 PMID:22420747 PMID:23451214 PMID:23717403 PMID:23750663 PMID:24033266 PMID:25116015 PMID:25741868 PMID:26036578 PMID:26467025 PMID:26515070 PMID:27068579 PMID:28492532 PMID:30311386 PMID:30413759 PMID:31028865 PMID:31995783 PMID:32382995 PMID:34622280 More...
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NCBI chr15:2,203,938...2,257,152
Ensembl chr15:2,205,276...2,242,093
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GJB3 |
gap junction protein beta 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 2b |
OMIM ClinVar |
PMID:9843210 PMID:12019212 PMID:16077902 PMID:19050930 PMID:21204020 PMID:23638949 PMID:24033266 PMID:25214170 PMID:25741868 PMID:28492532 PMID:29106878 PMID:31564438 PMID:32645618 More...
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NCBI chr15:7,175,010...7,177,145
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G |
MYO3A |
myosin IIIA |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 30 |
ClinVar |
PMID:32519820 |
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NCBI chr 2:7,455,125...7,695,483
Ensembl chr 2:7,455,625...7,696,043
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G |
ATP11A |
ATPase phospholipid transporting 11A |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 33 |
ClinVar |
PMID:25741868 PMID:30311386 PMID:35278131 |
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NCBI chr22:60,302,098...60,431,070
Ensembl chr22:60,302,309...60,428,080
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G |
COL11A2 |
collagen type XI alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 33 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814
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NLRP3 |
NLR family pyrin domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammation |
OMIM ClinVar |
PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 PMID:15593220 PMID:17038455 PMID:17213252 PMID:17393462 PMID:20159265 PMID:21810457 PMID:22566169 PMID:23421920 PMID:24033266 PMID:24123366 PMID:24135410 PMID:25038238 PMID:25596455 PMID:25741868 PMID:26020059 PMID:26467025 PMID:26531310 PMID:27612399 PMID:27994174 PMID:28492532 PMID:28692792 PMID:28847925 PMID:29159471 PMID:29922587 PMID:30407166 PMID:30808881 PMID:33329557 More...
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NCBI chr 8:251,776...313,290
Ensembl chr 8:253,407...313,059
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G |
TMC1 |
transmembrane channel like 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 36 | ClinVar Annotator: match by term: TMC1-related condition |
OMIM ClinVar |
PMID:9536098 PMID:11850618 PMID:15354000 PMID:16134132 PMID:16199547 PMID:16287143 PMID:17250663 PMID:17576681 PMID:17877751 PMID:18414213 PMID:18616530 PMID:19180119 PMID:19187973 PMID:20373850 PMID:21250555 PMID:21252500 PMID:22105175 PMID:22607986 PMID:23208854 PMID:23767834 PMID:24033266 PMID:24416283 PMID:24827932 PMID:24949729 PMID:25074487 PMID:25388789 PMID:25741868 PMID:26011067 PMID:26467025 PMID:28492532 PMID:28501645 PMID:29196752 PMID:29533536 PMID:30303587 PMID:30311386 PMID:30896630 PMID:31028865 PMID:31541171 PMID:31854501 PMID:32747562 PMID:33095980 PMID:33168709 PMID:33524517 PMID:33724713 PMID:34523024 PMID:35407445 PMID:38066485 More...
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NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369
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USH2A |
usherin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 36 |
ClinVar |
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NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
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G |
COL11A1 |
collagen type XI alpha 1 chain |
susceptibility |
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 37 |
ClinVar OMIM |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17999364 PMID:20513134 PMID:21035103 PMID:23922384 PMID:25240749 PMID:25741868 PMID:26377240 PMID:28315471 PMID:28492532 PMID:30245514 PMID:30311386 PMID:32381727 PMID:32427345 PMID:32578940 PMID:32756486 PMID:33169910 PMID:33605226 More...
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NCBI chr 6:47,425,387...47,622,189
Ensembl chr 6:47,425,307...47,621,012
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G |
GJB2 |
gap junction protein beta 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3a |
OMIM ClinVar |
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 PMID:2706105 PMID:2956987 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:9856479 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID:10369869 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10704187 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10807696 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10980526 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11179004 PMID:11216656 PMID:11298683 PMID:11313751 PMID:11313763 PMID:11354642 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12064630 PMID:12081719 PMID:12111646 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12372058 PMID:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12457340 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12668604 PMID:12673800 PMID:12684873 PMID:12700168 PMID:12746422 PMID:12786758 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12872268 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14643477 PMID:14676473 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14978038 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15617546 PMID:15617550 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15757815 PMID:15790391 PMID:15832357 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:15996214 PMID:16059934 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16154643 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16645853 PMID:16650073 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16931589 PMID:16945493 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17309986 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17431919 PMID:17444514 PMID:17462767 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17567887 PMID:17576681 PMID:17581693 PMID:17660464 PMID:17661817 PMID:17666888 PMID:17671735 PMID:17935238 PMID:17993581 PMID:18196482 PMID:18294064 PMID:18316665 PMID:18324688 PMID:18353197 PMID:18414213 PMID:18451998 PMID:18472371 PMID:18560174 PMID:18570691 PMID:18607988 PMID:18668259 PMID:18684989 PMID:18688874 PMID:18758381 PMID:18776652 PMID:18793701 PMID:18804553 PMID:18924167 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19101659 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19274344 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19384972 PMID:19465004 PMID:19567088 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19718752 PMID:19719946 PMID:19723508 PMID:19744334 PMID:19775242 PMID:19814620 PMID:19877196 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20031451 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20096356 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20441744 PMID:20442751 PMID:20497192 PMID:20553101 PMID:20563649 PMID:20593197 PMID:20607074 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20854437 PMID:20863150 PMID:20890442 PMID:20937258 PMID:20956747 PMID:20981092 PMID:21040787 PMID:21055240 PMID:21094084 PMID:21094651 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21298213 PMID:21298644 PMID:21366436 PMID:21388256 PMID:21392827 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21484990 PMID:21488715 PMID:21510145 PMID:21557232 PMID:21738759 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21836520 PMID:21844220 PMID:21868108 PMID:21910243 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22037723 PMID:22103400 PMID:22106692 PMID:22208444 PMID:22281373 PMID:22384008 PMID:22389666 PMID:22429511 PMID:22450542 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22567861 PMID:22574200 PMID:22592158 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22704424 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23039283 PMID:23073770 PMID:23141775 PMID:23266159 PMID:23328711 PMID:23451214 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23684175 PMID:23695287 PMID:23757202 PMID:23804846 PMID:23826813 PMID:23856378 PMID:23873582 PMID:23900770 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24158896 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 PMID:24372583 PMID:24387126 PMID:24507663 PMID:24529908 PMID:24551843 PMID:24596593 PMID:24611097 PMID:24612839 PMID:24645897 PMID:24654934 PMID:24706568 PMID:24737404 PMID:24762805 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24840842 PMID:24941117 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25153233 PMID:25162826 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25365227 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25587757 PMID:25625422 PMID:25628337 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25752103 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26397989 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26482070 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26763877 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27153395 PMID:27169813 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 PMID:27316387 PMID:27398341 PMID:27481527 PMID:27501294 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884173 PMID:27884957 PMID:28008688 PMID:28012523 PMID:28222800 PMID:28263784 PMID:28271504 PMID:28383030 PMID:28405014 PMID:28428247 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28640090 PMID:28651654 PMID:28704896 PMID:28900111 PMID:29062245 PMID:29106882 PMID:29140768 PMID:29148562 PMID:29196752 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29605365 PMID:29625052 PMID:29773520 PMID:29871260 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30068397 PMID:30086704 PMID:30094485 PMID:30146550 PMID:30168495 PMID:30245029 PMID:30275481 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30466042 PMID:30589569 PMID:30693673 PMID:30762455 PMID:30828346 PMID:30872814 PMID:30896630 PMID:30989077 PMID:31035178 PMID:31053783 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31195736 PMID:31346875 PMID:31370293 PMID:31379920 PMID:31419744 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31827275 PMID:31911633 PMID:31980526 PMID:31992338 PMID:32012697 PMID:32067424 PMID:32090102 PMID:32258544 PMID:32355288 PMID:32455934 PMID:32645618 PMID:32708339 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33187236 PMID:33333757 PMID:33524517 PMID:33597575 PMID:33614373 PMID:33928925 PMID:34062854 PMID:34161886 PMID:34276761 PMID:34335733 PMID:34403091 PMID:34440441 PMID:34515852 PMID:34581455 PMID:34652575 PMID:35016843 PMID:35182233 PMID:35301649 PMID:35336849 PMID:35396755 PMID:35864128 PMID:36048236 PMID:36474027 PMID:36672810 PMID:36788145 PMID:37239361 PMID:38730444 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 More...
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NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
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G |
GJB4 |
gap junction protein beta 4 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3a |
ClinVar |
PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532 |
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NCBI chr15:7,193,183...7,195,586
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G |
CRYL1 |
crystallin lambda 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:27480936 PMID:28492532 |
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NCBI chr25:17,551,586...17,733,754
Ensembl chr25:17,562,926...17,733,630
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G |
EEF1AKMT1 |
EEF1A lysine methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr25:17,357,251...17,382,098
Ensembl chr25:17,357,328...17,381,821
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G |
GJA3 |
gap junction protein alpha 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr25:17,986,270...18,004,344
Ensembl chr25:18,002,817...18,004,160
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G |
GJB2 |
gap junction protein beta 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
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G |
GJB6 |
gap junction protein beta 6 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
OMIM ClinVar |
PMID:10471490 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 PMID:12419304 PMID:12788524 PMID:14708603 PMID:15213106 PMID:15769851 PMID:16547895 PMID:16950989 PMID:17160938 PMID:17259707 PMID:17666888 PMID:19723508 PMID:20536673 PMID:20858605 PMID:21731760 PMID:22106692 PMID:22617145 PMID:23219093 PMID:23757202 PMID:23863883 PMID:23926005 PMID:23981984 PMID:24033266 PMID:24052723 PMID:24514865 PMID:24522190 PMID:24685692 PMID:25214170 PMID:25262649 PMID:25741868 PMID:26551294 PMID:27068579 PMID:27137747 PMID:27480936 PMID:27817781 PMID:28492532 PMID:29739340 PMID:29771057 PMID:30311386 PMID:30620052 PMID:31015822 PMID:31589614 PMID:35062939 PMID:36926140 More...
