|
G |
ACTB |
actin beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16685646 |
|
NCBI chr 3:4,084,275...4,090,383
Ensembl chr 3:4,082,216...4,090,356
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|
G |
ADPRS |
ADP-ribosylserine hydrolase |
|
ISO |
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment |
ClinVar |
|
|
NCBI chr 6:92,238,467...92,244,515
Ensembl chr 6:92,237,980...92,244,514
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|
G |
AFG3L2 |
AFG3 like matrix AAA peptidase subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:32219868 |
|
NCBI chr 6:97,200,890...97,234,577
Ensembl chr 6:97,200,922...97,235,366
|
|
G |
AIFM1 |
apoptosis inducing factor mitochondria associated 1 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25590979 PMID:25741868 PMID:28492532 PMID:28967629 PMID:31523922 |
|
NCBI chr X:106,676,596...106,708,290
Ensembl chr X:106,670,520...106,708,317
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|
G |
APOE |
apolipoprotein E |
susceptibility |
ISO |
DNA:polymorphism:exon: |
RGD |
PMID:17454231 |
RGD:7771593 |
NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
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|
G |
ATF6 |
activating transcription factor 6 |
|
ISO |
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment |
ClinVar |
PMID:25741868 PMID:26029869 PMID:28028229 PMID:28492532 |
|
NCBI chr 4:88,591,279...88,806,156
Ensembl chr 4:88,591,288...88,805,304
|
|
G |
ATP1A1 |
ATPase Na+/K+ transporting subunit alpha 1 |
|
ISO |
protein:decreased expression:cochlea: |
RGD |
PMID:23827367 |
RGD:7349365 |
NCBI chr 4:104,353,506...104,384,321
Ensembl chr 4:104,353,506...104,384,680
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|
G |
ATP1B1 |
ATPase Na+/K+ transporting subunit beta 1 |
|
ISO |
protein:decreased expression:cochlea: |
RGD |
PMID:23827367 |
RGD:7349365 |
NCBI chr 4:81,912,543...81,937,015
Ensembl chr 4:81,911,561...81,991,840
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|
G |
BCAP31 |
B cell receptor associated protein 31 |
|
ISO |
DNA:mutation, deletion:exon:p.Q33X (human) |
RGD |
PMID:24011989 |
RGD:7483567 |
NCBI chr X:124,456,999...124,484,923
Ensembl chr X:124,457,001...124,484,743
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|
G |
BDNF |
brain derived neurotrophic factor |
|
ISO |
mRNA,protein:increased expression:inferior colliculus: |
RGD |
PMID:20598895 |
RGD:8655560 |
NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765
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|
G |
BRF1 |
BRF1 RNA polymerase III transcription initiation factor subunit |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
|
|
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G |
BSND |
barttin CLCNK type accessory subunit beta |
|
ISO |
Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon |
RGD |
PMID:11687798 |
RGD:1600603 |
NCBI chr 6:157,424,389...157,432,571
Ensembl chr 6:157,425,878...157,432,580
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|
G |
CARMIL1 |
capping protein regulator and myosin 1 linker 1 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:20,036,430...20,353,431
Ensembl chr 7:20,036,944...20,353,420
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|
G |
CAT |
catalase |
|
ISO |
|
RGD |
PMID:15109710 |
RGD:8547516 |
NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
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|
G |
CDC14A |
cell division cycle 14A |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:117,635,849...117,804,568
Ensembl chr 4:117,635,861...117,805,254
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|
G |
CDH23 |
cadherin related 23 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:22899989 PMID:25741868 PMID:25963016 PMID:28492532 PMID:30303587 |
|
NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834
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|
G |
CEP78 |
centrosomal protein 78 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 |
|
NCBI chr 1:231,081,157...231,113,065
Ensembl chr 1:231,081,196...231,115,940
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|
G |
CLCN3 |
chloride voltage-gated channel 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive sensorineural hearing impairment |
ClinVar |
PMID:27876815 |
|
NCBI chr14:20,037,628...20,127,160
Ensembl chr14:20,026,685...20,127,155
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G |
CLCNK |
chloride voltage-gated channel K |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:75,178,914...75,192,670
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G |
CLDN14 |
claudin 14 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
|
NCBI chr13:200,121,796...200,201,712
Ensembl chr13:200,128,477...200,145,525
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G |
COCH |
cochlin |
|
ISO |
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment |
ClinVar |
PMID:16261627 PMID:19461658 PMID:25780252 PMID:28492532 PMID:30311386 PMID:34652575 More...
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|
NCBI chr 7:68,580,124...68,595,142
Ensembl chr 7:68,576,153...68,594,077
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G |
COL11A1 |
collagen type XI alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:115,638,381...115,841,679
Ensembl chr 4:115,634,172...115,840,708
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|
G |
COL11A2 |
collagen type XI alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,491...25,234,888
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|
G |
COL2A1 |
collagen type II alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16189708 |
|
NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,137...78,380,718
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|
G |
COL9A1 |
collagen type IX alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:50,403,355...50,498,356
Ensembl chr 1:50,403,361...50,498,332
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|
G |
COL9A3 |
collagen type IX alpha 3 chain |
|
ISO |
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr17:62,074,108...62,094,228
Ensembl chr17:62,074,855...62,093,703
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G |
COX18 |
cytochrome c oxidase assembly factor COX18 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:69,274,420...69,354,969
Ensembl chr 8:69,341,198...69,354,894
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|
G |
DBH |
dopamine beta-hydroxylase |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:273,204,407...273,225,562
Ensembl chr 1:273,204,175...273,225,552
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G |
DIAPH1 |
diaphanous related formin 1 |
susceptibility |
ISO |
autosomal dominant nonsyndromic sensorineural deafness 1, OMIM:124900;DNA:splice-site mutation |
RGD |
PMID:9360932 |
RGD:1601058 |
NCBI chr 2:143,158,691...143,271,110
Ensembl chr 2:143,158,585...143,271,147
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G |
DPT |
dermatopontin |
|
ISO |
ClinVar Annotator: match by term: Progressive sensorineural hearing impairment |
ClinVar |
PMID:27876815 |
|
NCBI chr 4:82,287,657...82,319,380
Ensembl chr 4:82,287,730...82,319,366
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G |
EDN3 |
endothelin 3 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
|
NCBI chr17:59,418,667...59,448,382
Ensembl chr17:59,425,495...59,448,362
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G |
EDNRB |
endothelin receptor type B |
|
ISO |
DNA:mutation:cds: |
RGD |
PMID:21915282 |
RGD:6480217 |
NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884
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G |
ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
|
ISO |
|
RGD |
PMID:25762674 |
RGD:11567237 |
NCBI chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898
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G |
ERCC8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
|
ISO |
associated with Cockayne Syndrome |
RGD |
PMID:25762674 |
RGD:11567237 |
NCBI chr16:39,704,602...39,770,330
Ensembl chr16:39,701,702...39,770,315
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G |
ESPN |
espin |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:67,284,106...67,316,577
Ensembl chr 6:67,284,079...67,316,591
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G |
EYA4 |
EYA transcriptional coactivator and phosphatase 4 |
|
ISO |
DNA:deletion:introns, exon (human) |
RGD |
PMID:15735644 |
RGD:1598455 |
NCBI chr 1:30,260,784...30,575,593
Ensembl chr 1:30,261,917...30,533,604
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|
G |
F2 |
coagulation factor II, thrombin |
no_association |
ISO |
DNA:transition: :20210G>A (human) DNA:transition: :20210G>A(human) associated with Stroke |
RGD |
PMID:16572609 PMID:17334320 PMID:18636032 |
RGD:7387240 RGD:7387261 RGD:7387268 |
NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
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|
G |
F5 |
coagulation factor V |
no_association |
ISO |
DNA:mutation DNA:SNP: :1691G>A (human) |
RGD |
PMID:16015153 PMID:16572609 |
RGD:7387240 RGD:7387260 |
NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,274...81,485,066
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G |
FADD |
Fas associated via death domain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17656375 |
|
NCBI chr 2:3,191,718...3,194,820
Ensembl chr 2:3,185,675...3,194,818
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G |
FGF3 |
fibroblast growth factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17656375 |
|
NCBI chr 2:3,489,208...3,496,532
Ensembl chr 2:3,489,009...3,497,533
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G |
FGFR2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment |
ClinVar |
PMID:19461658 PMID:30311386 PMID:34652575 |
|
NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425
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G |
FOXP4 |
forkhead box P4 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 7:36,760,643...36,793,620
Ensembl chr 7:36,742,752...36,793,619
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|
G |
GABRA1 |
gamma-aminobutyric acid type A receptor subunit alpha1 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:28492532 |
|
NCBI chr16:61,656,583...61,723,428
Ensembl chr16:61,656,587...61,723,119
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|
G |
GABRR2 |
gamma-aminobutyric acid type A receptor subunit rho2 |
|
ISO |
ClinVar Annotator: match by term: Progressive sensorineural hearing impairment |
ClinVar |
PMID:27876815 |
|
NCBI chr 1:57,287,265...57,332,342
Ensembl chr 1:57,286,705...57,332,720
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G |
GAS2 |
growth arrest specific 2 |
|
ISO |
|
MouseDO |
|
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NCBI chr 2:36,712,758...36,885,436
Ensembl chr 2:36,711,612...36,885,620
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G |
GATA3 |
GATA binding protein 3 |
|
ISO |
HDR Syndrome/Barakat Syndrome, OMIM:146255 DNA:point_mutation, deletion, deletion:CDS:Arg277Ter, 49bpDELnt465-513, 12bpDELnt946-957 |
RGD |
PMID:10935639 |
RGD:1358706 |
NCBI chr10:63,367,684...63,397,977
Ensembl chr10:63,367,663...63,388,859
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G |
GCC2 |
GRIP and coiled-coil domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive sensorineural hearing impairment |
ClinVar |
PMID:27876815 |
|
NCBI chr 3:47,718,251...47,759,060
Ensembl chr 3:47,718,254...47,758,999
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G |
GGPS1 |
geranylgeranyl diphosphate synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 PMID:32403198 |
|
NCBI chr14:55,907,885...55,924,037
Ensembl chr14:55,908,674...55,923,988
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G |
GIPC3 |
GIPC PDZ domain containing family member 3 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss | ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:23510777 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32747562 PMID:32864763 More...
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NCBI chr 2:75,082,048...75,090,145
Ensembl chr 2:75,083,362...75,089,756
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|
G |
GJB2 |
gap junction protein beta 2 |
|
ISO |
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Progressive sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 PMID:9529365 PMID:9600457 PMID:9620796 PMID:9819448 PMID:10204859 PMID:10369869 PMID:10376574 PMID:10422812 PMID:10477435 PMID:10508996 PMID:10544226 PMID:10607953 PMID:10633133 PMID:10713883 PMID:10751669 PMID:10782932 PMID:10874298 PMID:10982180 PMID:10982182 PMID:11313751 PMID:11313763 PMID:11386851 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11551104 PMID:11556849 PMID:11668644 PMID:11807148 PMID:11912510 PMID:11918723 PMID:12072059 PMID:12081719 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12189493 PMID:12239718 PMID:12522556 PMID:12548749 PMID:12562518 PMID:12684873 PMID:12746422 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12865758 PMID:14070830 PMID:14643477 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14986832 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15359540 PMID:15365987 PMID:15617550 PMID:15633193 PMID:15656949 PMID:15666300 PMID:15757815 PMID:15769851 PMID:15954104 PMID:15967879 PMID:16088916 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16380907 PMID:16532460 PMID:16650073 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16868655 PMID:17330861 PMID:17426645 PMID:17428550 PMID:17553572 PMID:17660464 PMID:17666888 PMID:17671735 PMID:17993581 PMID:18294064 PMID:18414213 PMID:18472371 PMID:18776652 PMID:18804553 PMID:18843290 PMID:18925674 PMID:18941476 PMID:18985073 PMID:18987669 PMID:19043807 PMID:19101659 PMID:19125024 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19384972 PMID:19925344 PMID:19929408 PMID:20073550 PMID:20086291 PMID:20086306 PMID:20101161 PMID:20236118 PMID:20301449 PMID:20668687 PMID:20739944 PMID:20815033 PMID:21055240 PMID:21220926 PMID:21366436 PMID:21465647 PMID:21468573 PMID:21910243 PMID:22037723 PMID:22281373 PMID:22389666 PMID:22567152 PMID:22567369 PMID:22567861 PMID:22613756 PMID:22704424 PMID:22855627 PMID:22975760 PMID:22981120 PMID:22995991 PMID:23489192 PMID:23668481 PMID:23757202 PMID:23797420 PMID:23924173 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24158611 PMID:24158896 PMID:24346070 PMID:24737404 PMID:24774219 PMID:25262649 PMID:25266519 PMID:25388846 PMID:25575739 PMID:25741868 PMID:25999548 PMID:26059209 PMID:26096904 PMID:26178431 PMID:26188157 PMID:26445815 PMID:26467025 PMID:26553399 PMID:26749107 PMID:26778469 PMID:26969326 PMID:27141831 PMID:27153395 PMID:27884173 PMID:28428247 PMID:28492532 PMID:29362677 PMID:29501291 PMID:30086704 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30431684 PMID:30872814 PMID:31160754 PMID:32067424 PMID:33524517 PMID:34440441 PMID:35396755 PMID:36474027 More...
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NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
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G |
GJB3 |
gap junction protein beta 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant, with peripheral neuropathy |
ClinVar |
PMID:11309368 PMID:12165562 PMID:15276679 PMID:19050930 PMID:19197336 PMID:19755382 PMID:21204020 PMID:22681493 PMID:24913888 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29044474 PMID:35580552 More...
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NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,542
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G |
GJC3 |
gap junction protein gamma 3 |
|
ISO |
|
RGD |
PMID:16481432 |
RGD:1578421 |
NCBI chr 3:7,843,398...7,849,864
Ensembl chr 3:7,839,151...7,848,761
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G |
GPSM2 |
G protein signaling modulator 2 |
|
ISO |
DNA:nonsense mutation:cds:p.R127X(human) DNA:nonsense mutation:exon:c.1684C>T(p.Q562X(human) |
RGD |
PMID:20602914 PMID:21348867 |
RGD:11552574 RGD:11552577 |
NCBI chr 4:111,100,912...111,165,902
Ensembl chr 4:111,102,396...111,165,886
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G |
GRHL2 |
grainyhead like transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive sensorineural hearing impairment |
ClinVar |
PMID:27876815 |
|
NCBI chr 4:35,368,788...35,565,394
Ensembl chr 4:35,371,136...35,564,919
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G |
GSDME |
gasdermin E |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
|
NCBI chr18:47,524,637...47,583,748
Ensembl chr18:47,526,797...47,583,731
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G |
HARS2 |
histidyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31827252 |
|
NCBI chr 2:142,401,279...142,410,253
Ensembl chr 2:142,401,328...142,409,619
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G |
IFNG |
interferon gamma |
|
ISO |
associated with Hearing Loss, Sensorineural;protein:increased expression:serum: |
RGD |
PMID:15937357 PMID:19684145 |
RGD:7987908 RGD:8142347 |
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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G |
IL2 |
interleukin 2 |
|
ISO |
|
RGD |
PMID:9693304 |
RGD:8662926 |
NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
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G |
ILDR1 |
immunoglobulin like domain containing receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital sensorineural hearing impairment |
ClinVar |
PMID:21255762 PMID:25741868 PMID:28492532 |
|
NCBI chr13:138,530,905...138,575,483
Ensembl chr13:138,530,910...138,572,189
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G |
IRX5 |
iroquois homeobox 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22581230 |
|
NCBI chr 6:30,511,263...30,515,015
Ensembl chr 6:30,511,894...30,514,808
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G |
ITGA2 |
integrin subunit alpha 2 |
|
ISO |
DNA:snp:cds:c.807C>T (rs1126643) (human) |
RGD |
PMID:22948415 |
RGD:8686432 |
NCBI chr16:32,336,240...32,440,311
Ensembl chr16:32,336,292...32,437,103
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G |
KARS1 |
lysyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 PMID:28496994 PMID:30252186 PMID:30311386 PMID:30369941 PMID:31116475 PMID:33260297 PMID:34172899 More...
