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G |
NIPBL |
NIPBL cohesin loading factor |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19763162 |
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NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413
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G |
PRKRA |
protein activator of interferon induced protein kinase EIF2AK2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25554729 |
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NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512
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G |
SRRM4 |
serine/arginine repetitive matrix 4 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17613114 |
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NCBI chr12:118,981,541...119,163,051
Ensembl chr12:118,981,541...119,163,051
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G |
TTPA |
alpha tocopherol transfer protein |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10896705 |
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NCBI chr 8:63,058,409...63,086,053
Ensembl chr 8:63,048,553...63,086,053
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G |
ACAT2 |
acetyl-CoA acetyltransferase 2 |
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IAGP |
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 6:159,762,045...159,779,112
Ensembl chr 6:159,762,045...159,779,112
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G |
AGPAT4 |
1-acylglycerol-3-phosphate O-acyltransferase 4 |
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IAGP |
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 6:161,129,967...161,274,061
Ensembl chr 6:161,129,967...161,274,061
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G |
AIRN |
antisense of IGF2R non-protein coding RNA |
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IAGP |
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 6:160,003,291...160,007,664
Ensembl chr 6:160,002,409...160,007,664
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G |
DYNLT1 |
dynein light chain Tctex-type 1 |
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IAGP |
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 6:158,636,474...158,644,743
Ensembl chr 6:158,636,474...158,644,743
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G |
EZR |
ezrin |
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IAGP |
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 6:158,765,748...158,819,368
Ensembl chr 6:158,765,741...158,819,368
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G |
FNDC1 |
fibronectin type III domain containing 1 |
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IAGP |
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 6:159,169,400...159,272,108
Ensembl chr 6:159,169,400...159,272,108
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G |
GTF2H5 |
general transcription factor IIH subunit 5 |
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IAGP |
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 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344
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G |
IGF2R |
insulin like growth factor 2 receptor |
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IAGP |
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 6:159,969,082...160,111,504
Ensembl chr 6:159,969,082...160,113,507
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G |
LINC02901 |
long intergenic non-protein coding RNA 2901 |
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IAGP |
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 6:158,869,814...158,910,353
Ensembl chr 6:158,869,067...158,948,522
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G |
LPA |
lipoprotein(a) |
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IAGP |
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 6:160,531,482...160,664,275
Ensembl chr 6:160,531,482...160,664,275
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G |
MAP3K4 |
mitogen-activated protein kinase kinase kinase 4 |
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IAGP |
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 6:160,991,769...161,117,380
Ensembl chr 6:160,991,727...161,117,385
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G |
MAS1 |
MAS1 proto-oncogene, G protein-coupled receptor |
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IAGP |
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 6:159,888,787...159,917,447
Ensembl chr 6:159,890,988...159,917,447
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G |
MRPL18 |
mitochondrial ribosomal protein L18 |
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IAGP |
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 6:159,789,812...159,798,429
Ensembl chr 6:159,789,812...159,798,436
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G |
PLG |
plasminogen |
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IAGP |
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 6:160,702,193...160,754,097
Ensembl chr 6:160,702,194...160,754,097
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G |
PNLDC1 |
PARN like ribonuclease domain containing exonuclease 1 |
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IAGP |
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 6:159,799,455...159,820,704
Ensembl chr 6:159,800,249...159,820,704
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G |
PRKN |
parkin RBR E3 ubiquitin protein ligase |
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IAGP |
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 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
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G |
RSPH3 |
radial spoke head 3 |
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IAGP |
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 6:158,962,980...159,000,202
Ensembl chr 6:158,970,084...159,000,202
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G |
SERAC1 |
serine active site containing 1 |
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IAGP ISS |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 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:614739 |
OMIM ClinVar MouseDO |
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 6:158,109,519...158,168,262
Ensembl chr 6:158,109,519...158,168,280
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G |
SLC22A1 |
solute carrier family 22 member 1 |
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IAGP |
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 6:160,121,815...160,158,718
Ensembl chr 6:160,121,815...160,158,718
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G |
SLC22A2 |
solute carrier family 22 member 2 |
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IAGP |
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 6:160,216,755...160,258,821
Ensembl chr 6:160,171,061...160,277,638
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G |
SLC22A3 |
solute carrier family 22 member 3 |
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IAGP |
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 6:160,348,378...160,452,577
Ensembl chr 6:160,348,378...160,452,577
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G |
SOD2 |
superoxide dismutase 2 |
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IAGP |
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 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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G |
SYTL3 |
synaptotagmin like 3 |
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IAGP |
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 6:158,644,936...158,764,871
Ensembl chr 6:158,650,014...158,764,876
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G |
TAGAP |
T cell activation RhoGTPase activating protein |
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IAGP |
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 6:159,034,481...159,044,991
Ensembl chr 6:159,034,468...159,095,823
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G |
TCP1 |
t-complex 1 |
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IAGP |
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 6:159,778,498...159,789,602
Ensembl chr 6:159,778,498...159,789,703
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G |
TMEM181 |
transmembrane protein 181 |
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IAGP |
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 6:158,536,640...158,635,429
Ensembl chr 6:158,536,436...158,635,433
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G |
TULP4 |
TUB like protein 4 |
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IAGP |
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 6:158,232,195...158,511,828
Ensembl chr 6:158,232,236...158,511,828
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G |
WTAP |
WT1 associated protein |
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IAGP |
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 6:159,726,693...159,756,319
Ensembl chr 6:159,725,585...159,756,319
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G |
TBX22 |
T-box transcription factor 22 |
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IAGP EXP |
ClinVar Annotator: match by term: Abruzzo-Erickson syndrome ClinVar Annotator: match by term: Abruzzo-Erickson syndrome | ClinVar Annotator: match by term: TBX22-related condition CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:839509 PMID:14729838 PMID:22784330 PMID:25741868 PMID:28492532 |
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NCBI chr X:80,014,753...80,031,774
Ensembl chr X:80,014,753...80,031,774
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G |
MT-CO1 |
mitochondrially encoded cytochrome c oxidase I |
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IAGP |
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:5,904...7,445
Ensembl chr MT:5,904...7,445
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G |
MT-ND1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
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IAGP |
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:3,307...4,262
Ensembl chr MT:3,307...4,262
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G |
MT-RNR1 |
mitochondrially encoded 12S rRNA |
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IAGP |
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:11079536 PMID:11174059 PMID:11230176 PMID:11313749 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:14681830 PMID:14699607 PMID:14755216 PMID:15466285 PMID:15555598 PMID:15637703 PMID:15708009 PMID:15722487 PMID:15841390 PMID:15917167 PMID:16152638 PMID:16168391 PMID:16375862 PMID:16380089 PMID:16458854 PMID:16528519 PMID:16631122 PMID:16650816 PMID:16782057 PMID:16826519 PMID:16875663 PMID:16935512 PMID:16955413 PMID:17085680 PMID:17341440 PMID:17434445 PMID:17637808 PMID:17698030 PMID:17698299 PMID:17723226 PMID:17999439 PMID:18261986 PMID:18386806 PMID:18636170 PMID:18790089 PMID:18820594 PMID:18830133 PMID:18983818 PMID:19196684 PMID:19196685 PMID:19376484 PMID:19475720 PMID:19682603 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:22735573 PMID:22879993 PMID:22992668 PMID:23256547 PMID:23525847 PMID:24033266 PMID:24252789 PMID:24651602 PMID:24703164 PMID:25155176 PMID:25474306 PMID:25515069 PMID:25741868 PMID:25744662 PMID:26497601 PMID:26822237 PMID:27397648 PMID:27427311 PMID:27654872 PMID:28049726 PMID:28520359 PMID:29805548 PMID:29876232 PMID:30693673 PMID:32906214 More...
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NCBI chr MT:648...1,601
Ensembl chr MT:648...1,601
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G |
MT-TS1 |
mitochondrially encoded tRNA-Ser (UCN) 1 |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY |
CTD ClinVar |
PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 PMID:8680405 PMID:9742104 PMID:10577941 PMID:14681830 PMID:15722487 PMID:16152638 PMID:16380089 PMID:17085680 PMID:17434445 PMID:17659260 PMID:17698030 PMID:17698299 PMID:18830133 PMID:19682603 PMID:20100600 PMID:20301595 PMID:20416460 PMID:21047563 PMID:21205314 PMID:22992668 PMID:25474306 PMID:25515069 PMID:25741868 PMID:27397648 PMID:27654872 PMID:28520359 PMID:29876232 PMID:30693673 PMID:32906214 More...
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NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514
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G |
TRMU |
tRNA mitochondrial 2-thiouridylase |
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IAGP EXP |
ClinVar Annotator: match by term: Aminoglycoside-induced deafness ClinVar Annotator: match by term: Aminoglycoside-induced deafness | ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of |
OMIM ClinVar CTD |
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 chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340
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G |
PITX2 |
paired like homeodomain 2 |
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IAGP |
DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) |
RGD |
PMID:17701896 |
RGD:12910562 |
NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
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G |
PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
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IAGP EXP |
ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE 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 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 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
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:107,628,510...107,651,026
Ensembl chr X:107,628,428...107,651,993
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G |
MT-TV |
mitochondrially encoded tRNA-Val (GUN) |
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IAGP |
ClinVar Annotator: match by term: Ataxia, progressive seizures, mental deterioration, and hearing loss |
ClinVar |
PMID:9450773 PMID:12056939 PMID:20064630 PMID:31965079 |
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NCBI chr MT:1,602...1,670
Ensembl chr MT:1,602...1,670
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G |
HOXA1 |
homeobox A1 |
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IAGP ISS EXP |
DNA:mutations:cds:185delG,175-176insG,76C>T(human) 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:601536 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:16155570 PMID:18412118 PMID:24239177 PMID:25741868 PMID:28492532 PMID:18412118 More...