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NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605
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G |
IFT88 |
intraflagellar transport 88 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr25:17,414,965...17,551,405
Ensembl chr25:17,414,965...17,551,266
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G |
IL17D |
interleukin 17D |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr25:17,386,815...17,390,315
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G |
XPO4 |
exportin 4 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr25:17,230,401...17,352,600
Ensembl chr25:17,230,031...17,348,031
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G |
CRYM |
crystallin mu |
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ISO |
ClinVar Annotator: match by term: CRYM-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 40 |
OMIM ClinVar |
PMID:12471561 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 6:24,187,073...24,204,304
Ensembl chr 6:24,187,121...24,204,304
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G |
P2RX2 |
purinergic receptor P2X 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 41 | ClinVar Annotator: match by term: P2RX2-related condition |
OMIM ClinVar |
PMID:12161595 PMID:23345450 PMID:24033266 PMID:24211385 PMID:25741868 PMID:25788561 PMID:26467025 PMID:28492532 PMID:31636190 More...
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NCBI chr26:480,370...485,527
Ensembl chr26:482,425...485,502
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G |
CCDC50 |
coiled-coil domain containing 50 |
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ISO |
ClinVar Annotator: match by term: CCDC50-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 44 |
OMIM ClinVar |
PMID:12483295 PMID:17503326 PMID:24033266 PMID:24875298 PMID:25741868 PMID:28492532 PMID:30311386 More...
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NCBI chr34:23,168,594...23,243,221
Ensembl chr34:23,168,525...23,258,497
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G |
MYO1A |
myosin IA |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 48 |
ClinVar |
PMID:12736868 PMID:24033266 PMID:24616153 PMID:25741868 |
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NCBI chr10:1,159,816...1,194,452
Ensembl chr10:1,159,812...1,193,153
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G |
CEACAM16 |
CEA cell adhesion molecule 16, tectorial membrane component |
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ISO |
OMIM:600652 |
MouseDO |
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NCBI chr 1:110,652,362...110,661,173
Ensembl chr 1:110,652,584...110,660,334
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G |
MYH14 |
myosin heavy chain 14 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 4A | ClinVar Annotator: match by term: Deafness, autosomal dominant 4A | ClinVar Annotator: match by term: MYH14-related condition |
OMIM ClinVar |
PMID:15015131 PMID:15845534 PMID:16222661 PMID:20533261 PMID:23967202 PMID:24033266 PMID:24082139 PMID:25741868 PMID:26284702 PMID:26346818 PMID:26467025 PMID:27068579 PMID:27393652 PMID:27610647 PMID:28166811 PMID:28221712 PMID:28492532 PMID:30311386 PMID:30828794 PMID:31231018 PMID:31393079 PMID:34681017 More...
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NCBI chr 1:106,371,952...106,460,388
Ensembl chr 1:106,371,939...106,458,901
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G |
CEACAM16 |
CEA cell adhesion molecule 16, tectorial membrane component |
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ISO |
ClinVar Annotator: match by term: CEACAM16-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 4b |
OMIM ClinVar |
PMID:7655461 PMID:21368133 PMID:24033266 PMID:25589040 PMID:25741868 PMID:28492532 PMID:30311386 PMID:35802133 PMID:36633841 More...
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NCBI chr 1:110,652,362...110,661,173
Ensembl chr 1:110,652,584...110,660,334
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G |
GSDME |
gasdermin E |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 5 | ClinVar Annotator: match by term: GSDME-related condition |
OMIM ClinVar |
PMID:7427029 PMID:9536098 PMID:14676472 PMID:15173223 PMID:17427029 PMID:17576681 PMID:17868390 PMID:24033266 PMID:24164807 PMID:25741868 PMID:28492532 PMID:29266521 PMID:29849037 PMID:30311386 PMID:34906502 PMID:35114279 More...
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NCBI chr14:38,210,975...38,286,729
Ensembl chr14:38,211,540...38,292,280
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G |
MIR96 |
microRNA mir-96 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 50 | ClinVar Annotator: match by term: MIR96-related condition |
OMIM ClinVar |
PMID:14757864 PMID:19363479 PMID:24033266 |
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NCBI chr14:7,068,754...7,068,842
Ensembl chr14:7,068,754...7,068,842
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G |
TJP2 |
tight junction protein 2 |
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ISO |
ClinVar Annotator: match by term: CHROMOSOME 9q21.11 DUPLICATION SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 51 |
ClinVar |
PMID:20602916 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28924228 PMID:29238877 More...
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NCBI chr 1:88,126,134...88,251,018
Ensembl chr 1:88,126,136...88,230,654
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G |
PAPPA |
pappalysin 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 56 |
ClinVar |
PMID:21681106 PMID:23936043 |
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NCBI chr11:69,979,295...70,220,256
Ensembl chr11:69,982,268...70,219,550
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G |
TNC |
tenascin C |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 56 | ClinVar Annotator: match by term: TNC-related condition |
OMIM ClinVar |
PMID:21681106 PMID:23936043 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29531218 PMID:30311386 PMID:31190668 PMID:36597107 More...
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NCBI chr11:69,077,532...69,169,673
Ensembl chr11:69,077,535...69,170,281
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G |
TNFSF8 |
TNF superfamily member 8 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 56 |
ClinVar |
PMID:21681106 PMID:23936043 |
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NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355
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G |
CNRIP1 |
cannabinoid receptor interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr10:67,340,452...67,358,927
Ensembl chr10:67,340,604...67,357,360
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G |
PLEK |
pleckstrin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr10:67,395,972...67,421,247
Ensembl chr10:67,395,972...67,421,247
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G |
PPP3R1 |
protein phosphatase 3 regulatory subunit B, alpha |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr10:67,242,552...67,308,469
Ensembl chr10:67,244,329...67,275,487
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G |
WFS1 |
wolframin ER transmembrane glycoprotein |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38 |
OMIM ClinVar |
PMID:3126496 PMID:3442652 PMID:3478949 PMID:9536098 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10624825 PMID:10679252 PMID:10760554 PMID:11161832 PMID:11244483 PMID:11295831 PMID:11317350 PMID:11694551 PMID:11709537 PMID:11709538 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12490066 PMID:12565131 PMID:12707188 PMID:12754709 PMID:12782971 PMID:12955714 PMID:15008830 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:15852062 PMID:15912360 PMID:16151413 PMID:16408729 PMID:16648378 PMID:16806192 PMID:17492394 PMID:17517145 PMID:17568405 PMID:17576681 PMID:17603484 PMID:18040659 PMID:18060660 PMID:18414213 PMID:18544103 PMID:18688868 PMID:18806274 PMID:19042979 PMID:19292454 PMID:19877185 PMID:20028947 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21127832 PMID:21143470 PMID:21446023 PMID:21538838 PMID:21602428 PMID:21917145 PMID:22238590 PMID:22938506 PMID:23257691 PMID:23373429 PMID:23429432 PMID:23535966 PMID:23595122 PMID:23845777 PMID:23856252 PMID:23981289 PMID:23990876 PMID:24033266 PMID:24875298 PMID:24890733 PMID:24909696 PMID:25133958 PMID:25211237 PMID:25262649 PMID:25326637 PMID:25388789 PMID:25392243 PMID:25497598 PMID:25714468 PMID:25741868 PMID:25842391 PMID:25895475 PMID:26025012 PMID:26064370 PMID:26284228 PMID:26346818 PMID:26435059 PMID:26467025 PMID:26875006 PMID:26969326 PMID:27068579 PMID:27167055 PMID:27185633 PMID:27395765 PMID:27617222 PMID:27911912 PMID:27959697 PMID:28432734 PMID:28492532 PMID:28559085 PMID:28802351 PMID:28870582 PMID:28974383 PMID:28993341 PMID:29529044 PMID:29549887 PMID:29563951 PMID:29632382 PMID:29988211 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30476936 PMID:30577886 PMID:30773290 PMID:30872718 PMID:31264968 PMID:31313226 PMID:31343797 PMID:31363008 PMID:31391115 PMID:31521625 PMID:31567480 PMID:31589614 PMID:31600780 PMID:31765440 PMID:31850070 PMID:31980526 PMID:32219690 PMID:32350710 PMID:32567228 PMID:32645618 PMID:32883240 PMID:33046911 PMID:33098801 PMID:33841295 PMID:33879153 PMID:33980734 PMID:34258273 PMID:34356170 PMID:34416374 PMID:34426522 PMID:34440452 PMID:34445196 PMID:34556497 PMID:34573359 PMID:34737607 PMID:34746052 PMID:34758253 PMID:34789499 PMID:34803393 PMID:34837038 PMID:34997062 PMID:35206658 PMID:35452662 PMID:35469785 PMID:35472603 PMID:35602877 PMID:35872528 PMID:36098976 PMID:36147510 PMID:36208030 PMID:36227502 PMID:36284460 PMID:36330437 PMID:36597107 PMID:36729443 PMID:36933359 PMID:37041640 PMID:37337769 PMID:37508961 PMID:37510321 More...
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NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
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B3GNT4 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 |
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ISO |
ClinVar Annotator: match by term: DIABLO-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 64 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr26:7,145,120...7,147,732
Ensembl chr26:7,145,262...7,146,335
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DIABLO |
diablo IAP-binding mitochondrial protein |
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ISO |
ClinVar Annotator: match by term: DIABLO-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 64 |
OMIM ClinVar |
PMID:21722859 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr26:7,125,320...7,144,884
Ensembl chr26:7,125,405...7,144,308
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CCNF |
cyclin F |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 65 |
ClinVar |
PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:28951997 PMID:29358611 More...