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NCBI chr 6:12,057,475...12,073,749
Ensembl chr 6:12,056,571...12,073,748
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G |
KCNJ10 |
potassium inwardly rectifying channel subfamily J member 10 |
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ISO |
protein:decreased expression:cochlea: |
RGD |
PMID:23827367 |
RGD:7349365 |
NCBI chr 4:90,421,956...90,457,406
Ensembl chr 4:90,422,025...90,457,406
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G |
KCNQ4 |
potassium voltage-gated channel subfamily Q member 4 |
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ISO |
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment |
ClinVar |
PMID:19461658 PMID:27081546 PMID:30311386 PMID:34652575 |
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NCBI chr 6:170,346,135...170,401,534
Ensembl chr 6:170,346,141...170,401,718
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G |
KL |
klotho |
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ISO |
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RGD |
PMID:21167925 |
RGD:10403058 |
NCBI chr11:9,427,236...9,479,251
Ensembl chr11:9,427,037...9,479,228
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G |
LARS1 |
leucyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:147,480,132...147,554,197
Ensembl chr 2:147,477,370...147,554,047
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G |
LMX1A |
LIM homeobox transcription factor 1 alpha |
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ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:29971487 |
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NCBI chr 4:85,403,287...85,570,738
Ensembl chr 4:85,406,223...85,571,443
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G |
LRP2 |
LDL receptor related protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17632512 |
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NCBI chr15:75,565,299...75,754,604
Ensembl chr15:75,565,303...75,716,694
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G |
MBL2 |
mannose binding lectin 2 |
susceptibility |
ISO |
DNA:SNP:cds: |
RGD |
PMID:23246423 |
RGD:8693695 |
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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G |
MITF |
melanocyte inducing transcription factor |
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ISO |
ClinVar Annotator: match by term: Congenital sensorineural hearing impairment |
ClinVar |
PMID:8659547 PMID:20127975 PMID:20478267 PMID:22320238 PMID:24194866 PMID:25741868 PMID:28492532 PMID:29407415 PMID:29531335 PMID:30394532 More...
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NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,093
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G |
MRPS7 |
mitochondrial ribosomal protein S7 |
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ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:6,052,109...6,055,669
Ensembl chr12:6,052,063...6,055,668
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G |
MT-CYB |
mitochondrially encoded cytochrome b |
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ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:28027978 |
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NCBI chr MT:15,342...16,481
Ensembl chr MT:15,342...16,481
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G |
MYH14 |
myosin heavy chain 14 |
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ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
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NCBI chr 6:55,097,851...55,200,754
Ensembl chr 6:55,113,521...55,200,750
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G |
MYH9 |
myosin heavy chain 9 |
disease_progression |
ISO |
associated with MYH9-Related Disorders;DNA:mutations:cds: |
RGD |
PMID:26226608 |
RGD:11533922 |
NCBI chr 5:11,365,603...11,456,475
Ensembl chr 5:11,360,660...11,456,472
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G |
MYO15A |
myosin XVA |
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ISO |
ClinVar Annotator: match by term: Congenital sensorineural hearing impairment |
ClinVar |
PMID:9536098 PMID:17546645 PMID:17576681 PMID:24033266 PMID:24875298 PMID:25741868 PMID:26969326 PMID:28492532 PMID:32860223 More...
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NCBI chr12:60,533,502...60,582,645
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G |
MYO1A |
myosin IA |
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ISO |
DFNA48, OMIM:607841 |
RGD |
PMID:12736868 |
RGD:1600218 |
NCBI chr 5:22,338,024...22,363,528
Ensembl chr 5:22,338,029...22,363,568
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G |
MYO1F |
myosin IF |
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ISO |
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment |
ClinVar |
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NCBI chr 2:70,753,143...70,792,938
Ensembl chr 2:70,753,138...70,792,936
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G |
MYO3A |
myosin IIIA |
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ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:12032315 PMID:23990876 PMID:25741868 PMID:28492532 PMID:32006683 PMID:32747562 More...
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NCBI chr10:49,392,119...49,623,575
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G |
MYO6 |
myosin VI |
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ISO |
DFNA22, OMIM:606346, DNA:point mutation:exon:C442Y |
RGD |
PMID:11468689 |
RGD:1600556 |
NCBI chr 1:89,992,860...90,137,767
Ensembl chr 1:89,992,866...90,137,734
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G |
MYO7A |
myosin VIIA |
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ISO |
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:16449806 PMID:19461658 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28802369 PMID:30311386 PMID:34652575 More...
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NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
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G |
NARS2 |
asparaginyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
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NCBI chr 9:12,869,347...13,010,897
Ensembl chr 9:12,867,686...13,010,887
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G |
NCOA3 |
nuclear receptor coactivator 3 |
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ISO |
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment |
ClinVar |
PMID:19461658 PMID:30311386 PMID:33326993 PMID:34652575 |
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NCBI chr17:49,528,275...49,660,471
Ensembl chr17:49,528,179...49,663,200
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G |
NEFL |
neurofilament light chain |
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ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:12477167 PMID:12566280 PMID:19158810 PMID:20301384 PMID:21840889 PMID:25448007 PMID:25552649 PMID:25741868 PMID:25741869 PMID:26645395 PMID:27206872 PMID:28492532 More...
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NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112
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G |
NGF |
nerve growth factor |
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ISO |
protein:decreased expression:serum: |
RGD |
PMID:14587217 |
RGD:8655553 |
NCBI chr 4:105,256,691...105,307,843
Ensembl chr 4:105,256,749...105,307,837
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G |
OTOF |
otoferlin |
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ISO |
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment |
ClinVar |
PMID:12525542 PMID:16199547 PMID:16371502 PMID:18381613 PMID:19250381 PMID:19461658 PMID:19636622 PMID:20146813 PMID:20301429 PMID:21117948 PMID:22575033 PMID:22906306 PMID:24001616 PMID:24033266 PMID:24053799 PMID:24746455 PMID:25741868 PMID:26188103 PMID:26445815 PMID:26467025 PMID:26818607 PMID:27082237 PMID:27729456 PMID:28492532 PMID:29196752 PMID:29484972 PMID:30311386 PMID:31095577 PMID:31581539 PMID:31589614 PMID:31827501 PMID:31980526 PMID:32747562 PMID:32906206 PMID:33256196 PMID:33724713 PMID:34424407 PMID:34536124 PMID:34599368 PMID:34652575 More...
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NCBI chr 3:112,478,188...112,581,105
Ensembl chr 3:112,478,027...112,581,104
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G |
P2RX2 |
purinergic receptor P2X 2 |
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ISO |
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment |
ClinVar |
PMID:19461658 PMID:28492532 PMID:30311386 PMID:34652575 |
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NCBI chr14:22,854,828...22,858,574
Ensembl chr14:22,854,828...22,858,386
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G |
PEX6 |
peroxisomal biogenesis factor 6 |
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ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:19877282 PMID:25079577 PMID:25741868 PMID:28492532 PMID:32399598 |
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NCBI chr 7:38,039,852...38,052,384
Ensembl chr 7:38,039,862...38,052,369
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G |
PHEX |
phosphate regulating endopeptidase X-linked |
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ISO |
DNA:mutations:cds: |
RGD |
PMID:15029877 |
RGD:11556244 |
NCBI chr X:18,199,396...18,420,985
Ensembl chr X:18,203,174...18,418,004
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G |
PHF7 |
PHD finger protein 7 |
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ISO |
ClinVar Annotator: match by term: Progressive sensorineural hearing impairment |
ClinVar |
PMID:27876815 |
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NCBI chr13:34,553,818...34,565,647
Ensembl chr13:34,553,816...34,565,646
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G |
PLS1 |
plastin 1 |
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ISO |
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment |
ClinVar |
PMID:31397523 |
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NCBI chr13:83,307,692...83,434,133
Ensembl chr13:83,308,007...83,434,128
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G |
PLSCR4 |
phospholipid scramblase 4 |
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ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
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NCBI chr13:86,542,279...86,573,665
Ensembl chr13:86,542,283...86,573,629
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G |
POU4F3 |
POU class 4 homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Congenital sensorineural hearing impairment |
ClinVar |
PMID:25741868 |
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NCBI chr 2:147,693,013...147,694,345
Ensembl chr 2:147,692,751...147,695,346
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G |
PRICKLE3 |
prickle planar cell polarity protein 3 |
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ISO |
ClinVar Annotator: match by term: Progressive sensorineural hearing impairment |
ClinVar |
PMID:27876815 |
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NCBI chr X:43,218,271...43,230,368
Ensembl chr X:43,218,277...43,230,367
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G |
PRKCB |
protein kinase C beta |
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ISO |
ClinVar Annotator: match by term: Progressive sensorineural hearing impairment |
ClinVar |
PMID:27329761 |
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NCBI chr 3:21,995,227...22,383,628
Ensembl chr 3:21,995,231...22,383,264
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G |
PTGDS |
prostaglandin D2 synthase |
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ISO |
protein:decreased expression:cochlea: |
RGD |
PMID:23827367 |
RGD:7349365 |
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G |
PTPRQ |
protein tyrosine phosphatase receptor type Q |
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ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
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NCBI chr 5:100,787,025...101,081,145
Ensembl chr 5:100,787,027...101,033,334
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G |
RAB33A |
RAB33A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25590979 PMID:25741868 PMID:28492532 PMID:28967629 PMID:31523922 |
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NCBI chr X:106,708,402...106,723,803
Ensembl chr X:106,712,398...106,723,404
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G |
RRM2B |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
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ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:8279480 PMID:25741868 PMID:28492532 PMID:32827185 |
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NCBI chr 4:34,823,869...34,859,777
Ensembl chr 4:34,823,758...34,859,778
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G |
SCP2 |
sterol carrier protein 2 |
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ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33713422 |
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NCBI chr 6:159,191,045...159,314,985
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G |
SEMA3D |
semaphorin 3D |
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ISO |
ClinVar Annotator: match by term: Progressive sensorineural hearing impairment |
ClinVar |
PMID:27876815 |
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NCBI chr 9:95,280,637...95,486,109
Ensembl chr 9:95,280,593...95,486,090
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G |
SLC12A2 |
solute carrier family 12 member 2 |
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ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 PMID:28492532 PMID:34374074 |
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NCBI chr 2:131,016,430...131,109,307
Ensembl chr 2:131,016,418...131,109,299
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G |
SLC25A4 |
solute carrier family 25 member 4 |
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ISO |
ClinVar Annotator: match by term: Progressive sensorineural hearing impairment |
ClinVar |
PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 PMID:28823815 PMID:29654543 PMID:33923309 More...
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NCBI chr15:46,193,498...46,197,989
Ensembl chr15:46,193,746...46,200,987
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G |
SLC26A4 |
solute carrier family 26 member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15279074 PMID:16053392 PMID:17322586 |
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NCBI chr 9:107,365,121...107,431,065
Ensembl chr 9:107,365,814...107,431,062
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G |
SLC26A5 |
solute carrier family 26 member 5 |
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ISO |
mRNA:decreased expression:organ of Corti (mouse) |
RGD |
PMID:19363478 |
RGD:9585667 |
NCBI chr 9:103,382,558...103,420,054
Ensembl chr 9:103,378,776...103,453,730
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G |
SLC52A2 |
solute carrier family 52 member 2 |
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ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
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NCBI chr 4:421,457...429,360
Ensembl chr 4:421,474...424,384
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G |
SLC7A14 |
solute carrier family 7 member 14 |
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ISO |
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MouseDO |
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NCBI chr13:109,108,461...109,231,712
Ensembl chr13:109,115,006...109,231,433
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G |
SLC7A8 |
solute carrier family 7 member 8 |
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ISO |
OMIM:304400 |
MouseDO |
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NCBI chr 7:75,854,700...75,921,931
Ensembl chr 7:75,854,882...75,921,931
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G |
SLITRK6 |
SLIT and NTRK like family member 6 |
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ISO |
OMIM:304400 |
MouseDO |
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NCBI chr11:56,508,713...56,522,270
Ensembl chr11:56,508,767...56,522,197
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G |
SOD2 |
superoxide dismutase 2 |
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ISO |
protein:increased activity:cochlea: |
RGD |
PMID:15109710 |
RGD:8547516 |
NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
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G |
SOX3 |
SRY-box transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: sensorineural hearing loss disorder |
ClinVar |
PMID:23757202 PMID:25741868 PMID:28492532 |
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NCBI chr X:115,017,704...115,020,601
Ensembl chr X:115,019,232...115,020,578
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G |
SPNS2 |
SPNS lysolipid transporter 2, sphingosine-1-phosphate |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
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NCBI chr12:50,454,051...50,491,172
Ensembl chr12:50,454,063...50,491,164
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G |
SRC |
SRC proto-oncogene, non-receptor tyrosine kinase |
treatment |
ISO |
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RGD |
PMID:24472721 |
RGD:11554193 |
NCBI chr17:40,470,970...40,524,862
Ensembl chr17:40,471,009...40,524,860
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G |
STRC |
stereocilin |
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ISO |
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RGD |
PMID:11687802 |
RGD:1599186 |
NCBI chr 1:127,830,759...127,852,392
Ensembl chr 1:127,835,622...127,852,339
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G |
STX4 |
syntaxin 4 |
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ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:30311386 PMID:36355422 |
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NCBI chr 3:17,422,266...17,431,377
Ensembl chr 3:17,416,842...17,431,053
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G |
TBX1 |
T-box transcription factor 1 |
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ISO |
DNA:frameshift mutation:CDS:p.G387AfsX73 (human) |
RGD |
PMID:32110744 |
RGD:155641234 |
NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
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G |
TCF19 |
transcription factor 19 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
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NCBI chr 7:23,558,326...23,562,074
Ensembl chr 7:23,558,353...23,562,072
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G |
TECTA |
tectorin alpha |
|
ISO |
ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss | ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 PMID:24586623 PMID:25741868 PMID:27627659 PMID:28000701 PMID:28492532 PMID:31163360 PMID:31554319 PMID:32853555 More...
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NCBI chr 9:48,120,786...48,286,275
Ensembl chr 9:48,211,798...48,286,274 Ensembl chr 9:48,211,798...48,286,274
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G |
TENM1 |
teneurin transmembrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
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NCBI chr X:101,853,340...102,641,299
Ensembl chr X:101,856,267...102,641,186
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G |
TFAM |
transcription factor A, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
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NCBI chr14:92,261,713...92,279,731
Ensembl chr14:92,259,403...92,279,731
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G |
TMC1 |
transmembrane channel like 1 |
|
ISO |
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment |
ClinVar |
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NCBI chr 1:225,714,601...226,111,045
Ensembl chr 1:225,929,109...226,109,469
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G |
TMCO1 |
transmembrane and coiled-coil domains 1 |
|
ISO |
ClinVar Annotator: match by term: sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 |
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NCBI chr 4:84,961,912...85,011,139
Ensembl chr 4:84,961,819...85,017,820
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G |
TMIE |
transmembrane inner ear |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:30303587 PMID:30311386 More...
