|
G |
NIPBL |
NIPBL cohesin loading factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19763162 |
|
NCBI chr16:22,152,455...22,364,373
Ensembl chr16:22,152,469...22,363,821
|
|
G |
PRKRA |
protein activator of interferon induced protein kinase EIF2AK2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25554729 |
|
NCBI chr15:84,134,273...84,156,596
Ensembl chr15:84,133,687...84,156,508
|
|
G |
SRRM4 |
serine/arginine repetitive matrix 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17613114 |
|
NCBI chr14:33,653,542...33,818,859
Ensembl chr14:33,657,143...33,816,798
|
|
G |
TTPA |
alpha tocopherol transfer protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10896705 |
|
NCBI chr 4:70,960,580...70,980,883
Ensembl chr 4:70,961,465...70,980,876
|
|
|
G |
ACAT2 |
acetyl-CoA acetyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:7,600,616...7,612,861
Ensembl chr 1:7,598,735...7,612,866
|
|
G |
AGPAT4 |
1-acylglycerol-3-phosphate O-acyltransferase 4 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:6,761,734...6,883,555
Ensembl chr 1:6,772,417...6,883,551
|
|
G |
ATP2B2 |
ATPase plasma membrane Ca2+ transporting 2 |
|
ISO |
ClinVar Annotator: match by term: MEGDEL syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128
|
|
G |
DYNLT1 |
dynein light chain Tctex-type 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:8,556,083...8,562,865
Ensembl chr 1:8,556,059...8,563,676
|
|
G |
EZR |
ezrin |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:8,403,362...8,452,750
Ensembl chr 1:8,403,453...8,452,742
|
|
G |
FNDC1 |
fibronectin type III domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:8,007,320...8,106,875
Ensembl chr 1:8,007,321...8,081,817
|
|
G |
GTF2H5 |
general transcription factor IIH subunit 5 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:8,928,280...8,935,030
Ensembl chr 1:8,917,240...8,934,983
|
|
G |
IGF2R |
insulin like growth factor 2 receptor |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:7,369,485...7,472,480
Ensembl chr 1:7,368,103...7,472,548
|
|
G |
MAP3K4 |
mitogen-activated protein kinase kinase kinase 4 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:6,891,255...7,049,784
Ensembl chr 1:6,891,265...7,049,775
|
|
G |
MAS1 |
MAS1 proto-oncogene, G protein-coupled receptor |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:7,527,566...7,542,110
Ensembl chr 1:7,527,861...7,528,838
|
|
G |
MRPL18 |
mitochondrial ribosomal protein L18 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:7,581,763...7,590,037
Ensembl chr 1:7,581,764...7,590,031
|
|
G |
PLG |
plasminogen |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:7,062,399...7,109,521
Ensembl chr 1:7,061,192...7,110,555
|
|
G |
PNLDC1 |
PARN like ribonuclease domain containing exonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:7,560,084...7,580,062
Ensembl chr 1:7,559,745...7,579,197
|
|
G |
PRKN |
parkin RBR E3 ubiquitin protein ligase |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:5,698,508...6,731,132
Ensembl chr 1:5,465,312...6,730,872
|
|
G |
RSPH3 |
radial spoke head 3 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:8,243,177...8,265,816
Ensembl chr 1:8,244,040...8,265,659
|
|
G |
SERAC1 |
serine active site containing 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | ClinVar Annotator: match by term: MEGDEL syndrome |
OMIM ClinVar |
PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 PMID:23707711 PMID:24033266 PMID:24997715 PMID:25016221 PMID:25741868 PMID:25741916 PMID:26863999 PMID:27604308 PMID:28482397 PMID:28492532 PMID:28778788 PMID:28916646 PMID:29205472 PMID:29686941 PMID:31251474 PMID:32005694 PMID:32313153 PMID:33431980 PMID:33613893 More...
|
|
NCBI chr 1:8,935,081...9,002,774
Ensembl chr 1:8,935,091...9,002,770
|
|
G |
SLC22A1 |
solute carrier family 22 member 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:7,340,442...7,365,543
Ensembl chr 1:7,340,126...7,365,520
|
|
G |
SLC22A2 |
solute carrier family 22 member 2 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:7,289,278...7,323,418
Ensembl chr 1:7,289,831...7,323,146
|
|
G |
SLC22A3 |
solute carrier family 22 member 3 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:7,105,486...7,207,395
Ensembl chr 1:7,110,074...7,207,401
|
|
G |
SOD2 |
superoxide dismutase 2 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
|
|
G |
SYTL3 |
synaptotagmin like 3 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:8,452,822...8,546,637
Ensembl chr 1:8,453,283...8,546,530
|
|
G |
TAGAP |
T cell activation RhoGTPase activating protein |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:8,209,298...8,217,993
Ensembl chr 1:8,209,314...8,219,630
|
|
G |
TCP1 |
t-complex 1 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:7,590,140...7,600,709
Ensembl chr 1:7,590,140...7,601,795
|
|
G |
TMEM181 |
transmembrane protein 181 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:8,564,752...8,642,358
Ensembl chr 1:8,562,844...8,635,462
|
|
G |
TULP4 |
TUB like protein 4 |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:8,650,811...8,891,596
|
|
G |
WTAP |
WT1 associated protein |
|
ISO |
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
ClinVar |
PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 |
|
NCBI chr 1:7,622,544...7,651,732
Ensembl chr 1:7,622,547...7,651,961
|
|
|
G |
TBX22 |
T-box transcription factor 22 |
|
ISO |
ClinVar Annotator: match by term: Abruzzo-Erickson syndrome |
OMIM ClinVar |
PMID:839509 PMID:22784330 PMID:25741868 |
|
NCBI chr X:63,837,576...63,845,704
Ensembl chr X:63,837,284...63,846,483
|
|
|
G |
MT-CO1 |
mitochondrially encoded cytochrome c oxidase I |
|
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...
|
|
NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055
|
|
G |
MT-ND1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
|
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: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...
|
|
NCBI chr MT:3,922...4,876
Ensembl chr MT:3,922...4,876
|
|
G |
TRMU |
tRNA mitochondrial 2-thiouridylase |
|
ISO |
ClinVar Annotator: match by term: Aminoglycoside-induced deafness | ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of |
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:33365252 PMID:33485800 PMID:36305855 More...
|
|
NCBI chr 5:3,208,122...3,224,382
Ensembl chr 5:3,208,118...3,224,366
|
|
|
G |
PITX2 |
paired like homeodomain 2 |
|
ISO |
DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) |
RGD |
PMID:17701896 |
RGD:12910562 |
NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,757...111,723,298
|
|
G |
PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE | ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision |
OMIM ClinVar |
PMID:1664177 PMID:6243137 PMID:7593598 PMID:8253776 PMID:8498830 PMID:17701896 PMID:17701900 PMID:19161981 PMID:20301731 PMID:22246954 PMID:24033266 PMID:24528855 PMID:25741868 PMID:26089585 PMID:28492532 PMID:28967191 PMID:31906484 PMID:32781272 More...
|
|
NCBI chr X:88,074,861...88,101,925
Ensembl chr X:88,074,965...88,101,910
|
|
|
G |
HOXA1 |
homeobox A1 |
|
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 |
|
NCBI chr18:45,477,561...45,480,306
Ensembl chr18:45,477,461...45,480,152
|
|
G |
HOXA2 |
homeobox A2 |
|
ISO |
ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Navajo brainstem syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr18:45,470,079...45,473,345
Ensembl chr18:45,470,862...45,473,876
|
|
|
G |
AIFM1 |
apoptosis inducing factor mitochondria associated 1 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
|
|
NCBI chr X:106,676,596...106,708,290
Ensembl chr X:106,670,520...106,708,317
|
|
G |
CACNA1A |
calcium voltage-gated channel subunit alpha1 A |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
|
|
NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182
|
|
G |
CDH2 |
cadherin 2 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:112,396,713...112,629,073
Ensembl chr 6:112,396,721...112,628,432
|
|
G |
FDXR |
ferredoxin reductase |
|
ISO |
ClinVar Annotator: match by term: Auditory dys-synchrony |
ClinVar |
PMID:25741868 PMID:28965846 PMID:29040572 |
|
NCBI chr12:6,372,224...6,382,769
Ensembl chr12:6,372,009...6,382,769
|
|
G |
KIF5A |
kinesin family member 5A |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
|
|
NCBI chr 5:22,813,617...22,851,976
Ensembl chr 5:22,816,854...22,851,973
|
|
G |
MFN2 |
mitofusin 2 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
|
|
NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438
|
|
G |
MYO7A |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
|
|
NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
|
|
G |
NEFL |
neurofilament light chain |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
|
|
NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112
|
|
G |
NOTCH3 |
notch receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Auditory dys-synchrony | ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344
|
|
G |
OPA1 |
OPA1 mitochondrial dynamin like GTPase |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
|
|
NCBI chr13:130,624,771...130,718,345
Ensembl chr13:130,624,796...130,719,083
|
|
G |
OTOF |
otoferlin |
|
ISO |
ClinVar Annotator: match by term: Auditory dys-synchrony | ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:18381613 PMID:19250381 PMID:22575033 PMID:26818607 PMID:28492532 |
|
NCBI chr 3:112,478,188...112,581,105
Ensembl chr 3:112,478,027...112,581,104
|
|
G |
RAB33A |
RAB33A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
|
|
NCBI chr X:106,708,402...106,723,803
Ensembl chr X:106,712,398...106,723,404
|
|
G |
SLC52A3 |
solute carrier family 52 member 3 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32579787 |
|
NCBI chr17:34,459,291...34,481,022
Ensembl chr17:34,459,359...34,481,026
|
|
G |
TIMM8A |
translocase of inner mitochondrial membrane 8A |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:30634948 |
|
NCBI chr X:82,978,128...82,981,038
Ensembl chr X:82,974,270...82,980,769
|
|
G |
TP63 |
tumor protein p63 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
|
|
NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068
|
|
G |
TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
|
|
NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578
|
|
G |
TWNK |
twinkle mtDNA helicase |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
PMID:30818899 |
|
NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792
|
|
G |
WFS1 |
wolframin ER transmembrane glycoprotein |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy |
ClinVar |
|
|
NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273
|
|
|
G |
FDXR |
ferredoxin reductase |
|
ISO |
ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY | ClinVar Annotator: match by term: FDXR-related condition |
OMIM ClinVar |
PMID:6766943 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28965846 PMID:29040572 PMID:30250212 More...
|
|
NCBI chr12:6,372,224...6,382,769
Ensembl chr12:6,372,009...6,382,769
|
|
|
G |
DIAPH3 |
diaphanous related formin 3 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 | ClinVar Annotator: match by term: DIAPH3-related condition |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:20624953 PMID:21220648 PMID:25741868 PMID:26467025 PMID:27658576 PMID:28492532 More...
|
|
NCBI chr11:32,492,735...32,994,854
Ensembl chr11:32,492,740...32,994,844
|
|
|
G |
ATP11A |
ATPase phospholipid transporting 11A |
|
ISO |
|
OMIM |
|
|
NCBI chr11:78,292,734...78,402,108
Ensembl chr11:78,293,469...78,402,083
|
|
|
G |
TMEM43 |
transmembrane protein 43 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3 |
OMIM ClinVar |
PMID:18230648 PMID:20435227 PMID:21391237 PMID:21636032 PMID:23161701 PMID:23178689 PMID:23299917 PMID:23555315 PMID:23812740 PMID:23861362 PMID:24033266 PMID:25343256 PMID:25351510 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...
|
|
NCBI chr13:70,397,069...70,417,213
Ensembl chr13:70,393,227...70,417,168
|
|
|
G |
DNMT1 |
DNA methyltransferase 1 |
|
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...
|
|
NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844
|
|
|
G |
ATP6V1B2 |
ATPase H+ transporting V1 subunit B2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant |
OMIM ClinVar |
PMID:24913193 PMID:25741868 PMID:28396750 PMID:31581539 PMID:31655144 |
|
NCBI chr14:4,289,257...4,318,587
Ensembl chr14:4,289,339...4,318,584
|
|
|
G |
DSPP |
dentin sialophosphoprotein |
|
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...
|
|
NCBI chr 8:131,318,187...131,444,274
Ensembl chr 8:131,319,983...131,472,761
|
|
|
G |
MYH14 |
myosin heavy chain 14 |
|
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:27393652 PMID:28166811 PMID:28221712 PMID:28492532 PMID:30311386 PMID:30828794 PMID:31231018 More...
|
|
NCBI chr 6:55,097,851...55,200,754
Ensembl chr 6:55,113,521...55,200,750
|
|
|
G |
GJB2 |
gap junction protein beta 2 |
|
ISO |
ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant |
OMIM ClinVar |
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 PMID:2956987 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:9856479 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11918723 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12064630 PMID:12072059 PMID:12081719 PMID:12111646 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12548749 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12673800 PMID:12684873 PMID:12746422 PMID:12752120 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12872268 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14643477 PMID:14691997 PMID:14694360 PMID:14700667 PMID:14722929 PMID:14735592 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15617546 PMID:15617550 PMID:15633193 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15769851 PMID:15790391 PMID:15832357 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16154643 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16885744 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17330861 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17428836 PMID:17431919 PMID:17444514 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17576681 PMID:17581693 PMID:17660464 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18024254 PMID:18196482 PMID:18294064 PMID:18324688 PMID:18414213 PMID:18451998 PMID:18560174 PMID:18570691 PMID:18668259 PMID:18684989 PMID:18776652 PMID:18804553 PMID:18843290 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19465004 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19719946 PMID:19723508 PMID:19775242 PMID:19814620 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20101161 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20412116 PMID:20441744 PMID:20497192 PMID:20553101 PMID:20563649 PMID:20593197 PMID:20607074 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 PMID:20956747 PMID:20981092 PMID:21094084 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21292415 PMID:21298213 PMID:21298644 PMID:21366436 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21738759 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21836520 PMID:21844220 PMID:21910243 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22031297 PMID:22037723 PMID:22103400 PMID:22106692 PMID:22281373 PMID:22384008 PMID:22429511 PMID:22450542 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22574200 PMID:22592158 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23039283 PMID:23073770 PMID:23141775 PMID:23328711 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23695287 PMID:23757202 PMID:23797420 PMID:23804846 PMID:23826813 PMID:23873582 PMID:23900770 PMID:23924173 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 PMID:24507663 PMID:24529908 PMID:24551843 PMID:24611097 PMID:24645897 PMID:24654934 PMID:24737404 PMID:24762805 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25365227 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25575739 PMID:25587757 PMID:25625422 PMID:25628337 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25741895 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26482070 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26763877 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27087580 PMID:27141831 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 PMID:27398341 PMID:27481527 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27761313 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884957 PMID:28008688 PMID:28012523 PMID:28222800 PMID:28271504 PMID:28383030 PMID:28428247 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28651654 PMID:28704896 PMID:28900111 PMID:29062245 PMID:29106882 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29625052 PMID:29773520 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30086704 PMID:30094485 PMID:30146550 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30466042 PMID:30589569 PMID:30693673 PMID:30828346 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31195736 PMID:31346875 PMID:31370293 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31827275 PMID:31980526 PMID:31992338 PMID:32090102 PMID:32258544 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33187236 PMID:33333757 PMID:33524517 PMID:33597575 PMID:33614373 PMID:33928925 PMID:34008892 PMID:34062854 PMID:34335733 PMID:34440441 PMID:34515852 PMID:34652575 PMID:35016843 PMID:35396755 PMID:35864128 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 More...
|
|
NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
|
|
|
G |
ATOH1 |
atonal bHLH transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Dominant progressive sensorineural hearing loss |
ClinVar |
PMID:25741868 PMID:33111345 |
|
NCBI chr 8:125,768,232...125,770,619
Ensembl chr 8:125,768,286...125,770,545
|
|
G |
ATP2B2 |
ATPase plasma membrane Ca2+ transporting 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA |
ClinVar |
|
|
NCBI chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128
|
|
G |
DIABLO |
diablo IAP-binding mitochondrial protein |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA |
ClinVar |
PMID:25741868 |
|
NCBI chr14:30,498,885...30,519,846
Ensembl chr14:30,498,900...30,520,070
|
|
G |
GREB1L |
GREB1 like retinoic acid receptor coactivator |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA |
ClinVar |
PMID:25741868 PMID:32585897 |
|
NCBI chr 6:106,545,882...106,693,711
Ensembl chr 6:106,419,943...106,691,625
|
|
G |
MYO6 |
myosin VI |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:89,992,860...90,137,767
Ensembl chr 1:89,992,866...90,137,734
|
|
G |
PDE1C |
phosphodiesterase 1C |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA |
ClinVar |
PMID:29860631 |
|
NCBI chr18:40,818,316...41,410,555
Ensembl chr18:40,820,644...41,409,087
|
|
G |
PLS1 |
plastin 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA | ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing impairment |
ClinVar |
PMID:30872814 PMID:31397523 |
|
NCBI chr13:83,307,692...83,434,133
Ensembl chr13:83,308,007...83,434,128
|
|
G |
SIX1 |
SIX homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:189,620,430...189,624,652
Ensembl chr 1:189,619,855...189,624,651
|
|
|
G |
DIAPH1 |
diaphanous related formin 1 |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA | ClinVar Annotator: match by term: Deafness, autosomal dominant 1 | ClinVar Annotator: match by term: KONIGSMARK SYNDROME |
OMIM ClinVar |
PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 PMID:23804846 PMID:24033266 PMID:24781755 PMID:25342930 PMID:25558065 PMID:25741868 PMID:25741916 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...
|
|
NCBI chr 2:143,158,691...143,271,110
Ensembl chr 2:143,158,585...143,271,147
|
|
G |
ECSCR |
endothelial cell surface expressed chemotaxis and apoptosis regulator |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:141,343,818...141,352,618
Ensembl chr 2:141,343,803...141,352,603
|
|
G |
EIF4EBP3 |
eukaryotic translation initiation factor 4E binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:142,303,881...142,305,719
Ensembl chr 2:142,303,859...142,305,716
|
|
|
G |
EYA4 |
EYA transcriptional coactivator and phosphatase 4 |
|
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:27068579 PMID:28492532 PMID:28798025 PMID:29030401 PMID:30165862 PMID:30828794 PMID:32107406 PMID:32277154 PMID:33745059 PMID:35802133 PMID:36633841 More...
|
|
NCBI chr 1:30,260,784...30,575,593
Ensembl chr 1:30,261,917...30,533,604
|
|
|
G |
MYO7A |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 11 |
OMIM ClinVar |
PMID:3130723 PMID:8900236 PMID:9002678 PMID:9354784 PMID:9382091 PMID:9536098 PMID:9718356 PMID:10094549 PMID:10425080 PMID:10447383 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:25741868 PMID:25741916 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:27766948 PMID:27911912 PMID:27957503 PMID:28000701 PMID:28041643 PMID:28472130 PMID:28492532 PMID:28802369 PMID:28944237 PMID:29048421 PMID:29196752 PMID:29276601 PMID:29490346 PMID:29625443 PMID:29692870 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30337596 PMID:30459346 PMID:30718709 PMID:30828346 PMID:30881389 PMID:31456290 PMID:31479088 PMID:31964843 PMID:32097363 PMID:32681043 PMID:33105617 PMID:33111345 PMID:33187236 PMID:33363762 PMID:33576163 PMID:33576794 PMID:33623043 PMID:33724713 PMID:34416374 PMID:34426522 PMID:34652575 PMID:34837038 PMID:34948090 PMID:35453549 PMID:35640668 PMID:35802133 PMID:36147510 PMID:36633841 PMID:36672771 More...
|
|
NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
|
|
|
G |
TECTA |
tectorin alpha |
|
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:10196713 PMID:10987647 PMID:11087000 PMID:11333869 PMID:12021773 PMID:12162770 PMID:12746400 PMID:16199547 PMID:16718611 PMID:17431902 PMID:17576681 PMID:17661817 PMID:18381613 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:25741868 PMID:25741916 PMID:26467025 PMID:27068579 PMID:27627659 PMID:27848944 PMID:28000701 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:34795337 More...
|
|
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
|
|
|
G |
COL11A2 |
collagen type XI alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 13 |
OMIM ClinVar |
PMID:10581026 PMID:10677296 PMID:15372529 PMID:15558753 PMID:21204229 PMID:23967202 PMID:24033266 PMID:25633957 PMID:25741868 PMID:26969326 PMID:28492532 PMID:33105617 PMID:35802133 PMID:36633841 More...
|
|
NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,497...25,234,888
|
|
|
G |
POU4F3 |
POU class 4 homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 15 | ClinVar Annotator: match by term: POU4F3-related condition |
OMIM ClinVar |
PMID:9506947 PMID:14585957 PMID:18228599 PMID:19462854 PMID:20434433 PMID:24033266 PMID:24260153 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29850532 PMID:30311386 PMID:32684921 PMID:32747562 PMID:34250087 More...
|
|
NCBI chr 2:147,693,013...147,694,345
Ensembl chr 2:147,692,751...147,695,346
|
|
|
G |
STRC |
stereocilin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 16 |
ClinVar |
PMID:22147502 PMID:24033266 PMID:25741868 PMID:26969326 |
|
NCBI chr 1:127,830,759...127,852,392
Ensembl chr 1:127,835,622...127,852,339
|
|
|
G |
MYH9 |
myosin heavy chain 9 |
|
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 | ClinVar Annotator: match by term: MYH9-related condition |
OMIM ClinVar |
PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:9536098 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:17576681 PMID:17655694 PMID:18059020 PMID:18330899 PMID:18676005 PMID:19557653 PMID:20002731 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:25949529 PMID:26056797 PMID:26226608 PMID:26346198 PMID:26387855 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28059092 PMID:28492532 PMID:28780565 PMID:29090586 PMID:29532554 PMID:29782633 PMID:29907799 PMID:30245029 PMID:30311386 PMID:30471777 PMID:30720677 PMID:30916803 PMID:31064749 PMID:31562665 PMID:32100410 PMID:32545517 PMID:32581362 PMID:32604935 PMID:32757236 PMID:33532864 PMID:33710140 PMID:34355501 PMID:34619682 PMID:36100708 More...
|
|
NCBI chr 5:11,365,603...11,456,475
Ensembl chr 5:11,360,660...11,456,472
|
|
|
G |
ACTG1 |
actin gamma 1 |
|
ISO |
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:22366783 PMID:23506231 PMID:24033266 PMID:25052316 PMID:25741868 PMID:25741909 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:31231230 PMID:32028042 PMID:32341388 PMID:33584783 PMID:33604570 PMID:35802133 PMID:36633841 More...
|
|
NCBI chr12:1,320,355...1,323,219
Ensembl chr12:1,313,641...1,323,217
|
|
|
G |
RIPOR2 |
RHO family interacting cell polarization regulator 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 21 |
OMIM ClinVar |
PMID:10764236 PMID:25741868 PMID:28492532 PMID:32631815 |
|
NCBI chr 7:19,609,358...19,842,345
Ensembl chr 7:19,609,358...19,838,093
|
|
|
G |
MYO6 |
myosin VI |
|
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:25080041 PMID:25741868 PMID:25741877 PMID:25999546 PMID:26445815 PMID:26467025 PMID:26969326 PMID:28492532 PMID:30311386 PMID:30582396 PMID:31589614 PMID:32143290 PMID:32747562 PMID:33279834 PMID:33297549 PMID:33724713 PMID:35802133 PMID:36633841 More...
|
|
NCBI chr 1:89,992,860...90,137,767
Ensembl chr 1:89,992,866...90,137,734
|
|
|
G |
SIX1 |
SIX homeobox 1 |
|
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...
|
|
NCBI chr 1:189,620,430...189,624,652
Ensembl chr 1:189,619,855...189,624,651
|
|
|
G |
SLC17A8 |
solute carrier family 17 member 8 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 25 |
OMIM ClinVar |
PMID:11115382 PMID:18674745 PMID:23967202 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26797701 PMID:28492532 PMID:33229591 More...