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NCBI chr 6:38,572,883...38,592,465
Ensembl chr 6:38,574,234...38,592,435
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TBC1D24 |
TBC1 domain family member 24 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 65 |
OMIM ClinVar |
PMID:16199547 PMID:18414213 PMID:22277662 PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:24729539 PMID:24729547 PMID:24848745 PMID:25169651 PMID:25557349 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:27502353 PMID:27669036 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28663785 PMID:28726039 PMID:28951997 PMID:29100083 PMID:29358611 PMID:30108545 PMID:30180405 PMID:30311386 PMID:30335140 PMID:30680869 PMID:30776697 PMID:31112829 PMID:31216405 PMID:31257402 PMID:31618474 PMID:31780880 PMID:32004315 PMID:33063868 PMID:33281559 PMID:33619735 PMID:33986365 PMID:35350397 More...
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NCBI chr 6:38,531,547...38,557,472
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CD164 |
CD164 molecule |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 66 | ClinVar Annotator: match by term: CD164-related condition |
OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:26197441 PMID:28492532 |
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NCBI chr12:66,295,444...66,309,691
Ensembl chr12:66,297,248...66,310,186
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OSBPL2 |
oxysterol binding protein like 2 |
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ISO |
OMIM:616340 |
MouseDO |
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NCBI chr24:46,268,498...46,299,407
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C3H15orf40 |
chromosome 3 C15orf40 homolog |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 68 | ClinVar Annotator: match by term: HOMER2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:25816005 PMID:26467025 PMID:28492532 PMID:30047143 |
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NCBI chr 3:54,788,092...54,793,197
Ensembl chr 3:54,657,075...54,794,206
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KITLG |
KIT ligand |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 69 | ClinVar Annotator: match by term: Deafness, autosomal dominant 69, unilateral or asymmetric |
OMIM ClinVar |
PMID:16199547 PMID:25741868 PMID:26522471 PMID:28492532 PMID:33229591 |
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NCBI chr15:29,591,068...29,671,985
Ensembl chr15:29,591,170...29,671,974
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LMX1A |
LIM homeobox transcription factor 1 alpha |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 7 | ClinVar Annotator: match by term: LMX1A-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29754270 PMID:32840933 PMID:35711095 PMID:36140227 More...
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NCBI chr38:17,958,366...18,111,155
Ensembl chr38:17,956,961...18,109,049
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MCM2 |
minichromosome maintenance complex component 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 70 | ClinVar Annotator: match by term: MCM2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26196677 PMID:26467025 PMID:28492532 PMID:29706348 |
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NCBI chr20:1,682,928...1,702,689
Ensembl chr20:1,682,886...1,702,366
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DMXL2 |
Dmx like 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 71 |
OMIM ClinVar |
PMID:25741868 PMID:27657680 PMID:28492532 PMID:33715530 PMID:35802133 PMID:36633841 More...
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NCBI chr30:17,156,077...17,308,641
Ensembl chr30:17,156,791...17,308,803
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SLC44A4 |
solute carrier family 44 member 4 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 72 | ClinVar Annotator: match by term: SLC44A4-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28013291 PMID:28492532 |
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NCBI chr12:1,328,276...1,340,752
Ensembl chr12:1,328,399...1,340,778
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PTPRQ |
protein tyrosine phosphatase receptor type Q |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 73 | ClinVar Annotator: match by term: PTPRQ-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26467025 PMID:29309402 PMID:30311386 PMID:31655630 |
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NCBI chr15:22,771,653...23,017,694
Ensembl chr15:22,825,348...23,013,762
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PDE1C |
phosphodiesterase 1C |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 74 | ClinVar Annotator: match by term: PDE1C-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29860631 |
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NCBI chr14:44,250,612...44,543,818
Ensembl chr14:44,145,534...44,644,937
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TRRAP |
transformation/transcription domain associated protein |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 75 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31231791 |
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NCBI chr 6:10,519,734...10,635,175
Ensembl chr 6:10,519,711...10,632,776
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PLS1 |
plastin 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 76 | ClinVar Annotator: match by term: PLS1-related condition |
OMIM ClinVar |
PMID:25124451 PMID:25741868 PMID:28492532 PMID:30872814 PMID:31397523 PMID:31432506 PMID:36537221 More...
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NCBI chr23:38,243,631...38,347,195
Ensembl chr23:38,243,024...38,347,202
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ABCC1 |
ATP binding cassette subfamily C member 1 |
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ISO |
ClinVar Annotator: match by term: ABCC1-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 77 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31273342 |
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NCBI chr 6:27,855,702...27,950,140
Ensembl chr 6:27,855,702...27,989,331
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SLC12A2 |
solute carrier family 12 member 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 78 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30740830 PMID:32294086 PMID:32658972 PMID:32754646 PMID:34226616 More...
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NCBI chr11:17,143,943...17,256,248
Ensembl chr11:17,143,943...17,253,695
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SCD5 |
stearoyl-CoA desaturase 5 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 79 |
OMIM ClinVar |
PMID:31972369 |
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NCBI chr32:6,594,607...6,745,379
Ensembl chr32:6,595,424...6,745,308
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GREB1L |
GREB1 like retinoic acid receptor coactivator |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 80 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29100090 PMID:29955957 PMID:32378186 PMID:32585897 More...
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NCBI chr 7:66,489,124...66,758,207
Ensembl chr 7:66,503,999...66,639,013
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MYO7A |
myosin VIIA |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 80 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
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ELMOD3 |
ELMO domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 81 | ClinVar Annotator: match by term: ELMOD3-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29713870 |
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NCBI chr17:39,642,101...39,668,079
Ensembl chr17:39,643,676...39,665,726
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ATP2B2 |
ATPase plasma membrane Ca2+ transporting 2 |
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ISO |
ClinVar Annotator: match by term: ATP2B2-related Progressive hearing impairment | ClinVar Annotator: match by term: Deafness, autosomal dominant 82 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30535804 |
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NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474
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MAP1B |
microtubule associated protein 1B |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 83 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:33268592 |
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NCBI chr 2:55,175,000...55,258,160
Ensembl chr 2:55,174,837...55,253,975
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ATP11A |
ATPase phospholipid transporting 11A |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 84 |
ClinVar OMIM |
PMID:25741868 PMID:30311386 PMID:35278131 |
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NCBI chr22:60,302,098...60,431,070
Ensembl chr22:60,302,309...60,428,080
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USP48 |
ubiquitin specific peptidase 48 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 85 |
OMIM ClinVar |
PMID:25741868 PMID:34059922 |
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NCBI chr 2:77,401,101...77,484,139
Ensembl chr 2:77,379,440...77,484,089
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THOC1 |
THO complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 86 |
ClinVar OMIM |
PMID:32776944 |
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NCBI chr 7:67,082,100...67,136,592
Ensembl chr 7:67,082,231...67,136,525
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PI4KB |
phosphatidylinositol 4-kinase beta |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 87 | ClinVar Annotator: match by term: PI4KB-related condition |
ClinVar OMIM |
PMID:33358777 |
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NCBI chr17:60,359,545...60,386,093
Ensembl chr17:60,360,236...60,384,778
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EPHA10 |
EPH receptor A10 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 88 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr15:4,756,136...4,789,494
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ATOH1 |
atonal bHLH transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: ATOH1-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 89 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:33111345 |
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NCBI chr32:16,807,217...16,809,294
Ensembl chr32:16,807,336...16,808,406
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COCH |
cochlin |
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ISO |
ClinVar Annotator: match by term: COCH-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 9 |
OMIM ClinVar |
PMID:8817345 PMID:9806553 PMID:9931344 PMID:10400989 PMID:11332404 PMID:12928864 PMID:14512963 PMID:16078052 PMID:16151338 PMID:16151339 PMID:16261627 PMID:16481359 PMID:17368553 PMID:18312449 PMID:18697796 PMID:19161137 PMID:20228067 PMID:20447147 PMID:21046548 PMID:21073934 PMID:22534022 PMID:24033266 PMID:24662630 PMID:25049087 PMID:25230692 PMID:25741868 PMID:25780252 PMID:26256111 PMID:26467025 PMID:28492532 PMID:28733840 PMID:30311386 PMID:32562050 PMID:35901072 More...
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NCBI chr 8:10,215,101...10,230,017
Ensembl chr 8:10,214,536...10,233,550
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MYO3A |
myosin IIIA |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 90 |
OMIM ClinVar |
PMID:25741868 PMID:26841241 PMID:28492532 PMID:29880844 PMID:34788109 |
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NCBI chr 2:7,455,125...7,695,483
Ensembl chr 2:7,455,625...7,696,043
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CDK13 |
cyclin dependent kinase 13 |
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ISO |
ClinVar Annotator: match by term: Wolfram-like disorder |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33879837 |
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NCBI chr18:9,801,350...9,920,401
Ensembl chr18:9,803,535...9,920,281
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WFS1 |
wolframin ER transmembrane glycoprotein |
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ISO |
ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant |
OMIM ClinVar |
PMID:3126496 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 PMID:11161832 PMID:11244483 PMID:11295831 PMID:11317350 PMID:11709537 PMID:11709538 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12754709 PMID:12955714 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:15912360 PMID:16151413 PMID:16648378 PMID:16806192 PMID:17492394 PMID:17568405 PMID:17603484 PMID:18040659 PMID:18060660 PMID:18414213 PMID:18544103 PMID:18688868 PMID:19042979 PMID:19292454 PMID:19877185 PMID:20028947 PMID:20069065 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21143470 PMID:21446023 PMID:21538838 PMID:21602428 PMID:21917145 PMID:22238590 PMID:23373429 PMID:23429432 PMID:23981289 PMID:24033266 PMID:24890733 PMID:24909696 PMID:25048417 PMID:25133958 PMID:25211237 PMID:25262649 PMID:25326637 PMID:25388789 PMID:25497598 PMID:25714468 PMID:25741868 PMID:25895475 PMID:26025012 PMID:26284228 PMID:26346818 PMID:26435059 PMID:26467025 PMID:26875006 PMID:26969326 PMID:27068579 PMID:27167055 PMID:27217304 PMID:27395765 PMID:27617222 PMID:27911912 PMID:27959697 PMID:28432734 PMID:28468959 PMID:28492532 PMID:28559085 PMID:28802351 PMID:29529044 PMID:29563951 PMID:29632382 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30476936 PMID:30577886 PMID:30773290 PMID:30872718 PMID:31264968 PMID:31313226 PMID:31343797 PMID:31391115 PMID:31521625 PMID:31567480 PMID:31589614 PMID:31600780 PMID:31765440 PMID:31850070 PMID:31980526 PMID:32219690 PMID:32350710 PMID:32567228 PMID:32645618 PMID:32883240 PMID:32938580 PMID:33046911 PMID:33098801 PMID:33841295 PMID:33879153 PMID:33980734 PMID:34258273 PMID:34356170 PMID:34416374 PMID:34426522 PMID:34440452 PMID:34445196 PMID:34556497 PMID:34573359 PMID:34746052 PMID:34758253 PMID:34789499 PMID:34837038 PMID:34997062 PMID:35206658 PMID:35469785 PMID:35602877 PMID:35872528 PMID:36098976 PMID:36147510 PMID:36208030 PMID:36227502 PMID:36284460 PMID:36330437 PMID:36597107 PMID:36729443 PMID:36933359 PMID:37041640 PMID:37337769 PMID:37508961 PMID:37510321 More...