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RGD:11553818 |
NCBI chr 7:27,092,993...27,096,000
Ensembl chr 7:27,092,993...27,096,000
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G |
HOXA2 |
homeobox A2 |
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IAGP |
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 chr 7:27,100,354...27,102,683
Ensembl chr 7:27,100,354...27,102,686
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G |
LOC113748384 |
Sharpr-MPRA regulatory region 2148 |
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IAGP |
ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome |
ClinVar |
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NCBI chr 7:27,095,970...27,096,264
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G |
AIFM1 |
apoptosis inducing factor mitochondria associated 1 |
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IAGP |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr X:130,129,362...130,165,841
Ensembl chr X:130,124,666...130,165,879
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G |
CACNA1A |
calcium voltage-gated channel subunit alpha1 A |
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IAGP |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489
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G |
CDH2 |
cadherin 2 |
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IAGP |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:28492532 |
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NCBI chr18:27,932,879...28,177,130
Ensembl chr18:27,932,879...28,177,946
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G |
FDXR |
ferredoxin reductase |
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IAGP |
ClinVar Annotator: match by term: Auditory dys-synchrony |
ClinVar |
PMID:25741868 PMID:28965846 PMID:29040572 |
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NCBI chr17:74,862,497...74,872,994
Ensembl chr17:74,862,497...74,873,031
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G |
KIF5A |
kinesin family member 5A |
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IAGP |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633
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G |
MFN2 |
mitofusin 2 |
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IAGP |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
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G |
MT-RNR1 |
mitochondrially encoded 12S rRNA |
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IAGP |
ClinVar Annotator: match by term: Auditory dys-synchrony |
ClinVar |
PMID:11079536 PMID:11313749 PMID:15466285 PMID:15555598 PMID:15637703 PMID:15841390 PMID:16528519 PMID:16875663 PMID:18636170 PMID:18830133 PMID:18983818 PMID:20100600 PMID:21205314 PMID:21495045 PMID:22735573 PMID:22992668 PMID:24033266 PMID:25515069 PMID:25741868 PMID:27654872 More...
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NCBI chr MT:648...1,601
Ensembl chr MT:648...1,601
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G |
MYO7A |
myosin VIIA |
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IAGP |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
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G |
NEFL |
neurofilament light chain |
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IAGP |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
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G |
NOTCH3 |
notch receptor 3 |
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IAGP |
ClinVar Annotator: match by term: Auditory dys-synchrony ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:25741868 |
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NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
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G |
OPA1 |
OPA1 mitochondrial dynamin like GTPase |
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IAGP |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811
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G |
OTOF |
otoferlin |
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IAGP |
ClinVar Annotator: match by term: Auditory neuropathy 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 chr 2:26,457,203...26,558,756
Ensembl chr 2:26,457,203...26,558,756
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G |
RAB33A |
RAB33A, member RAS oncogene family |
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IAGP |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr X:130,110,623...130,184,870
Ensembl chr X:130,171,962...130,184,870
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G |
SLC52A3 |
solute carrier family 52 member 3 |
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IAGP |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32579787 |
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NCBI chr20:760,080...780,033
Ensembl chr20:760,080...776,015
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G |
TIMM8A |
translocase of inner mitochondrial membrane 8A |
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IAGP |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:30634948 |
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NCBI chr X:101,345,661...101,348,742
Ensembl chr X:101,345,661...101,348,742
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G |
TP63 |
tumor protein p63 |
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IAGP |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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G |
TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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IAGP |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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G |
TWNK |
twinkle mtDNA helicase |
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IAGP |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:30818899 |
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NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
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G |
WFS1 |
wolframin ER transmembrane glycoprotein |
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IAGP |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:25741868 |
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NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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G |
HYAL3 |
hyaluronidase 3 |
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IAGP |
ClinVar Annotator: match by term: Auroneurodental syndrome |
ClinVar |
PMID:34805998 |
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NCBI chr 3:50,292,832...50,299,405
Ensembl chr 3:50,292,831...50,299,405
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G |
NAA80 |
N-alpha-acetyltransferase 80, NatH catalytic subunit |
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IAGP |
ClinVar Annotator: match by term: Auroneurodental syndrome |
ClinVar |
PMID:34805998 |
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NCBI chr 3:50,296,402...50,299,405
Ensembl chr 3:50,296,402...50,299,416
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G |
DIAPH3 |
diaphanous related formin 3 |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 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:609129 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:15520414 PMID:17576681 PMID:20624953 PMID:21220648 PMID:25741868 PMID:26467025 PMID:27658576 PMID:28492532 More...
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NCBI chr13:59,665,583...60,163,928
Ensembl chr13:59,665,583...60,163,928
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G |
DIAPH3-AS1 |
DIAPH3 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 |
ClinVar |
PMID:15520414 PMID:25741868 PMID:28492532 |
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NCBI chr13:60,012,718...60,044,357
Ensembl chr13:60,012,709...60,044,357
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G |
ATP11A |
ATPase phospholipid transporting 11A |
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IAGP |
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OMIM |
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NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168
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G |
TMEM43 |
transmembrane protein 43 |
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IAGP |
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:25333069 PMID:25343256 PMID:25351510 PMID:25676813 PMID:25741868 PMID:25820315 PMID:26467025 PMID:26743238 PMID:26840987 PMID:27153395 PMID:27301361 PMID:28301460 PMID:28471438 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 chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680
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G |
DNMT1 |
DNA methyltransferase 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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 chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286
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G |
LOC126862853 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:10246117-10247316 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:10,135,441...10,136,640
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G |
ATP6V1B2 |
ATPase H+ transporting V1 subunit B2 |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant OMIM:124480 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:24913193 PMID:25741868 PMID:28396750 PMID:30311386 PMID:31581539 PMID:31655144 More...
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NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,230,399
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G |
LOC129999955 |
ATAC-STARR-seq lymphoblastoid silent region 18971 |
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IAGP |
ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant |
ClinVar |
PMID:25741868 |
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NCBI chr 8:20,197,155...20,197,434
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G |
DSPP |
dentin sialophosphoprotein |
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IAGP EXP |
DNA:missense mutations:cds:p.P17T, p.V18P (human) ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 |
ClinVar CTD OMIM RGD |
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 PMID:11175790 More...
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RGD:12910984 |
NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873
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G |
LOC121852992 |
Sharpr-MPRA regulatory region 11309 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 4 |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,230,392...50,230,686
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G |
MYH14 |
myosin heavy chain 14 |
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IAGP |
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 chr19:50,203,622...50,310,540
Ensembl chr19:50,188,186...50,310,542
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G |
GJB2 |
gap junction protein beta 2 |
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ISO IAGP ISS EXP |
p.S17F(mouse) ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant OMIM:148210 CTD Direct Evidence: marker/mechanism p.G45E(mouse) DNA:mutation:cd:p.D50N(human) DNA:mutation:cds:p.N14K(human) DNA:mutations:cds:p.G11E,p.D50N(human) |
ClinVar MouseDO CTD OMIM RGD |
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: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:10704187 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:12112666 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:12457340 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:12885339 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14643477 PMID:14676473 PMID:14681040 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:15482471 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:16575343 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:17041943 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17255958 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:17567887 PMID:17576681 PMID:17581693 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18024254 PMID:18167282 PMID:18196482 PMID:18294064 PMID:18324688 PMID:18414213 PMID:18451998 PMID:18560174 PMID:18570691 PMID:18668259 PMID:18684989 PMID:18758381 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:19390476 PMID:19465004 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19719946 PMID:19723508 PMID:19744334 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:20096356 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:21040787 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:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21738759 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21836520 PMID:21844220 PMID:21910243 PMID:21912263 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22031297 PMID:22037723 PMID:22103400 PMID:22106692 PMID:22208444 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:23266159 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:23812555 PMID:23826813 PMID:23856378 PMID:23873582 PMID:23900770 PMID:23924173 PMID:23967136 PMID:23967202 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24078562 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24224790 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 PMID:24372583 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:24941117 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: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:27067584 PMID:27087580 PMID:27141831 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 PMID:27398341 PMID:27466889 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:28263784 PMID:28271504 PMID:28383030 PMID:28405014 PMID:28428247 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28651654 PMID:28704896 PMID:28900111 PMID:28900455 PMID:29062245 PMID:29086887 PMID:29106882 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29542069 PMID:29605365 PMID:29625052 PMID:29665173 PMID:29754767 PMID:29773520 PMID:29871260 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30068397 PMID:30086704 PMID:30094485 PMID:30146550 PMID:30168495 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30466042 PMID:30589569 PMID:30693673 PMID:30733538 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: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:34599368 PMID:34652575 PMID:35016843 PMID:35336849 PMID:35396755 PMID:35864128 PMID:36048236 PMID:36190904 PMID:36474027 PMID:36579563 PMID:36597107 PMID:36672810 PMID:36788145 PMID:37239361 PMID:38730444 PMID:38831582 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 PMID:20926451 PMID:22031297 PMID:23924173 PMID:18950394 PMID:20307501 More...
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RGD:7364809, RGD:7364889, RGD:7364885, RGD:7364813, RGD:7364811 |
NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
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G |
ATOH1 |
atonal bHLH transcription factor 1 |
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IAGP |
ClinVar Annotator: match by term: Dominant progressive sensorineural hearing loss |
ClinVar |
PMID:25741868 PMID:33111345 |
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NCBI chr 4:93,828,753...93,830,964
Ensembl chr 4:93,828,753...93,830,964
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G |
ATP2B2 |
ATPase plasma membrane Ca2+ transporting 2 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
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NCBI chr 3:10,324,023...10,708,007
Ensembl chr 3:10,324,023...10,708,007
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G |
DIABLO |
diablo IAP-binding mitochondrial protein |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 |
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NCBI chr12:122,207,662...122,227,456
Ensembl chr12:122,207,668...122,226,062
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G |
GREB1L |
GREB1 like retinoic acid receptor coactivator |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 PMID:32585897 |
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NCBI chr18:21,242,232...21,526,112
Ensembl chr18:21,242,232...21,526,112
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G |
GREB1L-AS1 |
GREB1L antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 PMID:32585897 |
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NCBI chr18:21,380,044...21,451,047
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G |
MITF |
melanocyte inducing transcription factor |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 |
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NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336
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G |
MYO6 |
myosin VI |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 |
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NCBI chr 6:75,749,239...75,919,537
Ensembl chr 6:75,749,201...75,919,537
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G |
P2RX2 |
purinergic receptor P2X 2 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:30311386 |
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NCBI chr12:132,618,776...132,622,388
Ensembl chr12:132,618,776...132,622,388
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G |
PDE1C |
phosphodiesterase 1C |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:29860631 |
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NCBI chr 7:31,616,777...32,428,224
Ensembl chr 7:31,751,179...32,428,131
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G |
PLS1 |
plastin 1 |
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IAGP |
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 chr 3:142,596,393...142,713,664
Ensembl chr 3:142,596,393...142,713,664
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G |
REST |
RE1 silencing transcription factor |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 PMID:34828371 |
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NCBI chr 4:56,907,900...56,935,844
Ensembl chr 4:56,907,876...56,966,808
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G |
SIX1 |
SIX homeobox 1 |
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IAGP |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 |
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NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259
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G |
WFS1 |
wolframin ER transmembrane glycoprotein |
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IAGP |
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:27045389 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 chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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G |
DIAPH1 |
diaphanous related formin 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA | ClinVar Annotator: match by term: Deafness, autosomal dominant 1 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 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA | ClinVar Annotator: match by term: Deafness, autosomal dominant 1 | ClinVar Annotator: match by term: KONIGSMARK SYNDROME CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
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 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055
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G |
EYA4 |
EYA transcriptional coactivator and phosphatase 4 |
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IAGP EXP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 10 ClinVar Annotator: match by term: Deafness, autosomal dominant 10 | ClinVar Annotator: match by term: EYA4-Related Disorders CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
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 6:133,240,593...133,532,128
Ensembl chr 6:133,240,514...133,532,128
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G |
LOC126859796 |
MED14-independent group 3 enhancer GRCh37_chr6:133826289-133827488 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 10 ClinVar Annotator: match by term: EYA4-Related Disorders |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:28798025 PMID:30311386 PMID:32107406 PMID:32277154 PMID:33745059 More...