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NCBI chr13:29,623,905...29,633,016
Ensembl chr13:29,624,154...29,633,013
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G |
TMPRSS3 |
transmembrane serine protease 3 |
|
ISO |
DFNB10, OMIM:605316, DFNB8 OMIM:601072 |
RGD |
PMID:11137999 |
RGD:1599443 |
NCBI chr13:205,707,501...205,733,037
Ensembl chr13:205,709,663...205,732,824
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G |
TNC |
tenascin C |
|
ISO |
ClinVar Annotator: match by term: Progressive sensorineural hearing impairment |
ClinVar |
PMID:25741868 |
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NCBI chr 1:255,533,235...255,630,381
Ensembl chr 1:255,533,238...255,630,376
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G |
TNF |
tumor necrosis factor |
|
ISO |
associated with Hearing Loss, Sensorineural;protein:increased expression:serum: |
RGD |
PMID:16988499 PMID:19684145 PMID:23165380 |
RGD:7387303 RGD:7394704 RGD:8142347 |
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415
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G |
TOP1MT |
DNA topoisomerase I mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
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NCBI chr 4:1,134,179...1,188,149
Ensembl chr 4:1,148,890...1,188,130
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G |
TOP3A |
DNA topoisomerase III alpha |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
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NCBI chr12:60,443,592...60,468,968
Ensembl chr12:60,443,677...60,468,964
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G |
USH1C |
USH1 protein network component harmonin |
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ISO |
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RGD |
PMID:20211154 |
RGD:8695932 |
NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247
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USH2A |
usherin |
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ISO |
ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:2564938 PMID:10729113 PMID:10909849 PMID:15015129 PMID:16963483 PMID:18273898 PMID:18463160 PMID:18641288 PMID:19683999 PMID:19881469 PMID:20507924 PMID:21569298 PMID:22135276 PMID:24033266 PMID:25262649 PMID:25333064 PMID:25575603 PMID:25649381 PMID:25741868 PMID:26927203 PMID:27460420 PMID:28041643 PMID:28492532 PMID:28559085 PMID:28944237 PMID:28945494 PMID:28984810 PMID:29293505 PMID:29986705 PMID:30718709 PMID:31054281 PMID:31266775 PMID:31370859 PMID:31429209 PMID:31456290 PMID:31589614 PMID:31817543 PMID:31964843 PMID:32037395 PMID:32188678 PMID:32531858 PMID:32581362 PMID:33089500 PMID:33105617 PMID:33576794 PMID:33737949 PMID:34426522 PMID:34781295 PMID:34906470 PMID:34948090 PMID:35052694 PMID:35266249 PMID:35452909 PMID:35836572 PMID:36011334 PMID:36460718 PMID:36785559 PMID:36819107 More...
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NCBI chr10:5,825,591...6,662,733
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USP31 |
ubiquitin specific peptidase 31 |
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ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
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NCBI chr 3:23,035,543...23,122,134
Ensembl chr 3:23,035,426...23,116,007
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G |
WFS1 |
wolframin ER transmembrane glycoprotein |
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ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss |
ClinVar |
PMID:12107816 PMID:22238590 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273
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G |
WHRN |
whirlin |
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ISO |
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RGD |
PMID:12833159 |
RGD:1580603 |
NCBI chr 1:255,009,765...255,095,281
Ensembl chr 1:255,009,771...255,095,222
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G |
ZSCAN10 |
zinc finger and SCAN domain containing 10 |
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ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 PMID:38386308 |
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NCBI chr 3:39,113,307...39,119,033
Ensembl chr 3:39,113,402...39,118,779
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G |
MT-CO1 |
mitochondrially encoded cytochrome c oxidase I |
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ISO |
ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY |
ClinVar |
PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 PMID:8680405 PMID:9742104 PMID:10577941 PMID:16152638 PMID:17659260 PMID:20301595 PMID:25741868 PMID:32906214 More...
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NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055
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G |
MT-ND1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
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ISO |
ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY |
ClinVar |
PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 PMID:8817331 PMID:9039999 PMID:9111378 PMID:9164619 PMID:9315872 PMID:9391883 PMID:9490575 PMID:9779807 PMID:9831149 PMID:9887373 PMID:9915970 PMID:9950117 PMID:10521300 PMID:10577941 PMID:10633132 PMID:10661905 PMID:10788333 PMID:10915767 PMID:11174059 PMID:11230176 PMID:11388757 PMID:11857751 PMID:11870684 PMID:12031626 PMID:12054632 PMID:12127547 PMID:12372057 PMID:12624722 PMID:12655418 PMID:12920080 PMID:12939650 PMID:12955586 PMID:14699607 PMID:14755216 PMID:15708009 PMID:15841390 PMID:15917167 PMID:16152638 PMID:16168391 PMID:16375862 PMID:16458854 PMID:16631122 PMID:16826519 PMID:16935512 PMID:16955413 PMID:17341440 PMID:17637808 PMID:17698299 PMID:17723226 PMID:17999439 PMID:18386806 PMID:18790089 PMID:18820594 PMID:18830133 PMID:18983818 PMID:19196684 PMID:19196685 PMID:19376484 PMID:19475720 PMID:19687236 PMID:19818876 PMID:19835846 PMID:20100600 PMID:20111055 PMID:20172897 PMID:20301595 PMID:20353758 PMID:20416460 PMID:21047563 PMID:21162657 PMID:21205314 PMID:21329993 PMID:21495045 PMID:21504270 PMID:21725156 PMID:21777984 PMID:21811586 PMID:21828074 PMID:22223843 PMID:22475488 PMID:22879993 PMID:22992668 PMID:23256547 PMID:23525847 PMID:24033266 PMID:24252789 PMID:24651602 PMID:24703164 PMID:25155176 PMID:25515069 PMID:25741868 PMID:25744662 PMID:26497601 PMID:26822237 PMID:27427311 PMID:28049726 PMID:28520359 PMID:29805548 PMID:32906214 More...
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NCBI chr MT:3,922...4,876
Ensembl chr MT:3,922...4,876
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G |
TRMU |
tRNA mitochondrial 2-thiouridylase |
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ISO |
ClinVar Annotator: match by term: Aminoglycoside-induced deafness | ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of | ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY |
OMIM ClinVar |
PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 PMID:21153446 PMID:21169334 PMID:21931168 PMID:23625533 PMID:25665837 PMID:25741868 PMID:26633542 PMID:28049726 PMID:28252636 PMID:28492532 PMID:28973083 PMID:30369941 PMID:30740308 PMID:31160058 PMID:32445240 PMID:33365252 PMID:33485800 PMID:34052969 PMID:36305855 PMID:38113276 More...
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NCBI chr 5:3,208,122...3,224,382
Ensembl chr 5:3,208,118...3,224,366
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G |
HOXA1 |
homeobox A1 |
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ISO |
ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: Navajo brainstem syndrome |
OMIM ClinVar |
PMID:16155570 PMID:18412118 PMID:25741868 PMID:28492532 |
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NCBI chr18:45,477,561...45,480,306
Ensembl chr18:45,477,461...45,480,152
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G |
HOXA2 |
homeobox A2 |
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ISO |
ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: Navajo brainstem syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr18:45,470,079...45,473,345
Ensembl chr18:45,470,862...45,473,876
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G |
AIFM1 |
apoptosis inducing factor mitochondria associated 1 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr X:106,676,596...106,708,290
Ensembl chr X:106,670,520...106,708,317
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G |
CACNA1A |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182
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G |
CDH2 |
cadherin 2 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:28492532 |
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NCBI chr 6:112,396,713...112,629,073
Ensembl chr 6:112,396,721...112,628,432
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G |
FDXR |
ferredoxin reductase |
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ISO |
ClinVar Annotator: match by term: Auditory dys-synchrony |
ClinVar |
PMID:25741868 PMID:28965846 PMID:29040572 |
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NCBI chr12:6,372,224...6,382,769
Ensembl chr12:6,372,009...6,382,769
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G |
KIF5A |
kinesin family member 5A |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr 5:22,813,617...22,851,976
Ensembl chr 5:22,816,854...22,851,973
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G |
MFN2 |
mitofusin 2 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438
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G |
MYO7A |
myosin VIIA |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
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G |
NEFL |
neurofilament light chain |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112
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G |
NOTCH3 |
notch receptor 3 |
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ISO |
ClinVar Annotator: match by term: Auditory dys-synchrony | ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:25741868 |
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NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344
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G |
OPA1 |
OPA1 mitochondrial dynamin like GTPase |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr13:130,624,771...130,718,345
Ensembl chr13:130,624,796...130,719,083
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G |
OTOF |
otoferlin |
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ISO |
ClinVar Annotator: match by term: Auditory dys-synchrony | ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:18381613 PMID:19250381 PMID:22575033 PMID:25741868 PMID:26818607 PMID:28492532 More...
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NCBI chr 3:112,478,188...112,581,105
Ensembl chr 3:112,478,027...112,581,104
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G |
RAB33A |
RAB33A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr X:106,708,402...106,723,803
Ensembl chr X:106,712,398...106,723,404
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G |
SLC52A3 |
solute carrier family 52 member 3 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32579787 |
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NCBI chr17:34,459,291...34,481,022
Ensembl chr17:34,459,359...34,481,026
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G |
TIMM8A |
translocase of inner mitochondrial membrane 8A |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:30634948 |
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NCBI chr X:82,978,128...82,981,038
Ensembl chr X:82,974,270...82,980,769
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G |
TP63 |
tumor protein p63 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068
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G |
TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578
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G |
TWNK |
twinkle mtDNA helicase |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:30818899 |
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NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792
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G |
WFS1 |
wolframin ER transmembrane glycoprotein |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
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NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273
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G |
HYAL1 |
hyaluronidase 1 |
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ISO |
ClinVar Annotator: match by term: Auroneurodental syndrome |
ClinVar |
PMID:34805998 |
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NCBI chr13:32,793,784...32,794,650
Ensembl chr13:32,793,572...32,794,700
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G |
HYAL3 |
hyaluronidase 3 |
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ISO |
ClinVar Annotator: match by term: Auroneurodental syndrome |
ClinVar |
PMID:34805998 |
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NCBI chr13:32,790,843...32,796,995
Ensembl chr13:32,790,850...32,796,563
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G |
DIAPH3 |
diaphanous related formin 3 |
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ISO |
ClinVar Annotator: match by term: AUDITORY NEUROPATHY, NONSYNDROMIC DOMINANT | ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 | ClinVar Annotator: match by term: DIAPH3-related condition |
OMIM ClinVar |
PMID:9536098 PMID:15520414 PMID:17576681 PMID:20624953 PMID:21220648 PMID:25741868 PMID:26467025 PMID:27658576 PMID:28492532 More...
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NCBI chr11:32,492,735...32,994,854
Ensembl chr11:32,492,740...32,994,844
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G |
ATP11A |
ATPase phospholipid transporting 11A |
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ISO |
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OMIM |
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NCBI chr11:78,292,734...78,402,108
Ensembl chr11:78,293,469...78,402,083
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G |
TMEM43 |
transmembrane protein 43 |
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ISO |
ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3 |
OMIM ClinVar |
PMID:18230648 PMID:20435227 PMID:21214875 PMID:21391237 PMID:21636032 PMID:23161701 PMID:23178689 PMID:23299917 PMID:23555315 PMID:23812740 PMID:23861362 PMID:24033266 PMID:25343256 PMID:25351510 PMID:25676813 PMID:25741868 PMID:25820315 PMID:26467025 PMID:26743238 PMID:26840987 PMID:28301460 PMID:28492532 PMID:29311375 PMID:30847666 PMID:31333075 PMID:31568572 PMID:32880476 PMID:33087929 PMID:34050020 PMID:35063694 PMID:37477868 More...
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NCBI chr13:70,397,069...70,417,213
Ensembl chr13:70,393,227...70,417,168
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G |
DNMT1 |
DNA methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy |
OMIM ClinVar |
PMID:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:17576681 PMID:21532572 PMID:22328086 PMID:23365052 PMID:25326637 PMID:25678562 PMID:25741868 PMID:28334952 PMID:28492532 PMID:30165906 PMID:31984424 More...
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NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844
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G |
DSPP |
dentin sialophosphoprotein |
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ISO |
ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 |
OMIM ClinVar |
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 More...
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NCBI chr 8:131,318,187...131,444,274
Ensembl chr 8:131,319,983...131,472,761
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G |
MYH14 |
myosin heavy chain 14 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 4 |
ClinVar |
PMID:15015131 PMID:15845534 PMID:16222661 PMID:20533261 PMID:23967202 PMID:24033266 PMID:24082139 PMID:25741868 PMID:26284702 PMID:26346818 PMID:26467025 PMID:27068579 PMID:27393652 PMID:27610647 PMID:28166811 PMID:28221712 PMID:28492532 PMID:30311386 PMID:30828794 PMID:31231018 PMID:31393079 PMID:34681017 More...
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NCBI chr 6:55,097,851...55,200,754
Ensembl chr 6:55,113,521...55,200,750
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G |
ATOH1 |
atonal bHLH transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Dominant progressive sensorineural hearing loss |
ClinVar |
PMID:25741868 PMID:33111345 |
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NCBI chr 8:125,768,232...125,770,619
Ensembl chr 8:125,768,286...125,770,545
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G |
ATP2B2 |
ATPase plasma membrane Ca2+ transporting 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
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NCBI chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128
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G |
DIABLO |
diablo IAP-binding mitochondrial protein |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 |
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NCBI chr14:30,498,885...30,519,846
Ensembl chr14:30,498,900...30,520,070
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G |
GREB1L |
GREB1 like retinoic acid receptor coactivator |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 PMID:32585897 |
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NCBI chr 6:106,545,882...106,693,711
Ensembl chr 6:106,419,943...106,691,625
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G |
LOC100621006 |
RE1-silencing transcription factor-like |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 PMID:34828371 |
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NCBI chr 8:56,048,280...56,215,011
Ensembl chr 8:56,035,150...56,215,013
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G |
MITF |
melanocyte inducing transcription factor |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 |
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NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,093
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G |
MYO6 |
myosin VI |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 |
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NCBI chr 1:89,992,860...90,137,767
Ensembl chr 1:89,992,866...90,137,734
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G |
P2RX2 |
purinergic receptor P2X 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:30311386 |
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NCBI chr14:22,854,828...22,858,574
Ensembl chr14:22,854,828...22,858,386
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G |
PDE1C |
phosphodiesterase 1C |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:29860631 |
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NCBI chr18:40,818,316...41,410,555
Ensembl chr18:40,820,644...41,409,087
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G |
PLS1 |
plastin 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing impairment | ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:30872814 PMID:31397523 |
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NCBI chr13:83,307,692...83,434,133
Ensembl chr13:83,308,007...83,434,128
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G |
SIX1 |
SIX homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:25741868 |
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NCBI chr 1:189,620,430...189,624,652
Ensembl chr 1:189,619,855...189,624,651
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G |
WFS1 |
wolframin ER transmembrane glycoprotein |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss |
ClinVar |
PMID:11295831 PMID:12955714 PMID:16648378 PMID:17492394 PMID:17603484 PMID:18060660 PMID:18544103 PMID:19877185 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21143470 PMID:21538838 PMID:21602428 PMID:21917145 PMID:22238590 PMID:24033266 PMID:24890733 PMID:25250959 PMID:25741868 PMID:26346818 PMID:26435059 PMID:26467025 PMID:26875006 PMID:27395765 PMID:28432734 PMID:28492532 PMID:29447883 PMID:29529044 PMID:30311386 PMID:30577886 PMID:32567228 PMID:32645618 PMID:33098801 PMID:33841295 PMID:33879153 PMID:34387732 PMID:34416374 PMID:34440452 PMID:34573359 PMID:34758253 PMID:34997062 PMID:35810424 PMID:35872528 PMID:35982127 PMID:36284460 PMID:36330437 PMID:36933359 PMID:36958120 PMID:37041640 More...
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NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273
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G |
DIAPH1 |
diaphanous related formin 1 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA | ClinVar Annotator: match by term: DIAPH1-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 1 | ClinVar Annotator: match by term: KONIGSMARK SYNDROME |
OMIM ClinVar |
PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 PMID:23804846 PMID:24033266 PMID:24781755 PMID:25342930 PMID:25558065 PMID:25640679 PMID:25741868 PMID:26011067 PMID:26463574 PMID:26467025 PMID:26912466 PMID:27707755 PMID:27808407 PMID:27911912 PMID:28492532 PMID:28815995 PMID:28983057 PMID:29758562 PMID:30311386 PMID:30896630 PMID:32678080 PMID:33176815 PMID:33229591 PMID:33662367 PMID:34125151 PMID:34279089 PMID:35307828 PMID:36118902 More...
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NCBI chr 2:143,158,691...143,271,110
Ensembl chr 2:143,158,585...143,271,147
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G |
ECSCR |
endothelial cell surface expressed chemotaxis and apoptosis regulator |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA |
ClinVar |
PMID:28492532 |
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NCBI chr 2:141,343,818...141,352,618
Ensembl chr 2:141,343,803...141,352,603
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G |
EIF4EBP3 |
eukaryotic translation initiation factor 4E binding protein 3 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA |
ClinVar |
PMID:28492532 |
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NCBI chr 2:142,303,881...142,305,719
Ensembl chr 2:142,303,859...142,305,716
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G |
EYA4 |
EYA transcriptional coactivator and phosphatase 4 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 10 | ClinVar Annotator: match by term: EYA4-Related Disorders |
OMIM ClinVar |
PMID:9536098 PMID:11159937 PMID:15735644 PMID:16199547 PMID:17567890 PMID:17568404 PMID:17576681 PMID:23861362 PMID:23990876 PMID:24033266 PMID:25681523 PMID:25741868 PMID:25781927 PMID:25963406 PMID:26084686 PMID:27068579 PMID:28492532 PMID:28798025 PMID:28831623 PMID:29030401 PMID:30165862 PMID:30311386 PMID:30828794 PMID:32107406 PMID:32277154 PMID:33745059 PMID:35802133 PMID:36633841 More...