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NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
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ADGRV1 |
adhesion G protein-coupled receptor V1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28951997 PMID:30303587 |
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NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532
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ANAPC15 |
anaphase promoting complex subunit 15 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:25741868 |
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NCBI chr21:25,971,680...25,975,556
Ensembl chr21:25,972,458...25,975,558
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ATP6V1B1 |
ATPase H+ transporting V1 subunit B1 |
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ISO |
OMIM:607197 |
MouseDO |
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NCBI chr10:69,261,311...69,287,540
Ensembl chr10:69,252,926...69,287,542
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BSND |
barttin CLCNK type accessory subunit beta |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:11734858 PMID:12574213 PMID:16328537 PMID:16572343 PMID:16935888 PMID:18776122 PMID:19646679 PMID:21269598 PMID:21541222 PMID:21865213 PMID:25741868 PMID:26537508 PMID:28492532 PMID:30303587 PMID:30311386 More...
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NCBI chr 5:54,225,393...54,239,305
Ensembl chr 5:54,225,389...54,237,110
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C4H10orf105 |
chromosome 4 C10orf105 homolog |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:11090341 PMID:11138009 PMID:16679490 PMID:21940737 PMID:25741868 PMID:27460420 PMID:28492532 PMID:30303587 PMID:30311386 More...
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NCBI chr 4:22,472,365...22,478,931
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CABP2 |
calcium binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:9536098 PMID:17576681 PMID:22981119 PMID:25741868 PMID:28492532 PMID:30303587 PMID:30311386 PMID:32681043 PMID:32991204 PMID:33269433 PMID:33666369 PMID:35150090 PMID:39062623 More...
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NCBI chr18:49,960,656...49,963,889
Ensembl chr18:49,959,544...49,964,268
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G |
CDH23 |
cadherin related 23 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:8894709 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:15353998 PMID:16199547 PMID:16679490 PMID:17407589 PMID:18429043 PMID:19683999 PMID:19888295 PMID:20513143 PMID:20613545 PMID:21436283 PMID:21569298 PMID:21917145 PMID:21940737 PMID:22899989 PMID:23794683 PMID:23804846 PMID:24006325 PMID:24033266 PMID:24498627 PMID:25404053 PMID:25741868 PMID:25963016 PMID:26467025 PMID:27018795 PMID:27460420 PMID:27573290 PMID:27792758 PMID:28492532 PMID:29148562 PMID:30303587 PMID:30311386 PMID:31445392 PMID:31546658 PMID:31980526 PMID:32467589 PMID:32485727 PMID:32645618 PMID:32842620 PMID:35020051 PMID:35982127 PMID:36460718 More...
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NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
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G |
CEACAM16 |
CEA cell adhesion molecule 16, tectorial membrane component |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:30311386 |
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NCBI chr 1:110,652,362...110,661,173
Ensembl chr 1:110,652,584...110,660,334
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G |
CIB2 |
calcium and integrin binding family member 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:23023331 PMID:24033266 PMID:25741868 PMID:26214305 PMID:26426422 PMID:28492532 PMID:28663585 PMID:29112224 PMID:30303587 PMID:30311386 PMID:34837038 More...
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G |
CLCC1 |
chloride channel CLIC like 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
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NCBI chr 6:42,807,432...42,829,317
Ensembl chr 6:42,807,064...42,829,273
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G |
CLDN14 |
claudin 14 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:11163249 PMID:15880785 PMID:22246673 PMID:25741868 PMID:30303587 PMID:30311386 More...
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NCBI chr31:31,677,410...31,725,794
Ensembl chr31:31,677,733...31,678,446
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G |
CLIC5 |
chloride intracellular channel 5 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
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NCBI chr12:14,160,524...14,318,174
Ensembl chr12:14,144,390...14,318,582
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G |
DYSF |
dysferlin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB |
ClinVar |
PMID:28492532 |
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NCBI chr17:51,011,197...51,228,969
Ensembl chr17:51,011,197...51,228,876
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G |
EDNRB |
endothelin receptor type B |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:14633923 PMID:16944573 PMID:17554617 PMID:18162831 PMID:20127975 PMID:25741868 PMID:29106856 PMID:30303587 PMID:30936914 PMID:31240788 PMID:32747562 PMID:33095980 PMID:35790984 More...
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NCBI chr22:31,415,324...31,438,772
Ensembl chr22:31,417,308...31,437,587
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G |
EPS8 |
EGFR pathway substrate 8, signaling adaptor |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:25741868 PMID:30303587 |
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NCBI chr27:30,893,884...31,070,401
Ensembl chr27:30,893,713...31,069,770
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G |
ESPN |
espin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
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NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676
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G |
ESRRB |
estrogen related receptor beta |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:23967202 PMID:24033266 PMID:30303587 PMID:33524517 |
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NCBI chr 8:49,253,877...49,424,148
Ensembl chr 8:49,253,332...49,421,332
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G |
GIPC3 |
GIPC PDZ domain containing family member 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
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NCBI chr20:55,833,876...55,837,621
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G |
GJB2 |
gap junction protein beta 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:3 PMID:1511312 PMID:2104787 PMID:2706105 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9819448 PMID:9856479 PMID:10204859 PMID:10218527 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10508996 PMID:10544226 PMID:10607953 PMID:10633133 PMID:10713883 PMID:10751669 PMID:10782932 PMID:10830906 PMID:10980526 PMID:10982180 PMID:10982182 PMID:11313751 PMID:11313763 PMID:11354642 PMID:11386851 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551104 PMID:11556849 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11807148 PMID:11935342 PMID:11968091 PMID:12081719 PMID:12121355 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12239718 PMID:12372058 PMID:12505163 PMID:12522556 PMID:12560944 PMID:12668604 PMID:12684873 PMID:12700168 PMID:12746422 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:14070830 PMID:14643477 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14985372 PMID:14986832 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15151513 PMID:15219044 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15617550 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15790391 PMID:15855033 PMID:15954104 PMID:15964725 PMID:15967879 PMID:15996214 PMID:16059934 PMID:16076412 PMID:16088916 PMID:16125251 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379542 PMID:16380907 PMID:16650073 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16868655 PMID:16945493 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17253936 PMID:17331080 PMID:17406097 PMID:17428550 PMID:17462767 PMID:17553572 PMID:17576681 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18294064 PMID:18414213 PMID:18451998 PMID:18570691 PMID:18776652 PMID:18793701 PMID:18804553 PMID:18924167 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:19072567 PMID:19157576 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19384972 PMID:19465004 PMID:19707039 PMID:19715472 PMID:19814620 PMID:19925344 PMID:19929407 PMID:19929408 PMID:20022641 PMID:20073550 PMID:20086291 PMID:20096356 PMID:20201936 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20407643 PMID:20563649 PMID:20739944 PMID:20815033 PMID:20890442 PMID:21040787 PMID:21122151 PMID:21220926 PMID:21465647 PMID:21468573 PMID:21488715 PMID:21510145 PMID:21776002 PMID:21811586 PMID:21910243 PMID:22000900 PMID:22106692 PMID:22281373 PMID:22567152 PMID:22567369 PMID:22574200 PMID:22613756 PMID:22695344 PMID:22855627 PMID:22975760 PMID:22981120 PMID:22995991 PMID:23073770 PMID:23141775 PMID:23451214 PMID:23489192 PMID:23504403 PMID:23637863 PMID:23638949 PMID:23668481 PMID:23680645 PMID:23757202 PMID:23873582 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24158611 PMID:24346070 PMID:24387126 PMID:24529908 PMID:24654934 PMID:24737404 PMID:24762805 PMID:24793888 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25153233 PMID:25189242 PMID:25262649 PMID:25288386 PMID:25326637 PMID:25388846 PMID:25555641 PMID:25636251 PMID:25741868 PMID:25999548 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26188157 PMID:26381000 PMID:26445815 PMID:26467025 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26969326 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27308839 PMID:27316387 PMID:27481527 PMID:27623246 PMID:27843504 PMID:28428247 PMID:28489599 PMID:28492532 PMID:29062245 PMID:29362677 PMID:29501291 PMID:29921236 PMID:29926981 PMID:30086704 PMID:30094485 PMID:30303587 PMID:30311386 PMID:30431684 PMID:30872814 PMID:30989077 PMID:31160754 PMID:31346875 PMID:31562289 PMID:31827275 PMID:32708339 PMID:32747562 PMID:33187236 PMID:33524517 PMID:33614373 PMID:34440441 PMID:35016843 PMID:35396755 PMID:36474027 PMID:37239361 More...
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NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
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G |
GJB3 |
gap junction protein beta 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:10587579 |
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NCBI chr15:7,175,010...7,177,145
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G |
GOSR2 |
golgi SNAP receptor complex member 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:35802133 PMID:37074134 |
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NCBI chr 9:10,201,625...10,220,688
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G |
GPR156 |
G protein-coupled receptor 156 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:37814107 |
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NCBI chr33:23,720,883...23,804,289
Ensembl chr33:23,722,672...23,774,283
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G |
GPSM2 |
G protein signaling modulator 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:20602914 PMID:22578326 PMID:25741868 PMID:30303587 PMID:32747562 |
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NCBI chr 6:42,828,611...42,878,334
Ensembl chr 6:42,824,455...42,868,690
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G |
GRXCR1 |
glutaredoxin and cysteine rich domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:20137778 PMID:24033266 PMID:28492532 PMID:30303587 |
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NCBI chr13:39,766,910...39,882,076
Ensembl chr13:39,766,919...39,882,086
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G |
GRXCR2 |
glutaredoxin and cysteine rich domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
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NCBI chr 2:40,310,285...40,330,200
Ensembl chr 2:40,315,807...40,328,240
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G |
ILDR1 |
immunoglobulin like domain containing receptor 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:15641023 PMID:21255762 PMID:25741868 PMID:30303587 |
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NCBI chr33:25,207,537...25,238,071
Ensembl chr33:25,207,572...25,237,949
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G |
KARS1 |
lysyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 PMID:30252186 PMID:30311386 PMID:30369941 PMID:31116475 More...