|
|
NCBI chr 5:83,741,641...83,809,472
Ensembl chr 5:83,741,715...83,800,808
|
|
G |
TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
|
ISO |
OMIM:605583 |
MouseDO |
|
|
NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578
|
|
|
G |
LOC100621006 |
RE1-silencing transcription factor-like |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 27 |
ClinVar OMIM |
PMID:25741868 PMID:28492532 PMID:29961578 PMID:34828371 |
|
NCBI chr 8:56,048,280...56,215,011
Ensembl chr 8:56,035,150...56,215,013
|
|
|
G |
GRHL2 |
grainyhead like transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 28 |
OMIM ClinVar |
PMID:12393799 PMID:23813623 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 4:35,368,788...35,565,394
Ensembl chr 4:35,371,136...35,564,919
|
|
|
G |
KCNQ4 |
potassium voltage-gated channel subfamily Q member 4 |
|
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: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:34622280 More...
|
|
NCBI chr 6:170,346,135...170,401,534
Ensembl chr 6:170,346,141...170,401,718
|
|
|
G |
GJB3 |
gap junction protein beta 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 2b |
ClinVar |
PMID:9843210 PMID:16077902 PMID:19050930 PMID:21204020 PMID:23638949 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29106878 PMID:31564438 PMID:32645618 More...
|
|
NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,542
|
|
|
G |
ATP11A |
ATPase phospholipid transporting 11A |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 33 |
ClinVar |
PMID:25741868 PMID:30311386 PMID:35278131 |
|
NCBI chr11:78,292,734...78,402,108
Ensembl chr11:78,293,469...78,402,083
|
|
|
G |
NLRP3 |
NLR family pyrin domain containing 3 |
|
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...
|
|
NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228
|
|
|
G |
TMC1 |
transmembrane channel like 1 |
|
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:25388789 PMID:25741868 PMID:25741915 PMID:26011067 PMID:26467025 PMID:28492532 PMID:28501645 PMID:29533536 PMID:30303587 PMID:30896630 PMID:31028865 PMID:31541171 PMID:31854501 PMID:32747562 PMID:33095980 PMID:33168709 PMID:33524517 PMID:33724713 PMID:34523024 More...
|
|
NCBI chr 1:225,714,601...226,111,045
Ensembl chr 1:225,929,109...226,109,469
|
|
G |
USH2A |
usherin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 36 |
ClinVar |
|
|
NCBI chr10:5,825,591...6,662,733
|
|
|
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...
|
|
NCBI chr 4:115,638,381...115,841,679
Ensembl chr 4:115,634,172...115,840,708
|
|
|
G |
GJB2 |
gap junction protein beta 2 |
|
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: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: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:25741895 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: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: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:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31827275 PMID:31911633 PMID:31980526 PMID:31992338 PMID:32067424 PMID:32090102 PMID:32258544 PMID:32355288 PMID:32455934 PMID:32645618 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33187236 PMID:33333757 PMID:33524517 PMID:33597575 PMID:33614373 PMID:33928925 PMID:34062854 PMID:34276761 PMID:34335733 PMID:34403091 PMID:34440441 PMID:34515852 PMID:34652575 PMID:35016843 PMID:35182233 PMID:35301649 PMID:35396755 PMID:35864128 PMID:36048236 PMID:36788145 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 More...
|
|
NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
|
|
G |
GJB4 |
gap junction protein beta 4 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3a |
ClinVar |
PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532 |
|
NCBI chr 6:91,004,794...91,008,231
Ensembl chr 6:91,007,200...91,008,000
|
|
|
G |
CRYL1 |
crystallin lambda 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:27480936 PMID:28492532 |
|
NCBI chr11:845,471...925,849
Ensembl chr11:845,475...931,648
|
|
G |
GJA3 |
gap junction protein alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
|
NCBI chr11:750,658...751,889
Ensembl chr11:750,658...751,800
|
|
G |
GJB2 |
gap junction protein beta 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
|
NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
|
|
G |
GJB6 |
gap junction protein beta 6 |
|
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:30620052 PMID:31015822 PMID:31589614 PMID:35062939 More...
|
|
NCBI chr11:793,276...800,109
Ensembl chr11:793,280...800,046
|
|
G |
IFT88 |
intraflagellar transport 88 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
|
NCBI chr11:943,444...1,025,617
Ensembl chr11:943,469...1,025,613
|
|
G |
IL17D |
interleukin 17D |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
|
NCBI chr11:1,029,219...1,066,086
Ensembl chr11:1,029,109...1,066,085
|
|
G |
XPO4 |
exportin 4 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
|
NCBI chr11:1,104,270...1,208,144
Ensembl chr11:1,105,014...1,208,116
|
|
G |
XPO4 |
exportin 4 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b |
ClinVar |
PMID:28492532 |
|
NCBI chr11:1,054,816...1,095,118
Ensembl chr11:1,067,061...1,082,591
|
|
|
G |
CRYM |
crystallin mu |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 40 |
OMIM ClinVar |
PMID:12471561 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:24,815,010...24,835,837
Ensembl chr 3:24,815,010...24,835,836
|
|
|
G |
P2RX2 |
purinergic receptor P2X 2 |
|
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...
|
|
NCBI chr14:22,854,828...22,858,574
Ensembl chr14:22,854,828...22,858,386
|
|
|
G |
CCDC50 |
coiled-coil domain containing 50 |
|
ISO |
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...
|
|
NCBI chr13:128,619,223...128,690,964
Ensembl chr13:128,619,230...128,690,649
|
|
|
G |
MYO1A |
myosin IA |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 48 |
ClinVar |
PMID:12736868 PMID:24033266 PMID:24616153 PMID:25741868 |
|
NCBI chr 5:22,338,024...22,363,528
Ensembl chr 5:22,338,029...22,363,568
|
|
|
G |
CEACAM16 |
CEA cell adhesion molecule 16, tectorial membrane component |
|
ISO |
OMIM:600652 |
MouseDO |
|
|
NCBI chr 6:51,217,085...51,228,458
Ensembl chr 6:51,220,812...51,231,761
|
|
G |
MYH14 |
myosin heavy chain 14 |
|
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:27393652 PMID:28166811 PMID:28221712 PMID:28492532 PMID:30311386 PMID:30828794 PMID:31231018 More...
|
|
NCBI chr 6:55,097,851...55,200,754
Ensembl chr 6:55,113,521...55,200,750
|
|
|
G |
CEACAM16 |
CEA cell adhesion molecule 16, tectorial membrane component |
|
ISO |
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...
|
|
NCBI chr 6:51,217,085...51,228,458
Ensembl chr 6:51,220,812...51,231,761
|
|
|
G |
GSDME |
gasdermin E |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 5 |
OMIM ClinVar |
PMID:9536098 PMID:14676472 PMID:15173223 PMID:17576681 PMID:17868390 PMID:24033266 PMID:24164807 PMID:25741868 PMID:28492532 PMID:29266521 PMID:29849037 PMID:30311386 PMID:34906502 PMID:35114279 More...
|
|
NCBI chr18:47,524,637...47,583,748
Ensembl chr18:47,526,797...47,583,731
|
|
|
G |
MIR96 |
microRNA mir-96 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 50 |
OMIM ClinVar |
PMID:14757864 PMID:19363479 |
|
NCBI chr18:18,982,506...18,982,590
Ensembl chr18:18,982,506...18,982,590
|
|
|
G |
TJP2 |
tight junction protein 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 51 |
ClinVar |
PMID:20602916 |
|
NCBI chr 1:222,474,518...222,612,989
Ensembl chr 1:222,474,639...222,612,983
|
|
|
G |
PAPPA |
pappalysin 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 56 |
ClinVar |
PMID:21681106 PMID:23936043 |
|
NCBI chr 1:256,544,496...256,784,813
Ensembl chr 1:256,544,928...256,780,760
|
|
G |
TNC |
tenascin C |
|
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...
|
|
NCBI chr 1:255,533,235...255,630,381
Ensembl chr 1:255,533,238...255,630,376
|
|
G |
TNFSF8 |
TNF superfamily member 8 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 56 |
ClinVar |
PMID:21681106 PMID:23936043 |
|
NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073
|
|
|
G |
WFS1 |
wolframin ER transmembrane glycoprotein |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38 |
OMIM ClinVar |
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: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: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:25262649 PMID:25388789 PMID:25392243 PMID:25497598 PMID:25714468 PMID:25741868 PMID:25842391 PMID:25895475 PMID:26025012 PMID:26064370 PMID:26284228 PMID:26346818 PMID:26435059 PMID:26467025 PMID:26875006 PMID:26969326 PMID: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:29563951 PMID:29632382 PMID:29988211 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30773290 PMID:31264968 PMID:31313226 PMID:31363008 PMID:31521625 PMID:31567480 PMID:31600780 PMID:31765440 PMID:31980526 PMID:32350710 PMID:32567228 PMID:32883240 PMID:33046911 PMID:33841295 PMID:33879153 PMID:33980734 PMID:34356170 PMID:34445196 PMID:34556497 PMID:34737607 PMID:34746052 PMID:34803393 PMID:35206658 PMID:35452662 PMID:35469785 PMID:35472603 PMID:35602877 PMID:36208030 PMID:36597107 PMID:36729443 More...
|
|
NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273
|
|
|
G |
B3GNT4 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 64 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr14:30,520,075...30,524,275
Ensembl chr14:30,520,077...30,523,060
|
|
G |
DIABLO |
diablo IAP-binding mitochondrial protein |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 64 |
OMIM ClinVar |
PMID:21722859 PMID:25741868 PMID:28492532 |
|
NCBI chr14:30,498,885...30,519,846
Ensembl chr14:30,498,900...30,520,070
|
|
|
G |
CCNF |
cyclin F |
|
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:29358611 More...
|
|
NCBI chr 3:39,585,597...39,603,088
Ensembl chr 3:39,585,607...39,603,079
|
|
G |
TBC1D24 |
TBC1 domain family member 24 |
|
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:29100083 PMID:29358611 PMID:30108545 PMID:30311386 PMID:30335140 PMID:30680869 PMID:31112829 PMID:31216405 PMID:31257402 PMID:31618474 PMID:31780880 PMID:32004315 PMID:33281559 PMID:33619735 PMID:33986365 More...
|
|
NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277
|
|
|
G |
CD164 |
CD164 molecule |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 66 |
OMIM ClinVar |
PMID:25741868 PMID:26197441 |
|
NCBI chr 1:75,441,568...75,458,140
Ensembl chr 1:75,441,575...75,458,145
|
|
|
G |
OSBPL2 |
oxysterol binding protein like 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 67 |
OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:25759012 PMID:28492532 |
|
NCBI chr17:61,643,263...61,683,178
Ensembl chr17:61,643,377...61,685,819
|
|
|
G |
HOMER2 |
homer scaffold protein 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 68 |
OMIM ClinVar |
PMID:25741868 PMID:25816005 PMID:30047143 |
|
NCBI chr 7:52,001,253...52,104,426
Ensembl chr 7:52,001,579...52,096,828
|
|
|
G |
KITLG |
KIT ligand |
|
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 |
|
NCBI chr 5:94,016,992...94,110,219
Ensembl chr 5:94,017,387...94,110,214
|
|
|
G |
LMX1A |
LIM homeobox transcription factor 1 alpha |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 7 |
OMIM ClinVar |
PMID:25741868 PMID:29754270 PMID:32840933 PMID:35711095 PMID:36140227 |
|
NCBI chr 4:85,403,287...85,570,738
Ensembl chr 4:85,406,223...85,571,443
|
|
|
G |
MCM2 |
minichromosome maintenance complex component 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 70 |
OMIM ClinVar |
PMID:25741868 PMID:26196677 PMID:28492532 |
|
NCBI chr13:72,630,378...72,651,270
Ensembl chr13:72,630,380...72,657,786
|
|
|
G |
DMXL2 |
Dmx like 2 |
|
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...
|
|
NCBI chr 1:120,138,249...120,298,603
Ensembl chr 1:120,138,336...120,298,586
|
|
|
G |
SLC44A4 |
solute carrier family 44 member 4 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 72 |
OMIM ClinVar |
PMID:25741868 PMID:28013291 PMID:28492532 |
|
NCBI chr 7:23,958,935...23,977,466
Ensembl chr 7:23,958,942...23,977,482
|
|
|
G |
PTPRQ |
protein tyrosine phosphatase receptor type Q |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 73 | ClinVar Annotator: match by term: Deafness, autosomal dominant 73 |
OMIM ClinVar |
PMID:25741868 PMID:26467025 PMID:29309402 |
|
NCBI chr 5:100,787,025...101,081,145
Ensembl chr 5:100,787,027...101,033,334
|
|
|
G |
PDE1C |
phosphodiesterase 1C |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 74 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29860631 |
|
NCBI chr18:40,818,316...41,410,555
Ensembl chr18:40,820,644...41,409,087
|
|
|
G |
TRRAP |
transformation/transcription domain associated protein |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 75 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31231791 |
|
NCBI chr 3:5,903,205...6,029,343
Ensembl chr 3:5,909,022...6,029,333
|
|
|
G |
PLS1 |
plastin 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 76 | ClinVar Annotator: match by term: PLS1-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30872814 PMID:31397523 PMID:31432506 |
|
NCBI chr13:83,307,692...83,434,133
Ensembl chr13:83,308,007...83,434,128
|
|
|
G |
ABCC1 |
ATP binding cassette subfamily C member 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 77 |
OMIM ClinVar |
PMID:31273342 |
|
NCBI chr 3:28,360,868...28,472,940
Ensembl chr 3:28,360,873...28,473,456
|
|
|
G |
SLC12A2 |
solute carrier family 12 member 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 78 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:32294086 PMID:32658972 |
|
NCBI chr 2:131,016,430...131,109,307
Ensembl chr 2:131,016,418...131,109,299
|
|
|
G |
SCD5 |
stearoyl-CoA desaturase 5 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 79 |
OMIM ClinVar |
PMID:31972369 |
|
NCBI chr 8:135,507,346...135,634,031
Ensembl chr 8:135,507,296...135,634,021
|
|
|
G |
GREB1L |
GREB1 like retinoic acid receptor coactivator |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 80 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29955957 PMID:32585897 |
|
NCBI chr 6:106,545,882...106,693,711
Ensembl chr 6:106,419,943...106,691,625
|
|
|
G |
ELMOD3 |
ELMO domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 81 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29713870 |
|
NCBI chr 3:59,369,816...59,401,193
Ensembl chr 3:59,369,820...59,401,151
|
|
|
G |
ATP2B2 |
ATPase plasma membrane Ca2+ transporting 2 |
|
ISO |
ClinVar Annotator: match by term: ATP2B2-related Progressive hearing impairment | ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal dominant 82 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30535804 |
|
NCBI chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128
|
|
|
G |
MAP1B |
microtubule associated protein 1B |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 83 |
OMIM ClinVar |
PMID:25741868 PMID:33268592 |
|
NCBI chr16:48,403,338...48,501,453
Ensembl chr16:48,403,568...48,498,885
|
|
|
G |
ATP11A |
ATPase phospholipid transporting 11A |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 84 |
ClinVar OMIM |
PMID:25741868 PMID:30311386 PMID:35278131 |
|
NCBI chr11:78,292,734...78,402,108
Ensembl chr11:78,293,469...78,402,083
|
|
|
G |
USP48 |
ubiquitin specific peptidase 48 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 85 |
OMIM ClinVar |
PMID:25741868 PMID:34059922 |
|
NCBI chr 6:79,744,928...79,810,241
Ensembl chr 6:79,744,932...79,810,220
|
|
|
G |
THOC1 |
THO complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 86 |
ClinVar OMIM |
PMID:32776944 |
|
NCBI chr 6:106,039,262...106,088,125
Ensembl chr 6:106,040,042...106,088,021
|
|
|
G |
PI4KB |
phosphatidylinositol 4-kinase beta |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 87 |
ClinVar OMIM |
PMID:33358777 |
|
NCBI chr 4:97,918,234...97,949,929
Ensembl chr 4:97,918,245...97,949,931
|
|
|
G |
EPHA10 |
EPH receptor A10 |
|
ISO |
|
OMIM |
|
|
NCBI chr 6:93,764,732...93,804,069
Ensembl chr 6:93,765,128...93,803,894
|
|
|
G |
ATOH1 |
atonal bHLH transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 89 |
ClinVar OMIM |
PMID:25741868 PMID:33111345 |
|
NCBI chr 8:125,768,232...125,770,619
Ensembl chr 8:125,768,286...125,770,545
|
|
|
G |
COCH |
cochlin |
|
ISO |
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:16151338 PMID:16151339 PMID:16261627 PMID:16481359 PMID:17368553 PMID:18312449 PMID:18697796 PMID:19161137 PMID:20228067 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 More...
|
|
NCBI chr 7:68,580,124...68,595,142
Ensembl chr 7:68,576,153...68,594,077
|
|
|
G |
MYO3A |
myosin IIIA |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal dominant 90 |
OMIM ClinVar |
PMID:25741868 PMID:29880844 PMID:34788109 |
|
NCBI chr10:49,392,119...49,623,575
|
|
|
G |
CDK13 |
cyclin dependent kinase 13 |
|
ISO |
ClinVar Annotator: match by term: Wolfram-like disorder |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33879837 |
|
NCBI chr18:54,310,311...54,430,060
Ensembl chr18:54,310,324...54,430,786
|
|
G |
WFS1 |
wolframin ER transmembrane glycoprotein |
|
ISO |
ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant |
OMIM ClinVar |
PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 PMID:11161832 PMID:11244483 PMID:11295831 PMID:11317350 PMID:11709537 PMID:11709538 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12754709 PMID:12955714 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:15912360 PMID:16151413 PMID:16648378 PMID:16806192 PMID:17492394 PMID:17603484 PMID:18040659 PMID:18060660 PMID:18414213 PMID:18544103 PMID:18688868 PMID:19042979 PMID:19292454 PMID:19877185 PMID:20028947 PMID:20069065 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21143470 PMID:21446023 PMID:21538838 PMID:21602428 PMID:21917145 PMID:22238590 PMID:23373429 PMID:23429432 PMID:23981289 PMID:24033266 PMID:24890733 PMID:24909696 PMID:25048417 PMID:25133958 PMID:25211237 PMID:25262649 PMID:25388789 PMID:25497598 PMID:25714468 PMID:25741868 PMID:25895475 PMID:26025012 PMID:26284228 PMID:26346818 PMID:26435059 PMID:26467025 PMID:26875006 PMID:26969326 PMID:27068579 PMID:27167055 PMID:27217304 PMID:27395765 PMID:27617222 PMID:27911912 PMID:27959697 PMID:28432734 PMID:28468959 PMID:28492532 PMID:28559085 PMID:28802351 PMID:29529044 PMID:29563951 PMID:29632382 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30773290 PMID:31264968 PMID:31313226 PMID:31343797 PMID:31391115 PMID:31521625 PMID:31567480 PMID:31600780 PMID:31765440 PMID:31850070 PMID:31980526 PMID:32219690 PMID:32350710 PMID:32567228 PMID:32883240 PMID:32938580 PMID:33046911 PMID:33841295 PMID:33879153 PMID:33980734 PMID:34356170 PMID:34445196 PMID:34556497 PMID:34746052 PMID:35206658 PMID:35602877 PMID:36208030 PMID:36597107 PMID:36729443 More...
|
|
NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273
|
|
|
G |
ADGRV1 |
adhesion G protein-coupled receptor V1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:28492532 PMID:28951997 PMID:30303587 |
|
NCBI chr 2:97,703,648...98,277,847
Ensembl chr 2:97,735,053...98,275,748
|
|
G |
ATP6V1B1 |
ATPase H+ transporting V1 subunit B1 |
|
ISO |
OMIM:607197 |
MouseDO |
|
|
NCBI chr 3:71,560,102...71,591,885
Ensembl chr 3:71,561,236...71,591,845
|
|
G |
BSND |
barttin CLCNK type accessory subunit beta |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB |
ClinVar |
PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 PMID:30303587 |
|
NCBI chr 6:157,424,389...157,432,571
Ensembl chr 6:157,425,878...157,432,580
|
|
G |
C14H10orf105 |
chromosome 14 C10orf105 homolog |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:11090341 PMID:11138009 PMID:16679490 PMID:21940737 PMID:25741868 PMID:28492532 PMID:30303587 More...
|
|
NCBI chr14:74,630,827...74,639,180
Ensembl chr14:74,629,796...74,638,022
|
|
G |
CABP2 |
calcium binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:9536098 PMID:17576681 PMID:22981119 PMID:25741868 PMID:28492532 PMID:30303587 More...
|
|
NCBI chr 2:5,014,888...5,020,705
Ensembl chr 2:5,014,810...5,020,775
|
|
G |
CDH23 |
cadherin related 23 |
|
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:20513143 PMID:20613545 PMID:21436283 PMID:21569298 PMID:21940737 PMID:22899989 PMID:23804846 PMID:24033266 PMID:24498627 PMID:25404053 PMID:25741868 PMID:25963016 PMID:27018795 PMID:27573290 PMID:27792758 PMID:28492532 PMID:29148562 PMID:30303587 PMID:31445392 PMID:32485727 PMID:32645618 PMID:32842620 PMID:35020051 More...
|
|
NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834
|
|
G |
CIB2 |
calcium and integrin binding family member 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:23023331 PMID:25741868 PMID:30303587 |
|
NCBI chr 7:47,807,806...47,813,400
Ensembl chr 7:47,788,646...47,813,399
|
|
G |
CLCNK |
chloride voltage-gated channel K |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:30303587 |
|
NCBI chr 6:75,178,914...75,192,670
|
|
G |
CLDN14 |
claudin 14 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:11163249 PMID:15880785 PMID:22246673 PMID:25741868 PMID:30303587 |
|
NCBI chr13:200,121,796...200,201,712
Ensembl chr13:200,128,477...200,145,525
|
|
G |
CLIC5 |
chloride intracellular channel 5 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
|
|
NCBI chr 7:40,683,044...40,808,017
Ensembl chr 7:40,682,907...40,863,886
|
|
G |
EDNRB |
endothelin receptor type B |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 PMID:32747562 |
|
NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884
|
|
G |
EPS8 |
EGFR pathway substrate 8, signaling adaptor |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:25741868 PMID:30303587 |
|
NCBI chr 5:56,817,445...57,005,117
Ensembl chr 5:56,817,606...57,005,113
|
|
G |
ESPN |
espin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
|
NCBI chr 6:67,284,106...67,316,577
Ensembl chr 6:67,284,079...67,316,591
|
|
G |
ESRRB |
estrogen related receptor beta |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:23967202 PMID:24033266 PMID:30303587 PMID:33524517 |
|
NCBI chr 7:99,511,135...99,699,478
Ensembl chr 7:99,514,168...99,699,011
|
|
G |
GIPC3 |
GIPC PDZ domain containing family member 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
|
NCBI chr 2:75,082,048...75,090,145
Ensembl chr 2:75,083,362...75,089,756
|
|
G |
GJB2 |
gap junction protein beta 2 |
|
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:10422812 PMID:10477435 PMID:10508996 PMID:10544226 PMID:10607953 PMID:10633133 PMID:10713883 PMID:10751669 PMID:10782932 PMID:10980526 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:11807148 PMID:11935342 PMID:11968091 PMID:12081719 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12239718 PMID:12372058 PMID:12522556 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:15464308 PMID:15479191 PMID:15617550 PMID:15656949 PMID:15666300 PMID:15790391 PMID:15855033 PMID:15954104 PMID:15964725 PMID:15967879 PMID:15996214 PMID:16059934 PMID:16076412 PMID:16088916 PMID:16125251 PMID:16222667 PMID:16336662 PMID:16379542 PMID:16380907 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16868655 PMID:16945493 PMID:17146393 PMID:17253936 PMID:17406097 PMID:17428550 PMID:17462767 PMID:17553572 PMID:17576681 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18294064 PMID:18414213 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:19465004 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:21510145 PMID:21776002 PMID:21910243 PMID:22000900 PMID:22281373 PMID:22567152 PMID:22567369 PMID:22613756 PMID:22695344 PMID:22855627 PMID:22975760 PMID:22981120 PMID:22995991 PMID:23073770 PMID:23141775 PMID:23451214 PMID:23489192 PMID:23504403 PMID:23638949 PMID:23668481 PMID:23680645 PMID:23757202 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24158611 PMID:24346070 PMID:24387126 PMID:24529908 PMID:24793888 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25153233 PMID:25189242 PMID:25262649 PMID:25288386 PMID:25388846 PMID:25555641 PMID:25636251 PMID:25741868 PMID:25999548 PMID:26059209 PMID:26096904 PMID:26188157 PMID:26381000 PMID:26445815 PMID:26467025 PMID:26778469 PMID:26969326 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27316387 PMID:27481527 PMID:27843504 PMID:28492532 PMID:29062245 PMID:29362677 PMID:29501291 PMID:29921236 PMID:30086704 PMID:30094485 PMID:30303587 PMID:30311386 PMID:30431684 PMID:30872814 PMID:30989077 PMID:31346875 PMID:31827275 PMID:32747562 PMID:33187236 PMID:33524517 PMID:33614373 PMID:34440441 PMID:35396755 More...