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NCBI chr 6:133,505,151...133,506,350
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G |
TARID |
TCF21 antisense RNA inducing promoter demethylation |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 10 ClinVar Annotator: match by term: EYA4-Related Disorders ClinVar Annotator: match by term: Deafness, autosomal dominant 10 | ClinVar Annotator: match by term: EYA4-Related Disorders |
ClinVar |
PMID:11159937 PMID:15735644 PMID:16199547 PMID:17567890 PMID:17568404 PMID:23861362 PMID:24033266 PMID:25681523 PMID:25741868 PMID:25781927 PMID:25963406 PMID:28492532 PMID:28798025 PMID:29030401 PMID:30311386 PMID:32107406 PMID:32277154 PMID:33745059 More...
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NCBI chr 6:133,502,252...133,889,006
Ensembl chr 6:133,485,013...133,953,083
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G |
MYO7A |
myosin VIIA |
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IAGP EXP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 11 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 PMID:9259201 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:16283880 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:19375528 PMID:19461658 PMID:19683999 PMID:19888295 PMID:20052763 PMID:20146813 PMID:20497194 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21117948 PMID:21150918 PMID:21311020 PMID:21436283 PMID:21487335 PMID:21569298 PMID:21738395 PMID:21873662 PMID:22135276 PMID:22681893 PMID:22690115 PMID:22785243 PMID:22903915 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:24164807 PMID:24199935 PMID:24498627 PMID:24618850 PMID:24831256 PMID:24853665 PMID:24875298 PMID:25080338 PMID:25133751 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:26445815 PMID:26467025 PMID:26486028 PMID:26561413 PMID:26633542 PMID:26791358 PMID:26864046 PMID:26872967 PMID:26969326 PMID:27068579 PMID:27160483 PMID:27208204 PMID:27344577 PMID:27460420 PMID:27573290 PMID:27583663 PMID:27610647 PMID:27729122 PMID:27743452 PMID:27766948 PMID:27884173 PMID:27911912 PMID:27957503 PMID:28000701 PMID:28041643 PMID:28451532 PMID:28472130 PMID:28492532 PMID:28559085 PMID:28731162 PMID:28802369 PMID:28944237 PMID:29048421 PMID:29099798 PMID:29142287 PMID:29178603 PMID:29196752 PMID:29276601 PMID:29490346 PMID:29625443 PMID:29692870 PMID:30029497 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30337596 PMID:30358468 PMID:30390570 PMID:30459346 PMID:30718709 PMID:30733538 PMID:30826590 PMID:30828346 PMID:30872718 PMID:30881389 PMID:31035849 PMID:31152317 PMID:31266775 PMID:31456290 PMID:31479088 PMID:31541171 PMID:31589614 PMID:31816670 PMID:31847883 PMID:31850270 PMID:31963381 PMID:31964843 PMID:31980526 PMID:32097363 PMID:32467589 PMID:32483926 PMID:32531858 PMID:32581362 PMID:32681043 PMID:32747562 PMID:32795431 PMID:32853555 PMID:32860223 PMID:32981126 PMID:33089500 PMID:33105617 PMID:33111345 PMID:33187236 PMID:33269433 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:36164746 PMID:36460718 PMID:36484953 PMID:36555390 PMID:36633841 PMID:36672771 PMID:36909829 PMID:37466950 PMID:37727480 PMID:37811145 PMID:38189974 More...
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NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
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G |
LOC126861365 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:121000154-121001353 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 12 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12 |
ClinVar |
PMID:9949200 PMID:20947814 PMID:21520338 PMID:24033266 PMID:25262649 PMID:25741868 PMID:27068579 PMID:28492532 PMID:28946916 PMID:29196752 PMID:31554319 More...
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NCBI chr11:121,129,445...121,130,644
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G |
TBCEL-TECTA |
TBCEL-TECTA readthrough |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 12 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12 |
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 chr11:121,024,102...121,191,490
Ensembl chr11:121,024,125...121,113,108
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G |
TECTA |
tectorin alpha |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 12 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12 OMIM:601543 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM |
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 chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490
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G |
COL11A2 |
collagen type XI alpha 2 chain |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 13 OMIM:601868 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM |
PMID:9536098 PMID:10581026 PMID:10677296 PMID:15372529 PMID:15558753 PMID:16033917 PMID:16199547 PMID:17576681 PMID:21204229 PMID:22246659 PMID:23967202 PMID:24033266 PMID:25633957 PMID:25741868 PMID:26445815 PMID:26969326 PMID:28492532 PMID:29456477 PMID:29907799 PMID:30311386 PMID:31299979 PMID:31680349 PMID:33105617 PMID:33111345 PMID:35741851 PMID:35802133 PMID:36633841 More...
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NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499
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G |
LOC127814297 |
RBM27-POU4F3 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 15 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 52 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 |
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 5:146,203,605...146,341,728
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G |
POU4F3 |
POU class 4 homeobox 3 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 15 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 52 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 |
ClinVar OMIM |
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 5:146,338,839...146,341,728
Ensembl chr 5:146,338,839...146,341,728
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G |
STRC |
stereocilin |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 16 |
ClinVar |
PMID:22147502 PMID:24033266 PMID:25741868 PMID:26969326 |
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NCBI chr15:43,599,563...43,618,800
Ensembl chr15:43,599,563...43,618,800
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G |
LOC112695089 |
Sharpr-MPRA regulatory region 2056 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 17 |
ClinVar |
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NCBI chr22:36,387,611...36,388,278
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G |
LOC126863137 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:36696002-36697201 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 17 ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr22:36,299,956...36,301,155
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MYH9 |
myosin heavy chain 9 |
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IAGP EXP |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration 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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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 chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010
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ACTG1 |
actin gamma 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 20 ClinVar Annotator: match by term: ACTG1-related disorder | ClinVar Annotator: match by term: Deafness, autosomal dominant 20 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
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 chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847
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G |
LOC130061940 |
ATAC-STARR-seq lymphoblastoid active region 12964 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 20 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29357087 PMID:29620237 More...
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NCBI chr17:81,512,245...81,512,334
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G |
RIPOR2 |
RHO family interacting cell polarization regulator 2 |
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IAGP EXP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 21 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10764236 PMID:25741868 PMID:28492532 PMID:32631815 |
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NCBI chr 6:24,804,284...25,042,168
Ensembl chr 6:24,804,282...25,042,170
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G |
BIN1 |
bridging integrator 1 |
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IAGP |
ClinVar Annotator: match by term: DFNA 22 |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288
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G |
MYO6 |
myosin VI |
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IAGP ISS |
ClinVar Annotator: match by term: Deafness, autosomal dominant 22 ClinVar Annotator: match by term: DFNA 22 ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DFNA 22 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 ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant 22 OMIM:606346 |
ClinVar MouseDO OMIM |
PMID:9536098 PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 PMID:16199547 PMID:17576681 PMID:18212818 PMID:18348273 PMID:21078986 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 chr 6:75,749,239...75,919,537
Ensembl chr 6:75,749,201...75,919,537
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G |
LOC130055766 |
ATAC-STARR-seq lymphoblastoid silent region 5813 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 23 |
ClinVar |
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NCBI chr14:60,649,394...60,649,633
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MIR9718 |
microRNA 9718 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 23 |
ClinVar |
PMID:25741868 |
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NCBI chr14:60,648,648...60,648,711
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G |
SIX1 |
SIX homeobox 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 23 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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 chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259
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G |
SLC17A8 |
solute carrier family 17 member 8 |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 25 ClinVar Annotator: match by term: Deafness, autosomal dominant 25 | ClinVar Annotator: match by term: SLC17A8-related condition OMIM:605583 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:11115382 PMID:18674745 PMID:23967202 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26797701 PMID:28492532 PMID:33229591 More...
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NCBI chr12:100,357,074...100,422,055
Ensembl chr12:100,357,074...100,422,055
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G |
TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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ISS |
OMIM:605583 |
MouseDO |
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NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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G |
REST |
RE1 silencing transcription factor |
susceptibility |
IAGP |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 27 ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 27 | ClinVar Annotator: match by term: Deafness, autosomal dominant 27 |
ClinVar OMIM |
PMID:25741868 PMID:28492532 PMID:29961578 PMID:34828371 |
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NCBI chr 4:56,907,900...56,935,844
Ensembl chr 4:56,907,876...56,966,808
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G |
GRHL2 |
grainyhead like transcription factor 2 |
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IAGP EXP |
DNA:nonsense mutation:exon: ClinVar Annotator: match by term: Deafness, autosomal dominant 28 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:12393799 PMID:23813623 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 PMID:12393799 More...