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NCBI chr 5:75,172,976...75,188,197
Ensembl chr 5:75,173,032...75,188,197
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G |
KCNJ10 |
potassium inwardly rectifying channel subfamily J member 10 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:25741868 PMID:26467025 PMID:27171548 PMID:28492532 |
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NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813
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G |
LHFPL5 |
LHFPL tetraspan subfamily member 5 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:16459341 PMID:25741868 PMID:30177809 PMID:30298622 PMID:30303587 PMID:30311386 More...
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NCBI chr12:4,919,732...4,936,823
Ensembl chr12:4,902,832...4,936,413
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G |
LOC106560171 |
transmembrane O-methyltransferase |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr21:25,975,547...25,981,097
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G |
LOXHD1 |
lipoxygenase homology PLAT domains 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:16199547 PMID:19732867 PMID:21465660 PMID:24033266 PMID:25741868 PMID:25792669 PMID:28000701 PMID:28492532 PMID:29676012 PMID:30311386 More...
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NCBI chr 7:44,662,800...44,828,405
Ensembl chr 7:44,663,182...44,826,858
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G |
LRTOMT |
leucine rich transmembrane and O-methyltransferase domain containing |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
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NCBI chr21:25,987,687...26,000,545
Ensembl chr21:25,987,433...26,000,327
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G |
MARVELD2 |
MARVEL domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:24033266 PMID:30303587 |
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NCBI chr 2:54,438,046...54,458,890
Ensembl chr 2:54,441,797...54,457,515
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G |
MPZL2 |
myelin protein zero like 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29961571 PMID:29982980 PMID:30311386 |
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NCBI chr 5:15,446,803...15,458,667
Ensembl chr 5:15,447,104...15,458,515
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G |
MSRB3 |
methionine sulfoxide reductase B3 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:19650862 PMID:21185009 PMID:25741868 PMID:30303587 |
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NCBI chr10:7,892,745...8,040,196
Ensembl chr10:7,892,640...8,038,043
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G |
MYH9 |
myosin heavy chain 9 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
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NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953
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G |
MYO15A |
myosin XVA |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17546645 PMID:17576681 PMID:19309289 PMID:25373420 PMID:25741868 PMID:26969326 PMID:27375115 PMID:27573290 PMID:28492532 PMID:30303587 PMID:30311386 PMID:30953472 PMID:35346193 PMID:35440622 PMID:35802133 PMID:36633841 More...
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NCBI chr 5:41,369,484...41,421,303
Ensembl chr 5:41,370,509...41,392,881
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G |
MYO3A |
myosin IIIA |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:25741868 |
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NCBI chr 2:7,455,125...7,695,483
Ensembl chr 2:7,455,625...7,696,043
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G |
MYO6 |
myosin VI |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724
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G |
MYO7A |
myosin VIIA |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:8900236 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10930322 PMID:12112664 PMID:15043528 PMID:16470552 PMID:16652077 PMID:16679490 PMID:16963483 PMID:18181211 PMID:19074810 PMID:20052763 PMID:21311020 PMID:21436283 PMID:21569298 PMID:21873662 PMID:22135276 PMID:22898263 PMID:23383098 PMID:23451239 PMID:23591405 PMID:23770805 PMID:24033266 PMID:24194196 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25558175 PMID:25741868 PMID:25798947 PMID:26226137 PMID:26469752 PMID:26791358 PMID:27344577 PMID:27460420 PMID:27573290 PMID:27957503 PMID:28041643 PMID:28492532 PMID:29692870 PMID:30303587 PMID:30311386 PMID:30459346 PMID:30718709 PMID:31479088 PMID:31964843 PMID:32531858 PMID:33089500 PMID:33187236 PMID:33269433 PMID:33671976 PMID:34148116 PMID:36147510 PMID:36909829 PMID:38189974 More...
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NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
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G |
OTOA |
otoancorin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:23173898 PMID:24033266 PMID:28492532 PMID:30303587 |
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NCBI chr 6:23,106,650...23,175,159
Ensembl chr 6:23,106,804...23,168,380
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G |
OTOF |
otoferlin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:12525542 PMID:14635104 PMID:18381613 PMID:19250381 PMID:19461658 PMID:20301429 PMID:22575033 PMID:24033266 PMID:25741868 PMID:26632695 PMID:27082237 PMID:28492532 PMID:30303587 PMID:30311386 PMID:34113375 PMID:34652575 More...
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NCBI chr17:20,518,480...20,619,713
Ensembl chr17:20,518,813...20,614,750
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G |
OTOG |
otogelin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:30303587 PMID:30311386 |
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NCBI chr21:40,103,163...40,193,680
Ensembl chr21:40,106,826...40,192,475
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G |
OTOGL |
otogelin like |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
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NCBI chr15:22,623,183...22,754,605
Ensembl chr15:22,556,295...22,753,956
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G |
PCDH15 |
protocadherin related 15 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30303587 |
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NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
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G |
PDZD7 |
PDZ domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:20440071 PMID:25741868 PMID:28492532 PMID:29048736 PMID:30311386 PMID:31253780 More...
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NCBI chr28:13,693,032...13,711,654
Ensembl chr28:13,693,023...13,711,784
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G |
PJVK |
pejvakin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:17301963 PMID:17718875 PMID:19888295 PMID:21696384 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 PMID:32747562 More...
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NCBI chr36:22,080,574...22,087,537
Ensembl chr36:22,040,303...22,092,249
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G |
POU4F3 |
POU class 4 homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
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NCBI chr 2:40,762,499...40,764,131
Ensembl chr 2:40,762,477...40,765,161
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PRKRA |
protein activator of interferon induced protein kinase EIF2AK2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr36:22,061,226...22,080,324
Ensembl chr36:22,061,461...22,080,612
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G |
PSAP |
prosaposin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:18429043 PMID:23794683 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848
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G |
PTPRQ |
protein tyrosine phosphatase receptor type Q |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 PMID:30311386 |
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NCBI chr15:22,771,653...23,017,694
Ensembl chr15:22,825,348...23,013,762
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G |
RDX |
radixin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:25741868 |
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NCBI chr 5:22,555,913...22,642,822
Ensembl chr 5:22,571,286...22,642,811
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SLC26A4 |
solute carrier family 26 member 4 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:9398842 PMID:9536098 PMID:9618166 PMID:9618167 PMID:10700480 PMID:10874637 PMID:10902795 PMID:11317356 PMID:11502831 PMID:11748854 PMID:11919333 PMID:11932316 PMID:12112665 PMID:12676893 PMID:12974744 PMID:14508505 PMID:14679580 PMID:15355436 PMID:15574297 PMID:15679828 PMID:15747138 PMID:15811013 PMID:15933521 PMID:16053392 PMID:16283880 PMID:16460646 PMID:16570074 PMID:16711435 PMID:16924389 PMID:16950989 PMID:17125574 PMID:17309986 PMID:17443271 PMID:17576681 PMID:17718863 PMID:17766716 PMID:18167283 PMID:18285825 PMID:18641518 PMID:18813951 PMID:19017801 PMID:19040761 PMID:19169484 PMID:19287372 PMID:19426954 PMID:19509082 PMID:19608655 PMID:19786220 PMID:20137612 PMID:20301640 PMID:20597900 PMID:20668687 PMID:20842945 PMID:21154317 PMID:21366435 PMID:21704276 PMID:21961810 PMID:22116358 PMID:22116360 PMID:22903915 PMID:23151025 PMID:23185506 PMID:23273637 PMID:23296490 PMID:23336812 PMID:23504402 PMID:23638949 PMID:23718755 PMID:23770805 PMID:23918157 PMID:23958391 PMID:23965030 PMID:24007330 PMID:24033266 PMID:24105851 PMID:24224479 PMID:24248179 PMID:24338212 PMID:24599119 PMID:24949729 PMID:25015771 PMID:25266519 PMID:25290043 PMID:25317404 PMID:25372295 PMID:25394566 PMID:25468468 PMID:25491636 PMID:25525159 PMID:25741868 PMID:26100058 PMID:26226137 PMID:26252218 PMID:26445815 PMID:26683941 PMID:26752218 PMID:26763877 PMID:27541434 PMID:27573290 PMID:27771369 PMID:28444304 PMID:28492532 PMID:28604962 PMID:28941661 PMID:28964290 PMID:29372807 PMID:30077349 PMID:30303587 PMID:30311386 PMID:30622556 PMID:30693673 PMID:30760291 PMID:31581539 PMID:31599023 PMID:31700827 PMID:31971949 PMID:32417962 PMID:32447495 PMID:32747562 PMID:33614372 PMID:34170635 PMID:34599368 PMID:35982127 More...
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NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212
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SLC26A5 |
solute carrier family 26 member 5 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
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NCBI chr18:16,783,795...16,841,946
Ensembl chr18:16,788,759...16,839,940
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G |
TECTA |
tectorin alpha |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:24033266 PMID:25741868 PMID:30303587 |
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NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147
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TMC1 |
transmembrane channel like 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:11850618 PMID:16134132 PMID:16199547 PMID:17877751 PMID:18414213 PMID:18616530 PMID:19187973 PMID:20373850 PMID:21250555 PMID:21917145 PMID:22105175 PMID:22607986 PMID:23767834 PMID:24033266 PMID:24416283 PMID:24949729 PMID:25074487 PMID:25491636 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30303587 PMID:30311386 PMID:31028865 PMID:31379920 PMID:31541171 PMID:31854501 PMID:32747562 PMID:34523024 More...