|
|
NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
|
|
G |
GJB3 |
gap junction protein beta 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:10587579 |
|
NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,542
|
|
G |
GOSR2 |
golgi SNAP receptor complex member 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB |
ClinVar |
PMID:35802133 PMID:37074134 |
|
NCBI chr12:17,768,082...17,799,313
Ensembl chr12:17,768,111...17,789,315
|
|
G |
GPR156 |
G protein-coupled receptor 156 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB |
ClinVar |
PMID:37814107 |
|
NCBI chr13:139,974,430...140,074,176
Ensembl chr13:140,007,711...140,074,166
|
|
G |
GPSM2 |
G protein signaling modulator 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:20602914 PMID:22578326 PMID:30303587 PMID:32747562 |
|
NCBI chr 4:111,100,912...111,165,902
Ensembl chr 4:111,102,396...111,165,886
|
|
G |
GRXCR2 |
glutaredoxin and cysteine rich domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
|
|
NCBI chr 2:147,215,061...147,231,792
Ensembl chr 2:147,216,279...147,232,478
|
|
G |
ILDR1 |
immunoglobulin like domain containing receptor 1 |
|
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 |
|
NCBI chr13:138,530,905...138,575,483
Ensembl chr13:138,530,910...138,572,189
|
|
G |
LHFPL5 |
LHFPL tetraspan subfamily member 5 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:16459341 PMID:25741868 PMID:30177809 PMID:30298622 PMID:30303587 |
|
NCBI chr 7:31,624,050...31,642,269
Ensembl chr 7:31,624,450...31,642,268
|
|
G |
LOXHD1 |
lipoxygenase homology PLAT domains 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:16199547 PMID:19732867 PMID:21465660 PMID:25741868 PMID:25792669 PMID:28000701 PMID:28492532 PMID:29676012 PMID:30311386 More...
|
|
NCBI chr 1:96,080,751...96,287,034
Ensembl chr 1:96,080,824...96,276,992
|
|
G |
MARVELD2 |
MARVEL domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
|
NCBI chr16:47,529,857...47,563,485
Ensembl chr16:47,530,068...47,563,482
|
|
G |
MSRB3 |
methionine sulfoxide reductase B3 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:19650862 PMID:21185009 PMID:30303587 |
|
NCBI chr 5:29,695,824...29,863,601
Ensembl chr 5:29,695,640...29,863,599
|
|
G |
MYH9 |
myosin heavy chain 9 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
|
|
NCBI chr 5:11,365,603...11,456,475
Ensembl chr 5:11,360,660...11,456,472
|
|
G |
MYO15A |
myosin XVA |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:17546645 PMID:25741868 PMID:27573290 PMID:28492532 PMID:30303587 |
|
NCBI chr12:60,533,502...60,582,645
|
|
G |
MYO7A |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | 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:23451239 PMID:23591405 PMID:23770805 PMID:24033266 PMID:24194196 PMID:25404053 PMID:25468891 PMID:25558175 PMID:25741868 PMID:25798947 PMID:26226137 PMID:26791358 PMID:27344577 PMID:27460420 PMID:27573290 PMID:27957503 PMID:28041643 PMID:28492532 PMID:29692870 PMID:30303587 PMID:30718709 PMID:31479088 PMID:33187236 PMID:33269433 PMID:33671976 PMID:36147510 PMID:36909829 More...
|
|
NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
|
|
G |
OTOA |
otoancorin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:23173898 PMID:24033266 PMID:28492532 PMID:30303587 |
|
NCBI chr 3:23,570,216...23,662,948
Ensembl chr 3:23,570,382...23,662,480
|
|
G |
OTOF |
otoferlin |
|
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:20301429 PMID:22575033 PMID:24033266 PMID:25741868 PMID:26632695 PMID:27082237 PMID:28492532 PMID:30303587 PMID:34113375 More...
|
|
NCBI chr 3:112,478,188...112,581,105
Ensembl chr 3:112,478,027...112,581,104
|
|
G |
OTOG |
otogelin |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:30303587 |
|
NCBI chr 2:41,497,201...41,590,564
Ensembl chr 2:41,497,200...41,584,948
|
|
G |
PCDH15 |
protocadherin related 15 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
|
NCBI chr14:95,530,168...96,388,032
|
|
G |
PDZD7 |
PDZ domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31253780 |
|
NCBI chr14:112,088,332...112,111,348
|
|
G |
PJVK |
pejvakin |
|
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:25741868 PMID:28492532 PMID:30303587 PMID:32747562 More...
|
|
NCBI chr15:84,157,864...84,165,763
Ensembl chr15:84,158,639...84,165,906
|
|
G |
POU4F3 |
POU class 4 homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
|
NCBI chr 2:147,693,013...147,694,345
Ensembl chr 2:147,692,751...147,695,346
|
|
G |
PTPRQ |
protein tyrosine phosphatase receptor type Q |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
|
NCBI chr 5:100,787,025...101,081,145
Ensembl chr 5:100,787,027...101,033,334
|
|
G |
SLC26A4 |
solute carrier family 26 member 4 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | 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: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: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: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:34170635 PMID:34599368 More...
|
|
NCBI chr 9:107,365,121...107,431,065
Ensembl chr 9:107,365,814...107,431,062
|
|
G |
TECTA |
tectorin alpha |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
|
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
|
|
G |
TMC1 |
transmembrane channel like 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | 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:21917145 PMID:22105175 PMID:24033266 PMID:24416283 PMID:24949729 PMID:25491636 PMID:25741868 PMID:25741915 PMID:26467025 PMID:28492532 PMID:30303587 PMID:31379920 PMID:31854501 PMID:32747562 PMID:34523024 More...
|
|
NCBI chr 1:225,714,601...226,111,045
Ensembl chr 1:225,929,109...226,109,469
|
|
G |
TMIE |
transmembrane inner ear |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:30303587 PMID:30311386 More...
|
|
NCBI chr13:29,623,905...29,633,016
Ensembl chr13:29,624,154...29,633,013
|
|
G |
TMPRSS3 |
transmembrane serine protease 3 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | 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:24033266 PMID:25741868 PMID:26226137 PMID:26969326 PMID:28492532 PMID:30303587 PMID:30311386 PMID:30622556 PMID:34868270 More...
|
|
NCBI chr13:205,707,501...205,733,037
Ensembl chr13:205,709,663...205,732,824
|
|
G |
TOGARAM2 |
TOG array regulator of axonemal microtubules 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB |
ClinVar |
|
|
NCBI chr 3:110,231,899...110,291,523
Ensembl chr 3:110,231,017...110,275,267
|
|
G |
TPRN |
taperin |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB |
ClinVar |
PMID:20170899 PMID:30303587 |
|
|
|
G |
TRIOBP |
TRIO and F-actin binding protein |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:30303587 |
|
NCBI chr 5:10,066,080...10,132,668
Ensembl chr 5:10,066,086...10,126,491
|
|
G |
USH1C |
USH1 protein network component harmonin |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | 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...
|
|
NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247
|
|
G |
USH1G |
USH1 protein network component sans |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive |
ClinVar |
PMID:25741868 PMID:30303587 |
|
NCBI chr12:6,333,640...6,341,083
Ensembl chr12:6,334,310...6,340,361
|
|
G |
USH2A |
usherin |
|
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...
|
|
NCBI chr10:5,825,591...6,662,733
|
|
G |
WHRN |
whirlin |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness |
ClinVar |
PMID:30303587 |
|
NCBI chr 1:255,009,765...255,095,281
Ensembl chr 1:255,009,771...255,095,222
|
|
|
G |
PPIP5K2 |
diphosphoinositol pentakisphosphate kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 100 |
OMIM ClinVar |
PMID:15538632 PMID:25741868 PMID:29590114 |
|
NCBI chr 2:108,596,733...108,690,859
Ensembl chr 2:108,585,959...108,690,858
|
|
|
G |
GRXCR2 |
glutaredoxin and cysteine rich domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 101 |
OMIM ClinVar |
PMID:24619944 PMID:25741868 PMID:28492532 |
|
NCBI chr 2:147,215,061...147,231,792
Ensembl chr 2:147,216,279...147,232,478
|
|
|
G |
EPS8 |
EGFR pathway substrate 8, signaling adaptor |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 102 |
OMIM ClinVar |
PMID:24033266 PMID:24741995 PMID:25741868 PMID:28492532 PMID:30303587 |
|
NCBI chr 5:56,817,445...57,005,117
Ensembl chr 5:56,817,606...57,005,113
|
|
|
G |
CLIC5 |
chloride intracellular channel 5 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 103 |
OMIM ClinVar |
PMID:24033266 PMID:24781754 PMID:25741868 PMID:28492532 |
|
NCBI chr 7:40,683,044...40,808,017
Ensembl chr 7:40,682,907...40,863,886
|
|
G |
DICER1 |
dicer 1, ribonuclease III |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 103 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 7:116,361,630...116,436,471
Ensembl chr 7:116,365,802...116,411,224
|
|
|
G |
GJB2 |
gap junction protein beta 2 |
|
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: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: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: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:24033266 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:28492532 PMID:29362677 PMID:29501291 PMID:30086704 PMID:30303587 PMID:30311386 PMID:30431684 PMID:30872814 PMID:31346875 PMID:32747562 PMID:33524517 PMID:34440441 PMID:35396755 More...
|
|
NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
|
|
G |
RIPOR2 |
RHO family interacting cell polarization regulator 2 |
|
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 |
|
NCBI chr 7:19,609,358...19,842,345
Ensembl chr 7:19,609,358...19,838,093
|
|
|
G |
EPS8 |
EGFR pathway substrate 8, signaling adaptor |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 106 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 5:56,817,445...57,005,117
Ensembl chr 5:56,817,606...57,005,113
|
|
G |
EPS8L2 |
EPS8 signaling adaptor L2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 106 |
OMIM ClinVar |
PMID:25741868 PMID:25741905 PMID:26282398 PMID:28281779 PMID:28492532 PMID:32747562 More...
|
|
NCBI chr 2:435,257...452,630
Ensembl chr 2:433,649...452,630
|
|
|
G |
WBP2 |
WW domain binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 107 |
OMIM ClinVar |
PMID:25741868 PMID:26881968 PMID:28492532 |
|
NCBI chr12:5,565,112...5,573,277
Ensembl chr12:5,565,137...5,573,274
|
|
|
G |
ROR1 |
receptor tyrosine kinase like orphan receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 108 |
OMIM ClinVar |
PMID:25741868 PMID:27162350 PMID:28492532 |
|
NCBI chr 6:148,314,575...148,834,659
Ensembl chr 6:148,315,286...148,761,524
|
|
|
G |
ESRP1 |
epithelial splicing regulatory protein 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 109 |
OMIM ClinVar |
PMID:25741868 PMID:29107558 |
|
NCBI chr 4:41,993,944...42,061,706
Ensembl chr 4:41,993,948...42,061,236
|
|
|
G |
COCH |
cochlin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 110 |
OMIM ClinVar |
PMID:24033266 PMID:25230692 PMID:25741868 PMID:28492532 PMID:29449721 PMID:31126177 More...
|
|
NCBI chr 7:68,580,124...68,595,142
Ensembl chr 7:68,576,153...68,594,077
|
|
|
G |
MPZL2 |
myelin protein zero like 2 |
|
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...
|
|
NCBI chr 9:45,566,365...45,578,168
Ensembl chr 9:45,565,513...45,578,185
|
|
|
G |
BDP1 |
B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 112 |
OMIM ClinVar |
PMID:24312468 PMID:25741868 |
|
NCBI chr16:47,801,273...47,909,513
Ensembl chr16:47,801,315...47,908,851
|
|
|
G |
CEACAM16 |
CEA cell adhesion molecule 16, tectorial membrane component |
|
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...
|
|
NCBI chr 6:51,217,085...51,228,458
Ensembl chr 6:51,220,812...51,231,761
|
|
|
G |
GRAP |
GRB2 related adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 114 |
OMIM ClinVar |
PMID:25741868 PMID:30610177 |
|
NCBI chr12:60,261,560...60,281,886
Ensembl chr12:60,260,981...60,281,884
|
|
|
G |
SPNS2 |
SPNS lysolipid transporter 2, sphingosine-1-phosphate |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 115 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr12:50,454,051...50,491,172
Ensembl chr12:50,454,063...50,491,164
|
|
|
G |
CLDN9 |
claudin 9 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 116 |
OMIM ClinVar |
PMID:25741868 PMID:30311386 PMID:31175426 PMID:35802133 PMID:36633841 |
|
NCBI chr 3:39,172,731...39,181,827
Ensembl chr 3:39,172,853...39,174,354
|
|
|
G |
CLRN2 |
clarin 2 |
|
ISO |
ClinVar Annotator: match by term: CLRN2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 117 |
OMIM ClinVar |
PMID:25741868 PMID:33496845 |
|
NCBI chr 8:12,551,855...12,564,512
Ensembl chr 8:12,551,892...12,564,379
|
|
|
G |
AFG2B |
AFG2 AAA ATPase homolog B |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 119 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:34626583 |
|
NCBI chr 1:126,314,573...126,335,193
Ensembl chr 1:126,313,402...126,335,475
|
|
|
G |
ATP2B2 |
ATPase plasma membrane Ca2+ transporting 2 |
|
ISO |
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:27535533 PMID:28492532 PMID:29452611 More...
|
|
NCBI chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128
|
|
G |
C14H10orf105 |
chromosome 14 C10orf105 homolog |
|
ISO |
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:28492532 PMID:28847902 PMID:30303587 PMID:31445392 PMID:31541171 PMID:35020051 More...
|
|
NCBI chr14:74,630,827...74,639,180
Ensembl chr14:74,629,796...74,638,022
|
|
G |
CDH23 |
cadherin related 23 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 12 |
OMIM ClinVar |
PMID:2289998 PMID:2706105 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: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:28383030 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:31054281 PMID:31152317 PMID:31445392 PMID:31541171 PMID:31850270 PMID:31872526 PMID:32238869 PMID:32467589 PMID:32747562 PMID:32842620 PMID:32860223 PMID:32991204 PMID:33576794 PMID:34416374 PMID:34824372 PMID:34906470 PMID:34906502 PMID:34948090 PMID:35020051 PMID:35062939 PMID:35186827 PMID:35248088 PMID:35440622 PMID:35802133 PMID:36460718 PMID:36633841 PMID:36672845 More...
|
|
NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834
|
|
G |
GJB2 |
gap junction protein beta 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 12 |
ClinVar |
PMID:24367894 PMID:25741868 |
|
NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
|
|
G |
PSAP |
prosaposin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 12 |
ClinVar |
PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:28492532 |
|
NCBI chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763
|
|
G |
VSIR |
V-set immunoregulatory receptor |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 12 |
ClinVar |
PMID:25741868 |
|
NCBI chr14:74,667,081...74,693,347
Ensembl chr14:74,666,624...74,693,281
|
|
|
G |
MINAR2 |
membrane integral NOTCH2 associated receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 120 |
OMIM ClinVar |
PMID:35727972 |
|
NCBI chr 2:132,413,265...132,428,786
Ensembl chr 2:132,416,040...132,428,922
|
|
G |
OBSCN |
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 120 |
ClinVar |
|
|
NCBI chr 2:51,317,538...51,534,246
Ensembl chr 2:51,285,488...51,534,236
|
|
|
G |
GPR156 |
G protein-coupled receptor 156 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 121 |
OMIM ClinVar |
PMID:37814107 |
|
NCBI chr13:139,974,430...140,074,176
Ensembl chr13:140,007,711...140,074,166
|
|
|
G |
TMTC4 |
transmembrane O-mannosyltransferase targeting cadherins 4 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 122 |
OMIM ClinVar |
PMID:37943620 |
|
NCBI chr11:69,361,219...69,442,769
Ensembl chr11:69,361,229...69,443,039
|
|
|
G |
STX4 |
syntaxin 4 |
|
ISO |
|
OMIM |
|
|
NCBI chr 3:17,422,266...17,431,377
Ensembl chr 3:17,416,842...17,431,053
|
|
|
G |
GIPC3 |
GIPC PDZ domain containing family member 3 |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95 | ClinVar Annotator: match by term: Deafness, autosomal recessive 15 |
OMIM ClinVar |
PMID:9286457 PMID:17690910 PMID:21326233 PMID:21660509 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 PMID:32682410 More...
|
|
NCBI chr 2:75,082,048...75,090,145
Ensembl chr 2:75,083,362...75,089,756
|
|
|
G |
CATSPER2 |
cation channel sperm associated 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 |
ClinVar |
PMID:11687802 PMID:21681106 PMID:25741868 PMID:26011646 |
|
NCBI chr 1:127,814,349...127,831,023
Ensembl chr 1:127,814,376...127,829,109
|
|
G |
CKMT1A |
creatine kinase, mitochondrial 1A |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:127,852,533...127,859,066
|
|
G |
FRMD5 |
FERM domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:127,317,660...127,653,112
Ensembl chr 1:127,317,701...127,650,665
|
|
G |
PDIA3 |
protein disulfide isomerase family A member 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:127,786,174...127,814,096
Ensembl chr 1:127,785,772...127,814,196
|
|
G |
PPIP5K1 |
diphosphoinositol pentakisphosphate kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:127,865,487...127,915,501
Ensembl chr 1:127,865,562...127,915,451
|
|
G |
STRC |
stereocilin |
|
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:31552524 PMID:32203226 PMID:32860223 PMID:35802133 PMID:36633841 More...
|
|
NCBI chr 1:127,830,759...127,852,392
Ensembl chr 1:127,835,622...127,852,339
|
|
|
G |
USH1C |
USH1 protein network component harmonin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 18 |
ClinVar |
PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16199547 PMID:16679490 PMID:16963483 PMID:17174357 PMID:17407589 PMID:17576681 PMID:18665195 PMID:20095043 PMID:20142502 PMID:20301442 PMID:20613545 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:24033266 PMID:24416283 PMID:24498627 PMID:24875298 PMID:25333064 PMID:25356976 PMID:25468891 PMID:25525159 PMID:25560255 PMID:25741868 PMID:25741913 PMID:26969326 PMID:27440999 PMID:27460420 PMID:27743452 PMID:27848944 PMID:27957503 PMID:28041643 PMID:28492532 PMID:29276601 PMID:29625443 PMID:29739340 PMID:29907799 PMID:30096381 PMID:30303587 PMID:30718709 PMID:31858762 PMID:32747562 PMID:33576794 PMID:33724713 More...
|
|
NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247
|
|
|
G |
USH1C |
USH1 protein network component harmonin |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18A | ClinVar Annotator: match by term: Deafness, autosomal recessive 18A |
OMIM ClinVar |
PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16199547 PMID:16679490 PMID:16963483 PMID:17174357 PMID:17407589 PMID:17576681 PMID:18665195 PMID:20095043 PMID:20142502 PMID:20301442 PMID:20613545 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:24033266 PMID:24416283 PMID:24498627 PMID:24875298 PMID:25333064 PMID:25356976 PMID:25468891 PMID:25525159 PMID:25560255 PMID:25741868 PMID:25741913 PMID:26969326 PMID:27440999 PMID:27460420 PMID:27743452 PMID:27848944 PMID:27957503 PMID:28041643 PMID:28492532 PMID:29276601 PMID:29625443 PMID:29739340 PMID:29907799 PMID:30096381 PMID:30303587 PMID:30718709 PMID:31858762 PMID:32747562 PMID:33576794 PMID:33724713 More...
|
|
NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247
|
|
|
G |
OTOG |
otogelin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 18b | ClinVar Annotator: match by term: OTOG-related condition |
OMIM ClinVar |
PMID:9536098 PMID:10655058 PMID:16199547 PMID:17576681 PMID:23122587 PMID:24033266 PMID:24378291 PMID:25741868 PMID:26467025 PMID:28050010 PMID:28492532 PMID:29196752 PMID:29907799 PMID:30139988 PMID:30311386 PMID:31152317 PMID:31645975 PMID:31827275 PMID:32048449 PMID:33223529 PMID:35802133 PMID:36633841 More...
|
|
NCBI chr 2:41,497,201...41,590,564
Ensembl chr 2:41,497,200...41,584,948
|
|
|
G |
CRYL1 |
crystallin lambda 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 |
ClinVar |
PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 PMID:15994881 PMID:17041943 PMID:18324688 PMID:20236118 PMID:27480936 PMID:28492532 More...