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NCBI chr 1:30,260,784...30,575,593
Ensembl chr 1:30,261,917...30,533,604
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G |
MYO7A |
myosin VIIA |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 11 |
OMIM ClinVar |
PMID:3130723 PMID:3442652 PMID:8900236 PMID:9002678 PMID:9354784 PMID:9382091 PMID:9536098 PMID:9718356 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10612833 PMID:10930322 PMID:12112664 PMID:15028842 PMID:15043528 PMID:15121790 PMID:15221449 PMID:15300860 PMID:15660226 PMID:15823922 PMID:16199547 PMID:16400615 PMID:16449806 PMID:16470552 PMID:16652077 PMID:16679490 PMID:16963483 PMID:17361009 PMID:17576681 PMID:17960123 PMID:18181211 PMID:18323324 PMID:18463160 PMID:18484607 PMID:18700726 PMID:19074810 PMID:19156839 PMID:19299023 PMID:19461658 PMID:19683999 PMID:20052763 PMID:20146813 PMID:20497194 PMID:20513143 PMID:20613545 PMID:21150918 PMID:21311020 PMID:21436283 PMID:21487335 PMID:21569298 PMID:21738395 PMID:21873662 PMID:22135276 PMID:22681893 PMID:22690115 PMID:22785243 PMID:23148716 PMID:23208854 PMID:23226338 PMID:23237960 PMID:23383098 PMID:23451214 PMID:23451239 PMID:23591405 PMID:23770805 PMID:23804846 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24199935 PMID:24498627 PMID:24618850 PMID:24831256 PMID:24853665 PMID:24875298 PMID:25080338 PMID:25211151 PMID:25262649 PMID:25333064 PMID:25342930 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25525159 PMID:25558175 PMID:25587757 PMID:25741868 PMID:25788563 PMID:25798947 PMID:26226137 PMID:26309859 PMID:26338283 PMID:26346818 PMID:26467025 PMID:26486028 PMID:26633542 PMID:26791358 PMID:26872967 PMID:26969326 PMID:27068579 PMID:27160483 PMID:27344577 PMID:27460420 PMID:27573290 PMID:27610647 PMID:27729122 PMID:27743452 PMID:27766948 PMID:27884173 PMID:27911912 PMID:27957503 PMID:28000701 PMID:28041643 PMID:28472130 PMID:28492532 PMID:28559085 PMID:28731162 PMID:28802369 PMID:28944237 PMID:29048421 PMID:29099798 PMID:29196752 PMID:29276601 PMID:29490346 PMID:29625443 PMID:29692870 PMID:30029497 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30337596 PMID:30459346 PMID:30718709 PMID:30828346 PMID:30872718 PMID:30881389 PMID:31152317 PMID:31266775 PMID:31456290 PMID:31479088 PMID:31589614 PMID:31816670 PMID:31847883 PMID:31964843 PMID:31980526 PMID:32097363 PMID:32467589 PMID:32483926 PMID:32531858 PMID:32581362 PMID:32681043 PMID:32795431 PMID:32981126 PMID:33105617 PMID:33111345 PMID:33187236 PMID:33297549 PMID:33363762 PMID:33576163 PMID:33576794 PMID:33623043 PMID:33710140 PMID:33724713 PMID:33976695 PMID:34148116 PMID:34194829 PMID:34416374 PMID:34426522 PMID:34652575 PMID:34837038 PMID:34948090 PMID:35085295 PMID:35453549 PMID:35640668 PMID:35802133 PMID:35982127 PMID:36011334 PMID:36147510 PMID:36460718 PMID:36555390 PMID:36633841 PMID:36672771 PMID:37466950 PMID:37727480 More...
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NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
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G |
TECTA |
tectorin alpha |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12 |
OMIM ClinVar |
PMID:9536098 PMID:9590290 PMID:9949200 PMID:10196713 PMID:10987647 PMID:11087000 PMID:11333869 PMID:12021773 PMID:12162770 PMID:12746400 PMID:16199547 PMID:16718611 PMID:17431902 PMID:17576681 PMID:17661817 PMID:18575463 PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:22980975 PMID:23967202 PMID:24033266 PMID:24130743 PMID:24586623 PMID:25008054 PMID:25262649 PMID:25413827 PMID:25741868 PMID:26467025 PMID:27068579 PMID:27627659 PMID:27848944 PMID:28000701 PMID:28053790 PMID:28492532 PMID:28946916 PMID:29196752 PMID:29293505 PMID:30311386 PMID:30935366 PMID:31163360 PMID:31554319 PMID:32747562 PMID:32853555 PMID:33111345 PMID:33297549 PMID:34008892 PMID:34325055 PMID:34795337 More...
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NCBI chr 9:48,120,786...48,286,275
Ensembl chr 9:48,211,798...48,286,274 Ensembl chr 9:48,211,798...48,286,274
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G |
COL11A2 |
collagen type XI alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 13 |
OMIM ClinVar |
PMID:10581026 PMID:10677296 PMID:15372529 PMID:15558753 PMID:16033917 PMID:21204229 PMID:23967202 PMID:24033266 PMID:25633957 PMID:25741868 PMID:26969326 PMID:28492532 PMID:29907799 PMID:33105617 PMID:35741851 PMID:35802133 PMID:36633841 More...
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NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,491...25,234,888
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G |
POU4F3 |
POU class 4 homeobox 3 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 52 | ClinVar Annotator: match by term: Deafness, autosomal dominant 15 | ClinVar Annotator: match by term: POU4F3-related condition |
OMIM ClinVar |
PMID:9506947 PMID:12522684 PMID:14585957 PMID:18228599 PMID:19462854 PMID:20434433 PMID:24033266 PMID:24260153 PMID:25741868 PMID:26467025 PMID:27535032 PMID:28492532 PMID:29850532 PMID:30311386 PMID:32684921 PMID:32747562 PMID:34250087 PMID:37537203 More...
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NCBI chr 2:147,693,013...147,694,345
Ensembl chr 2:147,692,751...147,695,346
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G |
STRC |
stereocilin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 16 |
ClinVar |
PMID:22147502 PMID:24033266 PMID:25741868 PMID:26969326 |
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NCBI chr 1:127,830,759...127,852,392
Ensembl chr 1:127,835,622...127,852,339
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G |
TECTA |
tectorin alpha |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 16 |
ClinVar |
PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 PMID:24586623 PMID:25741868 PMID:27627659 PMID:28000701 PMID:28492532 PMID:31163360 PMID:31554319 PMID:32853555 More...
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NCBI chr 9:48,120,786...48,286,275
Ensembl chr 9:48,211,798...48,286,274 Ensembl chr 9:48,211,798...48,286,274
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G |
MYH9 |
myosin heavy chain 9 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration |
OMIM ClinVar |
PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:10603121 PMID:10973259 PMID:10973260 PMID:11023810 PMID:11159552 PMID:11590545 PMID:11752022 PMID:11776386 PMID:11935325 PMID:12533692 PMID:12621333 PMID:12649151 PMID:12792306 PMID:15339844 PMID:16098078 PMID:16162639 PMID:16818291 PMID:16969870 PMID:17146397 PMID:17655694 PMID:18059020 PMID:18330899 PMID:18676005 PMID:19408192 PMID:19557653 PMID:19572073 PMID:20002731 PMID:20221761 PMID:20301740 PMID:20416459 PMID:20588287 PMID:21542825 PMID:21908426 PMID:22123909 PMID:22477015 PMID:22627578 PMID:22995991 PMID:23144074 PMID:23207509 PMID:23349334 PMID:23409987 PMID:23804846 PMID:24033266 PMID:24130771 PMID:24186861 PMID:24643058 PMID:24890873 PMID:25077172 PMID:25505834 PMID:25741868 PMID:25752595 PMID:25752999 PMID:25949529 PMID:26056797 PMID:26226608 PMID:26346198 PMID:26387855 PMID:26467025 PMID:26942920 PMID:26969326 PMID:27068579 PMID:28059092 PMID:28492532 PMID:29090586 PMID:29451856 PMID:29532554 PMID:29782633 PMID:29907799 PMID:30245029 PMID:30311386 PMID:30471777 PMID:30556268 PMID:30712057 PMID:30720677 PMID:30916803 PMID:31064749 PMID:32100410 PMID:32315395 PMID:32545517 PMID:32604935 PMID:32757236 PMID:33532864 PMID:33710140 PMID:33855781 PMID:34310475 PMID:34355501 PMID:35584211 PMID:36100708 PMID:36646731 PMID:38650331 More...
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NCBI chr 5:11,365,603...11,456,475
Ensembl chr 5:11,360,660...11,456,472
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G |
ACTG1 |
actin gamma 1 |
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ISO |
ClinVar Annotator: match by term: ACTG1-related disorder | ClinVar Annotator: match by term: Deafness, autosomal dominant 20 |
OMIM ClinVar |
PMID:5654493 PMID:9536098 PMID:12519370 PMID:13680526 PMID:14684684 PMID:16773128 PMID:17576681 PMID:18414213 PMID:19419963 PMID:19477959 PMID:19548389 PMID:20301607 PMID:22200607 PMID:22366783 PMID:23506231 PMID:24033266 PMID:25052316 PMID:25741868 PMID:25792668 PMID:26188271 PMID:26467025 PMID:27240540 PMID:28000701 PMID:28492532 PMID:29196752 PMID:29357087 PMID:29620237 PMID:29671837 PMID:29907799 PMID:29986705 PMID:30008475 PMID:30311386 PMID:30622556 PMID:31116477 PMID:31231230 PMID:32028042 PMID:32341388 PMID:33584783 PMID:33604570 PMID:34448047 PMID:35802133 PMID:36633841 More...
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NCBI chr12:1,320,355...1,323,219
Ensembl chr12:1,313,641...1,323,217
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G |
RIPOR2 |
RHO family interacting cell polarization regulator 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 21 |
OMIM ClinVar |
PMID:10764236 PMID:25741868 PMID:28492532 PMID:32631815 |
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NCBI chr 7:19,609,358...19,842,345
Ensembl chr 7:19,609,358...19,838,093
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G |
BIN1 |
bridging integrator 1 |
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ISO |
ClinVar Annotator: match by term: DFNA 22 |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr15:25,328,679...25,379,675
Ensembl chr15:25,328,674...25,383,652
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G |
MYO6 |
myosin VI |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DFNA 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 22 |
OMIM ClinVar |
PMID:9536098 PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 PMID:16199547 PMID:17576681 PMID:18212818 PMID:18348273 PMID:23767834 PMID:24033266 PMID:24123366 PMID:25080041 PMID:25741868 PMID:25741877 PMID:25999546 PMID:26445815 PMID:26467025 PMID:26969326 PMID:26971995 PMID:28492532 PMID:28501645 PMID:29224747 PMID:30311386 PMID:30582396 PMID:31589614 PMID:32143290 PMID:32747562 PMID:33279834 PMID:33297549 PMID:33724713 PMID:35802133 PMID:35982127 PMID:36633841 PMID:36788145 More...
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NCBI chr 1:89,992,860...90,137,767
Ensembl chr 1:89,992,866...90,137,734
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G |
SIX1 |
SIX homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 23 |
OMIM ClinVar |
PMID:10777717 PMID:12843324 PMID:15141091 PMID:16652090 PMID:16971658 PMID:19497856 PMID:21254961 PMID:21280147 PMID:21700001 PMID:23435380 PMID:24033266 PMID:25326635 PMID:25741868 PMID:25788563 PMID:28492532 PMID:30311386 PMID:35802133 PMID:36633841 More...
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NCBI chr 1:189,620,430...189,624,652
Ensembl chr 1:189,619,855...189,624,651
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G |
SLC17A8 |
solute carrier family 17 member 8 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 25 | ClinVar Annotator: match by term: SLC17A8-related condition |
OMIM ClinVar |
PMID:11115382 PMID:18674745 PMID:23967202 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26797701 PMID:28492532 PMID:33229591 More...
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NCBI chr 5:83,741,641...83,809,472
Ensembl chr 5:83,741,715...83,800,808
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G |
TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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ISO |
OMIM:605583 |
MouseDO |
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NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578
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G |
LOC100621006 |
RE1-silencing transcription factor-like |
susceptibility |
ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 27 |
ClinVar OMIM |
PMID:25741868 PMID:28492532 PMID:29961578 PMID:34828371 |
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NCBI chr 8:56,048,280...56,215,011
Ensembl chr 8:56,035,150...56,215,013
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G |
GRHL2 |
grainyhead like transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 28 |
OMIM ClinVar |
PMID:12393799 PMID:23813623 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 4:35,368,788...35,565,394
Ensembl chr 4:35,371,136...35,564,919
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G |
KCNQ4 |
potassium voltage-gated channel subfamily Q member 4 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: DFNA 2 Nonsyndromic Hearing Loss | ClinVar Annotator: match by term: Deafness, autosomal dominant 2A | ClinVar Annotator: match by term: KCNQ4-related condition |
OMIM ClinVar |
PMID:8035838 PMID:9126484 PMID:9536098 PMID:10025409 PMID:10369879 PMID:10571947 PMID:10925378 PMID:11450843 PMID:11915881 PMID:12112653 PMID:15699719 PMID:16596322 PMID:17576681 PMID:18030493 PMID:18786918 PMID:18797286 PMID:18941426 PMID:20301388 PMID:20832469 PMID:20966080 PMID:21242547 PMID:21951272 PMID:22384008 PMID:22420747 PMID:23451214 PMID:23717403 PMID:23750663 PMID:24033266 PMID:25116015 PMID:25741868 PMID:26036578 PMID:26467025 PMID:26515070 PMID:27068579 PMID:28492532 PMID:30311386 PMID:30413759 PMID:31028865 PMID:31995783 PMID:32382995 PMID:34622280 More...
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NCBI chr 6:170,346,135...170,401,534
Ensembl chr 6:170,346,141...170,401,718
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G |
GJB3 |
gap junction protein beta 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 2b |
OMIM ClinVar |
PMID:9843210 PMID:12019212 PMID:16077902 PMID:19050930 PMID:21204020 PMID:23638949 PMID:24033266 PMID:25214170 PMID:25741868 PMID:28492532 PMID:29106878 PMID:31564438 PMID:32645618 More...
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NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,542
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G |
MYO3A |
myosin IIIA |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 30 |
ClinVar |
PMID:32519820 |
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NCBI chr10:49,392,119...49,623,575
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G |
ATP11A |
ATPase phospholipid transporting 11A |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 33 |
ClinVar |
PMID:25741868 PMID:30311386 PMID:35278131 |
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NCBI chr11:78,292,734...78,402,108
Ensembl chr11:78,293,469...78,402,083
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G |
COL11A2 |
collagen type XI alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 33 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,491...25,234,888
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G |
NLRP3 |
NLR family pyrin domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammation |
OMIM ClinVar |
PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 PMID:15593220 PMID:17038455 PMID:17213252 PMID:17393462 PMID:20159265 PMID:21810457 PMID:22566169 PMID:23421920 PMID:24033266 PMID:24123366 PMID:24135410 PMID:25038238 PMID:25596455 PMID:25741868 PMID:26020059 PMID:26467025 PMID:26531310 PMID:27612399 PMID:27994174 PMID:28492532 PMID:28692792 PMID:28847925 PMID:29159471 PMID:29922587 PMID:30407166 PMID:30808881 PMID:33329557 More...