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RGD:1599382 |
NCBI chr 8:101,492,439...101,681,200
Ensembl chr 8:101,492,439...101,669,726
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G |
LOC126860461 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:102655529-102656728 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 28 |
ClinVar |
PMID:12393799 |
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NCBI chr 8:101,643,301...101,644,505
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G |
KCNQ4 |
potassium voltage-gated channel subfamily Q member 4 |
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IAGP EXP |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: Deafness, autosomal dominant 2A 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 ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: KCNQ4-related condition 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: KCNQ4-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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 chr 1:40,783,787...40,840,452
Ensembl chr 1:40,783,787...40,840,452
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G |
LOC129930282 |
ATAC-STARR-seq lymphoblastoid active region 855 |
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IAGP |
ClinVar Annotator: match by term: KCNQ4-related condition |
ClinVar |
PMID:20301388 PMID:26036578 PMID:28492532 |
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NCBI chr 1:40,818,503...40,818,552
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G |
GJB3 |
gap junction protein beta 3 |
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IAGP EXP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 2b CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
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 chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369
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G |
MYO3A |
myosin IIIA |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 30 |
ClinVar |
PMID:32519820 |
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NCBI chr10:25,934,229...26,212,532
Ensembl chr10:25,934,229...26,212,532
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G |
ATP11A |
ATPase phospholipid transporting 11A |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 33 |
ClinVar |
PMID:25741868 PMID:30311386 PMID:35278131 |
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NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168
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G |
COL11A2 |
collagen type XI alpha 2 chain |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 33 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499
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G |
NLRP3 |
NLR family pyrin domain containing 3 |
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IAGP |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION | 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:21058222 PMID:21109514 PMID:21810457 PMID:22146561 PMID:22566169 PMID:23421920 PMID:24033266 PMID:24123366 PMID:24135410 PMID:25038238 PMID:25596455 PMID:25741868 PMID:26020059 PMID:26386126 PMID:26467025 PMID:26531310 PMID:27191192 PMID:27612399 PMID:27994174 PMID:28421071 PMID:28492532 PMID:28692792 PMID:28847925 PMID:29159471 PMID:29922587 PMID:30311386 PMID:30407166 PMID:30808881 PMID:32082075 PMID:33329557 More...
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NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108
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G |
TMC1 |
transmembrane channel like 1 |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 36 ClinVar Annotator: match by term: Deafness, autosomal dominant 36 | ClinVar Annotator: match by term: TMC1-related condition OMIM:606705 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM |
PMID:9536098 PMID:11850618 PMID:15354000 PMID:15605408 PMID:16134132 PMID:16199547 PMID:16287143 PMID:17250663 PMID:17576681 PMID:17877751 PMID:18259073 PMID:18414213 PMID:18616530 PMID:19180119 PMID:19187973 PMID:20373850 PMID:21250555 PMID:21252500 PMID:21917145 PMID:22105175 PMID:22607986 PMID:23208854 PMID:23767834 PMID:24033266 PMID:24416283 PMID:24498627 PMID:24827932 PMID:24933710 PMID:24949729 PMID:25074487 PMID:25388789 PMID:25423259 PMID:25491636 PMID:25525159 PMID:25741868 PMID:26011067 PMID:26467025 PMID:26561413 PMID:26879195 PMID:26969326 PMID:27068579 PMID:28492532 PMID:28501645 PMID:29196752 PMID:29533536 PMID:29654653 PMID:30303587 PMID:30311386 PMID:30896630 PMID:31028865 PMID:31541171 PMID:31814694 PMID:31854501 PMID:32747562 PMID:32860223 PMID:33095980 PMID:33111345 PMID:33168709 PMID:33524517 PMID:33724713 PMID:34416374 PMID:34523024 PMID:35407445 PMID:36597107 PMID:38066485 More...
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NCBI chr 9:72,521,608...72,838,297
Ensembl chr 9:72,521,608...72,838,297
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G |
USH2A |
usherin |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 36 |
ClinVar |
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NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
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G |
COL11A1 |
collagen type XI alpha 1 chain |
susceptibility |
IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 37 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 37 | ClinVar Annotator: match by term: Deafness, autosomal dominant 37 |
ClinVar OMIM |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17999364 PMID:20513134 PMID:21035103 PMID:21668896 PMID:23922384 PMID:25240749 PMID:25741868 PMID:26377240 PMID:28315471 PMID:28492532 PMID:29620724 PMID:30245514 PMID:30311386 PMID:32381727 PMID:32427345 PMID:32578940 PMID:32756486 PMID:33169910 PMID:33348901 PMID:33605226 PMID:33951325 PMID:34515852 More...
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NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
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G |
LOC126805814 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:103344928-103346127 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 37 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 37 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:102,879,372...102,880,571
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G |
GJB2 |
gap junction protein beta 2 |
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IAGP EXP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3a CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
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: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: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:12885339 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 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:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15482471 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: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:16575343 PMID:16645853 PMID:16650073 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16885744 PMID:16931589 PMID:16945493 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17255958 PMID:17309986 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17428836 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:18024254 PMID:18167282 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: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: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:21292415 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:21912263 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: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: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: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:25692760 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:27067584 PMID:27087580 PMID:27153395 PMID:27169813 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 PMID:27316387 PMID:27398341 PMID:27466889 PMID:27481527 PMID:27501294 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:28489599 PMID:28492532 PMID:28583500 PMID:28640090 PMID:28651654 PMID:28704896 PMID:28900111 PMID:28900455 PMID:29062245 PMID:29086887 PMID:29106882 PMID:29140768 PMID:29148562 PMID:29196752 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29542069 PMID:29605365 PMID:29625052 PMID:29665173 PMID:29754767 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:30733538 PMID:30762455 PMID:30828346 PMID:30872814 PMID:30896630 PMID:30989077 PMID:31035178 PMID:31053783 PMID:31099403 PMID:31160754 PMID:31162818 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:32120898 PMID:32258544 PMID:32300592 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:34599368 PMID:34652575 PMID:35016843 PMID:35182233 PMID:35301649 PMID:35336849 PMID:35396755 PMID:35761346 PMID:35864128 PMID:36048236 PMID:36190904 PMID:36474027 PMID:36579563 PMID:36597107 PMID:36672810 PMID:36788145 PMID:37239361 PMID:38730444 PMID:38831582 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 More...
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NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
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G |
GJB4 |
gap junction protein beta 4 |
|
IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3a |
ClinVar |
PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:34,759,740...34,762,327
Ensembl chr 1:34,759,740...34,762,327
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G |
CRYL1 |
crystallin lambda 1 |
|
IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:27480936 PMID:28492532 |
|
NCBI chr13:20,403,669...20,525,857
Ensembl chr13:20,403,666...20,525,873
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G |
EEF1AKMT1 |
EEF1A lysine methyltransferase 1 |
|
IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
|
NCBI chr13:20,728,731...20,773,961
Ensembl chr13:20,728,731...20,773,961
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G |
GJA3 |
gap junction protein alpha 3 |
|
IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
|
NCBI chr13:20,138,255...20,161,565
Ensembl chr13:20,138,255...20,161,052
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G |
GJB2 |
gap junction protein beta 2 |
|
IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
|
NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
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G |
GJB6 |
gap junction protein beta 6 |
|
IAGP EXP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
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 chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365
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G |
IFT88 |
intraflagellar transport 88 |
|
IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444
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G |
IL17D |
interleukin 17D |
|
IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,701,513...20,723,098
Ensembl chr13:20,702,127...20,723,098
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G |
LOC112163647 |
Sharpr-MPRA regulatory region 6807 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,506,870...20,507,164
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G |
LOC121466728 |
Sharpr-MPRA regulatory region 3329 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,534,370...20,534,664
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G |
LOC124849292 |
Sharpr-MPRA regulatory region 1468 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,717,550...20,717,844
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G |
LOC126861703 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:20748586-20749785 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,174,447...20,175,646
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G |
LOC126861704 |
BRD4-independent group 4 enhancer GRCh37_chr13:20953976-20955175 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,379,837...20,381,036
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G |
LOC126861705 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:20993166-20994365 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,419,027...20,420,226
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G |
LOC130009312 |
ATAC-STARR-seq lymphoblastoid silent region 5150 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,160,783...20,160,872
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G |
LOC130009313 |
ATAC-STARR-seq lymphoblastoid silent region 5151 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,161,033...20,161,112
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G |
LOC130009314 |
ATAC-STARR-seq lymphoblastoid silent region 5152 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,161,343...20,161,702
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G |
LOC130009315 |
ATAC-STARR-seq lymphoblastoid active region 7417 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,219,572...20,219,751
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G |
LOC130009316 |
ATAC-STARR-seq lymphoblastoid active region 7418 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,425,154...20,425,203
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G |
LOC130009317 |
ATAC-STARR-seq lymphoblastoid active region 7419 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,425,214...20,425,453
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G |
LOC130009318 |
ATAC-STARR-seq lymphoblastoid active region 7420 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,425,886...20,425,945
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G |
LOC130009319 |
ATAC-STARR-seq lymphoblastoid active region 7421 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,426,006...20,426,065
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G |
LOC130009320 |
ATAC-STARR-seq lymphoblastoid active region 7422 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,476,106...20,476,305
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G |
LOC130009321 |
ATAC-STARR-seq lymphoblastoid active region 7423 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,476,376...20,476,425
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G |
LOC130009322 |
ATAC-STARR-seq lymphoblastoid silent region 5153 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,525,533...20,526,082
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G |
LOC130009323 |
ATAC-STARR-seq lymphoblastoid active region 7424 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,526,263...20,526,372
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G |
LOC130009324 |
ATAC-STARR-seq lymphoblastoid active region 7425 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,528,721...20,528,830
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G |
LOC130009325 |
ATAC-STARR-seq lymphoblastoid silent region 5154 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,566,857...20,567,266
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G |
LOC130009326 |
ATAC-STARR-seq lymphoblastoid silent region 5155 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,703,081...20,703,160
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G |
LOC130009327 |
ATAC-STARR-seq lymphoblastoid silent region 5156 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,703,581...20,703,720
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G |
LOC130009328 |
ATAC-STARR-seq lymphoblastoid silent region 5157 |
|
IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,704,011...20,704,520
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G |
LOC130009329 |
ATAC-STARR-seq lymphoblastoid active region 7426 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,773,316...20,773,535
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G |
LOC132090175 |
Neanderthal introgressed variant-containing enhancer experimental_32461 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,273,378...20,273,547
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G |
MIR4499 |
microRNA 4499 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,433,778...20,433,846
Ensembl chr13:20,433,778...20,433,846
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G |
XPO4 |
exportin 4 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr13:20,777,329...20,902,774
Ensembl chr13:20,777,329...20,903,048
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G |
CRYM |
crystallin mu |
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IAGP |
ClinVar Annotator: match by term: CRYM-related condition ClinVar Annotator: match by term: Deafness, autosomal dominant 40 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 chr16:21,258,521...21,303,062
Ensembl chr16:21,238,874...21,303,083
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G |
LOC130058620 |
ATAC-STARR-seq lymphoblastoid active region 10553 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 40 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:21,278,082...21,278,291
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G |
P2RX2 |
purinergic receptor P2X 2 |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 41 ClinVar Annotator: match by term: P2RX2-related condition OMIM:608224 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM |
PMID:12161595 PMID:23345450 PMID:24033266 PMID:24211385 PMID:25741868 PMID:25788561 PMID:26467025 PMID:28492532 PMID:31636190 More...