|
|
NCBI chr11:845,471...925,849
Ensembl chr11:845,475...931,648
|
|
G |
GJA3 |
gap junction protein alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr11:750,658...751,889
Ensembl chr11:750,658...751,800
|
|
G |
GJB2 |
gap junction protein beta 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 |
OMIM ClinVar |
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 PMID:2706105 PMID:2956987 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:9838096 PMID:9856479 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID:10369869 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10704187 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10980526 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11445873 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12064630 PMID:12081719 PMID:12111646 PMID:12112666 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12372058 PMID:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12457340 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12673800 PMID:12684873 PMID:12746422 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12872268 PMID:12885339 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14556203 PMID:14571368 PMID:14643477 PMID:14676473 PMID:14681040 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14978038 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15146674 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15603707 PMID:15617546 PMID:15617550 PMID:15633193 PMID:15638823 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15757815 PMID:15790391 PMID:15832357 PMID:15841999 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:15994881 PMID:15996214 PMID:16059934 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16154643 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16645853 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16885744 PMID:16931589 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17077310 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17309986 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17428836 PMID:17431919 PMID:17444514 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17567887 PMID:17567889 PMID:17576681 PMID:17581693 PMID:17660464 PMID:17661817 PMID:17666888 PMID:17671735 PMID:17935238 PMID:17993581 PMID:18024254 PMID:18196482 PMID:18294064 PMID:18316665 PMID:18324688 PMID:18353197 PMID:18414213 PMID:18451998 PMID:18472371 PMID:18519481 PMID:18560174 PMID:18570691 PMID:18580690 PMID:18607988 PMID:18649181 PMID:18668259 PMID:18684989 PMID:18688874 PMID:18758381 PMID:18776652 PMID:18804553 PMID:18809215 PMID:18837651 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:18990456 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19101659 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19283857 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19384972 PMID:19390476 PMID:19465004 PMID:19567088 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19718752 PMID:19719946 PMID:19723508 PMID:19744334 PMID:19775242 PMID:19814620 PMID:19877196 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20031451 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20096356 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20412116 PMID:20441744 PMID:20442751 PMID:20497192 PMID:20542681 PMID:20553101 PMID:20563649 PMID:20593197 PMID:20601923 PMID:20607074 PMID:20639189 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 PMID:20937258 PMID:20956747 PMID:20981092 PMID:21040787 PMID:21055240 PMID:21094084 PMID:21094651 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21292415 PMID:21298213 PMID:21298644 PMID:21366436 PMID:21388256 PMID:21392827 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21510145 PMID:21557232 PMID:21728791 PMID:21738759 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21836520 PMID:21844220 PMID:21868108 PMID:21910243 PMID:21912263 PMID:21916817 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22031297 PMID:22037723 PMID:22103400 PMID:22106692 PMID:22208444 PMID:22281373 PMID:22384008 PMID:22389666 PMID:22429511 PMID:22450542 PMID:22484064 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22567861 PMID:22574200 PMID:22592158 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22704424 PMID:22747691 PMID:22785241 PMID:22787277 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23039283 PMID:23073770 PMID:23120683 PMID:23141775 PMID:23266159 PMID:23328711 PMID:23418865 PMID:23451214 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23684175 PMID:23695287 PMID:23751281 PMID:23757202 PMID:23804846 PMID:23812555 PMID:23826813 PMID:23856378 PMID:23873582 PMID:23900770 PMID:23967136 PMID:23967202 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24078562 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24158896 PMID:24224790 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 PMID:24372583 PMID:24503448 PMID:24507663 PMID:24529908 PMID:24551843 PMID:24596593 PMID:24611097 PMID:24612839 PMID:24645897 PMID:24654934 PMID:24706568 PMID:24737404 PMID:24762805 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24840842 PMID:24941117 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25153233 PMID:25162826 PMID:25188385 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25365227 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25560255 PMID:25587757 PMID:25625422 PMID:25628337 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25741895 PMID:25752103 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26046157 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26186295 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26397989 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26482070 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26763877 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27067584 PMID:27087580 PMID:27153395 PMID:27169813 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 PMID:27316387 PMID:27340645 PMID:27398341 PMID:27466889 PMID:27481527 PMID:27501294 PMID:27518711 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27761313 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884173 PMID:27884957 PMID:28008688 PMID:28012523 PMID:28222800 PMID:28263784 PMID:28271504 PMID:28383030 PMID:28405014 PMID:28428247 PMID:28483220 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28640090 PMID:28651654 PMID:28704896 PMID:28786104 PMID:28900111 PMID:28900455 PMID:29062245 PMID:29106882 PMID:29140768 PMID:29148562 PMID:29196752 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29542069 PMID:29605365 PMID:29625052 PMID:29665173 PMID:29773520 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30068397 PMID:30086704 PMID:30094485 PMID:30146550 PMID:30168495 PMID:30245029 PMID:30275481 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30466042 PMID:30473554 PMID:30589569 PMID:30693673 PMID:30733538 PMID:30755392 PMID:30762455 PMID:30828346 PMID:30872814 PMID:30896630 PMID:30989077 PMID:31035178 PMID:31053783 PMID:31099403 PMID:31152317 PMID:31160754 PMID:31162818 PMID:31163360 PMID:31195736 PMID:31346875 PMID:31370293 PMID:31379920 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31827275 PMID:31911633 PMID:31980526 PMID:31992338 PMID:32067424 PMID:32090102 PMID:32258544 PMID:32355288 PMID:32455934 PMID:32645618 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33179747 PMID:33187236 PMID:33297549 PMID:33333757 PMID:33466560 PMID:33524517 PMID:33597575 PMID:33614373 PMID:33914963 PMID:33928925 PMID:34062854 PMID:34276761 PMID:34325055 PMID:34335733 PMID:34354426 PMID:34403091 PMID:34440441 PMID:34515852 PMID:34652575 PMID:35016843 PMID:35182233 PMID:35301649 PMID:35396755 PMID:35864128 PMID:36048236 PMID:36788145 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 More...
|
|
NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
|
|
G |
GJB3 |
gap junction protein beta 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3 |
ClinVar |
PMID:19050930 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,542
|
|
G |
GJB4 |
gap junction protein beta 4 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A |
ClinVar |
PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532 |
|
NCBI chr 6:91,004,794...91,008,231
Ensembl chr 6:91,007,200...91,008,000
|
|
G |
GJB6 |
gap junction protein beta 6 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 |
OMIM ClinVar |
PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 PMID:12172394 PMID:12419304 PMID:12788524 PMID:12885339 PMID:14571368 PMID:14708603 PMID:15213106 PMID:15638823 PMID:15769851 PMID:15994881 PMID:16547895 PMID:16950989 PMID:17041943 PMID:17160938 PMID:17259707 PMID:17666888 PMID:18324688 PMID:19723508 PMID:20536673 PMID:21731760 PMID:22106692 PMID:22617145 PMID:23219093 PMID:23757202 PMID:23863883 PMID:23926005 PMID:23981984 PMID:24033266 PMID:24052723 PMID:24514865 PMID:24522190 PMID:24685692 PMID:25214170 PMID:25262649 PMID:25741868 PMID:26551294 PMID:27068579 PMID:27137747 PMID:27480936 PMID:27817781 PMID:28492532 PMID:29739340 PMID:29771057 PMID:30620052 PMID:31015822 PMID:31589614 PMID:35062939 More...
|
|
NCBI chr11:793,276...800,109
Ensembl chr11:793,280...800,046
|
|
G |
IFT88 |
intraflagellar transport 88 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr11:943,444...1,025,617
Ensembl chr11:943,469...1,025,613
|
|
G |
IL17D |
interleukin 17D |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr11:1,029,219...1,066,086
Ensembl chr11:1,029,109...1,066,085
|
|
G |
XPO4 |
exportin 4 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr11:1,104,270...1,208,144
Ensembl chr11:1,105,014...1,208,116
|
|
G |
XPO4 |
exportin 4 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr11:1,054,816...1,095,118
Ensembl chr11:1,067,061...1,082,591
|
|
|
G |
CRYL1 |
crystallin lambda 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1b |
ClinVar |
PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 PMID:15994881 PMID:17041943 PMID:18324688 PMID:25741868 PMID:27480936 PMID:28492532 More...
|
|
NCBI chr11:845,471...925,849
Ensembl chr11:845,475...931,648
|
|
G |
GJA3 |
gap junction protein alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1b |
ClinVar |
PMID:28492532 |
|
NCBI chr11:750,658...751,889
Ensembl chr11:750,658...751,800
|
|
G |
GJB2 |
gap junction protein beta 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1b |
ClinVar |
PMID:3 PMID:2706105 PMID:2956987 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9422505 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9716127 PMID:9819448 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11445873 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11807148 PMID:11912510 PMID:11935342 PMID:11968091 PMID:12064630 PMID:12081719 PMID:12111646 PMID:12112666 PMID:12121355 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12352684 PMID:12384501 PMID:12384781 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12560944 PMID:12684873 PMID:12746422 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12865758 PMID:12885339 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14571368 PMID:14694360 PMID:14735592 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15479191 PMID:15617550 PMID:15638823 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:15994881 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16545002 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17331080 PMID:17357124 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17505205 PMID:17553572 PMID:17576681 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18294064 PMID:18324688 PMID:18414213 PMID:18451998 PMID:18560174 PMID:18570691 PMID:18684989 PMID:18776652 PMID:18804553 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19465004 PMID:19707039 PMID:19715472 PMID:19814620 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20095872 PMID:20154630 PMID:20201936 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20497192 PMID:20563649 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20981092 PMID:21094084 PMID:21122151 PMID:21162657 PMID:21220926 PMID:21465647 PMID:21468573 PMID:21488715 PMID:21776002 PMID:21811586 PMID:21910243 PMID:22000900 PMID:22011219 PMID:22037723 PMID:22106692 PMID:22281373 PMID:22567152 PMID:22567369 PMID:22567861 PMID:22574200 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22855627 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23073770 PMID:23141775 PMID:23328711 PMID:23489192 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23668481 PMID:23680645 PMID:23757202 PMID:23804846 PMID:23826813 PMID:23873582 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24158611 PMID:24341454 PMID:24346070 PMID:24529908 PMID:24611097 PMID:24654934 PMID:24737404 PMID:24762805 PMID:24793888 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25087612 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25288386 PMID:25326637 PMID:25388846 PMID:25401782 PMID:25555641 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25999548 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26336802 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26482070 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26969326 PMID:27045574 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27308839 PMID:27481527 PMID:27610647 PMID:27623246 PMID:27785406 PMID:27792752 PMID:27843504 PMID:27884957 PMID:28012523 PMID:28428247 PMID:28489599 PMID:28492532 PMID:29293505 PMID:29311818 PMID:29362677 PMID:29501291 PMID:29921236 PMID:29926981 PMID:30086704 PMID:30094485 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30589569 PMID:30693673 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31346875 PMID:31370293 PMID:31562289 PMID:31827275 PMID:32090102 PMID:32258544 PMID:32747562 PMID:33126609 PMID:33187236 PMID:33297549 PMID:33333757 PMID:33524517 PMID:33614373 PMID:34440441 PMID:34515852 PMID:35016843 PMID:35396755 PMID:115556849 PMID:163800907 More...
|
|
NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
|
|
G |
GJB6 |
gap junction protein beta 6 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1b |
OMIM ClinVar |
PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 PMID:12172394 PMID:12419304 PMID:12788524 PMID:12885339 PMID:14571368 PMID:14708603 PMID:15213106 PMID:15638823 PMID:15769851 PMID:15994881 PMID:16547895 PMID:16950989 PMID:17041943 PMID:17160938 PMID:17259707 PMID:17666888 PMID:18324688 PMID:19723508 PMID:20536673 PMID:21731760 PMID:22106692 PMID:22617145 PMID:23219093 PMID:23757202 PMID:23863883 PMID:23926005 PMID:23981984 PMID:24033266 PMID:24052723 PMID:24514865 PMID:24522190 PMID:24685692 PMID:25214170 PMID:25262649 PMID:25741868 PMID:26551294 PMID:27068579 PMID:27137747 PMID:27480936 PMID:27817781 PMID:28492532 PMID:29739340 PMID:29771057 PMID:30620052 PMID:31015822 PMID:31589614 PMID:35062939 More...
|
|
NCBI chr11:793,276...800,109
Ensembl chr11:793,280...800,046
|
|
G |
IFT88 |
intraflagellar transport 88 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1b |
ClinVar |
PMID:28492532 |
|
NCBI chr11:943,444...1,025,617
Ensembl chr11:943,469...1,025,613
|
|
G |
IL17D |
interleukin 17D |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1b |
ClinVar |
PMID:28492532 |
|
NCBI chr11:1,029,219...1,066,086
Ensembl chr11:1,029,109...1,066,085
|
|
G |
XPO4 |
exportin 4 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1b |
ClinVar |
PMID:28492532 |
|
NCBI chr11:1,104,270...1,208,144
Ensembl chr11:1,105,014...1,208,116
|
|
G |
XPO4 |
exportin 4 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 1b |
ClinVar |
PMID:28492532 |
|
NCBI chr11:1,054,816...1,095,118
Ensembl chr11:1,067,061...1,082,591
|
|
|
G |
MYO7A |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 2 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2 |
OMIM ClinVar |
PMID:3130723 PMID:7568224 PMID:7870171 PMID:7951250 PMID:8900236 PMID:9002678 PMID:9171832 PMID:9171833 PMID:9259201 PMID:9382091 PMID:9536098 PMID:9718356 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10868224 PMID:10930322 PMID:11391666 PMID:12112664 PMID:15028842 PMID:15043528 PMID:15121790 PMID:15221449 PMID:15300860 PMID:15606003 PMID:15660226 PMID:15823922 PMID:16199547 PMID:16400615 PMID:16470552 PMID:16652077 PMID:16679490 PMID:16963483 PMID:17361009 PMID:17576681 PMID:17960123 PMID:18181211 PMID:18323324 PMID:18463160 PMID:18484607 PMID:18700726 PMID:19074810 PMID:19156839 PMID:19299023 PMID:19375528 PMID:19683999 PMID:19888295 PMID:20052763 PMID:20132242 PMID:20146813 PMID:20497194 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21117948 PMID:21311020 PMID:21436283 PMID:21487335 PMID:21569298 PMID:21602428 PMID:21738395 PMID:21873662 PMID:21901789 PMID:22135276 PMID:22219650 PMID:22334370 PMID:22681893 PMID:22690115 PMID:22785243 PMID:22898263 PMID:22903915 PMID:23148716 PMID:23208854 PMID:23226338 PMID:23237960 PMID:23451214 PMID:23451239 PMID:23559863 PMID:23591405 PMID:23770805 PMID:23804846 PMID:23882135 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24194196 PMID:24199935 PMID:24498627 PMID:24618850 PMID:24831256 PMID:24853665 PMID:24875298 PMID:24997346 PMID:25080338 PMID:25133751 PMID:25211151 PMID:25262649 PMID:25333064 PMID:25342930 PMID:25373420 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25741868 PMID:25741913 PMID:25741916 PMID:25788563 PMID:25798947 PMID:26011067 PMID:26164827 PMID:26226137 PMID:26309859 PMID:26338283 PMID:26346818 PMID:26445815 PMID:26467025 PMID:26486028 PMID:26561413 PMID:26633542 PMID:26654877 PMID:26791358 PMID:26872967 PMID:26969326 PMID:27013738 PMID:27068579 PMID:27160483 PMID:27208204 PMID:27344577 PMID:27440999 PMID:27460420 PMID:27573290 PMID:27583663 PMID:27610647 PMID:27729122 PMID:27743452 PMID:27766948 PMID:27911912 PMID:27957503 PMID:28000701 PMID:28008688 PMID:28041643 PMID:28281779 PMID:28439001 PMID:28451532 PMID:28472130 PMID:28492532 PMID:28559085 PMID:28944237 PMID:28968992 PMID:29048421 PMID:29099798 PMID:29142287 PMID:29178603 PMID:29196752 PMID:29276601 PMID:29416772 PMID:29490346 PMID:29625443 PMID:29692870 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30337596 PMID:30358468 PMID:30390570 PMID:30459346 PMID:30718709 PMID:30733538 PMID:30828346 PMID:30881389 PMID:31035849 PMID:31266775 PMID:31456290 PMID:31479088 PMID:31541171 PMID:31964843 PMID:32097363 PMID:32428919 PMID:32467589 PMID:32531858 PMID:32747562 PMID:32853555 PMID:32860223 PMID:33089500 PMID:33105617 PMID:33111345 PMID:33187236 PMID:33297549 PMID:33363762 PMID:33576163 PMID:33576794 PMID:33623043 PMID:33671976 PMID:33691693 PMID:33724713 PMID:33924653 PMID:34148116 PMID:34416374 PMID:34426522 PMID:34837038 PMID:34948090 PMID:35453549 PMID:35551639 PMID:35640668 PMID:35802133 PMID:36147510 PMID:36164746 PMID:36633841 PMID:36672771 PMID:36909829 More...
|
|
NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
|
|
|
G |
TECTA |
tectorin alpha |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 21 | ClinVar Annotator: match by term: Deafness, neurosensory autosomal recessive 21 | ClinVar Annotator: match by term: TECTA-related condition |
OMIM ClinVar |
PMID:9536098 PMID:9949200 PMID:11087000 PMID:12746400 PMID:17431902 PMID:17576681 PMID:17661817 PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:22980975 PMID:23967202 PMID:24033266 PMID:24130743 PMID:24586623 PMID:25262649 PMID:25741868 PMID:26467025 PMID:26969326 PMID:27068579 PMID:27627659 PMID:28000701 PMID:28492532 PMID:29196752 PMID:30303587 PMID:30311386 PMID:31163360 PMID:31554319 PMID:32747562 PMID:32853555 PMID:33111345 PMID:34008892 PMID:35802133 PMID:36633841 More...
|
|
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
|
|
|
G |
IGSF6 |
immunoglobulin superfamily member 6 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 22 |
ClinVar |
PMID:25741868 PMID:33492714 |
|
NCBI chr 3:23,673,162...23,683,256
Ensembl chr 3:23,673,148...23,683,864
|
|
G |
METTL9 |
methyltransferase 9, His-X-His N1(pi)-histidine |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 22 |
ClinVar |
PMID:25741868 PMID:33492714 |
|
NCBI chr 3:23,670,063...23,722,242
Ensembl chr 3:23,670,063...23,722,198
|
|
G |
OTOA |
otoancorin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 22 | ClinVar Annotator: match by term: OTOA-related condition |
OMIM ClinVar |
PMID:9536098 PMID:11972037 PMID:16199547 PMID:17576681 PMID:19888295 PMID:23173898 PMID:23690975 PMID:24033266 PMID:24963352 PMID:25373420 PMID:25741868 PMID:26434960 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28492532 PMID:29196752 PMID:30303587 PMID:30311386 PMID:30740825 PMID:30828794 PMID:31152317 PMID:31527525 PMID:31827275 PMID:33492714 PMID:33597575 PMID:33879512 PMID:34175691 PMID:34416374 PMID:35802133 PMID:36633841 PMID:37114731 More...
|
|
NCBI chr 3:23,570,216...23,662,948
Ensembl chr 3:23,570,382...23,662,480
|
|
G |
UQCRC2 |
ubiquinol-cytochrome c reductase core protein 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 22 |
ClinVar |
PMID:25741868 PMID:33492714 |
|
NCBI chr 3:24,197,743...24,228,831
Ensembl chr 3:24,197,747...24,228,832
|
|
|
G |
PCDH15 |
protocadherin related 15 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 23 |
OMIM ClinVar |
PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 PMID:15028842 PMID:15660226 PMID:16199547 PMID:16679490 PMID:16963483 PMID:17277737 PMID:17576681 PMID:18484607 PMID:18719945 PMID:19107147 PMID:19375528 PMID:19683999 PMID:20301442 PMID:20538994 PMID:21436283 PMID:21569298 PMID:22135276 PMID:22183965 PMID:22815625 PMID:22981120 PMID:23451239 PMID:23591405 PMID:23804846 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24498627 PMID:24618850 PMID:24705292 PMID:24831256 PMID:24940003 PMID:25262649 PMID:25307757 PMID:25333064 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25525159 PMID:25575603 PMID:25741868 PMID:25741898 PMID:26166082 PMID:26226137 PMID:26467025 PMID:26791358 PMID:26872967 PMID:26969326 PMID:27058588 PMID:27068579 PMID:27440999 PMID:27460420 PMID:27743452 PMID:27861356 PMID:28000701 PMID:28281779 PMID:28492532 PMID:28847902 PMID:28944237 PMID:29568747 PMID:30029624 PMID:30054919 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30459346 PMID:30718709 PMID:31231422 PMID:32467589 PMID:32747562 PMID:33111345 PMID:33576794 PMID:34416374 PMID:34440452 PMID:34744965 PMID:34751129 PMID:35802133 PMID:35836572 PMID:36147510 PMID:36633841 More...
|
|
NCBI chr14:95,530,168...96,388,032
|
|
|
G |
RDX |
radixin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 24 |
OMIM ClinVar |
PMID:17226784 PMID:19215054 PMID:24033266 PMID:25741868 PMID:25741916 PMID:26467025 PMID:27231709 PMID:28492532 PMID:29986705 PMID:30311386 PMID:32747562 More...
|
|
NCBI chr 9:38,243,608...38,299,561
Ensembl chr 9:38,220,447...38,322,097
|
|
|
G |
GAB1 |
GRB2 associated binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 26 |
OMIM ClinVar |
PMID:11101839 PMID:25741868 PMID:29408807 |
|
NCBI chr 8:84,257,958...84,391,511
Ensembl chr 8:84,257,965...84,391,621
|
|
|
G |
TRIO |
trio Rho guanine nucleotide exchange factor |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 28 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32109419 |
|
NCBI chr16:3,690,831...3,921,554
Ensembl chr16:3,564,171...3,921,553
|
|
G |
TRIOBP |
TRIO and F-actin binding protein |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 28 | ClinVar Annotator: match by term: TRIOBP-related condition |
OMIM ClinVar |
PMID:16385457 PMID:16385458 PMID:20510926 PMID:23967202 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26872740 PMID:26969326 PMID:27014650 PMID:27068579 PMID:28000701 PMID:28089734 PMID:28492532 PMID:29197352 PMID:30303587 PMID:30311386 PMID:31178897 PMID:34440452 PMID:35802133 PMID:36633841 More...
|
|
NCBI chr 5:10,066,080...10,132,668
Ensembl chr 5:10,066,086...10,126,491
|
|
|
G |
CLDN14 |
claudin 14 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 29 |
OMIM ClinVar |
PMID:11163249 PMID:15880785 PMID:22246673 PMID:23235333 PMID:23590985 PMID:23991001 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26969326 PMID:27838790 PMID:28492532 PMID:30303587 PMID:30311386 PMID:33105617 More...
|
|
NCBI chr13:200,121,796...200,201,712
Ensembl chr13:200,128,477...200,145,525
|
|
|
G |
CHD7 |
chromodomain helicase DNA binding protein 7 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 3 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146
|
|
G |
MYO15A |
myosin XVA |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 | ClinVar Annotator: match by term: Deafness, autosomal recessive 3 | ClinVar Annotator: match by term: MYO15A-related condition | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3 |
OMIM ClinVar |
PMID:2574186 PMID:7616538 PMID:7704031 PMID:9536098 PMID:9603736 PMID:10552926 PMID:11735029 PMID:16199547 PMID:17546645 PMID:17576681 PMID:17851452 PMID:17853461 PMID:19274735 PMID:19888295 PMID:20505086 PMID:20642360 PMID:21917145 PMID:22245518 PMID:22736430 PMID:22903915 PMID:23208854 PMID:23767834 PMID:23804846 PMID:23865914 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24123792 PMID:24130743 PMID:24206587 PMID:24498627 PMID:24853665 PMID:24875298 PMID:24949729 PMID:25262649 PMID:25373420 PMID:25741868 PMID:25741909 PMID:25741916 PMID:25788563 PMID:25792667 PMID:26011067 PMID:26075876 PMID:26226137 PMID:26242193 PMID:26302205 PMID:26399936 PMID:26445815 PMID:26467025 PMID:26561413 PMID:26633542 PMID:26763877 PMID:26810297 PMID:26915297 PMID:26969326 PMID:27068579 PMID:27344577 PMID:27375115 PMID:27436265 PMID:27573290 PMID:27635202 PMID:27734841 PMID:27870113 PMID:28000701 PMID:28390610 PMID:28492532 PMID:29196752 PMID:29482514 PMID:29907799 PMID:29986705 PMID:30096381 PMID:30139988 PMID:30303587 PMID:30311386 PMID:30622556 PMID:30682115 PMID:30733538 PMID:30828794 PMID:30896630 PMID:30953472 PMID:31053783 PMID:31130284 PMID:31379920 PMID:31389194 PMID:31581539 PMID:31827275 PMID:31980526 PMID:32279305 PMID:32617096 PMID:32623615 PMID:32658404 PMID:32747562 PMID:32802042 PMID:32860223 PMID:33095980 PMID:33111345 PMID:33187236 PMID:33208113 PMID:33297549 PMID:33398081 PMID:33524517 PMID:33597575 PMID:33879512 PMID:34265623 PMID:34325055 PMID:34374074 PMID:34416374 PMID:34599368 PMID:34733312 PMID:34974475 PMID:35062939 PMID:35346193 PMID:35440622 PMID:35580552 PMID:35802133 PMID:35939872 PMID:35982127 PMID:36217262 PMID:36401330 PMID:36633841 More...
|
|
NCBI chr12:60,533,502...60,582,645
|
|
|
G |
MYO3A |
myosin IIIA |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 30 | ClinVar Annotator: match by term: MYO3A-related condition |
OMIM ClinVar |
PMID:9536098 PMID:12032315 PMID:17344846 PMID:17576681 PMID:21165622 PMID:23967202 PMID:23990876 PMID:24033266 PMID:24214986 PMID:25741868 PMID:26166082 PMID:26467025 PMID:26841241 PMID:27068579 PMID:28492532 PMID:30245029 PMID:30311386 PMID:32006683 PMID:32519820 PMID:32747562 More...