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NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228
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G |
TMC1 |
transmembrane channel like 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 36 | ClinVar Annotator: match by term: TMC1-related condition |
OMIM ClinVar |
PMID:9536098 PMID:11850618 PMID:15354000 PMID:16134132 PMID:16199547 PMID:16287143 PMID:17250663 PMID:17576681 PMID:17877751 PMID:18414213 PMID:18616530 PMID:19180119 PMID:19187973 PMID:20373850 PMID:21250555 PMID:21252500 PMID:22105175 PMID:22607986 PMID:23208854 PMID:23767834 PMID:24033266 PMID:24416283 PMID:24827932 PMID:24949729 PMID:25074487 PMID:25388789 PMID:25741868 PMID:26011067 PMID:26467025 PMID:28492532 PMID:28501645 PMID:29196752 PMID:29533536 PMID:30303587 PMID:30311386 PMID:30896630 PMID:31028865 PMID:31541171 PMID:31854501 PMID:32747562 PMID:33095980 PMID:33168709 PMID:33524517 PMID:33724713 PMID:34523024 PMID:35407445 PMID:38066485 More...
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NCBI chr 1:225,714,601...226,111,045
Ensembl chr 1:225,929,109...226,109,469
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G |
USH2A |
usherin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 36 |
ClinVar |
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NCBI chr10:5,825,591...6,662,733
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G |
COL11A1 |
collagen type XI alpha 1 chain |
susceptibility |
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 37 |
ClinVar OMIM |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17999364 PMID:20513134 PMID:21035103 PMID:23922384 PMID:25240749 PMID:25741868 PMID:26377240 PMID:28315471 PMID:28492532 PMID:30245514 PMID:30311386 PMID:32381727 PMID:32427345 PMID:32578940 PMID:32756486 PMID:33169910 PMID:33605226 More...
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NCBI chr 4:115,638,381...115,841,679
Ensembl chr 4:115,634,172...115,840,708
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G |
GJB2 |
gap junction protein beta 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3a |
OMIM ClinVar |
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 PMID:2706105 PMID:2956987 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:9856479 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID:10369869 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10704187 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10807696 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10980526 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11179004 PMID:11216656 PMID:11298683 PMID:11313751 PMID:11313763 PMID:11354642 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12064630 PMID:12081719 PMID:12111646 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12372058 PMID:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12457340 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12668604 PMID:12673800 PMID:12684873 PMID:12700168 PMID:12746422 PMID:12786758 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12872268 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14643477 PMID:14676473 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14978038 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15617546 PMID:15617550 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15757815 PMID:15790391 PMID:15832357 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:15996214 PMID:16059934 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16154643 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16645853 PMID:16650073 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16931589 PMID:16945493 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17309986 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17431919 PMID:17444514 PMID:17462767 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17567887 PMID:17576681 PMID:17581693 PMID:17660464 PMID:17661817 PMID:17666888 PMID:17671735 PMID:17935238 PMID:17993581 PMID:18196482 PMID:18294064 PMID:18316665 PMID:18324688 PMID:18353197 PMID:18414213 PMID:18451998 PMID:18472371 PMID:18560174 PMID:18570691 PMID:18607988 PMID:18668259 PMID:18684989 PMID:18688874 PMID:18758381 PMID:18776652 PMID:18793701 PMID:18804553 PMID:18924167 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19101659 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19274344 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19384972 PMID:19465004 PMID:19567088 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19718752 PMID:19719946 PMID:19723508 PMID:19744334 PMID:19775242 PMID:19814620 PMID:19877196 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20031451 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20096356 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20441744 PMID:20442751 PMID:20497192 PMID:20553101 PMID:20563649 PMID:20593197 PMID:20607074 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20854437 PMID:20863150 PMID:20890442 PMID:20937258 PMID:20956747 PMID:20981092 PMID:21040787 PMID:21055240 PMID:21094084 PMID:21094651 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21298213 PMID:21298644 PMID:21366436 PMID:21388256 PMID:21392827 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21484990 PMID:21488715 PMID:21510145 PMID:21557232 PMID:21738759 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21836520 PMID:21844220 PMID:21868108 PMID:21910243 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22037723 PMID:22103400 PMID:22106692 PMID:22208444 PMID:22281373 PMID:22384008 PMID:22389666 PMID:22429511 PMID:22450542 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22567861 PMID:22574200 PMID:22592158 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22704424 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23039283 PMID:23073770 PMID:23141775 PMID:23266159 PMID:23328711 PMID:23451214 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23684175 PMID:23695287 PMID:23757202 PMID:23804846 PMID:23826813 PMID:23856378 PMID:23873582 PMID:23900770 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24158896 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 PMID:24372583 PMID:24387126 PMID:24507663 PMID:24529908 PMID:24551843 PMID:24596593 PMID:24611097 PMID:24612839 PMID:24645897 PMID:24654934 PMID:24706568 PMID:24737404 PMID:24762805 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24840842 PMID:24941117 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25153233 PMID:25162826 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25365227 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25587757 PMID:25625422 PMID:25628337 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25752103 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26397989 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26482070 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26763877 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27153395 PMID:27169813 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 PMID:27316387 PMID:27398341 PMID:27481527 PMID:27501294 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884173 PMID:27884957 PMID:28008688 PMID:28012523 PMID:28222800 PMID:28263784 PMID:28271504 PMID:28383030 PMID:28405014 PMID:28428247 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28640090 PMID:28651654 PMID:28704896 PMID:28900111 PMID:29062245 PMID:29106882 PMID:29140768 PMID:29148562 PMID:29196752 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29605365 PMID:29625052 PMID:29773520 PMID:29871260 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30068397 PMID:30086704 PMID:30094485 PMID:30146550 PMID:30168495 PMID:30245029 PMID:30275481 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30466042 PMID:30589569 PMID:30693673 PMID:30762455 PMID:30828346 PMID:30872814 PMID:30896630 PMID:30989077 PMID:31035178 PMID:31053783 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31195736 PMID:31346875 PMID:31370293 PMID:31379920 PMID:31419744 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31827275 PMID:31911633 PMID:31980526 PMID:31992338 PMID:32012697 PMID:32067424 PMID:32090102 PMID:32258544 PMID:32355288 PMID:32455934 PMID:32645618 PMID:32708339 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33187236 PMID:33333757 PMID:33524517 PMID:33597575 PMID:33614373 PMID:33928925 PMID:34062854 PMID:34161886 PMID:34276761 PMID:34335733 PMID:34403091 PMID:34440441 PMID:34515852 PMID:34581455 PMID:34652575 PMID:35016843 PMID:35182233 PMID:35301649 PMID:35336849 PMID:35396755 PMID:35864128 PMID:36048236 PMID:36474027 PMID:36672810 PMID:36788145 PMID:37239361 PMID:38730444 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 More...
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NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
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G |
GJB4 |
gap junction protein beta 4 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3a |
ClinVar |
PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532 |
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NCBI chr 6:91,004,794...91,008,231
Ensembl chr 6:91,007,200...91,008,000
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G |
CRYL1 |
crystallin lambda 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:27480936 PMID:28492532 |
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NCBI chr11:845,471...925,849
Ensembl chr11:845,475...931,648
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G |
GJA3 |
gap junction protein alpha 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr11:750,658...751,889
Ensembl chr11:750,658...751,800
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G |
GJB2 |
gap junction protein beta 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
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G |
GJB6 |
gap junction protein beta 6 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
OMIM ClinVar |
PMID:10471490 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 PMID:12419304 PMID:12788524 PMID:14708603 PMID:15213106 PMID:15769851 PMID:16547895 PMID:16950989 PMID:17160938 PMID:17259707 PMID:17666888 PMID:19723508 PMID:20536673 PMID:20858605 PMID:21731760 PMID:22106692 PMID:22617145 PMID:23219093 PMID:23757202 PMID:23863883 PMID:23926005 PMID:23981984 PMID:24033266 PMID:24052723 PMID:24514865 PMID:24522190 PMID:24685692 PMID:25214170 PMID:25262649 PMID:25741868 PMID:26551294 PMID:27068579 PMID:27137747 PMID:27480936 PMID:27817781 PMID:28492532 PMID:29739340 PMID:29771057 PMID:30311386 PMID:30620052 PMID:31015822 PMID:31589614 PMID:35062939 PMID:36926140 More...
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NCBI chr11:793,276...800,109
Ensembl chr11:793,280...800,046
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G |
IFT88 |
intraflagellar transport 88 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr11:943,444...1,025,617
Ensembl chr11:943,469...1,025,613
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G |
IL17D |
interleukin 17D |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr11:1,029,219...1,066,086
Ensembl chr11:1,029,109...1,066,085
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G |
XPO4 |
exportin 4 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr11:1,104,270...1,208,144
Ensembl chr11:1,105,014...1,208,116
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G |
XPO4 |
exportin 4 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
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NCBI chr11:1,054,816...1,095,118
Ensembl chr11:1,067,061...1,082,591
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G |
CRYM |
crystallin mu |
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ISO |
ClinVar Annotator: match by term: CRYM-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 40 |
OMIM ClinVar |
PMID:12471561 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 3:24,815,010...24,835,837
Ensembl chr 3:24,815,010...24,835,836
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G |
P2RX2 |
purinergic receptor P2X 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 41 | ClinVar Annotator: match by term: P2RX2-related condition |
OMIM ClinVar |
PMID:12161595 PMID:23345450 PMID:24033266 PMID:24211385 PMID:25741868 PMID:25788561 PMID:26467025 PMID:28492532 PMID:31636190 More...
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NCBI chr14:22,854,828...22,858,574
Ensembl chr14:22,854,828...22,858,386
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G |
CCDC50 |
coiled-coil domain containing 50 |
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ISO |
ClinVar Annotator: match by term: CCDC50-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 44 |
OMIM ClinVar |
PMID:12483295 PMID:17503326 PMID:24033266 PMID:24875298 PMID:25741868 PMID:28492532 PMID:30311386 More...
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NCBI chr13:128,619,223...128,690,964
Ensembl chr13:128,619,230...128,690,649
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G |
MYO1A |
myosin IA |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 48 |
ClinVar |
PMID:12736868 PMID:24033266 PMID:24616153 PMID:25741868 |
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NCBI chr 5:22,338,024...22,363,528
Ensembl chr 5:22,338,029...22,363,568
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G |
CEACAM16 |
CEA cell adhesion molecule 16, tectorial membrane component |
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ISO |
OMIM:600652 |
MouseDO |
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NCBI chr 6:51,217,085...51,228,458
Ensembl chr 6:51,220,812...51,231,761
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G |
MYH14 |
myosin heavy chain 14 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 4A | ClinVar Annotator: match by term: Deafness, autosomal dominant 4A | ClinVar Annotator: match by term: MYH14-related condition |
OMIM ClinVar |
PMID:15015131 PMID:15845534 PMID:16222661 PMID:20533261 PMID:23967202 PMID:24033266 PMID:24082139 PMID:25741868 PMID:26284702 PMID:26346818 PMID:26467025 PMID:27068579 PMID:27393652 PMID:27610647 PMID:28166811 PMID:28221712 PMID:28492532 PMID:30311386 PMID:30828794 PMID:31231018 PMID:31393079 PMID:34681017 More...
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NCBI chr 6:55,097,851...55,200,754
Ensembl chr 6:55,113,521...55,200,750
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G |
CEACAM16 |
CEA cell adhesion molecule 16, tectorial membrane component |
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ISO |
ClinVar Annotator: match by term: CEACAM16-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 4b |
OMIM ClinVar |
PMID:7655461 PMID:21368133 PMID:24033266 PMID:25589040 PMID:25741868 PMID:28492532 PMID:30311386 PMID:35802133 PMID:36633841 More...
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NCBI chr 6:51,217,085...51,228,458
Ensembl chr 6:51,220,812...51,231,761
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G |
GSDME |
gasdermin E |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 5 | ClinVar Annotator: match by term: GSDME-related condition |
OMIM ClinVar |
PMID:7427029 PMID:9536098 PMID:14676472 PMID:15173223 PMID:17427029 PMID:17576681 PMID:17868390 PMID:24033266 PMID:24164807 PMID:25741868 PMID:28492532 PMID:29266521 PMID:29849037 PMID:30311386 PMID:34906502 PMID:35114279 More...
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NCBI chr18:47,524,637...47,583,748
Ensembl chr18:47,526,797...47,583,731
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G |
MIR96 |
microRNA mir-96 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 50 | ClinVar Annotator: match by term: MIR96-related condition |
OMIM ClinVar |
PMID:14757864 PMID:19363479 PMID:24033266 |
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NCBI chr18:18,982,506...18,982,590
Ensembl chr18:18,982,506...18,982,590
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G |
TJP2 |
tight junction protein 2 |
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ISO |
ClinVar Annotator: match by term: CHROMOSOME 9q21.11 DUPLICATION SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 51 |
ClinVar |
PMID:20602916 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28924228 PMID:29238877 More...
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NCBI chr 1:222,474,518...222,612,989
Ensembl chr 1:222,474,639...222,612,983
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G |
PAPPA |
pappalysin 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 56 |
ClinVar |
PMID:21681106 PMID:23936043 |
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NCBI chr 1:256,544,496...256,784,813
Ensembl chr 1:256,544,928...256,780,760
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G |
TNC |
tenascin C |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 56 | ClinVar Annotator: match by term: TNC-related condition |
OMIM ClinVar |
PMID:21681106 PMID:23936043 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29531218 PMID:30311386 PMID:31190668 PMID:36597107 More...
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NCBI chr 1:255,533,235...255,630,381
Ensembl chr 1:255,533,238...255,630,376
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G |
TNFSF8 |
TNF superfamily member 8 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 56 |
ClinVar |
PMID:21681106 PMID:23936043 |
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NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073
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G |
CNRIP1 |
cannabinoid receptor interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr 3:73,939,486...73,963,735
Ensembl chr 3:73,939,481...73,943,131
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G |
PLEK |
pleckstrin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr 3:73,877,741...73,910,163
Ensembl chr 3:73,877,743...73,906,667
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G |
PPP3R1 |
protein phosphatase 3 regulatory subunit B, alpha |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 58 |
ClinVar |
PMID:36553541 |
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NCBI chr 3:74,004,620...74,068,173
Ensembl chr 3:74,000,517...74,068,172
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G |
WFS1 |
wolframin ER transmembrane glycoprotein |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38 |
OMIM ClinVar |
PMID:3126496 PMID:3442652 PMID:3478949 PMID:9536098 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10624825 PMID:10679252 PMID:10760554 PMID:11161832 PMID:11244483 PMID:11295831 PMID:11317350 PMID:11694551 PMID:11709537 PMID:11709538 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12490066 PMID:12565131 PMID:12707188 PMID:12754709 PMID:12782971 PMID:12955714 PMID:15008830 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:15852062 PMID:15912360 PMID:16151413 PMID:16408729 PMID:16648378 PMID:16806192 PMID:17492394 PMID:17517145 PMID:17568405 PMID:17576681 PMID:17603484 PMID:18040659 PMID:18060660 PMID:18414213 PMID:18544103 PMID:18688868 PMID:18806274 PMID:19042979 PMID:19292454 PMID:19877185 PMID:20028947 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21127832 PMID:21143470 PMID:21446023 PMID:21538838 PMID:21602428 PMID:21917145 PMID:22238590 PMID:22938506 PMID:23257691 PMID:23373429 PMID:23429432 PMID:23535966 PMID:23595122 PMID:23845777 PMID:23856252 PMID:23981289 PMID:23990876 PMID:24033266 PMID:24875298 PMID:24890733 PMID:24909696 PMID:25133958 PMID:25211237 PMID:25262649 PMID:25326637 PMID:25388789 PMID:25392243 PMID:25497598 PMID:25714468 PMID:25741868 PMID:25842391 PMID:25895475 PMID:26025012 PMID:26064370 PMID:26284228 PMID:26346818 PMID:26435059 PMID:26467025 PMID:26875006 PMID:26969326 PMID:27068579 PMID:27167055 PMID:27185633 PMID:27395765 PMID:27617222 PMID:27911912 PMID:27959697 PMID:28432734 PMID:28492532 PMID:28559085 PMID:28802351 PMID:28870582 PMID:28974383 PMID:28993341 PMID:29529044 PMID:29549887 PMID:29563951 PMID:29632382 PMID:29988211 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30476936 PMID:30577886 PMID:30773290 PMID:30872718 PMID:31264968 PMID:31313226 PMID:31343797 PMID:31363008 PMID:31391115 PMID:31521625 PMID:31567480 PMID:31589614 PMID:31600780 PMID:31765440 PMID:31850070 PMID:31980526 PMID:32219690 PMID:32350710 PMID:32567228 PMID:32645618 PMID:32883240 PMID:33046911 PMID:33098801 PMID:33841295 PMID:33879153 PMID:33980734 PMID:34258273 PMID:34356170 PMID:34416374 PMID:34426522 PMID:34440452 PMID:34445196 PMID:34556497 PMID:34573359 PMID:34737607 PMID:34746052 PMID:34758253 PMID:34789499 PMID:34803393 PMID:34837038 PMID:34997062 PMID:35206658 PMID:35452662 PMID:35469785 PMID:35472603 PMID:35602877 PMID:35872528 PMID:36098976 PMID:36147510 PMID:36208030 PMID:36227502 PMID:36284460 PMID:36330437 PMID:36597107 PMID:36729443 PMID:36933359 PMID:37041640 PMID:37337769 PMID:37508961 PMID:37510321 More...