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NCBI chr12:132,618,776...132,622,388
Ensembl chr12:132,618,776...132,622,388
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G |
CCDC50 |
coiled-coil domain containing 50 |
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IAGP EXP |
DNA:duplication:cds:c.1394_1401dupCACGGCAT(human) ClinVar Annotator: match by term: Deafness, autosomal dominant 44 ClinVar Annotator: match by term: CCDC50-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 44 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:12483295 PMID:17503326 PMID:24033266 PMID:24875298 PMID:25741868 PMID:28492532 PMID:30311386 PMID:17503326 More...
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RGD:9685138 |
NCBI chr 3:191,329,394...191,398,659
Ensembl chr 3:191,329,085...191,398,659
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G |
LOC126861538 |
BRD4-independent group 4 enhancer GRCh37_chr12:57440635-57441834 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 48 |
ClinVar |
PMID:12736868 PMID:24033266 PMID:24616153 |
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NCBI chr12:57,046,851...57,048,050
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G |
MYO1A |
myosin IA |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 48 |
ClinVar |
PMID:12736868 PMID:24033266 PMID:24616153 PMID:25741868 |
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NCBI chr12:57,028,517...57,051,198
Ensembl chr12:57,028,517...57,051,198
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G |
CEACAM16 |
CEA cell adhesion molecule 16, tectorial membrane component |
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ISS |
OMIM:600652 |
MouseDO |
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NCBI chr19:44,699,151...44,710,718
Ensembl chr19:44,699,151...44,710,718
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G |
LOC121852992 |
Sharpr-MPRA regulatory region 11309 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 4A |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,230,392...50,230,686
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G |
MYH14 |
myosin heavy chain 14 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 4A | ClinVar Annotator: match by term: MYH14-related condition ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 4A | ClinVar Annotator: match by term: Deafness, autosomal dominant 4A |
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 chr19:50,203,622...50,310,540
Ensembl chr19:50,188,186...50,310,542
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G |
CEACAM16 |
CEA cell adhesion molecule 16, tectorial membrane component |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 4b ClinVar Annotator: match by term: CEACAM16-related condition ClinVar Annotator: match by term: CEACAM16-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 4b |
ClinVar OMIM |
PMID:7655461 PMID:21368133 PMID:24033266 PMID:25589040 PMID:25741868 PMID:28492532 PMID:30311386 PMID:35802133 PMID:36633841 More...
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NCBI chr19:44,699,151...44,710,718
Ensembl chr19:44,699,151...44,710,718
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G |
CEACAM16-AS1 |
CEACAM16, CEACAM19 and PVR antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 4b ClinVar Annotator: match by term: CEACAM16-related condition ClinVar Annotator: match by term: CEACAM16-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 4b |
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 chr19:44,699,038...44,725,184
Ensembl chr19:44,608,568...44,725,315
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G |
GSDME |
gasdermin E |
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IAGP EXP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 5 ClinVar Annotator: match by term: Deafness, autosomal dominant 5 | ClinVar Annotator: match by term: GSDME-related condition CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
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 chr 7:24,698,355...24,795,539
Ensembl chr 7:24,698,355...24,757,940
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G |
LOC129998098 |
ATAC-STARR-seq lymphoblastoid active region 25750 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 5 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:24,718,874...24,719,063
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G |
LOC129998104 |
ATAC-STARR-seq lymphoblastoid active region 25754 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 5 |
ClinVar |
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NCBI chr 7:24,757,734...24,757,963
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G |
MIR96 |
microRNA 96 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 50 ClinVar Annotator: match by term: MIR96-related condition |
ClinVar OMIM |
PMID:14757864 PMID:19363479 PMID:24033266 |
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NCBI chr 7:129,774,692...129,774,769
Ensembl chr 7:129,774,692...129,774,769
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G |
LOC124292588 |
Sharpr-MPRA regulatory region 4978 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 51 |
ClinVar |
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NCBI chr 9:69,204,473...69,204,767
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G |
LOC130001864 |
ATAC-STARR-seq lymphoblastoid silent region 19932 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 51 |
ClinVar |
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NCBI chr 9:69,121,690...69,121,859
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G |
LOC130001865 |
ATAC-STARR-seq lymphoblastoid active region 28446 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 51 |
ClinVar |
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NCBI chr 9:69,155,380...69,155,439
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G |
LOC130001866 |
ATAC-STARR-seq lymphoblastoid silent region 19933 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 51 |
ClinVar |
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NCBI chr 9:69,173,866...69,174,295
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G |
LOC130001867 |
ATAC-STARR-seq lymphoblastoid active region 28447 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 51 |
ClinVar |
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NCBI chr 9:69,175,186...69,175,375
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G |
TJP2 |
tight junction protein 2 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar Annotator: match by term: CHROMOSOME 9q21.11 DUPLICATION SYNDROME |
ClinVar |
PMID:20602916 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28924228 PMID:29238877 More...
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NCBI chr 9:69,121,264...69,255,208
Ensembl chr 9:69,121,264...69,274,615
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G |
DELEC1 |
deleted in esophageal cancer 1 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 56 |
ClinVar |
PMID:21681106 PMID:23936043 |
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NCBI chr 9:115,141,818...115,402,644
Ensembl chr 9:114,850,968...115,402,644
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G |
LOC126860740 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:117797665-117798864 |
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IAGP |
ClinVar Annotator: match by term: TNC-related condition |
ClinVar |
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NCBI chr 9:115,035,386...115,036,585
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G |
LOC126860741 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:117825442-117826641 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 56 | ClinVar Annotator: match by term: TNC-related condition |
ClinVar |
PMID:25741868 PMID:28492532 PMID:36597107 |
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NCBI chr 9:115,063,163...115,064,362
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G |
PAPPA |
pappalysin 1 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 56 |
ClinVar |
PMID:21681106 PMID:23936043 |
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NCBI chr 9:116,153,791...116,402,321
Ensembl chr 9:116,153,791...116,402,321
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G |
TNC |
tenascin C |
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IAGP |
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 chr 9:115,019,575...115,118,157
Ensembl chr 9:115,019,575...115,118,207
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G |
TNFSF8 |
TNF superfamily member 8 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 56 |
ClinVar |
PMID:21681106 PMID:23936043 |
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NCBI chr 9:114,893,343...114,930,595
Ensembl chr 9:114,893,343...114,930,595
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G |
CNRIP1 |
cannabinoid receptor interacting protein 1 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr 2:68,284,171...68,319,949
Ensembl chr 2:68,284,171...68,320,051
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G |
LOC101927723 |
uncharacterized LOC101927723 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr 2:68,361,217...68,366,404
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G |
LOC115945159 |
CRISPRi-validated cis-regulatory element chr2.2452 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr 2:68,352,631...68,353,045
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G |
LOC122757962 |
Sharpr-MPRA regulatory region 10638 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr 2:68,303,277...68,303,571
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G |
LOC129933976 |
ATAC-STARR-seq lymphoblastoid silent region 11586 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr 2:68,251,852...68,251,961
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G |
LOC129933977 |
ATAC-STARR-seq lymphoblastoid silent region 11587 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr 2:68,252,142...68,252,191
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G |
LOC129933978 |
ATAC-STARR-seq lymphoblastoid silent region 11588 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr 2:68,252,452...68,252,891
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G |
LOC129933979 |
ATAC-STARR-seq lymphoblastoid silent region 11589 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr 2:68,295,615...68,295,714
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G |
LOC129933980 |
ATAC-STARR-seq lymphoblastoid active region 15948 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr 2:68,362,241...68,362,310
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G |
LOC129933981 |
ATAC-STARR-seq lymphoblastoid active region 15949 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr 2:68,365,242...68,365,321
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G |
LOC129933982 |
ATAC-STARR-seq lymphoblastoid active region 15950 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr 2:68,387,276...68,387,455
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G |
LOC129933983 |
ATAC-STARR-seq lymphoblastoid active region 15951 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr 2:68,387,476...68,387,895
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G |
LOC129933984 |
ATAC-STARR-seq lymphoblastoid active region 15952 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr 2:68,389,146...68,389,195
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G |
LOC129933985 |
ATAC-STARR-seq lymphoblastoid silent region 11590 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr 2:68,405,160...68,405,209
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G |
LOC129933986 |
ATAC-STARR-seq lymphoblastoid silent region 11591 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr 2:68,423,464...68,423,533
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G |
LOC129933987 |
ATAC-STARR-seq lymphoblastoid active region 15953 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr 2:68,423,874...68,424,113
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G |
LOC129933988 |
ATAC-STARR-seq lymphoblastoid active region 15954 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr 2:68,424,234...68,424,343
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G |
LOC129933989 |
ATAC-STARR-seq lymphoblastoid active region 15955 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr 2:68,441,421...68,441,470
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G |
LOC129933990 |
ATAC-STARR-seq lymphoblastoid active region 15956 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr 2:68,441,561...68,441,610
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G |
LOC129933991 |
ATAC-STARR-seq lymphoblastoid silent region 11592 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr 2:68,441,801...68,442,040
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G |
LOC132088853 |
Neanderthal introgressed variant-containing enhancer experimental_59162 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr 2:68,219,719...68,219,888
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G |
LOC132088854 |
Neanderthal introgressed variant-containing enhancer experimental_59182 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr 2:68,230,356...68,230,525
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G |
PLEK |
pleckstrin |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr 2:68,365,282...68,397,453
Ensembl chr 2:68,365,282...68,397,453
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G |
PPP3R1 |
protein phosphatase 3 regulatory subunit B, alpha |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr 2:68,178,857...68,252,532
Ensembl chr 2:68,178,857...68,256,237
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G |
LOC129992166 |
ATAC-STARR-seq lymphoblastoid silent region 15229 |
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IAGP |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38 ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38 |
ClinVar |
PMID:12955714 PMID:17603484 PMID:18060660 PMID:20301750 PMID:20738327 PMID:33879153 More...