|
|
NCBI chr10:49,392,119...49,623,575
|
|
|
G |
WHRN |
whirlin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 31 | ClinVar Annotator: match by term: WHIRLER, MOUSE, HOMOLOG OF |
OMIM ClinVar |
PMID:9536098 PMID:11973626 PMID:12833159 PMID:15841483 PMID:17576681 PMID:20352026 PMID:21569298 PMID:21654738 PMID:22135276 PMID:22147658 PMID:23804846 PMID:24033266 PMID:25262649 PMID:25404053 PMID:25468891 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30245029 PMID:30311386 PMID:31541171 PMID:35114279 More...
|
|
NCBI chr 1:255,009,765...255,095,281
Ensembl chr 1:255,009,771...255,095,222
|
|
|
G |
CDC14A |
cell division cycle 14A |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 105 | ClinVar Annotator: match by term: Deafness, autosomal recessive 32 |
OMIM ClinVar |
PMID:12634867 PMID:24033266 PMID:25741868 PMID:27259055 PMID:28492532 PMID:29293958 PMID:31850270 PMID:31906439 PMID:32747562 PMID:34426522 More...
|
|
NCBI chr 4:117,635,849...117,804,568
Ensembl chr 4:117,635,861...117,805,254
|
|
|
G |
ESRRB |
estrogen related receptor beta |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 35 |
OMIM ClinVar |
PMID:12529709 PMID:18179891 PMID:22951369 PMID:23767834 PMID:24033266 PMID:25342930 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29636544 PMID:30828346 PMID:31389194 More...
|
|
NCBI chr 7:99,511,135...99,699,478
Ensembl chr 7:99,514,168...99,699,011
|
|
|
G |
ESPN |
espin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 36 | ClinVar Annotator: match by term: Deafness, autosomal recessive 36, with or without vestibular involvement | ClinVar Annotator: match by term: Deafness, autosomal recessive 36, without vestibular involvement | ClinVar Annotator: match by term: Deafness, without vestibular involvement, autosomal dominant |
OMIM ClinVar |
PMID:9763424 PMID:15286153 PMID:15930085 PMID:18973245 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29572253 PMID:30303587 PMID:30622556 PMID:32747562 PMID:33297549 PMID:35802133 PMID:36633841 More...
|
|
NCBI chr 6:67,284,106...67,316,577
Ensembl chr 6:67,284,079...67,316,591
|
|
|
G |
MYO6 |
myosin VI |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 37 | ClinVar Annotator: match by term: MYO6-related condition |
OMIM ClinVar |
PMID:9536098 PMID:11167014 PMID:12687499 PMID:16199547 PMID:17576681 PMID:18212818 PMID:18348273 PMID:23767834 PMID:24033266 PMID:25080041 PMID:25741868 PMID:25741877 PMID:25999546 PMID:26445815 PMID:26467025 PMID:26944241 PMID:26969326 PMID:28492532 PMID:30311386 PMID:30582396 PMID:31589614 PMID:32143290 PMID:32747562 PMID:33279834 PMID:33724713 More...
|
|
NCBI chr 1:89,992,860...90,137,767
Ensembl chr 1:89,992,866...90,137,734
|
|
|
G |
HGF |
hepatocyte growth factor |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 39 |
OMIM ClinVar |
PMID:18564920 PMID:19576567 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564
|
|
|
G |
CEACAM16 |
CEA cell adhesion molecule 16, tectorial membrane component |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:33111345 |
|
NCBI chr 6:51,217,085...51,228,458
Ensembl chr 6:51,220,812...51,231,761
|
|
G |
FOXI1 |
forkhead box I1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 |
OMIM ClinVar |
PMID:17503324 PMID:20621367 PMID:20809947 PMID:24860705 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 More...
|
|
NCBI chr16:53,835,350...53,839,185
Ensembl chr16:53,835,399...53,839,187
|
|
G |
KCNJ10 |
potassium inwardly rectifying channel subfamily J member 10 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 |
OMIM ClinVar |
PMID:19289823 PMID:19426954 PMID:20651251 PMID:20678478 PMID:20807765 PMID:21088294 PMID:21458570 PMID:21849804 PMID:22612257 PMID:23869231 PMID:23918157 PMID:23924083 PMID:24193250 PMID:24378235 PMID:24561201 PMID:24860705 PMID:25372295 PMID:25741868 PMID:26467025 PMID:26867573 PMID:27171548 PMID:27677466 PMID:27875746 PMID:28492532 PMID:28747464 PMID:30733538 PMID:32062759 PMID:32233732 More...
|
|
NCBI chr 4:90,421,956...90,457,406
Ensembl chr 4:90,422,025...90,457,406
|
|
G |
LMNA |
lamin A/C |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct |
ClinVar |
PMID:21465660 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26602028 PMID:28492532 More...
|
|
NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320
|
|
G |
LPIN2 |
lipin 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 |
ClinVar |
PMID:20032092 PMID:20645851 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 6:103,625,725...103,728,151
Ensembl chr 6:103,687,743...103,728,148
|
|
G |
SLC26A4 |
solute carrier family 26 member 4 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 |
OMIM ClinVar |
PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 PMID:8964290 PMID:9070918 PMID:9398842 PMID:9500541 PMID:9536098 PMID:9604973 PMID:9618166 PMID:9618167 PMID:9920104 PMID:10190331 PMID:10571950 PMID:10602116 PMID:10700480 PMID:10718825 PMID:10861298 PMID:10874637 PMID:10878664 PMID:10902795 PMID:11317356 PMID:11375792 PMID:11405873 PMID:11502831 PMID:11558900 PMID:11700190 PMID:11716048 PMID:11748854 PMID:11905055 PMID:11919333 PMID:11932316 PMID:12112665 PMID:12354788 PMID:12642503 PMID:12676893 PMID:12788906 PMID:12920581 PMID:12974744 PMID:14508505 PMID:14679580 PMID:14715652 PMID:15099345 PMID:15279074 PMID:15355436 PMID:15531480 PMID:15574297 PMID:15611902 PMID:15679828 PMID:15689455 PMID:15720248 PMID:15747138 PMID:15811013 PMID:15933521 PMID:16053392 PMID:16086271 PMID:16199547 PMID:16283880 PMID:16460646 PMID:16570074 PMID:16684826 PMID:16711435 PMID:16773579 PMID:16791000 PMID:16914891 PMID:16924389 PMID:16950989 PMID:16952406 PMID:17125574 PMID:17146393 PMID:17309986 PMID:17322586 PMID:17357124 PMID:17443271 PMID:17503324 PMID:17576681 PMID:17697873 PMID:17718863 PMID:17766716 PMID:17851929 PMID:17876604 PMID:17940114 PMID:18167283 PMID:18250610 PMID:18274916 PMID:18283249 PMID:18285825 PMID:18310264 PMID:18322141 PMID:18381613 PMID:18427006 PMID:18585793 PMID:18641518 PMID:18665027 PMID:18813951 PMID:18988928 PMID:19017801 PMID:19040761 PMID:19169484 PMID:19189692 PMID:19204907 PMID:19287372 PMID:19318451 PMID:19426954 PMID:19429184 PMID:19509082 PMID:19565036 PMID:19578036 PMID:19608655 PMID:19615760 PMID:19620588 PMID:19645628 PMID:19648736 PMID:19718752 PMID:19744334 PMID:19786220 PMID:19787632 PMID:19888295 PMID:20128824 PMID:20146813 PMID:20301640 PMID:20553101 PMID:20583162 PMID:20597900 PMID:20601923 PMID:20621367 PMID:20623167 PMID:20668687 PMID:20826203 PMID:20842945 PMID:20981092 PMID:21045265 PMID:21154317 PMID:21366435 PMID:21416585 PMID:21551164 PMID:21557232 PMID:21704276 PMID:21961810 PMID:22116358 PMID:22116359 PMID:22116360 PMID:22285650 PMID:22289209 PMID:22384008 PMID:22389666 PMID:22412181 PMID:22509691 PMID:22717225 PMID:22796198 PMID:22884721 PMID:22903915 PMID:22975760 PMID:23151025 PMID:23151031 PMID:23185506 PMID:23208854 PMID:23266159 PMID:23273637 PMID:23280318 PMID:23296490 PMID:23336812 PMID:23385134 PMID:23401162 PMID:23504402 PMID:23555729 PMID:23617710 PMID:23638949 PMID:23705809 PMID:23718755 PMID:23755160 PMID:23770805 PMID:23804846 PMID:23838540 PMID:23918157 PMID:23958391 PMID:23965030 PMID:23967202 PMID:23980138 PMID:24007330 PMID:24033266 PMID:24051746 PMID:24105851 PMID:24156272 PMID:24222258 PMID:24224479 PMID:24245694 PMID:24248179 PMID:24338212 PMID:24341454 PMID:24599119 PMID:24612839 PMID:24853665 PMID:24860705 PMID:24875928 PMID:24913939 PMID:24949729 PMID:24989646 PMID:25149764 PMID:25262649 PMID:25266519 PMID:25290043 PMID:25317404 PMID:25372295 PMID:25373420 PMID:25394566 PMID:25468468 PMID:25488846 PMID:25491636 PMID:25525159 PMID:25572613 PMID:25587757 PMID:25724631 PMID:25741868 PMID:25741914 PMID:25741916 PMID:25761933 PMID:25788563 PMID:25830873 PMID:25910213 PMID:25991456 PMID:25999548 PMID:26022370 PMID:26035154 PMID:26100058 PMID:26188157 PMID:26226137 PMID:26252218 PMID:26346818 PMID:26397989 PMID:26445815 PMID:26467025 PMID:26485571 PMID:26549381 PMID:26683941 PMID:26744121 PMID:26752218 PMID:26763877 PMID:26764160 PMID:26886069 PMID:26886089 PMID:26894580 PMID:26900070 PMID:26969326 PMID:27090054 PMID:27214836 PMID:27240500 PMID:27246798 PMID:27247933 PMID:27344577 PMID:27373559 PMID:27541434 PMID:27573290 PMID:27610647 PMID:27771369 PMID:27792752 PMID:27861301 PMID:27863619 PMID:27884173 PMID:27997596 PMID:28000701 PMID:28215547 PMID:28273078 PMID:28281779 PMID:28341401 PMID:28389359 PMID:28444304 PMID:28492532 PMID:28576516 PMID:28604962 PMID:28717060 PMID:28786104 PMID:28901477 PMID:28941661 PMID:28964290 PMID:28984810 PMID:29048421 PMID:29196752 PMID:29293505 PMID:29320412 PMID:29372807 PMID:29501320 PMID:29546359 PMID:29605365 PMID:29739340 PMID:29907799 PMID:29986705 PMID:30068397 PMID:30077349 PMID:30086623 PMID:30139988 PMID:30154845 PMID:30240412 PMID:30245029 PMID:30268946 PMID:30303587 PMID:30311386 PMID:30484383 PMID:30554688 PMID:30622556 PMID:30693673 PMID:30760291 PMID:30762455 PMID:30842343 PMID:30896630 PMID:31020658 PMID:31033086 PMID:31035178 PMID:31095577 PMID:31107121 PMID:31124793 PMID:31387071 PMID:31427586 PMID:31541171 PMID:31581539 PMID:31589614 PMID:31599023 PMID:31633822 PMID:31656273 PMID:31700827 PMID:31971949 PMID:32165640 PMID:32251972 PMID:32417962 PMID:32447495 PMID:32459320 PMID:32645618 PMID:32658404 PMID:32681043 PMID:32747562 PMID:33111345 PMID:33152970 PMID:33199029 PMID:33502066 PMID:33528103 PMID:33597575 PMID:33614372 PMID:33801843 PMID:34161886 PMID:34170635 PMID:34171171 PMID:34410491 PMID:34416374 PMID:34426522 PMID:34539567 PMID:34545167 PMID:34599368 PMID:34680964 PMID:34752165 PMID:34801268 PMID:35249537 PMID:35276235 PMID:35802133 PMID:35816303 PMID:36633841 PMID:36703223 More...
|
|
NCBI chr 9:107,365,121...107,431,065
Ensembl chr 9:107,365,814...107,431,062
|
|
|
G |
ILDR1 |
immunoglobulin like domain containing receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 42 | ClinVar Annotator: match by term: ILDR1-related condition |
OMIM ClinVar |
PMID:15641023 PMID:21255762 PMID:24033266 PMID:25668204 PMID:25741868 PMID:26226137 PMID:26467025 PMID:26969326 PMID:27610647 PMID:28492532 PMID:30303587 PMID:30311386 PMID:32747562 More...
|
|
NCBI chr13:138,530,905...138,575,483
Ensembl chr13:138,530,910...138,572,189
|
|
|
G |
ADCY1 |
adenylate cyclase 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 44 |
OMIM ClinVar |
PMID:15583425 PMID:24033266 PMID:24482543 PMID:24824130 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr18:50,043,572...50,143,549
Ensembl chr18:50,051,364...50,143,628
|
|
|
G |
CIB2 |
calcium and integrin binding family member 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 48 |
OMIM ClinVar |
PMID:23023331 PMID:24033266 PMID:25741868 PMID:26173970 PMID:26214305 PMID:26226137 PMID:26416264 PMID:26426422 PMID:26445815 PMID:28492532 PMID:28663585 PMID:29112224 PMID:30303587 PMID:30311386 PMID:34837038 More...
|
|
NCBI chr 7:47,807,806...47,813,400
Ensembl chr 7:47,788,646...47,813,399
|
|
G |
SH2D7 |
SH2 domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 48 |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:47,812,996...47,824,926
Ensembl chr 7:47,813,512...47,824,760
|
|
|
G |
MARVELD2 |
MARVEL domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 49 | ClinVar Annotator: match by term: Deafness, neurosensory, autosomal recessive 49 |
OMIM ClinVar |
PMID:16199547 PMID:17186462 PMID:18084694 PMID:22097895 PMID:23767834 PMID:23979167 PMID:24033266 PMID:25652404 PMID:25666562 PMID:25741868 PMID:25788563 PMID:25885414 PMID:26467025 PMID:28492532 PMID:30311386 PMID:31850270 PMID:32747562 PMID:33597575 More...
|
|
NCBI chr16:47,529,857...47,563,485
Ensembl chr16:47,530,068...47,563,482
|
|
|
G |
COL11A2 |
collagen type XI alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 53 |
OMIM ClinVar |
PMID:10677296 PMID:15558753 PMID:16033917 PMID:21204229 PMID:22246659 PMID:23967202 PMID:24033266 PMID:25633957 PMID:25741868 PMID:26445815 PMID:28492532 PMID:29456477 PMID:30311386 PMID:31299979 PMID:31680349 PMID:33111345 More...
|
|
NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,497...25,234,888
|
|
|
G |
PDZD7 |
PDZ domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 57 |
OMIM ClinVar |
PMID:16199547 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26416264 PMID:26849169 PMID:28492532 PMID:28802369 PMID:29048736 PMID:30622556 PMID:31454969 PMID:31827275 PMID:32048449 PMID:32050993 PMID:33724713 PMID:35802133 PMID:36633841 More...
|
|
NCBI chr14:112,088,332...112,111,348
|
|
|
G |
PJVK |
pejvakin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 59 |
OMIM ClinVar |
PMID:16804542 PMID:17301963 PMID:17329413 PMID:17373699 PMID:17718865 PMID:17718875 PMID:19888295 PMID:21696384 PMID:21935370 PMID:23804846 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27344577 PMID:28492532 PMID:30303587 PMID:30311386 PMID:32747562 PMID:35052489 More...
|
|
NCBI chr15:84,157,864...84,165,763
Ensembl chr15:84,158,639...84,165,906
|
|
G |
PRKRA |
protein activator of interferon induced protein kinase EIF2AK2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 59 |
ClinVar |
|
|
NCBI chr15:84,134,273...84,156,596
Ensembl chr15:84,133,687...84,156,508
|
|
|
G |
TMIE |
transmembrane inner ear |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 6 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 6 | ClinVar Annotator: match by term: TMIE-related condition |
OMIM ClinVar |
PMID:8593615 PMID:12145746 PMID:16389551 PMID:19438934 PMID:24033266 PMID:24416283 PMID:24875298 PMID:25741868 PMID:28492532 PMID:30303587 PMID:30311386 PMID:35710363 More...
|
|
NCBI chr13:29,623,905...29,633,016
Ensembl chr13:29,624,154...29,633,013
|
|
|
G |
SLC26A5 |
solute carrier family 26 member 5 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 61 |
OMIM ClinVar |
PMID:12239568 PMID:12719379 PMID:16086836 PMID:24033266 PMID:24164807 PMID:25262649 PMID:25741868 PMID:26467025 PMID:28492532 More...
|
|
NCBI chr 9:103,382,558...103,420,054
Ensembl chr 9:103,378,776...103,453,730
|
|
|
G |
ANAPC15 |
anaphase promoting complex subunit 15 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 63 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:25788562 PMID:26467025 PMID:28492532 |
|
NCBI chr 9:6,685,934...6,689,913
Ensembl chr 9:6,685,939...6,689,256
|
|
G |
LRRC51 |
leucine-rich repeat-containing protein 51 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 63 |
ClinVar |
PMID:24033266 PMID:25741868 |
|
NCBI chr 9:6,663,122...6,673,272
Ensembl chr 9:6,663,134...6,673,271
|
|
G |
NUMA1 |
nuclear mitotic apparatus protein 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 63 |
ClinVar |
|
|
NCBI chr 9:6,591,943...6,662,966
Ensembl chr 9:6,591,945...6,662,085
|
|
|
G |
DCDC2 |
doublecortin domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 66 |
OMIM ClinVar |
PMID:16199547 PMID:16244493 PMID:23677054 PMID:23746548 PMID:25557784 PMID:25601850 PMID:25741868 PMID:26467025 PMID:27319779 PMID:27469900 PMID:28440294 PMID:28461130 PMID:28461131 PMID:28492532 PMID:31589614 PMID:31821705 PMID:32205117 More...
|
|
NCBI chr 7:19,044,229...19,219,055
Ensembl chr 7:19,048,088...19,219,075
|
|
|
G |
LHFPL5 |
LHFPL tetraspan subfamily member 5 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 67 | ClinVar Annotator: match by term: LHFPL5-related condition |
OMIM ClinVar |
PMID:16459341 PMID:16752389 PMID:24033266 PMID:25741868 PMID:25741905 PMID:27148795 PMID:28492532 PMID:30177809 PMID:30298622 PMID:30303587 PMID:32747562 More...
|
|
NCBI chr 7:31,624,050...31,642,269
Ensembl chr 7:31,624,450...31,642,268
|
|
|
G |
S1PR2 |
sphingosine-1-phosphate receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 68 |
OMIM ClinVar |
PMID:16703383 PMID:24033266 PMID:24824130 PMID:25741868 PMID:26805784 PMID:28492532 More...
|
|
NCBI chr 2:69,050,396...69,057,270
Ensembl chr 2:69,049,270...69,057,270
|
|
|
G |
OTOA |
otoancorin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 7 |
ClinVar |
PMID:35802133 PMID:36633841 |
|
NCBI chr 3:23,570,216...23,662,948
Ensembl chr 3:23,570,382...23,662,480
|
|
G |
TECTA |
tectorin alpha |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 7 |
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...
|
|
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
|
|
G |
TMC1 |
transmembrane channel like 1 |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 | ClinVar Annotator: match by term: Deafness, autosomal recessive 7 |
OMIM ClinVar |
PMID:9536098 PMID:11850618 PMID:16134132 PMID:16199547 PMID:16287143 PMID:17576681 PMID:17877751 PMID:18414213 PMID:18616530 PMID:19187973 PMID:20373850 PMID:21117948 PMID:21250555 PMID:21252500 PMID:21917145 PMID:22105175 PMID:22607986 PMID:23208854 PMID:23767834 PMID:24033266 PMID:24416283 PMID:24875298 PMID:24949729 PMID:25491636 PMID:25741868 PMID:25741915 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28492532 PMID:29654653 PMID:30303587 PMID:31028865 PMID:31541171 PMID:31814694 PMID:31854501 PMID:32747562 PMID:33724713 PMID:34416374 PMID:34523024 More...
|
|
NCBI chr 1:225,714,601...226,111,045
Ensembl chr 1:225,929,109...226,109,469
|
|
|
G |
PNPT1 |
polyribonucleotide nucleotidyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 70 |
OMIM ClinVar |
PMID:11080643 PMID:23084290 PMID:23084291 PMID:24088041 PMID:25326635 PMID:25457163 PMID:25741868 PMID:26467025 PMID:26633545 PMID:27759031 PMID:28492532 PMID:28594066 PMID:28708278 PMID:30046113 PMID:30244537 PMID:30831263 PMID:31752325 PMID:32020600 PMID:32313153 PMID:33199448 More...
|
|
NCBI chr 3:85,595,356...85,639,665
Ensembl chr 3:85,595,392...85,639,690
|
|
|
G |
MSRB3 |
methionine sulfoxide reductase B3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 74 |
OMIM ClinVar |
PMID:19650862 PMID:21185009 PMID:25741868 PMID:30303587 |
|
NCBI chr 5:29,695,824...29,863,601
Ensembl chr 5:29,695,640...29,863,599
|
|
|
G |
SYNE4 |
spectrin repeat containing nuclear envelope family member 4 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 76 |
OMIM ClinVar |
PMID:23348741 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28958982 PMID:35802133 PMID:36633841 More...
|
|
NCBI chr 6:45,377,914...45,384,869
Ensembl chr 6:45,380,218...45,384,671
|
|
|
G |
LOXHD1 |
lipoxygenase homology PLAT domains 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 77 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16936105 PMID:17576681 PMID:19732867 PMID:21465660 PMID:22341973 PMID:22975204 PMID:23226338 PMID:23804846 PMID:23897863 PMID:24033266 PMID:25251670 PMID:25333069 PMID:25741868 PMID:25792669 PMID:25938503 PMID:26346818 PMID:26467025 PMID:26561413 PMID:26763877 PMID:26969326 PMID:26973026 PMID:27068579 PMID:27246798 PMID:27959697 PMID:27984600 PMID:28000701 PMID:28383030 PMID:28492532 PMID:29309402 PMID:29669943 PMID:29676012 PMID:29799290 PMID:29907799 PMID:30123251 PMID:30311386 PMID:31152317 PMID:31547530 PMID:31709873 PMID:31827275 PMID:32279305 PMID:32682410 PMID:32860223 PMID:33753533 PMID:33892339 PMID:34171171 PMID:35440622 PMID:35711932 PMID:35802133 PMID:36147510 PMID:36633841 More...
|
|
NCBI chr 1:96,080,751...96,287,034
Ensembl chr 1:96,080,824...96,276,992
|
|
|
G |
TMEM203 |
transmembrane protein 203 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 79 |
ClinVar |
PMID:25741868 |
|
|
|
G |
TPRN |
taperin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 79 |
OMIM ClinVar |
PMID:20170898 PMID:20170899 PMID:24033266 PMID:25741868 PMID:26969326 PMID:28492532 PMID:30303587 More...