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NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273
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B3GNT4 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 |
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ISO |
ClinVar Annotator: match by term: DIABLO-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 64 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr14:30,520,075...30,524,275
Ensembl chr14:30,520,077...30,523,060
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DIABLO |
diablo IAP-binding mitochondrial protein |
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ISO |
ClinVar Annotator: match by term: DIABLO-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 64 |
OMIM ClinVar |
PMID:21722859 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr14:30,498,885...30,519,846
Ensembl chr14:30,498,900...30,520,070
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CCNF |
cyclin F |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 65 |
ClinVar |
PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:28951997 PMID:29358611 More...
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NCBI chr 3:39,585,597...39,603,088
Ensembl chr 3:39,585,607...39,603,079
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TBC1D24 |
TBC1 domain family member 24 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 65 |
OMIM ClinVar |
PMID:16199547 PMID:18414213 PMID:22277662 PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:24729539 PMID:24729547 PMID:24848745 PMID:25169651 PMID:25557349 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:27502353 PMID:27669036 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28663785 PMID:28726039 PMID:28951997 PMID:29100083 PMID:29358611 PMID:30108545 PMID:30180405 PMID:30311386 PMID:30335140 PMID:30680869 PMID:30776697 PMID:31112829 PMID:31216405 PMID:31257402 PMID:31618474 PMID:31780880 PMID:32004315 PMID:33063868 PMID:33281559 PMID:33619735 PMID:33986365 PMID:35350397 More...
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NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277
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CD164 |
CD164 molecule |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 66 | ClinVar Annotator: match by term: CD164-related condition |
OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:26197441 PMID:28492532 |
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NCBI chr 1:75,441,568...75,458,140
Ensembl chr 1:75,441,575...75,458,145
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OSBPL2 |
oxysterol binding protein like 2 |
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ISO |
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 chr17:61,643,263...61,683,178
Ensembl chr17:61,643,377...61,685,819
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HOMER2 |
homer scaffold protein 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 68 | ClinVar Annotator: match by term: HOMER2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:25816005 PMID:26467025 PMID:28492532 PMID:30047143 |
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NCBI chr 7:52,001,253...52,104,426
Ensembl chr 7:52,001,579...52,096,828
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KITLG |
KIT ligand |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 69 | ClinVar Annotator: match by term: Deafness, autosomal dominant 69, unilateral or asymmetric |
OMIM ClinVar |
PMID:16199547 PMID:25741868 PMID:26522471 PMID:28492532 PMID:33229591 |
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NCBI chr 5:94,016,992...94,110,219
Ensembl chr 5:94,017,387...94,110,214
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LMX1A |
LIM homeobox transcription factor 1 alpha |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 7 | ClinVar Annotator: match by term: LMX1A-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29754270 PMID:32840933 PMID:35711095 PMID:36140227 More...
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NCBI chr 4:85,403,287...85,570,738
Ensembl chr 4:85,406,223...85,571,443
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MCM2 |
minichromosome maintenance complex component 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 70 | ClinVar Annotator: match by term: MCM2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26196677 PMID:26467025 PMID:28492532 PMID:29706348 |
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NCBI chr13:72,630,378...72,651,270
Ensembl chr13:72,630,380...72,657,786
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DMXL2 |
Dmx like 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 71 |
OMIM ClinVar |
PMID:25741868 PMID:27657680 PMID:28492532 PMID:33715530 PMID:35802133 PMID:36633841 More...
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NCBI chr 1:120,138,249...120,298,603
Ensembl chr 1:120,138,336...120,298,586
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SLC44A4 |
solute carrier family 44 member 4 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 72 | ClinVar Annotator: match by term: SLC44A4-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28013291 PMID:28492532 |
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NCBI chr 7:23,958,935...23,977,466
Ensembl chr 7:23,958,942...23,977,482
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PTPRQ |
protein tyrosine phosphatase receptor type Q |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 73 | ClinVar Annotator: match by term: PTPRQ-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26467025 PMID:29309402 PMID:30311386 PMID:31655630 |
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NCBI chr 5:100,787,025...101,081,145
Ensembl chr 5:100,787,027...101,033,334
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PDE1C |
phosphodiesterase 1C |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 74 | ClinVar Annotator: match by term: PDE1C-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29860631 |
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NCBI chr18:40,818,316...41,410,555
Ensembl chr18:40,820,644...41,409,087
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TRRAP |
transformation/transcription domain associated protein |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 75 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31231791 |
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NCBI chr 3:5,903,205...6,029,343
Ensembl chr 3:5,909,022...6,029,333
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PLS1 |
plastin 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 76 | ClinVar Annotator: match by term: PLS1-related condition |
OMIM ClinVar |
PMID:25124451 PMID:25741868 PMID:28492532 PMID:30872814 PMID:31397523 PMID:31432506 PMID:36537221 More...
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NCBI chr13:83,307,692...83,434,133
Ensembl chr13:83,308,007...83,434,128
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ABCC1 |
ATP binding cassette subfamily C member 1 |
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ISO |
ClinVar Annotator: match by term: ABCC1-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 77 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31273342 |
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NCBI chr 3:28,360,868...28,472,940
Ensembl chr 3:28,360,873...28,473,456
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SLC12A2 |
solute carrier family 12 member 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 78 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30740830 PMID:32294086 PMID:32658972 PMID:32754646 PMID:34226616 More...
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NCBI chr 2:131,016,430...131,109,307
Ensembl chr 2:131,016,418...131,109,299
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SCD5 |
stearoyl-CoA desaturase 5 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 79 |
OMIM ClinVar |
PMID:31972369 |
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NCBI chr 8:135,507,346...135,634,031
Ensembl chr 8:135,507,296...135,634,021
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GREB1L |
GREB1 like retinoic acid receptor coactivator |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 80 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29100090 PMID:29955957 PMID:32378186 PMID:32585897 More...
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NCBI chr 6:106,545,882...106,693,711
Ensembl chr 6:106,419,943...106,691,625
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MYO7A |
myosin VIIA |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 80 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
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ELMOD3 |
ELMO domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 81 | ClinVar Annotator: match by term: ELMOD3-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29713870 |
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NCBI chr 3:59,369,816...59,401,193
Ensembl chr 3:59,369,820...59,401,151
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ATP2B2 |
ATPase plasma membrane Ca2+ transporting 2 |
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ISO |
ClinVar Annotator: match by term: ATP2B2-related Progressive hearing impairment | ClinVar Annotator: match by term: Deafness, autosomal dominant 82 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30535804 |
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NCBI chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128
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MAP1B |
microtubule associated protein 1B |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 83 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:33268592 |
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NCBI chr16:48,403,338...48,501,453
Ensembl chr16:48,403,568...48,498,885
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ATP11A |
ATPase phospholipid transporting 11A |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 84 |
ClinVar OMIM |
PMID:25741868 PMID:30311386 PMID:35278131 |
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NCBI chr11:78,292,734...78,402,108
Ensembl chr11:78,293,469...78,402,083
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USP48 |
ubiquitin specific peptidase 48 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 85 |
OMIM ClinVar |
PMID:25741868 PMID:34059922 |
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NCBI chr 6:79,744,928...79,810,241
Ensembl chr 6:79,744,932...79,810,220
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THOC1 |
THO complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 86 |
ClinVar OMIM |
PMID:32776944 |
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NCBI chr 6:106,039,262...106,088,125
Ensembl chr 6:106,040,042...106,088,021
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PI4KB |
phosphatidylinositol 4-kinase beta |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 87 | ClinVar Annotator: match by term: PI4KB-related condition |
ClinVar OMIM |
PMID:33358777 |
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NCBI chr 4:97,918,234...97,949,929
Ensembl chr 4:97,918,245...97,949,931
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EPHA10 |
EPH receptor A10 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 88 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr 6:93,764,732...93,804,069
Ensembl chr 6:93,765,128...93,803,894
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ATOH1 |
atonal bHLH transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: ATOH1-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 89 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:33111345 |
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NCBI chr 8:125,768,232...125,770,619
Ensembl chr 8:125,768,286...125,770,545
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COCH |
cochlin |
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ISO |
ClinVar Annotator: match by term: COCH-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 9 |
OMIM ClinVar |
PMID:8817345 PMID:9806553 PMID:9931344 PMID:10400989 PMID:11332404 PMID:12928864 PMID:14512963 PMID:16078052 PMID:16151338 PMID:16151339 PMID:16261627 PMID:16481359 PMID:17368553 PMID:18312449 PMID:18697796 PMID:19161137 PMID:20228067 PMID:20447147 PMID:21046548 PMID:21073934 PMID:22534022 PMID:24033266 PMID:24662630 PMID:25049087 PMID:25230692 PMID:25741868 PMID:25780252 PMID:26256111 PMID:26467025 PMID:28492532 PMID:28733840 PMID:30311386 PMID:32562050 PMID:35901072 More...
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NCBI chr 7:68,580,124...68,595,142
Ensembl chr 7:68,576,153...68,594,077
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MYO3A |
myosin IIIA |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 90 |
OMIM ClinVar |
PMID:25741868 PMID:26841241 PMID:28492532 PMID:29880844 PMID:34788109 |
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NCBI chr10:49,392,119...49,623,575
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ADGRV1 |
adhesion G protein-coupled receptor V1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28951997 PMID:30303587 |
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NCBI chr 2:97,703,648...98,277,847
Ensembl chr 2:97,735,053...98,275,748
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ANAPC15 |
anaphase promoting complex subunit 15 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:25741868 |
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NCBI chr 9:6,685,934...6,689,913
Ensembl chr 9:6,685,939...6,689,256
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ATP6V1B1 |
ATPase H+ transporting V1 subunit B1 |
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ISO |
OMIM:607197 |
MouseDO |
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NCBI chr 3:71,560,102...71,591,885
Ensembl chr 3:71,561,236...71,591,845
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BSND |
barttin CLCNK type accessory subunit beta |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:11734858 PMID:12574213 PMID:16328537 PMID:16572343 PMID:16935888 PMID:18776122 PMID:19646679 PMID:21269598 PMID:21541222 PMID:21865213 PMID:25741868 PMID:26537508 PMID:28492532 PMID:30303587 PMID:30311386 More...
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NCBI chr 6:157,424,389...157,432,571
Ensembl chr 6:157,425,878...157,432,580
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C14H10orf105 |
chromosome 14 C10orf105 homolog |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:11090341 PMID:11138009 PMID:16679490 PMID:21940737 PMID:25741868 PMID:27460420 PMID:28492532 PMID:30303587 PMID:30311386 More...
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NCBI chr14:74,630,827...74,639,180
Ensembl chr14:74,629,796...74,638,022
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CABP2 |
calcium binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:9536098 PMID:17576681 PMID:22981119 PMID:25741868 PMID:28492532 PMID:30303587 PMID:30311386 PMID:32681043 PMID:32991204 PMID:33269433 PMID:33666369 PMID:35150090 PMID:39062623 More...
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NCBI chr 2:5,014,888...5,020,705
Ensembl chr 2:5,014,810...5,020,775
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CDH23 |
cadherin related 23 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:8894709 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:15353998 PMID:16199547 PMID:16679490 PMID:17407589 PMID:18429043 PMID:19683999 PMID:19888295 PMID:20513143 PMID:20613545 PMID:21436283 PMID:21569298 PMID:21917145 PMID:21940737 PMID:22899989 PMID:23794683 PMID:23804846 PMID:24006325 PMID:24033266 PMID:24498627 PMID:25404053 PMID:25741868 PMID:25963016 PMID:26467025 PMID:27018795 PMID:27460420 PMID:27573290 PMID:27792758 PMID:28492532 PMID:29148562 PMID:30303587 PMID:30311386 PMID:31445392 PMID:31546658 PMID:31980526 PMID:32467589 PMID:32485727 PMID:32645618 PMID:32842620 PMID:35020051 PMID:35982127 PMID:36460718 More...
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NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834
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CEACAM16 |
CEA cell adhesion molecule 16, tectorial membrane component |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:30311386 |
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NCBI chr 6:51,217,085...51,228,458
Ensembl chr 6:51,220,812...51,231,761
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CIB2 |
calcium and integrin binding family member 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:23023331 PMID:24033266 PMID:25741868 PMID:26214305 PMID:26426422 PMID:28492532 PMID:28663585 PMID:29112224 PMID:30303587 PMID:30311386 PMID:34837038 More...
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NCBI chr 7:47,807,806...47,813,400
Ensembl chr 7:47,788,646...47,813,399
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CLCC1 |
chloride channel CLIC like 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
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NCBI chr 4:111,080,648...111,101,007
Ensembl chr 4:111,080,682...111,101,303
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CLCNK |
chloride voltage-gated channel K |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:30303587 |
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NCBI chr 6:75,178,914...75,192,670
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CLDN14 |
claudin 14 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:11163249 PMID:15880785 PMID:22246673 PMID:25741868 PMID:30303587 PMID:30311386 More...
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NCBI chr13:200,121,796...200,201,712
Ensembl chr13:200,128,477...200,145,525
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G |
CLIC5 |
chloride intracellular channel 5 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
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NCBI chr 7:40,683,044...40,808,017
Ensembl chr 7:40,682,907...40,863,886
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G |
DYSF |
dysferlin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB |
ClinVar |
PMID:28492532 |
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NCBI chr 3:71,020,143...71,237,658
Ensembl chr 3:71,020,144...71,246,967
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EDNRB |
endothelin receptor type B |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:14633923 PMID:16944573 PMID:17554617 PMID:18162831 PMID:20127975 PMID:25741868 PMID:29106856 PMID:30303587 PMID:30936914 PMID:31240788 PMID:32747562 PMID:33095980 PMID:35790984 More...