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NCBI chr 4:6,269,828...6,269,937
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G |
WFS1 |
wolframin ER transmembrane glycoprotein |
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IAGP EXP |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:3126496 PMID:3442652 PMID:3478949 PMID:8595423 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:11811080 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12181639 PMID:12490066 PMID:12565131 PMID:12707188 PMID:12707373 PMID:12754709 PMID:12782971 PMID:12913071 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:19344068 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:22226368 PMID:22238590 PMID:22781099 PMID:22938506 PMID:23257691 PMID:23373429 PMID:23429432 PMID:23535966 PMID:23595122 PMID:23596069 PMID:23845777 PMID:23856252 PMID:23981289 PMID:23990876 PMID:24033266 PMID:24875298 PMID:24890733 PMID:24909696 PMID:25048417 PMID:25133958 PMID:25173644 PMID:25211237 PMID:25262649 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:27045389 PMID:27068579 PMID:27167055 PMID:27185633 PMID:27395765 PMID:27468121 PMID:27617222 PMID:27810688 PMID:27911912 PMID:27959697 PMID:28432734 PMID:28492532 PMID:28559085 PMID:28802351 PMID:28870582 PMID:28974383 PMID:28993341 PMID:29207974 PMID:29529044 PMID:29549887 PMID:29563951 PMID:29632382 PMID:29988211 PMID:30014265 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30476936 PMID:30577886 PMID:30773290 PMID:30872718 PMID:30957632 PMID:31264968 PMID:31266054 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:33763535 PMID:33841295 PMID:33879153 PMID:33980734 PMID:34258273 PMID:34356170 PMID:34404380 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:35018440 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 PMID:37719678 PMID:38400873 More...
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NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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B3GNT4 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 64 ClinVar Annotator: match by term: DIABLO-related condition |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr12:122,203,709...122,208,952
Ensembl chr12:122,203,681...122,208,952
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DIABLO |
diablo IAP-binding mitochondrial protein |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 64 ClinVar Annotator: match by term: DIABLO-related condition |
OMIM ClinVar |
PMID:21722859 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr12:122,207,662...122,227,456
Ensembl chr12:122,207,668...122,226,062
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LOC130009040 |
ATAC-STARR-seq lymphoblastoid active region 7211 |
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IAGP |
ClinVar Annotator: match by term: DIABLO-related condition |
ClinVar |
PMID:24033266 PMID:28492532 |
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NCBI chr12:122,225,829...122,226,068
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CCNF |
cyclin F |
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IAGP |
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 chr16:2,429,447...2,458,854
Ensembl chr16:2,429,394...2,458,854
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TBC1D24 |
TBC1 domain family member 24 |
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IAGP |
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 chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671
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CD164 |
CD164 molecule |
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IAGP |
ClinVar Annotator: match by term: CD164-related condition ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 66 |
OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:26197441 PMID:28492532 |
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NCBI chr 6:109,366,514...109,382,467
Ensembl chr 6:109,366,514...109,382,467
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OSBPL2 |
oxysterol binding protein like 2 |
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ISS |
OMIM:616340 |
MouseDO |
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NCBI chr20:62,228,243...62,236,301
Ensembl chr20:62,231,922...62,296,213
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OSBPL2 |
oxysterol binding protein like 2 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 67 | ClinVar Annotator: match by term: OSBPL2-related condition |
OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:25759012 PMID:26467025 PMID:28492532 |
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NCBI chr20:62,238,521...62,296,183
Ensembl chr20:62,231,922...62,296,213
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HOMER2 |
homer scaffold protein 2 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 68 ClinVar Annotator: match by term: HOMER2-related condition 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 PMID:30311386 More...
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NCBI chr15:82,834,661...82,986,157
Ensembl chr15:82,836,946...82,986,153
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KITLG |
KIT ligand |
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IAGP |
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 chr12:88,492,793...88,580,471
Ensembl chr12:88,492,793...88,580,851
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LMX1A |
LIM homeobox transcription factor 1 alpha |
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IAGP EXP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 7 ClinVar Annotator: match by term: LMX1A-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25741868 PMID:28492532 PMID:29754270 PMID:30311386 PMID:32840933 PMID:35711095 PMID:36140227 More...
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NCBI chr 1:165,201,867...165,356,715
Ensembl chr 1:165,201,867...165,356,715
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LMX1A-AS2 |
LMX1A antisense RNA 2 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 7 ClinVar Annotator: match by term: LMX1A-related condition |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29754270 |
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NCBI chr 1:165,204,047...165,212,923
Ensembl chr 1:165,210,627...165,213,090
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MCM2 |
minichromosome maintenance complex component 2 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 70 ClinVar Annotator: match by term: Deafness, autosomal dominant 70 | ClinVar Annotator: match by term: MCM2-related condition |
ClinVar OMIM |
PMID:25741868 PMID:26196677 PMID:26467025 PMID:28492532 PMID:29706348 |
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NCBI chr 3:127,598,411...127,622,436
Ensembl chr 3:127,598,223...127,622,436
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DMXL2 |
Dmx like 2 |
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IAGP |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 71 | 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 chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833
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EHMT2-AS1 |
EHMT2 and SLC44A4 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: SLC44A4-related condition |
ClinVar |
PMID:28492532 |
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NCBI chr 6:31,877,808...31,884,204
Ensembl chr 6:31,877,808...31,884,204 Ensembl chr 6:31,877,808...31,884,204
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SLC44A4 |
solute carrier family 44 member 4 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 72 ClinVar Annotator: match by term: SLC44A4-related condition |
ClinVar OMIM |
PMID:25741868 PMID:28013291 PMID:28492532 |
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NCBI chr 6:31,863,192...31,878,997
Ensembl chr 6:31,863,192...31,879,046
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PTPRQ |
protein tyrosine phosphatase receptor type Q |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 73 ClinVar Annotator: match by term: Deafness, autosomal dominant 73 | ClinVar Annotator: match by term: PTPRQ-related condition |
ClinVar OMIM |
PMID:25741868 PMID:26467025 PMID:29309402 PMID:30311386 PMID:31655630 |
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NCBI chr12:80,444,235...80,680,273
Ensembl chr12:80,402,178...80,680,273
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PDE1C |
phosphodiesterase 1C |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 74 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 74 | ClinVar Annotator: match by term: Deafness, autosomal dominant 74 ClinVar Annotator: match by term: Deafness, autosomal dominant 74 | ClinVar Annotator: match by term: PDE1C-related condition |
ClinVar OMIM |
PMID:25741868 PMID:28492532 PMID:29860631 |
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NCBI chr 7:31,616,777...32,428,224
Ensembl chr 7:31,751,179...32,428,131
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TRRAP |
transformation/transcription domain associated protein |
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IAGP |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 75 | ClinVar Annotator: match by term: Deafness, autosomal dominant 75 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31231791 |
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NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831
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PLS1 |
plastin 1 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 76 ClinVar Annotator: match by term: Deafness, autosomal dominant 76 | ClinVar Annotator: match by term: PLS1-related condition |
ClinVar OMIM |
PMID:25124451 PMID:25741868 PMID:28492532 PMID:30872814 PMID:31397523 PMID:31432506 PMID:36537221 More...
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NCBI chr 3:142,596,393...142,713,664
Ensembl chr 3:142,596,393...142,713,664
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ABCC1 |
ATP binding cassette subfamily C member 1 (ABCC1 blood group) |
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IAGP |
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 chr16:15,949,143...16,143,053
Ensembl chr16:15,949,138...16,143,257
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G |
LOC129994526 |
ATAC-STARR-seq lymphoblastoid silent region 16295 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 78 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:128,083,430...128,084,259
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SLC12A2 |
solute carrier family 12 member 2 |
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IAGP |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 78 ClinVar Annotator: match by term: Deafness, autosomal dominant 78 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30311386 PMID:30740830 PMID:32294086 PMID:32658972 PMID:32754646 PMID:34226616 More...
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NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677
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SCD5 |
stearoyl-CoA desaturase 5 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 79 |
OMIM ClinVar |
PMID:31972369 |
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NCBI chr 4:82,629,539...82,798,796
Ensembl chr 4:82,629,539...82,798,796
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GREB1L |
GREB1 like retinoic acid receptor coactivator |
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IAGP |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 80 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 80 | ClinVar Annotator: match by term: Deafness, autosomal dominant 80 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29100090 PMID:29955957 PMID:30311386 PMID:32378186 PMID:32585897 More...
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NCBI chr18:21,242,232...21,526,112
Ensembl chr18:21,242,232...21,526,112
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GREB1L-AS1 |
GREB1L antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 80 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 80 |
ClinVar |
PMID:25741868 PMID:29100090 PMID:29955957 PMID:30311386 PMID:32378186 PMID:32585897 More...