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NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369
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TMIE |
transmembrane inner ear |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:28492532 PMID:30303587 PMID:30311386 More...
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NCBI chr20:42,052,607...42,061,424
Ensembl chr20:42,053,817...42,061,262
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G |
TMPRSS3 |
transmembrane serine protease 3 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:11137999 PMID:11424922 PMID:12920079 PMID:16021470 PMID:17551081 PMID:22975204 PMID:24033266 PMID:25741868 PMID:26226137 PMID:26445815 PMID:26969326 PMID:28492532 PMID:29889784 PMID:30303587 PMID:30311386 PMID:30622556 PMID:34440452 PMID:34868270 More...
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NCBI chr31:36,706,229...36,730,444
Ensembl chr31:36,707,723...36,730,520
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G |
TOGARAM2 |
TOG array regulator of axonemal microtubules 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:20642360 PMID:38374469 |
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NCBI chr17:22,829,957...22,913,565
Ensembl chr17:22,849,467...22,892,447
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G |
TPRN |
taperin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:20170899 PMID:30303587 |
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G |
TRIOBP |
TRIO and F-actin binding protein |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:16385457 PMID:16385458 PMID:20510926 PMID:28492532 PMID:30303587 PMID:30311386 More...
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NCBI chr10:26,856,981...26,913,330
Ensembl chr10:26,857,678...26,911,083
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USH1C |
USH1 protein network component harmonin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 PMID:12702164 PMID:17407589 PMID:20301442 PMID:21203349 PMID:21569298 PMID:22135276 PMID:24033266 PMID:25356976 PMID:25468891 PMID:25525159 PMID:25741868 PMID:26969326 PMID:27460420 PMID:28041643 PMID:28492532 PMID:30303587 PMID:30718709 More...
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NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
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USH1G |
USH1 protein network component sans |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:25741868 PMID:30303587 |
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NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900
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G |
USH2A |
usherin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 PMID:28492532 PMID:30303587 More...
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NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
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G |
WHRN |
whirlin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:30303587 |
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NCBI chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977
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G |
PPIP5K2 |
diphosphoinositol pentakisphosphate kinase 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 100 | ClinVar Annotator: match by term: PPIP5K2-related condition |
OMIM ClinVar |
PMID:15538632 PMID:25741868 PMID:29590114 |
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NCBI chr 3:8,013,879...8,083,177
Ensembl chr 3:8,002,012...8,087,684
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G |
GRXCR2 |
glutaredoxin and cysteine rich domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 101 | ClinVar Annotator: match by term: GRXCR2-related condition |
OMIM ClinVar |
PMID:24619944 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 2:40,310,285...40,330,200
Ensembl chr 2:40,315,807...40,328,240
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G |
EPS8 |
EGFR pathway substrate 8, signaling adaptor |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 102 | ClinVar Annotator: match by term: EPS8-related condition |
OMIM ClinVar |
PMID:24033266 PMID:24741995 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30303587 More...
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NCBI chr27:30,893,884...31,070,401
Ensembl chr27:30,893,713...31,069,770
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G |
CLIC5 |
chloride intracellular channel 5 |
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ISO |
ClinVar Annotator: match by term: CLIC5-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 103 |
OMIM ClinVar |
PMID:24033266 PMID:24781754 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr12:14,160,524...14,318,174
Ensembl chr12:14,144,390...14,318,582
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G |
GJB2 |
gap junction protein beta 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 104 |
ClinVar |
PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9819448 PMID:10204859 PMID:10218527 PMID:10376574 PMID:10422812 PMID:10477435 PMID:10508996 PMID:10544226 PMID:10607953 PMID:10633133 PMID:10713883 PMID:10751669 PMID:10782932 PMID:10982182 PMID:11313751 PMID:11313763 PMID:11386851 PMID:11483639 PMID:11493200 PMID:11551104 PMID:11668644 PMID:11807148 PMID:11935342 PMID:12081719 PMID:12172392 PMID:12176036 PMID:12239718 PMID:12522556 PMID:12684873 PMID:12746422 PMID:12786762 PMID:12792423 PMID:14070830 PMID:14694360 PMID:14735592 PMID:14985372 PMID:14986832 PMID:15070423 PMID:15113126 PMID:15359540 PMID:15666300 PMID:15954104 PMID:15967879 PMID:16088916 PMID:16336662 PMID:16380907 PMID:16650073 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16868655 PMID:17406097 PMID:17428550 PMID:17553572 PMID:17576681 PMID:17935238 PMID:17993581 PMID:18294064 PMID:18414213 PMID:18804553 PMID:18925674 PMID:18985073 PMID:19371219 PMID:19375528 PMID:19384972 PMID:19814620 PMID:19925344 PMID:20022641 PMID:20073550 PMID:20086291 PMID:20201936 PMID:20236118 PMID:20301449 PMID:20739944 PMID:20815033 PMID:21122151 PMID:21220926 PMID:21465647 PMID:21468573 PMID:21776002 PMID:21910243 PMID:22000900 PMID:22281373 PMID:22567152 PMID:22567369 PMID:22855627 PMID:22975760 PMID:22981120 PMID:23489192 PMID:23680645 PMID:23757202 PMID:24039984 PMID:24158611 PMID:24346070 PMID:24529908 PMID:24793888 PMID:24840842 PMID:24959830 PMID:25012701 PMID:25189242 PMID:25288386 PMID:25555641 PMID:25741868 PMID:25999548 PMID:26059209 PMID:26096904 PMID:26445815 PMID:26467025 PMID:26969326 PMID:27177978 PMID:27224056 PMID:27481527 PMID:27843504 PMID:28428247 PMID:28492532 PMID:29362677 PMID:29501291 PMID:30086704 PMID:30303587 PMID:30311386 PMID:30431684 PMID:30872814 PMID:31160754 PMID:31346875 PMID:32708339 PMID:32747562 PMID:33524517 PMID:34440441 PMID:35396755 PMID:36474027 PMID:37239361 More...
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NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
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G |
RIPOR2 |
RHO family interacting cell polarization regulator 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 104 | ClinVar Annotator: match by term: RIPOR2-related condition |
OMIM ClinVar |
PMID:24033266 PMID:24958875 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr35:22,823,053...23,041,765
Ensembl chr35:22,824,106...23,041,743
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G |
EPS8 |
EGFR pathway substrate 8, signaling adaptor |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 106 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr27:30,893,884...31,070,401
Ensembl chr27:30,893,713...31,069,770
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G |
EPS8L2 |
EPS8 signaling adaptor L2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 106 | ClinVar Annotator: match by term: EPS8L2-related condition |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26282398 PMID:28281779 PMID:28492532 PMID:32747562 More...
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NCBI chr18:25,741,166...25,755,310
Ensembl chr18:25,733,090...25,755,658
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G |
WBP2 |
WW domain binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 107 | ClinVar Annotator: match by term: WBP2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26881968 PMID:28492532 |
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NCBI chr 9:4,743,476...4,752,301
Ensembl chr 9:4,743,539...4,752,270
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G |
ROR1 |
receptor tyrosine kinase like orphan receptor 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 108 | ClinVar Annotator: match by term: ROR1-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26467025 PMID:27162350 PMID:28492532 |
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NCBI chr 5:46,010,097...46,477,882
Ensembl chr 5:46,013,195...46,190,880
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G |
ESRP1 |
epithelial splicing regulatory protein 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 109 | ClinVar Annotator: match by term: ESRP1-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29107558 |
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NCBI chr29:39,322,516...39,388,363
Ensembl chr29:39,333,117...39,387,337
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COCH |
cochlin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 110 |
OMIM ClinVar |
PMID:24033266 PMID:25230692 PMID:25741868 PMID:28492532 PMID:29449721 PMID:30311386 PMID:31126177 PMID:32562050 More...
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NCBI chr 8:10,215,101...10,230,017
Ensembl chr 8:10,214,536...10,233,550
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G |
MPZL2 |
myelin protein zero like 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 111 | ClinVar Annotator: match by term: MPZL2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29961571 PMID:29982980 PMID:30311386 PMID:35599849 PMID:35802133 PMID:36633841 More...
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NCBI chr 5:15,446,803...15,458,667
Ensembl chr 5:15,447,104...15,458,515
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G |
PEX2 |
peroxisomal biogenesis factor 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 111 |
ClinVar |
PMID:9452066 PMID:10528859 PMID:10652207 PMID:14630978 PMID:15542397 PMID:17041890 PMID:21465523 PMID:25741868 PMID:28492532 More...
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NCBI chr29:24,943,563...24,960,834
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BDP1 |
B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB |
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ISO |
ClinVar Annotator: match by term: BDP1-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 112 |
OMIM ClinVar |
PMID:24312468 PMID:25741868 PMID:26467025 |
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NCBI chr 2:54,654,406...54,743,443
Ensembl chr 2:54,654,481...54,740,787
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G |
CEACAM16 |
CEA cell adhesion molecule 16, tectorial membrane component |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 113 |
OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29703829 PMID:30311386 PMID:33111345 More...
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NCBI chr 1:110,652,362...110,661,173
Ensembl chr 1:110,652,584...110,660,334
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GRAP |
GRB2 related adaptor protein |
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ISO |
ClinVar Annotator: match by term: Hearing loss, autosomal recessive 114 |
OMIM ClinVar |
PMID:25741868 PMID:30610177 |
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NCBI chr 5:41,014,193...41,038,965
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G |
SPNS2 |
SPNS lysolipid transporter 2, sphingosine-1-phosphate |
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ISO |
ClinVar Annotator: match by term: Hearing loss, autosomal recessive 115 | ClinVar Annotator: match by term: SPNS2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:30,494,355...30,527,669
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G |
CLDN9 |
claudin 9 |
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ISO |
ClinVar Annotator: match by term: CLDN9-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 116 |
OMIM ClinVar |
PMID:25741868 PMID:30311386 PMID:31175426 PMID:34265170 PMID:35802133 PMID:36633841 More...