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NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884
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EPS8 |
EGFR pathway substrate 8, signaling adaptor |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:25741868 PMID:30303587 |
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NCBI chr 5:56,817,445...57,005,117
Ensembl chr 5:56,817,606...57,005,113
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G |
ESPN |
espin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
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NCBI chr 6:67,284,106...67,316,577
Ensembl chr 6:67,284,079...67,316,591
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ESRRB |
estrogen related receptor beta |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:23967202 PMID:24033266 PMID:30303587 PMID:33524517 |
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NCBI chr 7:99,511,135...99,699,478
Ensembl chr 7:99,514,168...99,699,011
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GIPC3 |
GIPC PDZ domain containing family member 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
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NCBI chr 2:75,082,048...75,090,145
Ensembl chr 2:75,083,362...75,089,756
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GJB2 |
gap junction protein beta 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:3 PMID:1511312 PMID:2104787 PMID:2706105 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9819448 PMID:9856479 PMID:10204859 PMID:10218527 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10508996 PMID:10544226 PMID:10607953 PMID:10633133 PMID:10713883 PMID:10751669 PMID:10782932 PMID:10830906 PMID:10980526 PMID:10982180 PMID:10982182 PMID:11313751 PMID:11313763 PMID:11354642 PMID:11386851 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551104 PMID:11556849 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11807148 PMID:11935342 PMID:11968091 PMID:12081719 PMID:12121355 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12239718 PMID:12372058 PMID:12505163 PMID:12522556 PMID:12560944 PMID:12668604 PMID:12684873 PMID:12700168 PMID:12746422 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:14070830 PMID:14643477 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14985372 PMID:14986832 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15151513 PMID:15219044 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15617550 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15790391 PMID:15855033 PMID:15954104 PMID:15964725 PMID:15967879 PMID:15996214 PMID:16059934 PMID:16076412 PMID:16088916 PMID:16125251 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379542 PMID:16380907 PMID:16650073 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16868655 PMID:16945493 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17253936 PMID:17331080 PMID:17406097 PMID:17428550 PMID:17462767 PMID:17553572 PMID:17576681 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18294064 PMID:18414213 PMID:18451998 PMID:18570691 PMID:18776652 PMID:18793701 PMID:18804553 PMID:18924167 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:19072567 PMID:19157576 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19384972 PMID:19465004 PMID:19707039 PMID:19715472 PMID:19814620 PMID:19925344 PMID:19929407 PMID:19929408 PMID:20022641 PMID:20073550 PMID:20086291 PMID:20096356 PMID:20201936 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20407643 PMID:20563649 PMID:20739944 PMID:20815033 PMID:20890442 PMID:21040787 PMID:21122151 PMID:21220926 PMID:21465647 PMID:21468573 PMID:21488715 PMID:21510145 PMID:21776002 PMID:21811586 PMID:21910243 PMID:22000900 PMID:22106692 PMID:22281373 PMID:22567152 PMID:22567369 PMID:22574200 PMID:22613756 PMID:22695344 PMID:22855627 PMID:22975760 PMID:22981120 PMID:22995991 PMID:23073770 PMID:23141775 PMID:23451214 PMID:23489192 PMID:23504403 PMID:23637863 PMID:23638949 PMID:23668481 PMID:23680645 PMID:23757202 PMID:23873582 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24158611 PMID:24346070 PMID:24387126 PMID:24529908 PMID:24654934 PMID:24737404 PMID:24762805 PMID:24793888 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25153233 PMID:25189242 PMID:25262649 PMID:25288386 PMID:25326637 PMID:25388846 PMID:25555641 PMID:25636251 PMID:25741868 PMID:25999548 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26188157 PMID:26381000 PMID:26445815 PMID:26467025 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26969326 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27308839 PMID:27316387 PMID:27481527 PMID:27623246 PMID:27843504 PMID:28428247 PMID:28489599 PMID:28492532 PMID:29062245 PMID:29362677 PMID:29501291 PMID:29921236 PMID:29926981 PMID:30086704 PMID:30094485 PMID:30303587 PMID:30311386 PMID:30431684 PMID:30872814 PMID:30989077 PMID:31160754 PMID:31346875 PMID:31562289 PMID:31827275 PMID:32708339 PMID:32747562 PMID:33187236 PMID:33524517 PMID:33614373 PMID:34440441 PMID:35016843 PMID:35396755 PMID:36474027 PMID:37239361 More...
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NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
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GJB3 |
gap junction protein beta 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:10587579 |
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NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,542
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GOSR2 |
golgi SNAP receptor complex member 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:35802133 PMID:37074134 |
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NCBI chr12:17,768,082...17,799,313
Ensembl chr12:17,768,111...17,789,315
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GPR156 |
G protein-coupled receptor 156 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:37814107 |
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NCBI chr13:139,974,430...140,074,176
Ensembl chr13:140,007,711...140,074,166
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GPSM2 |
G protein signaling modulator 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:20602914 PMID:22578326 PMID:25741868 PMID:30303587 PMID:32747562 |
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NCBI chr 4:111,100,912...111,165,902
Ensembl chr 4:111,102,396...111,165,886
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GRXCR2 |
glutaredoxin and cysteine rich domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
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NCBI chr 2:147,215,061...147,231,792
Ensembl chr 2:147,216,279...147,232,478
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ILDR1 |
immunoglobulin like domain containing receptor 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:15641023 PMID:21255762 PMID:25741868 PMID:30303587 |
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NCBI chr13:138,530,905...138,575,483
Ensembl chr13:138,530,910...138,572,189
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KARS1 |
lysyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 PMID:30252186 PMID:30311386 PMID:30369941 PMID:31116475 More...
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NCBI chr 6:12,057,475...12,073,749
Ensembl chr 6:12,056,571...12,073,748
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G |
KCNJ10 |
potassium inwardly rectifying channel subfamily J member 10 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:25741868 PMID:26467025 PMID:27171548 PMID:28492532 |
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NCBI chr 4:90,421,956...90,457,406
Ensembl chr 4:90,422,025...90,457,406
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G |
LHFPL5 |
LHFPL tetraspan subfamily member 5 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:16459341 PMID:25741868 PMID:30177809 PMID:30298622 PMID:30303587 PMID:30311386 More...
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NCBI chr 7:31,624,050...31,642,269
Ensembl chr 7:31,624,450...31,642,268
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G |
LOXHD1 |
lipoxygenase homology PLAT domains 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:16199547 PMID:19732867 PMID:21465660 PMID:24033266 PMID:25741868 PMID:25792669 PMID:28000701 PMID:28492532 PMID:29676012 PMID:30311386 More...
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NCBI chr 1:96,080,751...96,287,034
Ensembl chr 1:96,080,824...96,276,992
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G |
LRRC51 |
leucine rich repeat containing 51 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
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NCBI chr 9:6,663,122...6,673,272
Ensembl chr 9:6,663,134...6,673,271
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MARVELD2 |
MARVEL domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:24033266 PMID:30303587 |
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NCBI chr16:47,529,857...47,563,485
Ensembl chr16:47,530,068...47,563,482
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G |
MPZL2 |
myelin protein zero like 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29961571 PMID:29982980 PMID:30311386 |
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NCBI chr 9:45,566,365...45,578,168
Ensembl chr 9:45,565,513...45,578,185
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G |
MSRB3 |
methionine sulfoxide reductase B3 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:19650862 PMID:21185009 PMID:25741868 PMID:30303587 |
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NCBI chr 5:29,695,824...29,863,601
Ensembl chr 5:29,695,640...29,863,599
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MYH9 |
myosin heavy chain 9 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
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NCBI chr 5:11,365,603...11,456,475
Ensembl chr 5:11,360,660...11,456,472
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MYO15A |
myosin XVA |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17546645 PMID:17576681 PMID:19309289 PMID:25373420 PMID:25741868 PMID:26969326 PMID:27375115 PMID:27573290 PMID:28492532 PMID:30303587 PMID:30311386 PMID:30953472 PMID:35346193 PMID:35440622 PMID:35802133 PMID:36633841 More...
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NCBI chr12:60,533,502...60,582,645
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MYO3A |
myosin IIIA |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:25741868 |
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NCBI chr10:49,392,119...49,623,575
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G |
MYO6 |
myosin VI |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:89,992,860...90,137,767
Ensembl chr 1:89,992,866...90,137,734
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G |
MYO7A |
myosin VIIA |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:8900236 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10930322 PMID:12112664 PMID:15043528 PMID:16470552 PMID:16652077 PMID:16679490 PMID:16963483 PMID:18181211 PMID:19074810 PMID:20052763 PMID:21311020 PMID:21436283 PMID:21569298 PMID:21873662 PMID:22135276 PMID:22898263 PMID:23383098 PMID:23451239 PMID:23591405 PMID:23770805 PMID:24033266 PMID:24194196 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25558175 PMID:25741868 PMID:25798947 PMID:26226137 PMID:26469752 PMID:26791358 PMID:27344577 PMID:27460420 PMID:27573290 PMID:27957503 PMID:28041643 PMID:28492532 PMID:29692870 PMID:30303587 PMID:30311386 PMID:30459346 PMID:30718709 PMID:31479088 PMID:31964843 PMID:32531858 PMID:33089500 PMID:33187236 PMID:33269433 PMID:33671976 PMID:34148116 PMID:36147510 PMID:36909829 PMID:38189974 More...
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NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
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OTOA |
otoancorin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:23173898 PMID:24033266 PMID:28492532 PMID:30303587 |
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NCBI chr 3:23,570,216...23,662,948
Ensembl chr 3:23,570,382...23,662,480
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OTOF |
otoferlin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:12525542 PMID:14635104 PMID:18381613 PMID:19250381 PMID:19461658 PMID:20301429 PMID:22575033 PMID:24033266 PMID:25741868 PMID:26632695 PMID:27082237 PMID:28492532 PMID:30303587 PMID:30311386 PMID:34113375 PMID:34652575 More...
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NCBI chr 3:112,478,188...112,581,105
Ensembl chr 3:112,478,027...112,581,104
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OTOG |
otogelin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:30303587 PMID:30311386 |
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NCBI chr 2:41,497,201...41,590,564
Ensembl chr 2:41,497,200...41,584,948
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G |
OTOGL |
otogelin like |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
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NCBI chr 5:101,099,525...101,318,254
Ensembl chr 5:101,100,282...101,251,884
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G |
PCDH15 |
protocadherin related 15 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30303587 |
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NCBI chr14:95,530,168...96,388,032
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G |
PDZD7 |
PDZ domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:20440071 PMID:25741868 PMID:28492532 PMID:29048736 PMID:30311386 PMID:31253780 More...
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NCBI chr14:112,088,332...112,111,348
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G |
PJVK |
pejvakin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:17301963 PMID:17718875 PMID:19888295 PMID:21696384 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 PMID:32747562 More...
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NCBI chr15:84,157,864...84,165,763
Ensembl chr15:84,158,639...84,165,906
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G |
POU4F3 |
POU class 4 homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
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NCBI chr 2:147,693,013...147,694,345
Ensembl chr 2:147,692,751...147,695,346
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G |
PRKRA |
protein activator of interferon induced protein kinase EIF2AK2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr15:84,134,273...84,156,596
Ensembl chr15:84,133,687...84,156,508
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G |
PSAP |
prosaposin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:18429043 PMID:23794683 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763
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G |
PTPRQ |
protein tyrosine phosphatase receptor type Q |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 PMID:30311386 |
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NCBI chr 5:100,787,025...101,081,145
Ensembl chr 5:100,787,027...101,033,334
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G |
RDX |
radixin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:25741868 |
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NCBI chr 9:38,243,608...38,299,561
Ensembl chr 9:38,220,447...38,322,097
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G |
SLC26A4 |
solute carrier family 26 member 4 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:9398842 PMID:9536098 PMID:9618166 PMID:9618167 PMID:10700480 PMID:10874637 PMID:10902795 PMID:11317356 PMID:11502831 PMID:11748854 PMID:11919333 PMID:11932316 PMID:12112665 PMID:12676893 PMID:12974744 PMID:14508505 PMID:14679580 PMID:15355436 PMID:15574297 PMID:15679828 PMID:15747138 PMID:15811013 PMID:15933521 PMID:16053392 PMID:16283880 PMID:16460646 PMID:16570074 PMID:16711435 PMID:16924389 PMID:16950989 PMID:17125574 PMID:17309986 PMID:17443271 PMID:17576681 PMID:17718863 PMID:17766716 PMID:18167283 PMID:18285825 PMID:18641518 PMID:18813951 PMID:19017801 PMID:19040761 PMID:19169484 PMID:19287372 PMID:19426954 PMID:19509082 PMID:19608655 PMID:19786220 PMID:20137612 PMID:20301640 PMID:20597900 PMID:20668687 PMID:20842945 PMID:21154317 PMID:21366435 PMID:21704276 PMID:21961810 PMID:22116358 PMID:22116360 PMID:22903915 PMID:23151025 PMID:23185506 PMID:23273637 PMID:23296490 PMID:23336812 PMID:23504402 PMID:23638949 PMID:23718755 PMID:23770805 PMID:23918157 PMID:23958391 PMID:23965030 PMID:24007330 PMID:24033266 PMID:24105851 PMID:24224479 PMID:24248179 PMID:24338212 PMID:24599119 PMID:24949729 PMID:25015771 PMID:25266519 PMID:25290043 PMID:25317404 PMID:25372295 PMID:25394566 PMID:25468468 PMID:25491636 PMID:25525159 PMID:25741868 PMID:26100058 PMID:26226137 PMID:26252218 PMID:26445815 PMID:26683941 PMID:26752218 PMID:26763877 PMID:27541434 PMID:27573290 PMID:27771369 PMID:28444304 PMID:28492532 PMID:28604962 PMID:28941661 PMID:28964290 PMID:29372807 PMID:30077349 PMID:30303587 PMID:30311386 PMID:30622556 PMID:30693673 PMID:30760291 PMID:31581539 PMID:31599023 PMID:31700827 PMID:31971949 PMID:32417962 PMID:32447495 PMID:32747562 PMID:33614372 PMID:34170635 PMID:34599368 PMID:35982127 More...
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NCBI chr 9:107,365,121...107,431,065
Ensembl chr 9:107,365,814...107,431,062
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SLC26A5 |
solute carrier family 26 member 5 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
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NCBI chr 9:103,382,558...103,420,054
Ensembl chr 9:103,378,776...103,453,730
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TECTA |
tectorin alpha |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:24033266 PMID:25741868 PMID:30303587 |
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NCBI chr 9:48,120,786...48,286,275
Ensembl chr 9:48,211,798...48,286,274 Ensembl chr 9:48,211,798...48,286,274
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TMC1 |
transmembrane channel like 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:11850618 PMID:16134132 PMID:16199547 PMID:17877751 PMID:18414213 PMID:18616530 PMID:19187973 PMID:20373850 PMID:21250555 PMID:21917145 PMID:22105175 PMID:22607986 PMID:23767834 PMID:24033266 PMID:24416283 PMID:24949729 PMID:25074487 PMID:25491636 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30303587 PMID:30311386 PMID:31028865 PMID:31379920 PMID:31541171 PMID:31854501 PMID:32747562 PMID:34523024 More...
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NCBI chr 1:225,714,601...226,111,045
Ensembl chr 1:225,929,109...226,109,469
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TMIE |
transmembrane inner ear |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:28492532 PMID:30303587 PMID:30311386 More...
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NCBI chr13:29,623,905...29,633,016
Ensembl chr13:29,624,154...29,633,013
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TMPRSS3 |
transmembrane serine protease 3 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:11137999 PMID:11424922 PMID:12920079 PMID:16021470 PMID:17551081 PMID:22975204 PMID:24033266 PMID:25741868 PMID:26226137 PMID:26445815 PMID:26969326 PMID:28492532 PMID:29889784 PMID:30303587 PMID:30311386 PMID:30622556 PMID:34440452 PMID:34868270 More...
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NCBI chr13:205,707,501...205,733,037
Ensembl chr13:205,709,663...205,732,824
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TOGARAM2 |
TOG array regulator of axonemal microtubules 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:20642360 PMID:38374469 |
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NCBI chr 3:110,231,899...110,291,523
Ensembl chr 3:110,231,017...110,275,267
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TOMT |
transmembrane O-methyltransferase |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
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TPRN |
taperin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:20170899 PMID:30303587 |
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TRIOBP |
TRIO and F-actin binding protein |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:16385457 PMID:16385458 PMID:20510926 PMID:28492532 PMID:30303587 PMID:30311386 More...
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NCBI chr 5:10,066,080...10,132,668
Ensembl chr 5:10,066,086...10,126,491
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USH1C |
USH1 protein network component harmonin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 PMID:12702164 PMID:17407589 PMID:20301442 PMID:21203349 PMID:21569298 PMID:22135276 PMID:24033266 PMID:25356976 PMID:25468891 PMID:25525159 PMID:25741868 PMID:26969326 PMID:27460420 PMID:28041643 PMID:28492532 PMID:30303587 PMID:30718709 More...
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NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247
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USH1G |
USH1 protein network component sans |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:25741868 PMID:30303587 |
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NCBI chr12:6,333,640...6,341,083
Ensembl chr12:6,334,310...6,340,361
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USH2A |
usherin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 PMID:28492532 PMID:30303587 More...
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NCBI chr10:5,825,591...6,662,733
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WHRN |
whirlin |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:30303587 |
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NCBI chr 1:255,009,765...255,095,281
Ensembl chr 1:255,009,771...255,095,222
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PPIP5K2 |
diphosphoinositol pentakisphosphate kinase 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 100 | ClinVar Annotator: match by term: PPIP5K2-related condition |
OMIM ClinVar |
PMID:15538632 PMID:25741868 PMID:29590114 |
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NCBI chr 2:108,596,733...108,690,859
Ensembl chr 2:108,585,959...108,690,858
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GRXCR2 |
glutaredoxin and cysteine rich domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 101 | ClinVar Annotator: match by term: GRXCR2-related condition |
OMIM ClinVar |
PMID:24619944 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 2:147,215,061...147,231,792
Ensembl chr 2:147,216,279...147,232,478
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EPS8 |
EGFR pathway substrate 8, signaling adaptor |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 102 | ClinVar Annotator: match by term: EPS8-related condition |
OMIM ClinVar |
PMID:24033266 PMID:24741995 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30303587 More...