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NCBI chr18:21,380,044...21,451,047
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MYO7A |
myosin VIIA |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 80 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
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ELMOD3 |
ELMO domain containing 3 |
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IAGP |
ClinVar Annotator: match by term: ELMOD3-related condition 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 chr 2:85,354,769...85,391,748
Ensembl chr 2:85,354,394...85,391,752
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ATP2B2 |
ATPase plasma membrane Ca2+ transporting 2 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 82 ClinVar Annotator: match by term: ATP2B2-related Progressive hearing impairment |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30535804 |
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NCBI chr 3:10,324,023...10,708,007
Ensembl chr 3:10,324,023...10,708,007
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MAP1B |
microtubule associated protein 1B |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 83 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:33268592 |
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NCBI chr 5:72,107,475...72,209,565
Ensembl chr 5:72,107,234...72,209,565
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ATP11A |
ATPase phospholipid transporting 11A |
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IAGP |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 84 |
ClinVar OMIM |
PMID:25741868 PMID:30311386 PMID:35278131 |
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NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168
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LOC130010167 |
ATAC-STARR-seq lymphoblastoid silent region 5534 |
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IAGP |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 84 |
ClinVar |
PMID:35278131 |
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NCBI chr13:112,689,641...112,690,570
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USP48 |
ubiquitin specific peptidase 48 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 85 |
OMIM ClinVar |
PMID:25741868 PMID:34059922 |
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NCBI chr 1:21,678,298...21,783,149
Ensembl chr 1:21,678,298...21,783,606
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THOC1 |
THO complex subunit 1 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 86 |
ClinVar OMIM |
PMID:25741868 PMID:32776944 |
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NCBI chr18:214,520...268,047
Ensembl chr18:214,520...268,050
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PI4KB |
phosphatidylinositol 4-kinase beta |
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IAGP |
ClinVar Annotator: match by term: PI4KB-related condition ClinVar Annotator: match by term: Deafness, autosomal dominant 87 |
OMIM ClinVar |
PMID:33358777 |
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NCBI chr 1:151,291,797...151,327,715
Ensembl chr 1:151,291,797...151,327,715
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G |
EPHA10 |
EPH receptor A10 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 88 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr 1:37,713,880...37,765,120
Ensembl chr 1:37,713,880...37,765,133
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ATOH1 |
atonal bHLH transcription factor 1 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 89 ClinVar Annotator: match by term: ATOH1-related condition |
ClinVar OMIM |
PMID:25741868 PMID:28492532 PMID:33111345 |
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NCBI chr 4:93,828,753...93,830,964
Ensembl chr 4:93,828,753...93,830,964
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AL049830.3 |
novel transcript, antisense to COCH |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 9 ClinVar Annotator: match by term: COCH-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 9 |
ClinVar |
PMID:8817345 PMID:9806553 PMID:9931344 PMID:10400989 PMID:11332404 PMID:12928864 PMID:14512963 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:29449721 PMID:30311386 PMID:35901072 More...
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NCBI chr14:30,876,179...30,889,808
Ensembl chr14:30,876,179...30,889,808
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COCH |
cochlin |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Deafness, autosomal dominant 9 ClinVar Annotator: match by term: COCH-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 9 OMIM:601369 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM |
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:29449721 PMID:30311386 PMID:32562050 PMID:35901072 More...
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NCBI chr14:30,874,559...30,895,615
Ensembl chr14:30,874,514...30,895,065
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MYO3A |
myosin IIIA |
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IAGP |
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 chr10:25,934,229...26,212,532
Ensembl chr10:25,934,229...26,212,532
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CDK13 |
cyclin dependent kinase 13 |
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IAGP |
ClinVar Annotator: match by term: Wolfram-like disorder |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33879837 |
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NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580
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G |
WFS1 |
wolframin ER transmembrane glycoprotein |
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IAGP EXP |
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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3126496 PMID:3478949 PMID:9536098 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 PMID:11161832 PMID:11244483 PMID:11295831 PMID:11317350 PMID:11709537 PMID:11709538 PMID:11811080 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12707373 PMID:12754709 PMID:12913071 PMID:12955714 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:15912360 PMID:16151413 PMID:16648378 PMID:16806192 PMID:17492394 PMID:17568405 PMID:17576681 PMID:17603484 PMID:18040659 PMID:18060660 PMID:18414213 PMID:18544103 PMID:18688868 PMID:18806274 PMID:19042979 PMID:19292454 PMID:19344068 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:22226368 PMID:22238590 PMID:22781099 PMID:23373429 PMID:23429432 PMID:23596069 PMID:23981289 PMID:24033266 PMID:24875298 PMID:24890733 PMID:24909696 PMID:25048417 PMID:25133958 PMID:25173644 PMID:25211237 PMID:25262649 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:27045389 PMID:27068579 PMID:27167055 PMID:27217304 PMID:27395765 PMID:27468121 PMID:27617222 PMID:27810688 PMID:27911912 PMID:27959697 PMID:28432734 PMID:28468959 PMID:28492532 PMID:28559085 PMID:28802351 PMID:28974383 PMID:29207974 PMID:29529044 PMID:29563951 PMID:29632382 PMID:30014265 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30476936 PMID:30577886 PMID:30773290 PMID:30872718 PMID:30957632 PMID:31264968 PMID:31266054 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:32938580 PMID:33046911 PMID:33098801 PMID:33763535 PMID:33841295 PMID:33879153 PMID:33980734 PMID:34258273 PMID:34356170 PMID:34404380 PMID:34416374 PMID:34426522 PMID:34440452 PMID:34445196 PMID:34556497 PMID:34573359 PMID:34746052 PMID:34758253 PMID:34789499 PMID:34837038 PMID:34997062 PMID:35018440 PMID:35206658 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 PMID:37719678 PMID:38400873 More...
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NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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G |
ADGRV1 |
adhesion G protein-coupled receptor V1 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28951997 PMID:30303587 |
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NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437
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G |
ANAPC15 |
anaphase promoting complex subunit 15 |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:25741868 |
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NCBI chr11:72,106,372...72,112,780
Ensembl chr11:72,106,378...72,112,780
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G |
ANKRD36 |
ankyrin repeat domain 36 |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
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NCBI chr 2:97,113,153...97,264,521
Ensembl chr 2:97,113,153...97,264,521
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G |
ATP6V1B1 |
ATPase H+ transporting V1 subunit B1 |
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ISS |
OMIM:607197 |
MouseDO |
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NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431
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G |
BSND |
barttin CLCNK type accessory subunit beta |
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IAGP |
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 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172
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G |
C10orf105 |
chromosome 10 open reading frame 105 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
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 chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824
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G |
CABP2 |
calcium binding protein 2 |
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IAGP |
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 chr11:67,518,912...67,523,446
Ensembl chr11:67,518,912...67,524,517
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G |
CDH23 |
cadherin related 23 |
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IAGP |
DNA:missense mutations:multiple ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar RGD |
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 PMID:17850630 More...
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RGD:8662281 |
NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
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G |
CEACAM16 |
CEA cell adhesion molecule 16, tectorial membrane component |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:30311386 |
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NCBI chr19:44,699,151...44,710,718
Ensembl chr19:44,699,151...44,710,718
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G |
CEACAM16-AS1 |
CEACAM16, CEACAM19 and PVR antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:30311386 |
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NCBI chr19:44,699,038...44,725,184
Ensembl chr19:44,608,568...44,725,315
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G |
CIB2 |
calcium and integrin binding family member 2 |
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IAGP |
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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NCBI chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535
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G |
CLCC1 |
chloride channel CLIC like 1 |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
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NCBI chr 1:108,929,505...108,963,484
Ensembl chr 1:108,881,885...108,963,527
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G |
CLCNKA |
chloride voltage-gated channel Ka |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:30303587 |
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NCBI chr 1:16,022,036...16,034,050
Ensembl chr 1:16,018,875...16,034,050
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G |
CLDN14 |
claudin 14 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:11163249 PMID:15880785 PMID:22246673 PMID:25741868 PMID:30303587 PMID:30311386 More...
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NCBI chr21:36,460,621...36,576,569
Ensembl chr21:36,460,621...36,576,569
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G |
CLDN14-AS1 |
CLDN14 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:11163249 PMID:15880785 PMID:22246673 PMID:25741868 PMID:30303587 PMID:30311386 More...
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NCBI chr21:36,430,325...36,498,526
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G |
CLIC5 |
chloride intracellular channel 5 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
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NCBI chr 6:45,880,827...46,129,819
Ensembl chr 6:45,880,827...46,080,348
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G |
DYSF |
dysferlin |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB |
ClinVar |
PMID:28492532 |
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NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763
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G |
EDNRB |
endothelin receptor type B |
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IAGP |
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 chr13:77,895,487...77,975,527
Ensembl chr13:77,895,481...77,975,529
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G |
EDNRB-AS1 |
EDNRB antisense RNA 1 |
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IAGP |
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 chr13:77,818,937...77,908,442
Ensembl chr13:77,779,723...77,908,445
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G |
EPS8 |
EGFR pathway substrate 8, signaling adaptor |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:25741868 PMID:30303587 |
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NCBI chr12:15,620,134...15,789,388
Ensembl chr12:15,620,134...15,882,329
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G |
ESPN |
espin |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
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NCBI chr 1:6,424,776...6,461,370
Ensembl chr 1:6,424,776...6,461,367
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G |
ESRRB |
estrogen related receptor beta |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:23967202 PMID:24033266 PMID:30303587 PMID:33524517 |
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NCBI chr14:76,310,777...76,501,837
Ensembl chr14:76,310,712...76,501,837
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G |
GIPC3 |
GIPC PDZ domain containing family member 3 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
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NCBI chr19:3,585,478...3,593,541
Ensembl chr19:3,585,478...3,593,541
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G |
GJB2 |
gap junction protein beta 2 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
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:28900455 PMID:29062245 PMID:29086887 PMID:29362677 PMID:29501291 PMID:29542069 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:34599368 PMID:35016843 PMID:35396755 PMID:36190904 PMID:36474027 PMID:37239361 PMID:38730444 PMID:38831582 More...
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NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
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G |
GJB3 |
gap junction protein beta 3 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:10587579 |
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NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369
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G |
GOSR2 |
golgi SNAP receptor complex member 2 |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:35802133 PMID:37074134 |
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NCBI chr17:46,923,160...46,975,890
Ensembl chr17:46,923,075...46,975,524
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G |
GPR156 |
G protein-coupled receptor 156 |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:37814107 |
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NCBI chr 3:120,165,478...120,285,222
Ensembl chr 3:120,164,645...120,285,222
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G |
GPSM2 |
G protein signaling modulator 2 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:20602914 PMID:22578326 PMID:25741868 PMID:30303587 PMID:32747562 |
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NCBI chr 1:108,876,985...108,934,545
Ensembl chr 1:108,875,350...108,934,545
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G |
GRXCR1 |
glutaredoxin and cysteine rich domain containing 1 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:20137778 PMID:24033266 PMID:28492532 PMID:30303587 |
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NCBI chr 4:42,892,713...43,030,658
Ensembl chr 4:42,892,713...43,030,658
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G |
GRXCR2 |
glutaredoxin and cysteine rich domain containing 2 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
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NCBI chr 5:145,857,670...145,931,673
Ensembl chr 5:145,858,521...145,937,126
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G |
ILDR1 |
immunoglobulin like domain containing receptor 1 |
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IAGP |
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 chr 3:121,987,323...122,061,655
Ensembl chr 3:121,987,323...122,022,247
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G |
KARS1 |
lysyl-tRNA synthetase 1 |
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IAGP |
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 chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643
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G |
KCNJ10 |
potassium inwardly rectifying channel subfamily J member 10 |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:25741868 PMID:26467025 PMID:27171548 PMID:28492532 |
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NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483
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G |
LHFPL5 |
LHFPL tetraspan subfamily member 5 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:16459341 PMID:25741868 PMID:30177809 PMID:30298622 PMID:30303587 PMID:30311386 More...