|
|
|
|
|
G |
TMPRSS3 |
transmembrane serine protease 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 10 | ClinVar Annotator: match by term: Deafness, autosomal recessive 8 | ClinVar Annotator: match by term: TMPRSS3-related condition |
OMIM ClinVar |
PMID:3285355 PMID:9536098 PMID:11137999 PMID:11424922 PMID:11462234 PMID:11907649 PMID:12393794 PMID:12920079 PMID:15447792 PMID:16021470 PMID:16283880 PMID:16460646 PMID:16524950 PMID:17551081 PMID:17576681 PMID:19170735 PMID:21534946 PMID:21786053 PMID:22382023 PMID:22975204 PMID:23208854 PMID:23958653 PMID:23967202 PMID:24033266 PMID:24416283 PMID:24526180 PMID:24657061 PMID:24853665 PMID:25262649 PMID:25474651 PMID:25741868 PMID:25770132 PMID:26036852 PMID:26346818 PMID:26408194 PMID:26445815 PMID:26467025 PMID:26969326 PMID:27344577 PMID:28246597 PMID:28263784 PMID:28492532 PMID:28566687 PMID:28695016 PMID:28984810 PMID:29196752 PMID:29293505 PMID:29431110 PMID:29889784 PMID:30242206 PMID:30303587 PMID:30311386 PMID:30622556 PMID:31045651 PMID:31053783 PMID:31152317 PMID:31412945 PMID:31581539 PMID:31589614 PMID:31850270 PMID:31980526 PMID:32235586 PMID:32306631 PMID:32853555 PMID:32860223 PMID:34416374 PMID:34440452 PMID:34599368 PMID:34868270 PMID:35802133 PMID:35864128 PMID:36633841 More...
|
|
NCBI chr13:205,707,501...205,733,037
Ensembl chr13:205,709,663...205,732,824
|
|
|
G |
PTPRQ |
protein tyrosine phosphatase receptor type Q |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION | ClinVar Annotator: match by term: Deafness, autosomal recessive 84 |
OMIM ClinVar |
PMID:20346435 PMID:25741868 PMID:26467025 |
|
NCBI chr 5:100,787,025...101,081,145
Ensembl chr 5:100,787,027...101,033,334
|
|
|
G |
OTOGL |
otogelin like |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 84b | ClinVar Annotator: match by term: OTOGL-related condition |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23122586 PMID:23850727 PMID:24033266 PMID:25719458 PMID:25741868 PMID:26969326 PMID:28492532 PMID:30311386 PMID:35802133 PMID:36633841 More...
|
|
NCBI chr 5:101,099,525...101,318,254
Ensembl chr 5:101,100,282...101,251,884
|
|
|
G |
CCNF |
cyclin F |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 86 |
ClinVar |
PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:29358611 More...
|
|
NCBI chr 3:39,585,597...39,603,088
Ensembl chr 3:39,585,607...39,603,079
|
|
G |
TBC1D24 |
TBC1 domain family member 24 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 86 |
OMIM ClinVar |
PMID:22211675 PMID:22277662 PMID:24033266 PMID:24387994 PMID:24729539 PMID:24729547 PMID:24824130 PMID:24848745 PMID:25741868 PMID:25769375 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28726039 PMID:29358611 PMID:31216405 PMID:32004315 PMID:33619735 PMID:33986365 More...
|
|
NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277
|
|
|
G |
ELMOD3 |
ELMO domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 88 |
OMIM ClinVar |
PMID:24039609 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:59,369,816...59,401,193
Ensembl chr 3:59,369,820...59,401,151
|
|
|
G |
KARS1 |
lysyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 89 |
OMIM ClinVar |
PMID:21181198 PMID:21427441 PMID:23596069 PMID:23768514 PMID:24033266 PMID:24824130 PMID:25356970 PMID:25741868 PMID:28492532 PMID:28496994 PMID:28887846 PMID:29615062 PMID:30252186 PMID:30311386 PMID:30369941 PMID:31116475 PMID:31192300 PMID:32730690 PMID:33260297 PMID:34062854 PMID:34172899 More...
|
|
NCBI chr 6:12,057,475...12,073,749
Ensembl chr 6:12,056,571...12,073,748
|
|
|
G |
AIFM1 |
apoptosis inducing factor mitochondria associated 1 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
|
|
NCBI chr X:106,676,596...106,708,290
Ensembl chr X:106,670,520...106,708,317
|
|
G |
CEP135 |
centrosomal protein 135 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
PMID:28866084 |
|
NCBI chr 8:55,250,902...55,323,396
Ensembl chr 8:55,251,005...55,323,350
|
|
G |
DIAPH1 |
diaphanous related formin 1 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
|
|
NCBI chr 2:143,158,691...143,271,110
Ensembl chr 2:143,158,585...143,271,147
|
|
G |
IGSF6 |
immunoglobulin superfamily member 6 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 9 |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:23,673,162...23,683,256
Ensembl chr 3:23,673,148...23,683,864
|
|
G |
METTL9 |
methyltransferase 9, His-X-His N1(pi)-histidine |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 9 |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:23,670,063...23,722,242
Ensembl chr 3:23,670,063...23,722,198
|
|
G |
MT-ND6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
|
|
NCBI chr MT:14,739...15,266
Ensembl chr MT:14,739...15,266
|
|
G |
OPA1 |
OPA1 mitochondrial dynamin like GTPase |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
PMID:26467025 PMID:28492532 PMID:29952689 PMID:30201499 PMID:33884488 PMID:34242285 More...
|
|
NCBI chr13:130,624,771...130,718,345
Ensembl chr13:130,624,796...130,719,083
|
|
G |
OTOA |
otoancorin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 9 |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:23,570,216...23,662,948
Ensembl chr 3:23,570,382...23,662,480
|
|
G |
OTOF |
otoferlin |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder | ClinVar Annotator: match by term: Auditory neuropathy, autosomal recessive, 1 | ClinVar Annotator: match by term: Deafness, autosomal recessive 9 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 | ClinVar Annotator: match by term: OTOF-related condition |
OMIM ClinVar |
PMID:8789454 PMID:9536098 PMID:9657592 PMID:10192385 PMID:10878664 PMID:10903124 PMID:11483641 PMID:12114484 PMID:12127154 PMID:12525542 PMID:14635104 PMID:16097006 PMID:16199547 PMID:16226319 PMID:16283880 PMID:16371502 PMID:17036997 PMID:17512949 PMID:17576681 PMID:18381613 PMID:18804553 PMID:19250381 PMID:19461658 PMID:19636622 PMID:19888295 PMID:20146813 PMID:20211493 PMID:20224275 PMID:20230791 PMID:20301429 PMID:20504331 PMID:21117948 PMID:21216247 PMID:21557232 PMID:21935370 PMID:22575033 PMID:22607986 PMID:22906306 PMID:23208854 PMID:23562982 PMID:24001616 PMID:24033266 PMID:24053799 PMID:24746455 PMID:24814232 PMID:25262649 PMID:25326637 PMID:25525159 PMID:25741868 PMID:25741914 PMID:25788563 PMID:25991456 PMID:26186295 PMID:26188103 PMID:26434960 PMID:26445815 PMID:26467025 PMID:26632695 PMID:26763877 PMID:26818607 PMID:26969326 PMID:27018795 PMID:27068579 PMID:27082237 PMID:27177047 PMID:27621663 PMID:27652356 PMID:27657688 PMID:27729456 PMID:27766948 PMID:27821677 PMID:28075205 PMID:28335750 PMID:28492532 PMID:28766844 PMID:29048421 PMID:29196752 PMID:29293505 PMID:29362361 PMID:29484972 PMID:29752989 PMID:30065612 PMID:30096381 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30368385 PMID:30482216 PMID:31095577 PMID:31345219 PMID:31589614 PMID:31827501 PMID:31980526 PMID:32747562 PMID:32860223 PMID:32899707 PMID:32906206 PMID:33095980 PMID:33111345 PMID:33256196 PMID:33297549 PMID:33426078 PMID:33528103 PMID:33724713 PMID:33908410 PMID:34113375 PMID:34416374 PMID:34424407 PMID:34536124 PMID:34599368 PMID:34652575 PMID:35114279 PMID:35982127 More...
|
|
NCBI chr 3:112,478,188...112,581,105
Ensembl chr 3:112,478,027...112,581,104
|
|
G |
PLP1 |
proteolipid protein 1 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
|
|
NCBI chr X:84,676,627...84,683,517
Ensembl chr X:84,666,733...84,685,058
|
|
G |
RAB33A |
RAB33A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
|
|
NCBI chr X:106,708,402...106,723,803
Ensembl chr X:106,712,398...106,723,404
|
|
G |
RAB9B |
RAB9B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
|
|
NCBI chr X:84,721,269...84,733,000
Ensembl chr X:84,721,274...84,732,990
|
|
G |
RAI1 |
retinoic acid induced 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 9 |
ClinVar |
PMID:25741868 PMID:27082237 PMID:28492532 |
|
NCBI chr12:60,751,159...60,854,710
Ensembl chr12:60,755,521...60,766,058
|
|
G |
SLC17A8 |
solute carrier family 17 member 8 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
PMID:27068579 PMID:28492532 |
|
NCBI chr 5:83,741,641...83,809,472
Ensembl chr 5:83,741,715...83,800,808
|
|
G |
SLC52A2 |
solute carrier family 52 member 2 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
|
|
NCBI chr 4:421,457...429,360
Ensembl chr 4:421,474...424,384
|
|
G |
TBC1D24 |
TBC1 domain family member 24 |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
|
|
NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277
|
|
G |
TECTA |
tectorin alpha |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 9 |
ClinVar |
PMID:18381613 PMID:25008054 PMID:28492532 PMID:33111345 |
|
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
|
|
G |
TTR |
transthyretin |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 9 |
ClinVar |
PMID:14640030 PMID:15123043 PMID:15299640 PMID:15645642 PMID:17338921 PMID:17554795 PMID:21520333 PMID:21749890 PMID:22551192 PMID:24563469 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30336828 PMID:30938420 More...
|
|
NCBI chr 6:115,496,338...115,503,974
Ensembl chr 6:115,496,326...115,503,977
|
|
G |
TUBB4A |
tubulin beta 4A class IVa |
|
ISO |
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder |
ClinVar |
PMID:24706558 PMID:24850488 PMID:24974158 PMID:25168210 PMID:25356970 PMID:25741868 PMID:28492532 PMID:29451896 More...
|
|
NCBI chr 2:72,599,244...72,605,362
Ensembl chr 2:72,599,140...72,605,361
|
|
|
G |
LOC106504299 |
serpin B6 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 91 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:20451170 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More...
|
|
NCBI chr 7:1,755,252...1,776,144
Ensembl chr 7:1,752,689...1,776,087
|
|
|
G |
CABP2 |
calcium binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 93 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:22981119 PMID:24033266 PMID:25741868 PMID:26445815 PMID:28492532 PMID:30303587 More...
|
|
NCBI chr 2:5,014,888...5,020,705
Ensembl chr 2:5,014,810...5,020,775
|
|
|
G |
NARS2 |
asparaginyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 94 | ClinVar Annotator: match by term: Deafness, autosomal recessive 94 |
OMIM ClinVar |
PMID:25741868 PMID:25807530 PMID:28492532 |
|
NCBI chr 9:12,869,347...13,010,897
Ensembl chr 9:12,867,686...13,010,887
|
|
|
G |
MET |
MET proto-oncogene, receptor tyrosine kinase |
susceptibility |
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 97 |
ClinVar OMIM |
PMID:12920089 PMID:19318576 PMID:19723643 PMID:20139696 PMID:21774103 PMID:21904579 PMID:21970370 PMID:22703879 PMID:24728327 PMID:25741868 PMID:25941349 PMID:26467025 PMID:26700204 PMID:26887047 PMID:27696107 PMID:28259294 PMID:28492532 PMID:28873162 PMID:29219214 PMID:29641532 PMID:29684080 PMID:30093976 PMID:32091409 PMID:33606809 PMID:35264596 More...
|
|
NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512
|
|
|
G |
TSPEAR |
thrombospondin type laminin G domain and EAR repeats |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 98 |
OMIM ClinVar |
PMID:22678063 PMID:24033266 PMID:25741868 PMID:25855803 PMID:26467025 PMID:27736875 PMID:28492532 PMID:29144512 PMID:30046887 PMID:34042254 More...
|
|
NCBI chr13:207,285,878...207,412,523
Ensembl chr13:207,285,886...207,412,511
|
|
|
G |
TMEM132E |
transmembrane protein 132E |
|
ISO |
ClinVar Annotator: match by term: Deafness, autosomal recessive 99 |
OMIM ClinVar |
PMID:12673573 PMID:25331638 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31656313 More...
|
|
NCBI chr12:40,480,535...40,535,004
Ensembl chr12:40,481,784...40,494,148
|
|
|
G |
SLC9A1 |
solute carrier family 9 member A1 |
|
ISO |
ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome |
OMIM ClinVar |
PMID:25205112 PMID:25741868 PMID:28492532 PMID:30018422 |
|
NCBI chr 6:84,373,921...84,426,447
Ensembl chr 6:84,372,649...84,426,997
|
|
|
G |
MT-CO1 |
mitochondrially encoded cytochrome c oxidase I |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055
|
|
G |
MT-ND1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, sensorineural, autosomal-mitochondrial type |
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: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...
|
|
NCBI chr MT:3,922...4,876
Ensembl chr MT:3,922...4,876
|
|
|
G |
MAF |
MAF bZIP transcription factor |
|
ISO |
ClinVar Annotator: match by term: Ayme-Gripp syndrome | ClinVar Annotator: match by term: Ayme-gripp syndrome |
OMIM ClinVar |
PMID:8834052 PMID:8867660 PMID:12072800 PMID:17935251 PMID:25064449 PMID:25741868 PMID:25865493 PMID:28492532 PMID:30659945 PMID:34217267 PMID:38177409 More...
|
|
NCBI chr 6:8,468,736...8,910,012
Ensembl chr 6:8,468,413...8,485,030
|
|
|
G |
GJB2 |
gap junction protein beta 2 |
|
ISO |
ClinVar Annotator: match by term: Bart-Pumphrey syndrome |
OMIM ClinVar |
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 PMID:2956987 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID: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:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12673800 PMID:12684873 PMID:12746422 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14643477 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15482471 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15617546 PMID:15617550 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15790391 PMID:15832357 PMID:15855033 PMID:15937416 PMID:15952212 PMID:15954104 PMID:15964725 PMID:15967879 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16154643 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17106596 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17431919 PMID:17444514 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17576681 PMID:17581693 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18196482 PMID:18294064 PMID:18324688 PMID:18414213 PMID:18451998 PMID:18560174 PMID:18570691 PMID:18668259 PMID:18684989 PMID:18758381 PMID:18776652 PMID:18804553 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19465004 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19719946 PMID:19723508 PMID:19775242 PMID:19814620 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20441744 PMID:20497192 PMID:20553101 PMID:20563649 PMID:20593197 PMID:20607074 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 PMID:20956747 PMID:20981092 PMID:21094084 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21298213 PMID:21298644 PMID:21366436 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21738759 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21836520 PMID:21844220 PMID:21910243 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22037723 PMID:22106692 PMID:22281373 PMID:22384008 PMID:22429511 PMID:22450542 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22574200 PMID:22592158 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23039283 PMID:23073770 PMID:23141775 PMID:23328711 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23695287 PMID:23757202 PMID:23804846 PMID:23826813 PMID:23873582 PMID:23900770 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 PMID:24507663 PMID:24529908 PMID:24551843 PMID:24611097 PMID:24645897 PMID:24654934 PMID:24737404 PMID:24762805 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25365227 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25587757 PMID:25625422 PMID:25628337 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25741895 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26482070 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 PMID:27398341 PMID:27481527 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884957 PMID:28008688 PMID:28012523 PMID:28222800 PMID:28271504 PMID:28383030 PMID:28428247 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28651654 PMID:28704896 PMID:28900111 PMID:29062245 PMID:29106882 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29625052 PMID:29773520 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30086704 PMID:30094485 PMID:30146550 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30565282 PMID:30589569 PMID:30693673 PMID:30828346 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31195736 PMID:31346875 PMID:31370293 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31827275 PMID:31980526 PMID:31992338 PMID:32090102 PMID:32258544 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33187236 PMID:33333757 PMID:33524517 PMID:33597575 PMID:33614373 PMID:33928925 PMID:34062854 PMID:34335733 PMID:34440441 PMID:34515852 PMID:34652575 PMID:35016843 PMID:35396755 PMID:35864128 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 More...
|
|
NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
|
|
|
G |
BSND |
barttin CLCNK type accessory subunit beta |
|
ISO |
ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Bartter disease type 4A |
OMIM ClinVar |
PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 PMID:16199547 PMID:16328537 PMID:16572343 PMID:16583241 PMID:16773427 PMID:16935888 PMID:17954364 PMID:18776122 PMID:19025784 PMID:19096086 PMID:19646679 PMID:21269598 PMID:21541222 PMID:21865213 PMID:23967202 PMID:24033266 PMID:24828792 PMID:24902942 PMID:24949729 PMID:25741868 PMID:26467025 PMID:26537508 PMID:26857709 PMID:28012523 PMID:28492532 PMID:28555110 PMID:29254190 PMID:29942493 PMID:29986705 PMID:30174009 PMID:30303587 PMID:30311386 PMID:30733538 PMID:32608139 PMID:33348466 PMID:35628451 PMID:35709690 More...
|
|
NCBI chr 6:157,424,389...157,432,571
Ensembl chr 6:157,425,878...157,432,580
|
|
|
G |
CLCNK |
chloride voltage-gated channel K |
|
ISO |
ClinVar Annotator: match by term: Bartter disease type 4B |
OMIM ClinVar |
PMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 6:75,178,914...75,192,670
|
|
|
G |
OPA1 |
OPA1 mitochondrial dynamin like GTPase |
|
ISO |
ClinVar Annotator: match by term: Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss | ClinVar Annotator: match by term: Optic atrophy, infantile hereditary, Behr complicated form of |
ClinVar OMIM |
PMID:9490303 PMID:9536098 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 PMID:11810270 PMID:12036970 PMID:14961560 PMID:15505825 PMID:16513463 PMID:17576681 PMID:17722006 PMID:18222991 PMID:18496845 PMID:19303950 PMID:19319978 PMID:19900585 PMID:20157015 PMID:20417568 PMID:20417570 PMID:20659957 PMID:20801516 PMID:20952381 PMID:21036400 PMID:21636302 PMID:21646330 PMID:22042570 PMID:22857269 PMID:23250881 PMID:23388408 PMID:23401657 PMID:24907432 PMID:24970096 PMID:25012220 PMID:25146915 PMID:25146916 PMID:25641387 PMID:25741868 PMID:25794858 PMID:26206283 PMID:26385429 PMID:26455272 PMID:26467025 PMID:26561570 PMID:27165006 PMID:27290639 PMID:27696015 PMID:27890673 PMID:28378518 PMID:28492532 PMID:28494813 PMID:28812649 PMID:30293569 PMID:30972688 PMID:31521625 PMID:31782039 PMID:32025183 PMID:32040484 PMID:32202296 PMID:32371413 PMID:32379273 PMID:32420686 PMID:33546218 PMID:33841295 PMID:33884488 PMID:34242285 PMID:34426522 PMID:34732400 PMID:35741767 PMID:37196654 More...
|
|
NCBI chr13:130,624,771...130,718,345
Ensembl chr13:130,624,796...130,719,083
|
|
|
G |
MYO3A |
myosin IIIA |
|
ISO |
DFNB30, OMIM:607101, DNA:point mutation:exon:Y1043X |
RGD |
PMID:12032315 |
RGD:1600555 |
NCBI chr10:49,392,119...49,623,575
|
|
G |
NEFH |
neurofilament heavy chain |
disease_progression |
ISO |
|
RGD |
PMID:27457532 |
RGD:27372873 |
NCBI chr14:46,559,698...46,568,686
Ensembl chr14:46,559,860...46,568,088
|
|
G |
SLC26A4 |
solute carrier family 26 member 4 |
|
ISO |
associated with Enlarged Vestibular Aqueduct;DNA:missense mutation:cds:p.V138L (human) |
RGD |
PMID:19645628 |
RGD:7411669 |
NCBI chr 9:107,365,121...107,431,065
Ensembl chr 9:107,365,814...107,431,062
|
|
|
G |
BCS1L |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
|
ISO |
ClinVar Annotator: match by term: Bjornstad syndrome with mild mitochondrial complex III deficiency | ClinVar Annotator: match by term: Pili torti-deafness syndrome |
OMIM ClinVar |
PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 PMID:17314340 PMID:17403714 PMID:18386115 PMID:18771761 PMID:19162478 PMID:19389488 PMID:19508421 PMID:20518024 PMID:20727375 PMID:21274865 PMID:22277166 PMID:22277967 PMID:23892085 PMID:24033266 PMID:24172246 PMID:24236502 PMID:24655110 PMID:24704045 PMID:25741868 PMID:25895478 PMID:25914718 PMID:25954003 PMID:26467025 PMID:27618451 PMID:27959697 PMID:28105683 PMID:28322498 PMID:28427446 PMID:28490743 PMID:28492532 PMID:29090881 PMID:30582773 PMID:30634555 PMID:31316545 PMID:31435670 PMID:32581362 PMID:34650211 PMID:34662929 More...
|
|
NCBI chr15:120,707,770...120,711,794
Ensembl chr15:120,707,814...120,711,793
|
|
|
G |
KMT2D |
lysine methyltransferase 2D |
|
ISO |
ClinVar Annotator: match by term: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome | ClinVar Annotator: match by term: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome |
OMIM ClinVar |
PMID:12002153 PMID:25590979 PMID:25741868 PMID:28492532 PMID:31949313 PMID:32083401 More...
|
|
NCBI chr 5:15,049,827...15,091,622
|
|
|
G |
SLC52A2 |
solute carrier family 52 member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 4:421,457...429,360
Ensembl chr 4:421,474...424,384
|
|
G |
SLC52A3 |
solute carrier family 52 member 3 |
|
ISO |
ClinVar Annotator: match by term: Pontobulbar palsy and neurosensory deafness |
ClinVar |
PMID:22718020 PMID:24033266 PMID:25741868 PMID:26072523 PMID:27702554 PMID:28492532 PMID:29501408 PMID:33189404 PMID:33325104 PMID:34426522 PMID:34662687 More...
|
|
NCBI chr17:34,459,291...34,481,022
Ensembl chr17:34,459,359...34,481,026
|
|
|
G |
CSNK2A1 |
casein kinase 2 alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 |
ClinVar |
PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 |
|
NCBI chr17:34,692,960...34,748,067
|
|
G |
RBCK1 |
RANBP2-type and C3HC4-type zinc finger containing 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 |
ClinVar |
PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 |
|
NCBI chr17:34,784,018...34,801,228
Ensembl chr17:34,784,016...34,801,230
|
|
G |
SCRT2 |
scratch family transcriptional repressor 2 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 |
ClinVar |
PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 |
|
NCBI chr17:34,558,247...34,570,434
Ensembl chr17:34,558,048...34,571,168
|
|
G |
SLC52A2 |
solute carrier family 52 member 2 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 |
ClinVar |
PMID:24253200 PMID:25741868 PMID:27148561 PMID:28492532 |
|
NCBI chr 4:421,457...429,360
Ensembl chr 4:421,474...424,384
|
|
G |
SLC52A3 |
solute carrier family 52 member 3 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 |
OMIM ClinVar |
PMID:2020633 PMID:9536098 PMID:16122634 PMID:16199547 PMID:17576681 PMID:20206331 PMID:20920669 PMID:21110228 PMID:21512156 PMID:22273710 PMID:22633641 PMID:22718020 PMID:22740598 PMID:22824638 PMID:23107375 PMID:23688382 PMID:24033266 PMID:24239381 PMID:25462087 PMID:25741868 PMID:26072523 PMID:26443808 PMID:27702554 PMID:27777325 PMID:28251916 PMID:28492532 PMID:28856173 PMID:29053833 PMID:29501408 PMID:29950502 PMID:29961494 PMID:32579787 PMID:33189404 PMID:33325104 PMID:34395718 PMID:34426522 PMID:34662687 More...