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NCBI chr 6:38,172,035...38,174,089
Ensembl chr 6:38,172,550...38,173,203
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G |
CLRN2 |
clarin 2 |
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ISO |
ClinVar Annotator: match by term: CLRN2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 117 |
OMIM ClinVar |
PMID:25741868 PMID:33496845 PMID:38243601 |
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NCBI chr 3:62,958,242...62,967,878
Ensembl chr 3:62,959,224...62,967,994
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G |
AFG2B |
AFG2 AAA ATPase homolog B |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 119 |
OMIM ClinVar |
PMID:25741868 PMID:26138355 PMID:28492532 PMID:34626583 |
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NCBI chr30:11,767,166...11,788,402
Ensembl chr30:11,767,064...11,788,398
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ATP2B2 |
ATPase plasma membrane Ca2+ transporting 2 |
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ISO |
ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12, modifier of |
OMIM ClinVar |
PMID:15829536 PMID:22047666 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532 PMID:29452611 More...
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NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474
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G |
C4H10orf105 |
chromosome 4 C10orf105 homolog |
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ISO |
ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 |
ClinVar |
PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 PMID:16199547 PMID:16679490 PMID:17850630 PMID:18273900 PMID:18429043 PMID:19683999 PMID:20146813 PMID:21228398 PMID:21569298 PMID:21940737 PMID:22135276 PMID:22899989 PMID:24033266 PMID:24875298 PMID:25468891 PMID:25741868 PMID:26467025 PMID:27610647 PMID:28413019 PMID:28492532 PMID:28847902 PMID:30303587 PMID:31445392 PMID:31541171 PMID:33924653 PMID:34335733 PMID:35020051 PMID:36597107 More...
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NCBI chr 4:22,472,365...22,478,931
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G |
CDH23 |
cadherin related 23 |
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ISO |
ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 |
OMIM ClinVar |
PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:12522556 PMID:12910270 PMID:15353998 PMID:15537665 PMID:15660226 PMID:15829536 PMID:16199547 PMID:16281288 PMID:16679490 PMID:16963483 PMID:17407589 PMID:17576681 PMID:17850630 PMID:18273900 PMID:18323324 PMID:18348277 PMID:18368581 PMID:18429043 PMID:18484607 PMID:19375528 PMID:19683999 PMID:19888295 PMID:20146813 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21078986 PMID:21174530 PMID:21228398 PMID:21436283 PMID:21569298 PMID:21738395 PMID:21917145 PMID:21940737 PMID:22135276 PMID:22443853 PMID:22607986 PMID:22899989 PMID:22995991 PMID:23208854 PMID:23451239 PMID:23591405 PMID:23757202 PMID:23804846 PMID:23967202 PMID:24006325 PMID:24033266 PMID:24082139 PMID:24164807 PMID:24416283 PMID:24444108 PMID:24498627 PMID:24618850 PMID:24767429 PMID:24875298 PMID:25231367 PMID:25262649 PMID:25279224 PMID:25333064 PMID:25356970 PMID:25373420 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25474345 PMID:25525159 PMID:25587757 PMID:25605338 PMID:25741868 PMID:25788563 PMID:25963016 PMID:26226137 PMID:26264712 PMID:26346818 PMID:26399936 PMID:26445815 PMID:26467025 PMID:26633542 PMID:26763877 PMID:26969326 PMID:27018795 PMID:27068579 PMID:27349180 PMID:27460420 PMID:27583405 PMID:27583663 PMID:27610647 PMID:27627659 PMID:27743452 PMID:27792758 PMID:27884173 PMID:28000701 PMID:28383030 PMID:28413019 PMID:28483220 PMID:28492532 PMID:28501645 PMID:28847902 PMID:28912962 PMID:29048421 PMID:29148562 PMID:29343940 PMID:29568747 PMID:29889784 PMID:29986705 PMID:30029624 PMID:30033219 PMID:30123251 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30367262 PMID:30459346 PMID:30622556 PMID:30718709 PMID:30733538 PMID:30828794 PMID:30872718 PMID:31054281 PMID:31152317 PMID:31445392 PMID:31541171 PMID:31546658 PMID:31816670 PMID:31850270 PMID:31872526 PMID:31980526 PMID:32238869 PMID:32467589 PMID:32707200 PMID:32747562 PMID:32842620 PMID:32860223 PMID:32991204 PMID:33576794 PMID:33724713 PMID:33924653 PMID:34265623 PMID:34335733 PMID:34416374 PMID:34426522 PMID:34824372 PMID:34906470 PMID:34906502 PMID:34948090 PMID:34997062 PMID:35020051 PMID:35062939 PMID:35186827 PMID:35248088 PMID:35440622 PMID:35580552 PMID:35802133 PMID:35982127 PMID:36460718 PMID:36597107 PMID:36633841 PMID:36672845 PMID:38927702 More...
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NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
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G |
GJB2 |
gap junction protein beta 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 12 |
ClinVar |
PMID:24367894 PMID:25741868 |
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NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
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G |
PSAP |
prosaposin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 12 |
ClinVar |
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:28492532 |
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NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848
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G |
VSIR |
V-set immunoregulatory receptor |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 12 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:22,504,888...22,530,702
Ensembl chr 4:22,459,363...22,530,687
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G |
MINAR2 |
membrane integral NOTCH2 associated receptor 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 120 |
OMIM ClinVar |
PMID:35727972 |
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NCBI chr11:18,506,042...18,531,187
Ensembl chr11:18,507,059...18,524,589
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G |
OBSCN |
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 120 |
ClinVar |
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NCBI chr14:664,404...782,376
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G |
GPR156 |
G protein-coupled receptor 156 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 121 |
OMIM ClinVar |
PMID:25741868 PMID:37814107 |
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NCBI chr33:23,720,883...23,804,289
Ensembl chr33:23,722,672...23,774,283
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G |
TMTC4 |
transmembrane O-mannosyltransferase targeting cadherins 4 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 122 |
OMIM ClinVar |
PMID:37943620 |
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NCBI chr22:50,483,799...50,554,421
Ensembl chr22:50,485,190...50,555,587
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G |
STX4 |
syntaxin 4 |
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ISO |
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OMIM |
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NCBI chr 6:17,184,044...17,189,481
Ensembl chr 6:17,184,399...17,189,370
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G |
PKHD1L1 |
PKHD1 like 1 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 124 |
ClinVar OMIM |
PMID:38459354 |
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NCBI chr13:9,925,047...10,073,054
Ensembl chr13:9,926,156...10,070,253
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G |
GAS2 |
growth arrest specific 2 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 125 |
OMIM ClinVar |
PMID:33964205 |
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NCBI chr21:44,277,996...44,406,210
Ensembl chr21:44,286,531...44,405,060
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G |
GIPC3 |
GIPC PDZ domain containing family member 3 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95 | ClinVar Annotator: match by term: Deafness, autosomal recessive 15 | ClinVar Annotator: match by term: GIPC3-related condition |
OMIM ClinVar |
PMID:9286457 PMID:17690910 PMID:21326233 PMID:21660509 PMID:23510777 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 PMID:32682410 PMID:32747562 PMID:32864763 More...
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NCBI chr20:55,833,876...55,837,621
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G |
CATSPER2 |
cation channel sperm associated 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 |
ClinVar |
PMID:11687802 PMID:21681106 PMID:25741868 PMID:26011646 |
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NCBI chr30:10,471,798...10,487,948
Ensembl chr30:10,471,814...10,487,739
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G |
FRMD5 |
FERM domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 |
ClinVar |
PMID:25741868 |
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NCBI chr30:10,611,986...10,923,444
Ensembl chr30:10,614,406...10,923,261
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G |
LOC478277 |
creatine kinase U-type, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 |
ClinVar |
PMID:25741868 |
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NCBI chr30:10,438,566...10,444,532
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G |
PDIA3 |
protein disulfide isomerase family A member 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 |
ClinVar |
PMID:25741868 |
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NCBI chr30:10,487,926...10,513,437
Ensembl chr30:10,487,921...10,513,397
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G |
PPIP5K1 |
diphosphoinositol pentakisphosphate kinase 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 |
ClinVar |
PMID:25741868 |
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NCBI chr30:10,383,733...10,436,423
Ensembl chr30:10,384,791...10,426,533
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G |
STRC |
stereocilin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 | ClinVar Annotator: match by term: STRC-related condition |
OMIM ClinVar |
PMID:11687802 PMID:18414213 PMID:21078986 PMID:21681106 PMID:22147502 PMID:24033266 PMID:24963352 PMID:25157971 PMID:25741868 PMID:26011646 PMID:26467025 PMID:26746617 PMID:26969326 PMID:27057829 PMID:29196752 PMID:29425068 PMID:30311386 PMID:31552524 PMID:32203226 PMID:32705992 PMID:32860223 PMID:35802133 PMID:36633841 More...
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NCBI chr30:10,444,726...10,459,058
Ensembl chr30:10,444,793...10,460,785
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G |
USH1C |
USH1 protein network component harmonin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 18 |
ClinVar |
PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16199547 PMID:16679490 PMID:16963483 PMID:17174357 PMID:17407589 PMID:17576681 PMID:18665195 PMID:20095043 PMID:20142502 PMID:20301442 PMID:20613545 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:23251578 PMID:24033266 PMID:24416283 PMID:24498627 PMID:24875298 PMID:25333064 PMID:25356976 PMID:25468891 PMID:25525159 PMID:25560255 PMID:25741868 PMID:26969326 PMID:27440999 PMID:27460420 PMID:27743452 PMID:27848944 PMID:27957503 PMID:28041643 PMID:28492532 PMID:29276601 PMID:29490346 PMID:29625443 PMID:29739340 PMID:29907799 PMID:30096381 PMID:30245029 PMID:30303587 PMID:30718709 PMID:31858762 PMID:32581362 PMID:32747562 PMID:33095980 PMID:33576794 PMID:33724713 PMID:34391192 PMID:34426522 PMID:38219857 More...