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NCBI chr 6:35,805,352...35,824,070
Ensembl chr 6:35,797,206...35,845,397
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G |
LOC105371566 |
uncharacterized LOC105371566 |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
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NCBI chr17:18,107,691...18,117,561
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G |
LOC106501712 |
CLCNKA recombination region |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:30303587 |
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NCBI chr 1:16,023,929...16,036,205
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G |
LOC111982869 |
Sharpr-MPRA regulatory region 2121 |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:19888295 PMID:21917145 PMID:24006325 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 More...
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NCBI chr10:71,805,832...71,806,126
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G |
LOC123956210 |
Sharpr-MPRA regulatory region 3291 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:16283880 PMID:17125574 PMID:20301640 PMID:23638949 PMID:24224479 PMID:24599119 PMID:25394566 PMID:25741868 PMID:26252218 PMID:26445815 PMID:28492532 PMID:30303587 More...
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NCBI chr 7:107,709,864...107,710,158
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G |
LOC126861365 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:121000154-121001353 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
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NCBI chr11:121,129,445...121,130,644
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G |
LOC127814297 |
RBM27-POU4F3 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
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NCBI chr 5:146,203,605...146,341,728
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G |
LOC129996737 |
ATAC-STARR-seq lymphoblastoid silent region 17342 |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
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NCBI chr 6:75,749,046...75,749,215
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G |
LOXHD1 |
lipoxygenase homology PLAT domains 1 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
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 chr18:46,476,961...46,657,220
Ensembl chr18:46,476,972...46,657,220
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G |
LRRC37A2 |
leucine rich repeat containing 37 member A2 |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:35802133 PMID:37074134 |
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NCBI chr17:46,372,792...47,049,128
Ensembl chr17:46,511,508...46,556,910
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G |
LRRC51 |
leucine rich repeat containing 51 |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
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NCBI chr11:72,080,850...72,096,895
Ensembl chr11:72,080,337...72,096,895
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G |
LRTOMT |
leucine rich transmembrane and O-methyltransferase domain containing |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr11:72,080,850...72,110,782
Ensembl chr11:72,080,331...72,110,782
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G |
MARVELD2 |
MARVEL domain containing 2 |
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IAGP |
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 5:69,415,116...69,444,330
Ensembl chr 5:69,415,065...69,444,330
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G |
MPZL2 |
myelin protein zero like 2 |
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IAGP |
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 chr11:118,253,416...118,264,297
Ensembl chr11:118,253,416...118,264,536
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G |
MSRB3 |
methionine sulfoxide reductase B3 |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:19650862 PMID:21185009 PMID:25741868 PMID:30303587 |
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NCBI chr12:65,278,683...65,466,907
Ensembl chr12:65,278,643...65,491,430
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G |
MYH9 |
myosin heavy chain 9 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
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NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010
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G |
MYO15A |
myosin XVA |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness 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 chr17:18,108,756...18,179,800
Ensembl chr17:18,108,756...18,179,802
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G |
MYO3A |
myosin IIIA |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:25741868 |
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NCBI chr10:25,934,229...26,212,532
Ensembl chr10:25,934,229...26,212,532
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G |
MYO6 |
myosin VI |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:75,749,239...75,919,537
Ensembl chr 6:75,749,201...75,919,537
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G |
MYO7A |
myosin VIIA |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive 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 chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
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G |
OTOA |
otoancorin |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:23173898 PMID:24033266 PMID:28492532 PMID:30303587 |
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NCBI chr16:21,663,968...21,760,729
Ensembl chr16:21,663,968...21,761,935
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G |
OTOF |
otoferlin |
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ISO IAGP |
DNA:missense mutation:cds:p.I318N (mouse) ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar RGD |
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 PMID:17967520 More...
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RGD:9479154 |
NCBI chr 2:26,457,203...26,558,756
Ensembl chr 2:26,457,203...26,558,756
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G |
OTOG |
otogelin |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:30303587 PMID:30311386 |
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NCBI chr11:17,547,259...17,646,044
Ensembl chr11:17,547,259...17,647,150
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G |
OTOGL |
otogelin like |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
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NCBI chr12:80,099,537...80,380,880
Ensembl chr12:80,099,537...80,380,880
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G |
PCDH15 |
protocadherin related 15 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30303587 |
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NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942
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G |
PDZD7 |
PDZ domain containing 7 |
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IAGP |
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 chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295
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G |
PJVK |
pejvakin |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness 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 chr 2:178,451,378...178,462,102
Ensembl chr 2:178,451,346...178,462,102
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G |
POU4F3 |
POU class 4 homeobox 3 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
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NCBI chr 5:146,338,839...146,341,728
Ensembl chr 5:146,338,839...146,341,728
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G |
PRKRA |
protein activator of interferon induced protein kinase EIF2AK2 |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512
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G |
PSAP |
prosaposin |
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IAGP |
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 chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251
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G |
PTPRQ |
protein tyrosine phosphatase receptor type Q |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:30303587 PMID:30311386 |
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NCBI chr12:80,444,235...80,680,273
Ensembl chr12:80,402,178...80,680,273
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G |
RDX |
radixin |
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IAGP |
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 chr11:110,174,922...110,296,614
Ensembl chr11:109,864,295...110,296,712
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G |
SLC26A4 |
solute carrier family 26 member 4 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness 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 chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809
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G |
SLC26A4-AS1 |
SLC26A4 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
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NCBI chr 7:107,656,516...107,661,798
Ensembl chr 7:107,650,260...107,662,204
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G |
SLC26A5 |
solute carrier family 26 member 5 |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
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NCBI chr 7:103,352,730...103,446,207
Ensembl chr 7:103,352,730...103,446,207
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G |
TBCEL-TECTA |
TBCEL-TECTA readthrough |
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IAGP |
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 chr11:121,024,102...121,191,490
Ensembl chr11:121,024,125...121,113,108
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G |
TECTA |
tectorin alpha |
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IAGP |
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 chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490
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G |
TMC1 |
transmembrane channel like 1 |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar Annotator: match by term: Deafness, autosomal recessive 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 9:72,521,608...72,838,297
Ensembl chr 9:72,521,608...72,838,297
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G |
TMIE |
transmembrane inner ear |
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IAGP |
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 chr 3:46,693,778...46,710,886
Ensembl chr 3:46,694,528...46,710,886
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G |
TMPRSS3 |
transmembrane serine protease 3 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness 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 chr21:42,371,890...42,396,052
Ensembl chr21:42,371,887...42,396,091
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G |
TOGARAM2 |
TOG array regulator of axonemal microtubules 2 |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:20642360 PMID:38374469 |
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NCBI chr 2:28,956,518...29,052,230
Ensembl chr 2:28,956,611...29,052,230
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G |
TOMT |
transmembrane O-methyltransferase |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
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NCBI chr11:72,105,924...72,109,596
Ensembl chr11:72,105,924...72,109,596
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G |
TPRN |
taperin |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:20170899 PMID:30303587 |
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NCBI chr 9:137,191,619...137,200,741
Ensembl chr 9:137,191,617...137,204,193
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G |
TRIOBP |
TRIO and F-actin binding protein |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:16385457 PMID:16385458 PMID:20510926 PMID:28492532 PMID:30303587 PMID:30311386 More...
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NCBI chr22:37,697,048...37,776,556
Ensembl chr22:37,697,048...37,776,556
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G |
USH1C |
USH1 protein network component harmonin |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
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 chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416
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G |
USH1G |
USH1 protein network component sans |
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IAGP |
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 chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256
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G |
USH2A |
usherin |
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IAGP |
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 chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
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G |
USH2A-AS1 |
USH2A antisense RNA 1 |
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IAGP |
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 chr 1:216,193,722...216,238,035
Ensembl chr 1:216,194,051...216,238,122
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G |
WHRN |
whirlin |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:30303587 |
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NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,078...114,505,473
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G |
PPIP5K2 |
diphosphoinositol pentakisphosphate kinase 2 |
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IAGP |
ClinVar Annotator: match by term: PPIP5K2-related condition ClinVar Annotator: match by term: Deafness, autosomal recessive 100 |
OMIM ClinVar |
PMID:15538632 PMID:25741868 PMID:29590114 |
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NCBI chr 5:103,120,301...103,212,799
Ensembl chr 5:103,120,149...103,212,799
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G |
GRXCR2 |
glutaredoxin and cysteine rich domain containing 2 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive 101 ClinVar Annotator: match by term: Deafness, autosomal recessive 101 | ClinVar Annotator: match by term: GRXCR2-related condition |
ClinVar OMIM |
PMID:24619944 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 |
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NCBI chr 5:145,857,670...145,931,673
Ensembl chr 5:145,858,521...145,937,126
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G |
EPS8 |
EGFR pathway substrate 8, signaling adaptor |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive 102 ClinVar Annotator: match by term: Deafness, autosomal recessive 102 | ClinVar Annotator: match by term: EPS8-related condition |
ClinVar OMIM |
PMID:24033266 PMID:24741995 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30303587 PMID:30311386 More...
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NCBI chr12:15,620,134...15,789,388
Ensembl chr12:15,620,134...15,882,329
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G |
CLIC5 |
chloride intracellular channel 5 |
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IAGP |
ClinVar Annotator: match by term: Deafness, autosomal recessive 103 ClinVar Annotator: match by term: CLIC5-related condition ClinVar Annotator: match by term: CLIC5-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 103 |
ClinVar OMIM |
PMID:24033266 PMID:24781754 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 More...
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