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NCBI chr 5:56,817,445...57,005,117
Ensembl chr 5:56,817,606...57,005,113
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CLIC5 |
chloride intracellular channel 5 |
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ISO |
ClinVar Annotator: match by term: CLIC5-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 103 |
OMIM ClinVar |
PMID:24033266 PMID:24781754 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 7:40,683,044...40,808,017
Ensembl chr 7:40,682,907...40,863,886
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GJB2 |
gap junction protein beta 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 104 |
ClinVar |
PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9819448 PMID:10204859 PMID:10218527 PMID:10376574 PMID:10422812 PMID:10477435 PMID:10508996 PMID:10544226 PMID:10607953 PMID:10633133 PMID:10713883 PMID:10751669 PMID:10782932 PMID:10982182 PMID:11313751 PMID:11313763 PMID:11386851 PMID:11483639 PMID:11493200 PMID:11551104 PMID:11668644 PMID:11807148 PMID:11935342 PMID:12081719 PMID:12172392 PMID:12176036 PMID:12239718 PMID:12522556 PMID:12684873 PMID:12746422 PMID:12786762 PMID:12792423 PMID:14070830 PMID:14694360 PMID:14735592 PMID:14985372 PMID:14986832 PMID:15070423 PMID:15113126 PMID:15359540 PMID:15666300 PMID:15954104 PMID:15967879 PMID:16088916 PMID:16336662 PMID:16380907 PMID:16650073 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16868655 PMID:17406097 PMID:17428550 PMID:17553572 PMID:17576681 PMID:17935238 PMID:17993581 PMID:18294064 PMID:18414213 PMID:18804553 PMID:18925674 PMID:18985073 PMID:19371219 PMID:19375528 PMID:19384972 PMID:19814620 PMID:19925344 PMID:20022641 PMID:20073550 PMID:20086291 PMID:20201936 PMID:20236118 PMID:20301449 PMID:20739944 PMID:20815033 PMID:21122151 PMID:21220926 PMID:21465647 PMID:21468573 PMID:21776002 PMID:21910243 PMID:22000900 PMID:22281373 PMID:22567152 PMID:22567369 PMID:22855627 PMID:22975760 PMID:22981120 PMID:23489192 PMID:23680645 PMID:23757202 PMID:24039984 PMID:24158611 PMID:24346070 PMID:24529908 PMID:24793888 PMID:24840842 PMID:24959830 PMID:25012701 PMID:25189242 PMID:25288386 PMID:25555641 PMID:25741868 PMID:25999548 PMID:26059209 PMID:26096904 PMID:26445815 PMID:26467025 PMID:26969326 PMID:27177978 PMID:27224056 PMID:27481527 PMID:27843504 PMID:28428247 PMID:28492532 PMID:29362677 PMID:29501291 PMID:30086704 PMID:30303587 PMID:30311386 PMID:30431684 PMID:30872814 PMID:31160754 PMID:31346875 PMID:32708339 PMID:32747562 PMID:33524517 PMID:34440441 PMID:35396755 PMID:36474027 PMID:37239361 More...
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NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
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RIPOR2 |
RHO family interacting cell polarization regulator 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 104 | ClinVar Annotator: match by term: RIPOR2-related condition |
OMIM ClinVar |
PMID:24033266 PMID:24958875 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 7:19,609,358...19,842,345
Ensembl chr 7:19,609,358...19,838,093
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EPS8 |
EGFR pathway substrate 8, signaling adaptor |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 106 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:56,817,445...57,005,117
Ensembl chr 5:56,817,606...57,005,113
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EPS8L2 |
EPS8 signaling adaptor L2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 106 | ClinVar Annotator: match by term: EPS8L2-related condition |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26282398 PMID:28281779 PMID:28492532 PMID:32747562 More...
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NCBI chr 2:435,257...452,630
Ensembl chr 2:433,649...452,630
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WBP2 |
WW domain binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 107 | ClinVar Annotator: match by term: WBP2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26881968 PMID:28492532 |
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NCBI chr12:5,565,112...5,573,277
Ensembl chr12:5,565,137...5,573,274
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ROR1 |
receptor tyrosine kinase like orphan receptor 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 108 | ClinVar Annotator: match by term: ROR1-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26467025 PMID:27162350 PMID:28492532 |
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NCBI chr 6:148,314,575...148,834,659
Ensembl chr 6:148,315,286...148,761,524
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ESRP1 |
epithelial splicing regulatory protein 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 109 | ClinVar Annotator: match by term: ESRP1-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29107558 |
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NCBI chr 4:41,993,944...42,061,706
Ensembl chr 4:41,993,948...42,061,236
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COCH |
cochlin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 110 |
OMIM ClinVar |
PMID:24033266 PMID:25230692 PMID:25741868 PMID:28492532 PMID:29449721 PMID:30311386 PMID:31126177 PMID:32562050 More...
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NCBI chr 7:68,580,124...68,595,142
Ensembl chr 7:68,576,153...68,594,077
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MPZL2 |
myelin protein zero like 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 111 | ClinVar Annotator: match by term: MPZL2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29961571 PMID:29982980 PMID:30311386 PMID:35599849 PMID:35802133 PMID:36633841 More...
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NCBI chr 9:45,566,365...45,578,168
Ensembl chr 9:45,565,513...45,578,185
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PEX2 |
peroxisomal biogenesis factor 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 111 |
ClinVar |
PMID:9452066 PMID:10528859 PMID:10652207 PMID:14630978 PMID:15542397 PMID:17041890 PMID:21465523 PMID:25741868 PMID:28492532 More...
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NCBI chr 4:59,252,330...59,270,117
Ensembl chr 4:59,252,337...59,270,116
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BDP1 |
B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB |
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ISO |
ClinVar Annotator: match by term: BDP1-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 112 |
OMIM ClinVar |
PMID:24312468 PMID:25741868 PMID:26467025 |
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NCBI chr16:47,801,273...47,909,513
Ensembl chr16:47,801,315...47,908,851
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CEACAM16 |
CEA cell adhesion molecule 16, tectorial membrane component |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 113 |
OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29703829 PMID:30311386 PMID:33111345 More...
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NCBI chr 6:51,217,085...51,228,458
Ensembl chr 6:51,220,812...51,231,761
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GRAP |
GRB2 related adaptor protein |
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ISO |
ClinVar Annotator: match by term: Hearing loss, autosomal recessive 114 |
OMIM ClinVar |
PMID:25741868 PMID:30610177 |
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NCBI chr12:60,261,560...60,281,886
Ensembl chr12:60,260,981...60,281,884
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SPNS2 |
SPNS lysolipid transporter 2, sphingosine-1-phosphate |
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ISO |
ClinVar Annotator: match by term: Hearing loss, autosomal recessive 115 | ClinVar Annotator: match by term: SPNS2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:50,454,051...50,491,172
Ensembl chr12:50,454,063...50,491,164
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CLDN9 |
claudin 9 |
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ISO |
ClinVar Annotator: match by term: CLDN9-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 116 |
OMIM ClinVar |
PMID:25741868 PMID:30311386 PMID:31175426 PMID:34265170 PMID:35802133 PMID:36633841 More...
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NCBI chr 3:39,172,731...39,181,827
Ensembl chr 3:39,172,853...39,174,354
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CLRN2 |
clarin 2 |
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ISO |
ClinVar Annotator: match by term: CLRN2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 117 |
OMIM ClinVar |
PMID:25741868 PMID:33496845 PMID:38243601 |
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NCBI chr 8:12,551,855...12,564,512
Ensembl chr 8:12,551,892...12,564,379
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AFG2B |
AFG2 AAA ATPase homolog B |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 119 |
OMIM ClinVar |
PMID:25741868 PMID:26138355 PMID:28492532 PMID:34626583 |
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NCBI chr 1:126,314,573...126,335,193
Ensembl chr 1:126,313,402...126,335,475
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ATP2B2 |
ATPase plasma membrane Ca2+ transporting 2 |
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ISO |
ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12, modifier of |
OMIM ClinVar |
PMID:15829536 PMID:22047666 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532 PMID:29452611 More...
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NCBI chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128
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C14H10orf105 |
chromosome 14 C10orf105 homolog |
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ISO |
ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 |
ClinVar |
PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 PMID:16199547 PMID:16679490 PMID:17850630 PMID:18273900 PMID:18429043 PMID:19683999 PMID:20146813 PMID:21228398 PMID:21569298 PMID:21940737 PMID:22135276 PMID:22899989 PMID:24033266 PMID:24875298 PMID:25468891 PMID:25741868 PMID:26467025 PMID:27610647 PMID:28413019 PMID:28492532 PMID:28847902 PMID:30303587 PMID:31445392 PMID:31541171 PMID:33924653 PMID:34335733 PMID:35020051 PMID:36597107 More...
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NCBI chr14:74,630,827...74,639,180
Ensembl chr14:74,629,796...74,638,022
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CDH23 |
cadherin related 23 |
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ISO |
ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 |
OMIM ClinVar |
PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:12522556 PMID:12910270 PMID:15353998 PMID:15537665 PMID:15660226 PMID:15829536 PMID:16199547 PMID:16281288 PMID:16679490 PMID:16963483 PMID:17407589 PMID:17576681 PMID:17850630 PMID:18273900 PMID:18323324 PMID:18348277 PMID:18368581 PMID:18429043 PMID:18484607 PMID:19375528 PMID:19683999 PMID:19888295 PMID:20146813 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21078986 PMID:21174530 PMID:21228398 PMID:21436283 PMID:21569298 PMID:21738395 PMID:21917145 PMID:21940737 PMID:22135276 PMID:22443853 PMID:22607986 PMID:22899989 PMID:22995991 PMID:23208854 PMID:23451239 PMID:23591405 PMID:23757202 PMID:23804846 PMID:23967202 PMID:24006325 PMID:24033266 PMID:24082139 PMID:24164807 PMID:24416283 PMID:24444108 PMID:24498627 PMID:24618850 PMID:24767429 PMID:24875298 PMID:25231367 PMID:25262649 PMID:25279224 PMID:25333064 PMID:25356970 PMID:25373420 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25474345 PMID:25525159 PMID:25587757 PMID:25605338 PMID:25741868 PMID:25788563 PMID:25963016 PMID:26226137 PMID:26264712 PMID:26346818 PMID:26399936 PMID:26445815 PMID:26467025 PMID:26633542 PMID:26763877 PMID:26969326 PMID:27018795 PMID:27068579 PMID:27349180 PMID:27460420 PMID:27583405 PMID:27583663 PMID:27610647 PMID:27627659 PMID:27743452 PMID:27792758 PMID:27884173 PMID:28000701 PMID:28383030 PMID:28413019 PMID:28483220 PMID:28492532 PMID:28501645 PMID:28847902 PMID:28912962 PMID:29048421 PMID:29148562 PMID:29343940 PMID:29568747 PMID:29889784 PMID:29986705 PMID:30029624 PMID:30033219 PMID:30123251 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30367262 PMID:30459346 PMID:30622556 PMID:30718709 PMID:30733538 PMID:30828794 PMID:30872718 PMID:31054281 PMID:31152317 PMID:31445392 PMID:31541171 PMID:31546658 PMID:31816670 PMID:31850270 PMID:31872526 PMID:31980526 PMID:32238869 PMID:32467589 PMID:32707200 PMID:32747562 PMID:32842620 PMID:32860223 PMID:32991204 PMID:33576794 PMID:33724713 PMID:33924653 PMID:34265623 PMID:34335733 PMID:34416374 PMID:34426522 PMID:34824372 PMID:34906470 PMID:34906502 PMID:34948090 PMID:34997062 PMID:35020051 PMID:35062939 PMID:35186827 PMID:35248088 PMID:35440622 PMID:35580552 PMID:35802133 PMID:35982127 PMID:36460718 PMID:36597107 PMID:36633841 PMID:36672845 PMID:38927702 More...
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NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834
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GJB2 |
gap junction protein beta 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 12 |
ClinVar |
PMID:24367894 PMID:25741868 |
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NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
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PSAP |
prosaposin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 12 |
ClinVar |
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:28492532 |
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NCBI chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763
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VSIR |
V-set immunoregulatory receptor |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 12 |
ClinVar |
PMID:25741868 |
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NCBI chr14:74,667,081...74,693,347
Ensembl chr14:74,666,624...74,693,281
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G |
MINAR2 |
membrane integral NOTCH2 associated receptor 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 120 |
OMIM ClinVar |
PMID:35727972 |
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NCBI chr 2:132,413,265...132,428,786
Ensembl chr 2:132,416,040...132,428,922
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G |
OBSCN |
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 120 |
ClinVar |
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NCBI chr 2:51,317,538...51,534,246
Ensembl chr 2:51,285,488...51,534,236
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G |
GPR156 |
G protein-coupled receptor 156 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 121 |
OMIM ClinVar |
PMID:25741868 PMID:37814107 |
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NCBI chr13:139,974,430...140,074,176
Ensembl chr13:140,007,711...140,074,166
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G |
TMTC4 |
transmembrane O-mannosyltransferase targeting cadherins 4 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 122 |
OMIM ClinVar |
PMID:37943620 |
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NCBI chr11:69,361,219...69,442,769
Ensembl chr11:69,361,229...69,443,039
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G |
STX4 |
syntaxin 4 |
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ISO |
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OMIM |
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NCBI chr 3:17,422,266...17,431,377
Ensembl chr 3:17,416,842...17,431,053
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G |
PKHD1L1 |
PKHD1 like 1 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 124 |
ClinVar OMIM |
PMID:38459354 |
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NCBI chr 4:28,023,448...28,176,331
Ensembl chr 4:28,025,587...28,176,361
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GAS2 |
growth arrest specific 2 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 125 |
OMIM ClinVar |
PMID:33964205 |
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NCBI chr 2:36,712,758...36,885,436
Ensembl chr 2:36,711,612...36,885,620
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G |
GIPC3 |
GIPC PDZ domain containing family member 3 |
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ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95 | ClinVar Annotator: match by term: Deafness, autosomal recessive 15 | ClinVar Annotator: match by term: GIPC3-related condition |
OMIM ClinVar |
PMID:9286457 PMID:17690910 PMID:21326233 PMID:21660509 PMID:23510777 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 PMID:32682410 PMID:32747562 PMID:32864763 More...
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NCBI chr 2:75,082,048...75,090,145
Ensembl chr 2:75,083,362...75,089,756
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CATSPER2 |
cation channel sperm associated 2 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 |
ClinVar |
PMID:11687802 PMID:21681106 PMID:25741868 PMID:26011646 |
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NCBI chr 1:127,814,349...127,831,023
Ensembl chr 1:127,814,376...127,829,109
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CKMT1A |
creatine kinase, mitochondrial 1A |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:127,852,533...127,859,066
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FRMD5 |
FERM domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:127,317,660...127,653,112
Ensembl chr 1:127,317,701...127,650,665
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PDIA3 |
protein disulfide isomerase family A member 3 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:127,786,174...127,814,096
Ensembl chr 1:127,785,772...127,814,196
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PPIP5K1 |
diphosphoinositol pentakisphosphate kinase 1 |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:127,865,487...127,915,501
Ensembl chr 1:127,865,562...127,915,451
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STRC |
stereocilin |
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ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 | ClinVar Annotator: match by term: STRC-related condition |
OMIM ClinVar |
PMID:11687802 PMID:18414213 PMID:21078986 PMID:21681106 PMID:22147502 PMID:24033266 PMID:24963352 PMID:25157971 PMID:25741868 PMID:26011646 PMID:26467025 PMID:26746617 PMID:26969326 PMID:27057829 PMID:29196752 PMID:29425068 PMID:30311386 PMID:31552524 PMID:32203226 PMID:32705992 PMID:32860223 PMID:35802133 PMID:36633841 More...
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NCBI chr 1:127,830,759...127,852,392
Ensembl chr 1:127,835,622...127,852,339
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