|
|
NCBI chr17:34,459,291...34,481,022
Ensembl chr17:34,459,359...34,481,026
|
|
G |
SRXN1 |
sulfiredoxin 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 |
ClinVar |
PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 |
|
NCBI chr17:34,582,377...34,589,308
Ensembl chr17:34,582,440...34,589,300
|
|
G |
TBC1D20 |
TBC1 domain family member 20 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 |
ClinVar |
PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 |
|
NCBI chr17:34,760,379...34,778,301
Ensembl chr17:34,760,347...34,779,701
|
|
G |
TCF15 |
transcription factor 15 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 |
ClinVar |
PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 |
|
NCBI chr17:34,626,682...34,632,881
Ensembl chr17:34,626,670...34,633,263
|
|
|
G |
ADCK5 |
aarF domain containing kinase 5 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:393,720...410,582
Ensembl chr 4:393,728...410,559
|
|
G |
BOP1 |
BOP1 ribosomal biogenesis factor |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:486,562...507,141
Ensembl chr 4:475,426...507,138
|
|
G |
CCDC166 |
coiled-coil domain containing 166 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:920,432...924,051
Ensembl chr 4:920,749...923,197
|
|
G |
CPSF1 |
cleavage and polyadenylation specific factor 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:382,887...393,732
|
|
G |
CYC1 |
cytochrome c1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:606,510...608,991
Ensembl chr 4:606,516...608,996
|
|
G |
DGAT1 |
diacylglycerol O-acyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:452,890...463,665
Ensembl chr 4:452,662...466,684
|
|
G |
EEF1D |
eukaryotic translation elongation factor 1 delta |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:969,532...982,250
Ensembl chr 4:969,527...983,270
|
|
G |
EPPK1 |
epiplakin 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:780,276...798,760
Ensembl chr 4:785,029...798,563
|
|
G |
EXOSC4 |
exosome component 4 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:618,993...621,336
Ensembl chr 4:618,990...621,342
|
|
G |
FAM83H |
family with sequence similarity 83 member H |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:887,472...907,523
Ensembl chr 4:892,041...907,517
|
|
G |
FBXL6 |
F-box and leucine rich repeat protein 6 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:424,433...427,799
Ensembl chr 4:424,508...427,799
|
|
G |
FOXH1 |
forkhead box H1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:320,610...324,570
Ensembl chr 4:322,838...324,481
|
|
G |
GFUS |
GDP-L-fucose synthase |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:950,947...955,865
Ensembl chr 4:949,867...959,744
|
|
G |
GLI4 |
GLI family zinc finger 4 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:1,195,414...1,222,456
Ensembl chr 4:1,215,075...1,235,163
|
|
G |
GPAA1 |
glycosylphosphatidylinositol anchor attachment 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:614,596...618,274
Ensembl chr 4:614,601...618,241
|
|
G |
GPIHBP1 |
glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:1,253,401...1,256,921
Ensembl chr 4:1,254,565...1,256,577
|
|
G |
GRINA |
glutamate ionotropic receptor NMDA type subunit associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:682,823...686,144
Ensembl chr 4:682,835...686,116
|
|
G |
GSDMD |
gasdermin D |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:995,753...1,001,964
Ensembl chr 4:995,763...1,000,271
|
|
G |
HGH1 |
HGH1 homolog |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:581,751...585,029
Ensembl chr 4:581,758...585,035
|
|
G |
HSF1 |
heat shock transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:463,531...486,483
Ensembl chr 4:463,393...486,473
|
|
G |
KIFC2 |
kinesin family member C2 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:324,623...332,221
Ensembl chr 4:324,626...331,917
|
|
G |
LOC100152459 |
cysteine and histidine-rich protein 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:335,139...348,472
Ensembl chr 4:335,301...346,534
|
|
G |
MAF1 |
MAF1 homolog, negative regulator of RNA polymerase III |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:597,410...600,520
Ensembl chr 4:597,472...600,447
|
|
G |
MAFA |
MAF bZIP transcription factor A |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:1,090,018...1,093,600
Ensembl chr 4:1,091,263...1,092,818
|
|
G |
MAPK15 |
mitogen-activated protein kinase 15 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:909,266...915,537
Ensembl chr 4:909,268...915,475
|
|
G |
MROH1 |
maestro heat like repeat family member 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:507,223...577,859
Ensembl chr 4:507,228...577,132
|
|
G |
MROH6 |
maestro heat like repeat family member 6 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:988,367...994,613
Ensembl chr 4:988,185...993,815
|
|
G |
NAPRT |
nicotinate phosphoribosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:983,428...986,750
Ensembl chr 4:983,423...986,748
|
|
G |
NRBP2 |
nuclear receptor binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:800,722...808,031
Ensembl chr 4:800,063...807,174
|
|
G |
OPLAH |
5-oxoprolinase, ATP-hydrolysing |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:629,901...639,420
Ensembl chr 4:629,870...639,406
|
|
G |
PARP10 |
poly(ADP-ribose) polymerase family member 10 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:688,511...695,808
|
|
G |
PLEC |
plectin |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:696,355...753,859
Ensembl chr 4:689,034...753,696
|
|
G |
PUF60 |
poly(U) binding splicing factor 60 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:812,137...824,321
Ensembl chr 4:812,131...824,318
|
|
G |
PYCR3 |
pyrroline-5-carboxylate reductase 3 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:959,709...964,195
Ensembl chr 4:959,710...964,192
|
|
G |
RHPN1 |
rhophilin Rho GTPase binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:1,123,098...1,133,030
Ensembl chr 4:1,123,105...1,132,966
|
|
G |
SCRIB |
scribble planar cell polarity protein |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:824,925...852,360
Ensembl chr 4:825,062...852,664
|
|
G |
SCRT1 |
scratch family transcriptional repressor 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:443,100...449,113
Ensembl chr 4:443,311...447,677
|
|
G |
SCX |
scleraxis bHLH transcription factor |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:500,884...503,276
Ensembl chr 4:500,526...503,193
|
|
G |
SHARPIN |
SHANK associated RH domain interactor |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:600,698...605,711
Ensembl chr 4:600,698...605,701
|
|
G |
SLC39A4 |
solute carrier family 39 member 4 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:372,681...378,519
Ensembl chr 4:372,660...378,516
|
|
G |
SLC52A2 |
solute carrier family 52 member 2 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 | ClinVar Annotator: match by term: Riboflavin transporter deficiency type 2 |
OMIM ClinVar |
PMID:9536098 PMID:10797435 PMID:16199547 PMID:17576681 PMID:20301336 PMID:20447487 PMID:21109228 PMID:22740598 PMID:22824638 PMID:22864630 PMID:23107375 PMID:23243084 PMID:23289980 PMID:24033266 PMID:24253200 PMID:24616084 PMID:25133958 PMID:25356970 PMID:25741868 PMID:25798182 PMID:25807286 PMID:26633542 PMID:26669662 PMID:27148561 PMID:27518768 PMID:28116953 PMID:28251916 PMID:28492532 PMID:28781516 PMID:28824526 PMID:29053833 PMID:29287867 PMID:29858556 PMID:29913018 PMID:29915382 PMID:29961509 PMID:30343981 PMID:30377535 PMID:31064337 PMID:31152317 PMID:32827528 PMID:33036493 PMID:33201363 PMID:33258288 PMID:34428344 PMID:34602496 More...
|
|
NCBI chr 4:421,457...429,360
Ensembl chr 4:421,474...424,384
|
|
G |
SPATC1 |
spermatogenesis and centriole associated 1 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:642,962...665,330
Ensembl chr 4:643,094...664,649
|
|
G |
TIGD5 |
tigger transposable element derived 5 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:964,727...969,391
Ensembl chr 4:967,370...969,283
|
|
G |
TMEM249 |
transmembrane protein 249 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:428,339...430,393
Ensembl chr 4:428,535...431,282
|
|
G |
TONSL |
tonsoku like, DNA repair protein |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:349,992...361,749
Ensembl chr 4:350,060...362,167
|
|
G |
TOP1MT |
DNA topoisomerase I mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:1,134,179...1,188,149
Ensembl chr 4:1,148,890...1,188,130
|
|
G |
VPS28 |
VPS28 subunit of ESCRT-I |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:362,902...368,038
Ensembl chr 4:362,912...370,588
|
|
G |
ZC3H3 |
zinc finger CCCH-type containing 3 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:1,009,927...1,084,133
Ensembl chr 4:1,010,638...1,089,738
|
|
G |
ZNF623 |
zinc finger protein 623 |
|
ISO |
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 |
ClinVar |
PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 PMID:28492532 PMID:28824526 More...
|
|
NCBI chr 4:928,786...950,917
Ensembl chr 4:928,798...940,679
|
|
|
G |
ADNP2 |
ADNP homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr 6:128,071,503...128,113,292
Ensembl chr 6:128,030,715...128,113,288
|
|
G |
ATP9B |
ATPase phospholipid transporting 9B (putative) |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr 1:146,022,975...146,228,847
Ensembl chr 1:146,022,978...146,221,769
|
|
G |
CTDP1 |
CTD phosphatase subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr 1:145,769,763...145,811,673
Ensembl chr 1:145,769,771...145,811,678
|
|
G |
GALR1 |
galanin receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr 1:147,442,977...147,466,731
Ensembl chr 1:147,443,821...147,463,542
|
|
G |
HSBP1L1 |
heat shock factor binding protein 1 like 1 |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr 6:127,960,330...127,972,241
Ensembl chr 6:127,960,266...127,973,191
|
|
G |
KCNG2 |
potassium voltage-gated channel modifier subfamily G member 2 |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr 6:127,830,032...127,891,294
Ensembl chr 6:127,866,238...127,891,916
|
|
G |
MBP |
myelin basic protein |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr 1:147,649,516...147,685,289
Ensembl chr 1:147,590,865...147,685,290
|
|
G |
NFATC1 |
nuclear factor of activated T cells 1 |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr 1:145,940,099...146,002,897
Ensembl chr 1:145,911,046...146,008,139
|
|
G |
PARD6G |
par-6 family cell polarity regulator gamma |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr 6:128,161,610...128,250,708
Ensembl chr 6:128,162,600...128,250,663
|
|
G |
RBFA |
ribosome binding factor A |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr 6:128,030,397...128,048,061
Ensembl chr 6:128,030,723...128,053,494
|
|
G |
SALL3 |
spalt like transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr 1:146,251,591...146,273,778
Ensembl chr 1:146,252,155...146,273,906
|
|
G |
SLC66A2 |
solute carrier family 66 member 2 |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr 6:127,894,111...127,952,268
Ensembl chr 6:127,894,111...127,952,225
|
|
G |
TXNL4A |
thioredoxin like 4A |
|
ISO |
ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome |
OMIM ClinVar |
PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 PMID:28492532 PMID:34713892 More...
|
|
NCBI chr 6:127,975,164...127,991,112
Ensembl chr 6:127,974,543...127,991,177
|
|
G |
ZNF236 |
zinc finger protein 236 |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr 1:147,690,545...147,782,162
Ensembl chr 1:147,690,556...147,782,129
|
|
G |
ZNF516 |
zinc finger protein 516 |
|
ISO |
ClinVar Annotator: match by term: Burn-McKeown syndrome |
ClinVar |
PMID:25434003 |
|
NCBI chr 1:147,987,660...148,100,788
Ensembl chr 1:147,984,481...148,087,719
|
|
|
G |
FGFR3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Camptodactyly, tall stature, and hearing loss syndrome | ClinVar Annotator: match by term: Camptodactyly-tall stature-scoliosis-hearing loss syndrome |
OMIM ClinVar |
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589699 PMID:8640234 PMID:8673103 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9438390 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11879084 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16199547 PMID:16766665 PMID:16841094 PMID:17033969 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:23056398 PMID:24728327 PMID:24864036 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25741914 PMID:25741916 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:27139183 PMID:28230213 PMID:28252636 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29681095 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 More...
|
|
NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964
|
|
|
G |
ATP1A3 |
ATPase Na+/K+ transporting subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss |
OMIM ClinVar |
PMID:8733056 PMID:15260953 PMID:18414213 PMID:18675996 PMID:19652145 PMID:20301294 PMID:20576601 PMID:21911500 PMID:22842232 PMID:22850527 PMID:22924536 PMID:23409136 PMID:23483595 PMID:24100174 PMID:24431296 PMID:24468074 PMID:24523486 PMID:24631656 PMID:24793181 PMID:24842602 PMID:24996492 PMID:25056583 PMID:25326637 PMID:25447930 PMID:25523819 PMID:25681536 PMID:25741868 PMID:25895915 PMID:25944380 PMID:25996915 PMID:26400718 PMID:26410222 PMID:26417536 PMID:26453127 PMID:26467025 PMID:26633545 PMID:26993267 PMID:27268479 PMID:27634470 PMID:27726050 PMID:28293679 PMID:28441826 PMID:28492532 PMID:28500446 PMID:28637637 PMID:28647130 PMID:28708303 PMID:28849312 PMID:28901192 PMID:29066118 PMID:29305691 PMID:29397530 PMID:30071271 PMID:30577886 PMID:30657467 PMID:31361359 PMID:31737037 PMID:32581362 PMID:34008892 PMID:34342181 PMID:34459253 PMID:35047275 PMID:36192182 More...
|
|
NCBI chr 6:49,905,851...49,927,437
Ensembl chr 6:49,905,847...49,927,633
|
|
|
G |
IARS2 |
isoleucyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia |
OMIM ClinVar |
PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 PMID:30041933 PMID:30419932 More...
|
|
NCBI chr10:9,685,641...9,739,816
Ensembl chr10:9,685,678...9,737,159
|
|
|
G |
DKC1 |
dyskerin pseudouridine synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 |
ClinVar OMIM |
PMID:32554502 |
|
NCBI chr X:125,218,928...125,228,881
Ensembl chr X:125,218,923...125,229,525
|
|
|
G |
NOP10 |
NOP10 ribonucleoprotein |
|
ISO |
ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 |
ClinVar OMIM |
PMID:32554502 |
|
NCBI chr 7:80,161,024...80,162,299
Ensembl chr 7:80,161,096...80,164,328
|
|
|
G |
GJB1 |
gap junction protein beta 1 |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS WITH CHARCOT-MARIE-TOOTH DISEASE |
ClinVar |
PMID:12402337 PMID:15241803 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr X:57,241,990...57,249,496
Ensembl chr X:57,242,045...57,249,885
|
|
G |
PMP22 |
peripheral myelin protein 22 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease and deafness | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1E |
OMIM ClinVar |
PMID:7139106 PMID:7829101 PMID:8995589 PMID:9324088 PMID:9544841 PMID:10211478 PMID:10330345 PMID:11545686 PMID:11835375 PMID:11920834 PMID:12578939 PMID:12796555 PMID:15474367 PMID:19067730 PMID:20301384 PMID:20453308 PMID:23279344 PMID:25400662 PMID:25741868 PMID:26392352 PMID:26467025 PMID:28374912 PMID:28492532 PMID:28600779 PMID:32719652 PMID:34332267 More...
|
|
NCBI chr12:58,679,773...58,734,195
Ensembl chr12:58,679,775...58,707,925
|
|
|
G |
MPZ |
myelin protein zero |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities |
OMIM ClinVar |
PMID:8664899 PMID:8816708 PMID:9187667 PMID:9452091 PMID:10071056 PMID:10329755 PMID:10764043 PMID:10835936 PMID:10923043 PMID:11080237 PMID:11545686 PMID:12207153 PMID:12402337 PMID:12805115 PMID:12845552 PMID:12911457 PMID:12948789 PMID:14711881 PMID:15004559 PMID:15159512 PMID:15241803 PMID:15326256 PMID:15377707 PMID:16279991 PMID:16775239 PMID:17663472 PMID:18337304 PMID:19629567 PMID:19928689 PMID:20461396 PMID:22433810 PMID:25614874 PMID:25720167 PMID:25741868 PMID:26234237 PMID:26310628 PMID:26467025 PMID:28492532 PMID:29465609 PMID:29687021 PMID:31211173 PMID:31827005 PMID:33179255 More...
|
|
NCBI chr 4:89,174,107...89,179,556
Ensembl chr 4:89,169,311...89,179,925
|
|
|
G |
AIFM1 |
apoptosis inducing factor mitochondria associated 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation |
OMIM ClinVar |
PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 PMID:20818383 PMID:22019070 PMID:23217327 PMID:23806086 PMID:24002164 PMID:24088041 PMID:25583628 PMID:25590979 PMID:25741868 PMID:25934856 PMID:25986071 PMID:26173962 PMID:26257172 PMID:27102849 PMID:28492532 PMID:28842795 PMID:28967629 PMID:31523922 More...
|
|
NCBI chr X:106,676,596...106,708,290
Ensembl chr X:106,670,520...106,708,317
|
|
G |
RAB33A |
RAB33A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation |
ClinVar |
PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 PMID:20818383 PMID:22019070 PMID:23217327 PMID:23806086 PMID:24002164 PMID:24088041 PMID:25583628 PMID:25590979 PMID:25741868 PMID:25934856 PMID:25986071 PMID:26173962 PMID:26257172 PMID:27102849 PMID:28492532 PMID:28842795 PMID:28967629 PMID:31523922 More...
|
|
NCBI chr X:106,708,402...106,723,803
Ensembl chr X:106,712,398...106,723,404
|
|
|
G |
PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: Familial opticoacoustic nerve degeneration and polyneuropathy | ClinVar Annotator: match by term: Optic atrophy, neural deafness, and distal neurogenic amyotrophy |
OMIM ClinVar |
PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 PMID:25182139 PMID:25491489 PMID:25741868 PMID:28492532 PMID:32781272 PMID:33493137 More...
|
|
NCBI chr X:88,074,861...88,101,925
Ensembl chr X:88,074,965...88,101,910
|
|
|
G |
PIGL |
phosphatidylinositol glycan anchor biosynthesis class L |
|
ISO |
ClinVar Annotator: match by term: CHIME syndrome | ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5 | ClinVar Annotator: match by term: Zunich neuroectodermal syndrome |
OMIM ClinVar |
PMID:3041916 PMID:7666399 PMID:8893234 PMID:16199547 PMID:18414213 PMID:22444671 PMID:23561846 PMID:24784135 PMID:25250048 PMID:25741868 PMID:28327575 PMID:28371479 PMID:28492532 PMID:29473937 PMID:30023290 PMID:31535386 More...
|
|
NCBI chr12:59,217,267...59,256,896
Ensembl chr12:59,201,556...59,256,829
|
|
|
G |
CLCC1 |
chloride channel CLIC like 1 |
|
ISO |
ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: Deafness, autosomal recessive 82 | ClinVar Annotator: match by term: Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 4:111,080,648...111,101,007
Ensembl chr 4:111,080,682...111,101,303
|
|
G |
GPSM2 |
G protein signaling modulator 2 |
|
ISO |
ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: Deafness, autosomal recessive 82 | ClinVar Annotator: match by term: Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction |
OMIM ClinVar |
PMID:10449658 PMID:20602914 PMID:21348867 PMID:22578326 PMID:22987632 PMID:23208854 PMID:23494849 PMID:24033266 PMID:25741868 PMID:26445815 PMID:26467025 PMID:27312216 PMID:28492532 PMID:32747562 More...
|
|
NCBI chr 4:111,100,912...111,165,902
Ensembl chr 4:111,102,396...111,165,886
|
|
|
G |
MITF |
melanocyte inducing transcription factor |
susceptibility |
ISO |
ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness |
ClinVar OMIM |
PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27889061 PMID:28492532 PMID:30311386 PMID:34599368 More...
|
|
NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,093
|
|
|
G |
DNAJC3 |
DnaJ heat shock protein family (Hsp40) member C3 |
|
ISO |
ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus |
OMIM ClinVar |
PMID:25466870 PMID:25741868 PMID:28940199 PMID:32738013 PMID:33486469 |
|
NCBI chr11:65,230,145...65,299,084
Ensembl chr11:65,230,162...65,303,834
|
|
G |
DNAJC6 |
DnaJ heat shock protein family (Hsp40) member C6 |
|
ISO |
ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus |
ClinVar |
PMID:2256350 PMID:22563501 PMID:24220513 PMID:32214227 PMID:33983693 |
|
NCBI chr 6:146,990,115...147,161,010
Ensembl chr 6:146,989,351...147,155,131
|
|
G |
MAFA |
MAF bZIP transcription factor A |
|
ISO |
ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:1,090,018...1,093,600
Ensembl chr 4:1,091,263...1,092,818
|
|
|
G |
LHX3 |
LIM homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: LHX3-related condition | ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome |
OMIM ClinVar |
PMID:10835633 PMID:12780757 PMID:16199547 PMID:16394081 PMID:16940453 PMID:17327381 PMID:17438671 PMID:18407919 PMID:19837867 PMID:21249393 PMID:22286346 PMID:25741868 PMID:28492532 PMID:29261175 PMID:30262920 PMID:32870266 More...
|
|
|
|
|
G |
EYA1 |
EYA transcriptional coactivator and phosphatase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10471511 |
|
NCBI chr 4:63,970,939...64,328,107
Ensembl chr 4:63,970,807...64,328,105
|
|
G |
NOG |
noggin |
|
ISO |
|
RGD |
PMID:18096605 |
RGD:12801451 |
NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206
|
|
G |
TBX1 |
T-box transcription factor 1 |
|
ISO |
DNA:missense mutation:CDS:p.W118R (mouse) |
RGD |
PMID:28105375 |
RGD:155663349 |
NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
|
|
|
G |
CEP78 |
centrosomal protein 78 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss |
ClinVar |
PMID:25741868 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
|
|
|
G |
CEP78 |
centrosomal protein 78 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 1 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 PMID:31999394 PMID:32531858 PMID:34259627 More...
|
|
NCBI chr 1:231,081,157...231,113,065
Ensembl chr 1:231,081,196...231,115,940
|
|
|
G |
CEP250 |
centrosomal protein 250 |
|
ISO |
ClinVar Annotator: match by term: CEP250-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 2 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:24780881 PMID:25741868 PMID:28492532 PMID:29718797 PMID:30459346 PMID:30998843 More...
|
|
NCBI chr17:38,809,724...38,872,796
Ensembl chr17:38,810,522...38,867,203
|
|
|
G |
SLC33A1 |
solute carrier family 33 member 1 |
|
ISO |
ClinVar Annotator: match by term: Huppke-Brendel syndrome |
OMIM ClinVar |
PMID:15902551 PMID:22243965 PMID:22508683 PMID:25741868 PMID:27306358 PMID:28492532 PMID:31194315 PMID:35999711 More...
|
|
NCBI chr13:95,690,453...95,724,239
Ensembl chr13:95,658,530...95,724,156
|
|
|
G |
FGF3 |
fibroblast growth factor 3 |
|
ISO |
ClinVar Annotator: match by term: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia | ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM) |
OMIM ClinVar |
PMID:17236138 PMID:18435799 PMID:19950373 PMID:21306635 PMID:21480479 PMID:22993869 PMID:25741868 PMID:28492532 PMID:31336982 PMID:33187236 More...
|
|
NCBI chr 2:3,489,208...3,496,532
Ensembl chr 2:3,489,009...3,497,533
|
|
|
G |
SPTBN4 |
spectrin beta, non-erythrocytic 4 |
|
ISO |
ClinVar Annotator: match by term: Myopathy, congenital, with neuropathy and deafness |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28540413 PMID:29861105 PMID:34440880 |
|
NCBI chr 6:48,729,839...48,812,799
Ensembl chr 6:48,729,419...48,812,796
|
|
|
G |
SLC4A11 |
solute carrier family 4 member 11 |
|
ISO |
ClinVar Annotator: match by term: Corneal dystrophy and sensorineural deafness | ClinVar Annotator: match by term: Corneal dystrophy-perceptive deafness syndrome |
OMIM ClinVar |
PMID:16199547 PMID:16767101 PMID:16825429 PMID:17220209 PMID:17397048 PMID:17679935 PMID:18024964 PMID:18363173 PMID:18474783 PMID:19337156 PMID:19369245 PMID:20144242 PMID:21203343 PMID:22072594 PMID:23615275 PMID:23922488 PMID:24033266 PMID:24348007 PMID:24916015 PMID:25182519 PMID:25500497 PMID:25741868 PMID:25811729 PMID:26467025 PMID:27057589 PMID:27925686 PMID:28263186 PMID:28492532 PMID:28973083 PMID:29327391 PMID:30140924 PMID:31323090 PMID:31420327 PMID:31691803 PMID:31714402 PMID:33816482 PMID:35985662 More...