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NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
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G |
USH1C |
USH1 protein network component harmonin |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18A | ClinVar Annotator: match by term: Deafness, autosomal recessive 18A | ClinVar Annotator: match by term: USH1C-related condition |
OMIM ClinVar |
PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16199547 PMID:16679490 PMID:16963483 PMID:17174357 PMID:17407589 PMID:17576681 PMID:18665195 PMID:20095043 PMID:20142502 PMID:20301442 PMID:20613545 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:23251578 PMID:24033266 PMID:24416283 PMID:24498627 PMID:24875298 PMID:25333064 PMID:25356976 PMID:25468891 PMID:25525159 PMID:25560255 PMID:25741868 PMID:26969326 PMID:27440999 PMID:27460420 PMID:27743452 PMID:27848944 PMID:27957503 PMID:28041643 PMID:28492532 PMID:29276601 PMID:29490346 PMID:29625443 PMID:29739340 PMID:29907799 PMID:30096381 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30718709 PMID:31858762 PMID:32581362 PMID:32747562 PMID:33095980 PMID:33576794 PMID:33724713 PMID:34391192 PMID:34426522 PMID:38219857 More...
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NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
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G |
OTOG |
otogelin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 18b | ClinVar Annotator: match by term: OTOG-related condition |
OMIM ClinVar |
PMID:9536098 PMID:10655058 PMID:16199547 PMID:17576681 PMID:23122587 PMID:24033266 PMID:24378291 PMID:25741868 PMID:26467025 PMID:28050010 PMID:28492532 PMID:29196752 PMID:29907799 PMID:30139988 PMID:30311386 PMID:31152317 PMID:31645975 PMID:31827275 PMID:32048449 PMID:33223529 PMID:35802133 PMID:36633841 More...
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NCBI chr21:40,103,163...40,193,680
Ensembl chr21:40,106,826...40,192,475
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G |
CRYL1 |
crystallin lambda 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 |
ClinVar |
PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 PMID:15994881 PMID:17041943 PMID:18324688 PMID:20236118 PMID:27480936 PMID:28492532 More...
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NCBI chr25:17,551,586...17,733,754
Ensembl chr25:17,562,926...17,733,630
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G |
EEF1AKMT1 |
EEF1A lysine methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A |
ClinVar |
PMID:28492532 |
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NCBI chr25:17,357,251...17,382,098
Ensembl chr25:17,357,328...17,381,821
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G |
ERCC8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A |
ClinVar |
PMID:19894250 PMID:29572252 PMID:30820731 PMID:30871974 PMID:31980658 |
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NCBI chr 2:47,502,777...47,559,012
Ensembl chr 2:47,503,762...47,558,889
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G |
GJA3 |
gap junction protein alpha 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A |
ClinVar |
PMID:28492532 |
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NCBI chr25:17,986,270...18,004,344
Ensembl chr25:18,002,817...18,004,160
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G |
GJB2 |
gap junction protein beta 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 |
OMIM ClinVar |
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 PMID:2706105 PMID:2956987 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:9838096 PMID:9856479 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID:10369869 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10704187 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10980526 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11179004 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11445873 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12064630 PMID:12081719 PMID:12111646 PMID:12112666 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12372058 PMID:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12457340 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12673800 PMID:12684873 PMID:12746422 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12872268 PMID:12885339 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14556203 PMID:14571368 PMID:14643477 PMID:14676473 PMID:14681040 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14978038 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15146674 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15603707 PMID:15617546 PMID:15617550 PMID:15633193 PMID:15638823 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15757815 PMID:15790391 PMID:15832357 PMID:15841999 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:15994881 PMID:15996214 PMID:16059934 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16154643 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16645853 PMID:16650073 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16885744 PMID:16931589 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041897 PMID:17041943 PMID:17077310 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17309986 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17428836 PMID:17431919 PMID:17444514 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17567887 PMID:17567889 PMID:17576681 PMID:17581693 PMID:17660464 PMID:17661817 PMID:17666888 PMID:17671735 PMID:17935238 PMID:17993581 PMID:18024254 PMID:18196482 PMID:18294064 PMID:18316665 PMID:18324688 PMID:18353197 PMID:18414213 PMID:18451998 PMID:18472371 PMID:18519481 PMID:18560174 PMID:18570691 PMID:18580690 PMID:18607988 PMID:18649181 PMID:18668259 PMID:18684989 PMID:18688874 PMID:18758381 PMID:18776652 PMID:18804553 PMID:18809215 PMID:18837651 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:18990456 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19101659 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19283857 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19384972 PMID:19390476 PMID:19465004 PMID:19567088 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19718752 PMID:19719946 PMID:19723508 PMID:19744334 PMID:19775242 PMID:19814620 PMID:19877196 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20031451 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20096356 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20412116 PMID:20441744 PMID:20442751 PMID:20497192 PMID:20542681 PMID:20553101 PMID:20563649 PMID:20593197 PMID:20601923 PMID:20607074 PMID:20639189 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 PMID:20937258 PMID:20956747 PMID:20981092 PMID:21040787 PMID:21055240 PMID:21094084 PMID:21094651 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21292415 PMID:21298213 PMID:21298644 PMID:21366436 PMID:21388256 PMID:21392827 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21510145 PMID:21557232 PMID:21728791 PMID:21738759 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21836520 PMID:21844220 PMID:21868108 PMID:21910243 PMID:21912263 PMID:21916817 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22031297 PMID:22037723 PMID:22103400 PMID:22106692 PMID:22208444 PMID:22281373 PMID:22384008 PMID:22389666 PMID:22429511 PMID:22450542 PMID:22484064 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22567861 PMID:22574200 PMID:22592158 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22704424 PMID:22747691 PMID:22785241 PMID:22787277 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23039283 PMID:23073770 PMID:23120683 PMID:23141775 PMID:23266159 PMID:23328711 PMID:23418865 PMID:23451214 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23684175 PMID:23695287 PMID:23751281 PMID:23757202 PMID:23804846 PMID:23812555 PMID:23826813 PMID:23856378 PMID:23873582 PMID:23900770 PMID:23967136 PMID:23967202 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24078562 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24158896 PMID:24224790 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 PMID:24372583 PMID:24503448 PMID:24507663 PMID:24529908 PMID:24551843 PMID:24596593 PMID:24611097 PMID:24612839 PMID:24645897 PMID:24654934 PMID:24706568 PMID:24737404 PMID:24762805 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24840842 PMID:24941117 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25153233 PMID:25162826 PMID:25188385 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25365227 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25560255 PMID:25587757 PMID:25625422 PMID:25628337 PMID:25636251 PMID:25637381 PMID:25692760 PMID:25708704 PMID:25741868 PMID:25752103 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26046157 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26186295 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26397989 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26482070 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26763877 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27067584 PMID:27087580 PMID:27153395 PMID:27169813 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 PMID:27316387 PMID:27340645 PMID:27398341 PMID:27466889 PMID:27481527 PMID:27501294 PMID:27518711 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27761313 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884173 PMID:27884957 PMID:28008688 PMID:28012523 PMID:28222800 PMID:28263784 PMID:28271504 PMID:28383030 PMID:28405014 PMID:28428247 PMID:28483220 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28640090 PMID:28651654 PMID:28704896 PMID:28786104 PMID:28900111 PMID:28900455 PMID:29062245 PMID:29106882 PMID:29140768 PMID:29148562 PMID:29152271 PMID:29196752 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29542069 PMID:29605365 PMID:29625052 PMID:29665173 PMID:29773520 PMID:29871260 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30068397 PMID:30086704 PMID:30094485 PMID:30146550 PMID:30168495 PMID:30245029 PMID:30275481 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30466042 PMID:30473554 PMID:30589569 PMID:30693673 PMID:30733538 PMID:30755392 PMID:30762455 PMID:30828346 PMID:30872814 PMID:30896630 PMID:30989077 PMID:31035178 PMID:31053783 PMID:31099403 PMID:31152317 PMID:31160754 PMID:31162818 PMID:31163360 PMID:31195736 PMID:31346875 PMID:31370293 PMID:31379920 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31827275 PMID:31911633 PMID:31980526 PMID:31992338 PMID:32012697 PMID:32067424 PMID:32090102 PMID:32120898 PMID:32258544 PMID:32355288 PMID:32455934 PMID:32645618 PMID:32708339 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33179747 PMID:33187236 PMID:33297549 PMID:33333757 PMID:33466560 PMID:33524517 PMID:33597575 PMID:33614373 PMID:33914963 PMID:33928925 PMID:34062854 PMID:34161886 PMID:34276761 PMID:34325055 PMID:34335733 PMID:34354426 PMID:34403091 PMID:34440441 PMID:34515852 PMID:34581455 PMID:34652575 PMID:35016843 PMID:35182233 PMID:35301649 PMID:35336849 PMID:35396755 PMID:35864128 PMID:36048236 PMID:36474027 PMID:36579563 PMID:36672810 PMID:36788145 PMID:37239361 PMID:38730444 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 More...
|
|
NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
|
|
G |
GJB3 |
gap junction protein beta 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3 |
OMIM ClinVar |
PMID:12791041 PMID:19050930 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr15:7,175,010...7,177,145
|
|
G |
GJB4 |
gap junction protein beta 4 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A |
ClinVar |
PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532 |
|
NCBI chr15:7,193,183...7,195,586
|
|
G |
GJB6 |
gap junction protein beta 6 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 |
OMIM ClinVar |
PMID:10471490 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 PMID:12172394 PMID:12419304 PMID:12788524 PMID:12885339 PMID:14571368 PMID:14708603 PMID:15213106 PMID:15638823 PMID:15769851 PMID:15994881 PMID:16547895 PMID:16950989 PMID:17041943 PMID:17160938 PMID:17259707 PMID:17666888 PMID:18324688 PMID:19723508 PMID:20536673 PMID:21731760 PMID:22106692 PMID:22617145 PMID:23219093 PMID:23757202 PMID:23863883 PMID:23926005 PMID:23981984 PMID:24033266 PMID:24052723 PMID:24514865 PMID:24522190 PMID:24685692 PMID:25214170 PMID:25262649 PMID:25741868 PMID:26551294 PMID:27068579 PMID:27137747 PMID:27480936 PMID:27817781 PMID:28492532 PMID:29739340 PMID:29771057 PMID:30311386 PMID:30620052 PMID:31015822 PMID:31589614 PMID:35062939 PMID:36926140 More...
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|
NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605
|
|
G |
IFT88 |
intraflagellar transport 88 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr25:17,414,965...17,551,405
Ensembl chr25:17,414,965...17,551,266
|
|
G |
IL17D |
interleukin 17D |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A |
ClinVar |
PMID:28492532 |