|
|
NCBI chr17:32,445,360...32,458,246
Ensembl chr17:32,446,831...32,458,245
|
|
|
G |
PAX3 |
paired box 3 |
|
ISO |
ClinVar Annotator: match by term: Craniofacial-deafness-hand syndrome |
OMIM ClinVar |
PMID:6859126 PMID:8589691 PMID:8664898 PMID:8863157 PMID:9584079 PMID:9856573 PMID:23806086 PMID:24033266 PMID:24088041 PMID:25736269 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29407415 PMID:30311386 More...
|
|
NCBI chr15:124,093,803...124,193,041
Ensembl chr15:124,094,295...124,193,011
|
|
|
G |
MYO7A |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness |
ClinVar |
PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
|
|
G |
VPS13B |
vacuolar protein sorting 13 homolog B |
|
ISO |
ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness |
ClinVar |
PMID:25741868 PMID:26539891 PMID:28492532 |
|
NCBI chr 4:37,085,929...37,821,159
Ensembl chr 4:37,090,936...37,820,419
|
|
|
G |
FOXC1 |
forkhead box C1 |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805
|
|
G |
PITX2 |
paired like homeodomain 2 |
|
ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,757...111,723,298
|
|
|
G |
AK2 |
adenylate kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19043416 |
|
NCBI chr 6:89,295,164...89,318,169
|
|
G |
AQP4 |
aquaporin 4 |
|
ISO |
|
RGD |
PMID:11406631 |
RGD:734598 |
NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109
|
|
G |
BDNF |
brain derived neurotrophic factor |
treatment |
ISO |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:18607918 PMID:19365690 PMID:21452221 PMID:23150788 |
RGD:8639313 RGD:8655576 |
NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765
|
|
G |
BDP1 |
B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB |
|
ISO |
ClinVar Annotator: match by term: Deafness |
ClinVar |
|
|
NCBI chr16:47,801,273...47,909,513
Ensembl chr16:47,801,315...47,908,851
|
|
G |
CACNA1D |
calcium voltage-gated channel subunit alpha1 D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10929716 PMID:15357422 |
RGD:1300292 |
NCBI chr13:35,568,534...35,911,483
Ensembl chr13:35,436,519...35,909,662
|
|
G |
CDC14A |
cell division cycle 14A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29293958 |
|
NCBI chr 4:117,635,849...117,804,568
Ensembl chr 4:117,635,861...117,805,254
|
|
G |
CDH23 |
cadherin related 23 |
|
ISO |
ClinVar Annotator: match by term: Deafness |
ClinVar |
PMID:30303587 |
|
NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834
|
|
G |
CLCNK |
chloride voltage-gated channel K |
|
ISO |
ClinVar Annotator: match by term: Deafness |
ClinVar |
PMID:30303587 |
|
NCBI chr 6:75,178,914...75,192,670
|
|
G |
CLDN14 |
claudin 14 |
susceptibility |
ISO |
DNA:deletion, missense mutation: :398delT, p.V85D CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:11163249 |
RGD:1600866 |
NCBI chr13:200,121,796...200,201,712
Ensembl chr13:200,128,477...200,145,525
|
|
G |
COCH |
cochlin |
susceptibility |
ISO |
deafness, autosomal dominant nonsyndromic sensorineural 9, OMIM:9601369;DNA:missense mutations |
RGD |
PMID:9806553 |
RGD:1600878 |
NCBI chr 7:68,580,124...68,595,142
Ensembl chr 7:68,576,153...68,594,077
|
|
G |
CRYM |
crystallin mu |
|
ISO |
DNA:missense mutation:cds:p.K314T (human) |
RGD |
PMID:12471561 |
RGD:734836 |
NCBI chr 3:24,815,010...24,835,837
Ensembl chr 3:24,815,010...24,835,836
|
|
G |
EPS8 |
EGFR pathway substrate 8, signaling adaptor |
|
ISO |
ClinVar Annotator: match by term: Deafness |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 |
|
NCBI chr 5:56,817,445...57,005,117
Ensembl chr 5:56,817,606...57,005,113
|
|
G |
ESPN |
espin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10975527 PMID:15286153 PMID:15930085 |
RGD:734943 |
NCBI chr 6:67,284,106...67,316,577
Ensembl chr 6:67,284,079...67,316,591
|
|
G |
ESR2 |
estrogen receptor 2 |
|
ISO |
|
RGD |
PMID:19293293 |
RGD:8553051 |
NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565
|
|
G |
GJB1 |
gap junction protein beta 1 |
treatment |
ISO |
|
RGD |
PMID:21813206 |
RGD:7364894 |
NCBI chr X:57,241,990...57,249,496
Ensembl chr X:57,242,045...57,249,885
|
|
G |
GJB2 |
gap junction protein beta 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness |
ClinVar |
PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 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:10830906 PMID:10982180 PMID:10982182 PMID:11313751 PMID:11313763 PMID:11386851 PMID:11483639 PMID:11493200 PMID:11551104 PMID:11668644 PMID:11807148 PMID:12081719 PMID:12172392 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12684873 PMID:12786762 PMID:14070830 PMID:14694360 PMID:14735592 PMID:14985372 PMID:14986832 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15359540 PMID:15365987 PMID:15666300 PMID:15954104 PMID:15967879 PMID:16088916 PMID:16300957 PMID:16336662 PMID:16380907 PMID:16773579 PMID:16849369 PMID:16868655 PMID:17041943 PMID:17428550 PMID:17553572 PMID:17661817 PMID:17993581 PMID:18294064 PMID:18414213 PMID:18804553 PMID:18925674 PMID:18985073 PMID:19173109 PMID:19371219 PMID:19375528 PMID:19925344 PMID:19941053 PMID:20073550 PMID:20236118 PMID:20301449 PMID:20739944 PMID:20815033 PMID:21094084 PMID:21220926 PMID:21465647 PMID:21468573 PMID:21910243 PMID:22037723 PMID:22281373 PMID:22567152 PMID:22855627 PMID:22975760 PMID:22981120 PMID:23489192 PMID:23757202 PMID:24033266 PMID:24039984 PMID:24158611 PMID:24346070 PMID:24793888 PMID:25189242 PMID:25214170 PMID:25637381 PMID:25741868 PMID:25999548 PMID:26059209 PMID:26096904 PMID:26445815 PMID:26467025 PMID:26896187 PMID:26969326 PMID:28492532 PMID:29293505 PMID:29311818 PMID:29362677 PMID:29501291 PMID:30086704 PMID:30303587 PMID:30311386 PMID:30431684 PMID:30872814 PMID:33333757 PMID:33524517 PMID:34440441 PMID:35396755 PMID:163800907 More...
|
|
NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
|
|
G |
GJB3 |
gap junction protein beta 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9843210 |
|
NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,542
|
|
G |
GPSM2 |
G protein signaling modulator 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness |
ClinVar |
PMID:30303587 |
|
NCBI chr 4:111,100,912...111,165,902
Ensembl chr 4:111,102,396...111,165,886
|
|
G |
IGF1 |
insulin like growth factor 1 |
|
ISO |
|
RGD |
PMID:20661454 |
RGD:8549497 |
NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
|
|
G |
ILDR1 |
immunoglobulin like domain containing receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness |
ClinVar |
PMID:30303587 |
|
NCBI chr13:138,530,905...138,575,483
Ensembl chr13:138,530,910...138,572,189
|
|
G |
JAG1 |
jagged canonical Notch ligand 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12022040 |
|
NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,259...19,629,641
|
|
G |
KCNJ10 |
potassium inwardly rectifying channel subfamily J member 10 |
|
ISO |
|
RGD |
PMID:12618319 |
RGD:8662867 |
NCBI chr 4:90,421,956...90,457,406
Ensembl chr 4:90,422,025...90,457,406
|
|
G |
KCNK1 |
potassium two pore domain channel subfamily K member 1 |
|
ISO |
mRNA:decreased expression:brain, neuron |
RGD |
PMID:17884299 |
RGD:2316516 |
NCBI chr14:57,268,064...57,319,338
Ensembl chr14:57,265,780...57,318,989
|
|
G |
KCNK10 |
potassium two pore domain channel subfamily K member 10 |
|
ISO |
mRNA:decreased expression:inferior colliculus (rat) |
RGD |
PMID:17884299 |
RGD:2316516 |
NCBI chr 7:110,117,087...110,271,877
Ensembl chr 7:110,121,263...110,271,481
|
|
G |
KCNK3 |
potassium two pore domain channel subfamily K member 3 |
|
ISO |
mRNA:decreased expression:brain, neuron |
RGD |
PMID:17884299 |
RGD:2316516 |
NCBI chr 3:112,322,446...112,359,212
Ensembl chr 3:112,322,446...112,359,212
|
|
G |
KCNQ1 |
potassium voltage-gated channel subfamily Q member 1 |
|
ISO |
DNA:deletion:exon (rat) |
RGD |
PMID:16368876 |
RGD:1581602 |
NCBI chr 2:1,675,323...1,989,110
Ensembl chr 2:1,675,360...1,989,111
|
|
G |
LOXHD1 |
lipoxygenase homology PLAT domains 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:96,080,751...96,287,034
Ensembl chr 1:96,080,824...96,276,992
|
|
G |
LRRC51 |
leucine-rich repeat-containing protein 51 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18953341 |
|
NCBI chr 9:6,663,122...6,673,272
Ensembl chr 9:6,663,134...6,673,271
|
|
G |
MARVELD2 |
MARVEL domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness |
ClinVar |
PMID:30303587 |
|
NCBI chr16:47,529,857...47,563,485
Ensembl chr16:47,530,068...47,563,482
|
|
G |
MITF |
melanocyte inducing transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9158138 |
|
NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,093
|
|
G |
MYO7A |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Deafness |
ClinVar |
PMID:22135276 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 PMID:36147510 More...
|
|
NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
|
|
G |
OTOF |
otoferlin |
|
ISO |
ClinVar Annotator: match by term: Deafness |
ClinVar |
PMID:30303587 |
|
NCBI chr 3:112,478,188...112,581,105
Ensembl chr 3:112,478,027...112,581,104
|
|
G |
OTOG |
otogelin |
|
ISO |
ClinVar Annotator: match by term: Deafness |
ClinVar |
PMID:30303587 |
|
NCBI chr 2:41,497,201...41,590,564
Ensembl chr 2:41,497,200...41,584,948
|
|
G |
PAX3 |
paired box 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14556253 |
|
NCBI chr15:124,093,803...124,193,041
Ensembl chr15:124,094,295...124,193,011
|
|
G |
PCDH15 |
protocadherin related 15 |
|
ISO |
CTD Direct Evidence: marker/mechanism DNA:nonsense mutation:cds:c.2911C>T|p.Arg971X (rat) |
CTD RGD |
PMID:10978835 PMID:19151506 |
RGD:2306012 |
NCBI chr14:95,530,168...96,388,032
|
|
G |
PJVK |
pejvakin |
|
ISO |
ClinVar Annotator: match by term: Deafness |
ClinVar |
PMID:17301963 PMID:17718875 PMID:19888295 PMID:21696384 PMID:25741868 PMID:28492532 PMID:30303587 PMID:32747562 More...
|
|
NCBI chr15:84,157,864...84,165,763
Ensembl chr15:84,158,639...84,165,906
|
|
G |
POLD1 |
DNA polymerase delta 1, catalytic subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23770608 |
|
NCBI chr 6:55,247,799...55,272,087
Ensembl chr 6:55,247,880...55,272,085
|
|
G |
POLR2C |
RNA polymerase II subunit C |
|
ISO |
ClinVar Annotator: match by term: Deafness |
ClinVar |
|
|
NCBI chr 6:19,393,569...19,401,119
Ensembl chr 6:19,393,597...19,401,116
|
|
G |
POLR2F |
RNA polymerase II, I and III subunit F |
|
ISO |
ClinVar Annotator: match by term: Deafness with anatomical inner ear anomalies |
ClinVar |
PMID:25077900 PMID:25741868 PMID:27562378 PMID:28492532 PMID:29419413 PMID:32908489 PMID:35802133 PMID:36633841 More...
|
|
NCBI chr 5:9,905,359...9,917,721
Ensembl chr 5:9,855,983...9,917,726
|
|
G |
POU3F4 |
POU class 3 homeobox 4 |
|
ISO |
|
RGD |
PMID:7839145 PMID:9298820 |
RGD:1599155 RGD:1599156 |
NCBI chr X:66,765,044...66,766,642
Ensembl chr X:66,765,105...66,766,190
|
|
G |
POU4F3 |
POU class 4 homeobox 3 |
|
ISO |
|
RGD |
PMID:9506947 |
RGD:1599168 |
NCBI chr 2:147,693,013...147,694,345
Ensembl chr 2:147,692,751...147,695,346
|
|
G |
PTPRQ |
protein tyrosine phosphatase receptor type Q |
|
ISO |
ClinVar Annotator: match by term: Deafness |
ClinVar |
PMID:30303587 |
|
NCBI chr 5:100,787,025...101,081,145
Ensembl chr 5:100,787,027...101,033,334
|
|
G |
RET |
ret proto-oncogene |
|
ISO |
mRNA:increased expression:vestibulocochlear VIII nerve cochlear component |
RGD |
PMID:16738479 |
RGD:2324943 |
NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412
|
|
G |
SERAC1 |
serine active site containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22683713 |
|
NCBI chr 1:8,935,081...9,002,774
Ensembl chr 1:8,935,091...9,002,770
|
|
G |
SLC19A2 |
solute carrier family 19 member 2 |
|
ISO |
|
RGD |
PMID:10391221 |
RGD:1599325 |
NCBI chr 4:81,510,221...81,535,099
Ensembl chr 4:81,510,098...81,536,464
|
|
G |
SLC26A4 |
solute carrier family 26 member 4 |
|
ISO |
ClinVar Annotator: match by term: Deafness |
ClinVar |
PMID:11317356 PMID:28492532 PMID:29372807 PMID:30303587 PMID:34170635 |
|
NCBI chr 9:107,365,121...107,431,065
Ensembl chr 9:107,365,814...107,431,062
|
|
G |
SLC26A5 |
solute carrier family 26 member 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12719379 |
|
NCBI chr 9:103,382,558...103,420,054
Ensembl chr 9:103,378,776...103,453,730
|
|
G |
SMAD4 |
SMAD family member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22158539 |
|
NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029
|
|
G |
SOX10 |
SRY-box transcription factor 10 |
|
ISO |
ClinVar Annotator: match by term: Deafness with anatomical inner ear anomalies |
ClinVar |
PMID:25077900 PMID:25741868 PMID:27562378 PMID:28492532 PMID:29419413 PMID:32908489 PMID:35802133 PMID:36633841 More...
|
|
NCBI chr 5:9,890,439...9,901,746
Ensembl chr 5:9,891,525...9,901,743
|
|
G |
TECTA |
tectorin alpha |
|
ISO |
ClinVar Annotator: match by term: Deafness |
ClinVar |
PMID:30303587 |
|
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
|
|
G |
TMC1 |
transmembrane channel like 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness |
ClinVar |
PMID:11850618 PMID:16199547 PMID:22105175 PMID:28492532 PMID:30303587 PMID:31379920 More...
|
|
NCBI chr 1:225,714,601...226,111,045
Ensembl chr 1:225,929,109...226,109,469
|
|
G |
TMTC2 |
transmembrane O-mannosyltransferase targeting cadherins 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27311106 |
|
NCBI chr 5:98,695,404...99,085,243
Ensembl chr 5:98,697,035...99,229,550
|
|
G |
TRIOBP |
TRIO and F-actin binding protein |
|
ISO |
ClinVar Annotator: match by term: Deafness |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 5:10,066,080...10,132,668
Ensembl chr 5:10,066,086...10,126,491
|
|
G |
USH1G |
USH1 protein network component sans |
|
ISO |
ClinVar Annotator: match by term: Deafness |
ClinVar |
PMID:25741868 PMID:30303587 |
|
NCBI chr12:6,333,640...6,341,083
Ensembl chr12:6,334,310...6,340,361
|
|
G |
USH2A |
usherin |
|
ISO |
ClinVar Annotator: match by term: Deafness |
ClinVar |
PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 PMID:28492532 PMID:30303587 More...
|
|
NCBI chr10:5,825,591...6,662,733
|
|
G |
WHRN |
whirlin |
|
ISO |
ClinVar Annotator: match by term: Deafness |
ClinVar |
PMID:30303587 |
|
NCBI chr 1:255,009,765...255,095,281
Ensembl chr 1:255,009,771...255,095,222
|
|
|
G |
PSMC3 |
proteasome 26S subunit, ATPase 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness, cataract, impaired intellectual development, and polyneuropathy |
OMIM ClinVar |
PMID:32500975 |
|
NCBI chr 2:15,185,482...15,191,189
Ensembl chr 2:15,166,306...15,193,047
|
|
|
G |
JAG1 |
jagged canonical Notch ligand 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, congenital heart defects, and posterior embryotoxon |
OMIM ClinVar |
PMID:9585603 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 PMID:11157803 PMID:12022040 PMID:12442286 PMID:12497640 PMID:16575836 PMID:19948535 PMID:20301450 PMID:20437614 PMID:21752016 PMID:22040217 PMID:22487239 PMID:23956173 PMID:24033266 PMID:24748328 PMID:25260786 PMID:25676721 PMID:25741868 PMID:26760175 PMID:28492532 More...
|
|
NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,259...19,629,641
|
|
|
G |
KARS1 |
lysyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, congenital, and adult-onset progressive leukoencephalopathy |
OMIM ClinVar |
PMID:21427441 PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 PMID:28887846 PMID:29615062 PMID:30252186 PMID:30311386 PMID:30369941 PMID:31116475 PMID:33260297 More...
|
|
NCBI chr 6:12,057,475...12,073,749
Ensembl chr 6:12,056,571...12,073,748
|
|
|
G |
MYO15A |
myosin XVA |
|
ISO |
ClinVar Annotator: match by term: Deafness, with smith-magenis syndrome |
ClinVar |
PMID:11735029 PMID:17546645 PMID:19274735 PMID:24033266 PMID:28492532 |
|
NCBI chr12:60,533,502...60,582,645
|
|
|
G |
BTK |
Bruton tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Deafness dystonia syndrome |
ClinVar |
|
|
NCBI chr X:82,981,512...83,014,475
Ensembl chr X:82,981,515...83,014,573
|
|
G |
TIMM8A |
translocase of inner mitochondrial membrane 8A |
|
ISO |
ClinVar Annotator: match by term: Deafness dystonia syndrome |
OMIM ClinVar |
PMID:8841189 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 PMID:11956200 PMID:15037720 PMID:15710860 PMID:16411215 PMID:17851739 PMID:17936919 PMID:17999202 PMID:20301395 PMID:21984432 PMID:22736418 PMID:24033266 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr X:82,978,128...82,981,038
Ensembl chr X:82,974,270...82,980,769
|
|
|
G |
MANF |
mesencephalic astrocyte derived neurotrophic factor |
|
ISO |
ClinVar Annotator: match by term: Diabetes, deafness, developmental delay, and short stature syndrome |
OMIM ClinVar |
PMID:26077850 PMID:33500254 |
|
NCBI chr13:33,658,279...33,662,218
Ensembl chr13:33,658,255...33,662,261
|
|
|
G |
EYA4 |
EYA transcriptional coactivator and phosphatase 4 |
|
ISO |
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Dilated cardiomyopathy 1J |
OMIM ClinVar |
PMID:9536098 PMID:10769282 PMID:11159937 PMID:15735644 PMID:16199547 PMID:17576681 PMID:23804846 PMID:23861362 PMID:23990876 PMID:24033266 PMID:25242383 PMID:25681523 PMID:25741868 PMID:25781927 PMID:25961296 PMID:25963406 PMID:26084686 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28492532 PMID:28767663 PMID:28798025 PMID:28831623 PMID:29030401 PMID:30123251 PMID:30165862 PMID:30311386 PMID:30368385 PMID:30828794 PMID:31163360 PMID:31333075 PMID:31568572 PMID:32107406 PMID:32277154 PMID:33745059 PMID:34426522 PMID:34956325 PMID:35026164 More...
|
|
NCBI chr 1:30,260,784...30,575,593
Ensembl chr 1:30,261,917...30,533,604
|
|
|
G |
ATP6V1B1 |
ATPase H+ transporting V1 subunit B1 |
|
ISO |
ClinVar Annotator: match by term: Renal tubular acidosis with progressive nerve deafness |
OMIM ClinVar |
PMID:8651253 PMID:9536098 PMID:9916796 PMID:12414817 PMID:12566520 PMID:12579397 PMID:16199547 PMID:16433694 PMID:16611712 PMID:16769747 PMID:17576681 PMID:17669226 PMID:18368028 PMID:18798332 PMID:20805693 PMID:21614596 PMID:22509993 PMID:22966473 PMID:23923981 PMID:24033266 PMID:24448499 PMID:24975934 PMID:25164082 PMID:25285676 PMID:25296721 PMID:25498251 PMID:25741868 PMID:25741914 PMID:26453614 PMID:26467025 PMID:27247958 PMID:28188436 PMID:28233610 PMID:28492532 PMID:28893421 PMID:29310826 PMID:29627839 PMID:30076350 PMID:30311386 PMID:30558562 PMID:31949730 PMID:31959358 PMID:34159584 PMID:35738466 More...
|
|
NCBI chr 3:71,560,102...71,591,885
Ensembl chr 3:71,561,236...71,591,845
|
|
|
G |
ATP6V0A4 |
ATPase H+ transporting V0 subunit a4 |
|
ISO |
ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Recessive | ClinVar Annotator: match by term: RTA, distal, autosomal recessive | ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing | ClinVar Annotator: match by term: Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss |
OMIM ClinVar |
PMID:9536098 PMID:10973252 PMID:12414817 PMID:16611712 PMID:17576681 PMID:18632794 PMID:19364879 PMID:23754897 PMID:24033266 PMID:24252324 PMID:25741868 PMID:25741915 PMID:26208211 PMID:27247958 PMID:28188436 PMID:28492532 PMID:29024829 PMID:29202719 PMID:29311258 PMID:29398133 PMID:29627839 PMID:30230413 PMID:31589614 PMID:31738409 PMID:31959358 PMID:32613277 PMID:34159584 PMID:35738466 More...
|
|
NCBI chr18:10,868,208...10,966,801
Ensembl chr18:10,919,422...10,966,410
|
|
G |
SLC4A1 |
solute carrier family 4 member 1 |
|
ISO |
ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing |
ClinVar |
PMID:25741868 PMID:28492532 PMID:35738466 |
|
NCBI chr12:18,957,813...18,975,266
Ensembl chr12:18,957,807...18,974,208
|
|
G |
TMEM213 |
transmembrane protein 213 |
|
ISO |
ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing |
ClinVar |
|
|
NCBI chr18:10,862,193...10,868,584
Ensembl chr18:10,862,206...10,868,435
|
|
|
G |
OPA1 |
OPA1 mitochondrial dynamin like GTPase |
|
ISO |
ClinVar Annotator: match by term: OPA1-related optic atrophy with or without extraocular features | ClinVar Annotator: match by term: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy |
OMIM ClinVar |
PMID:4058877 PMID:6493699 PMID:9490303 PMID:9917792 PMID:11017079 PMID:11017080 PMID:11440988 PMID:11440989 PMID:11810270 PMID:12036970 PMID:12488262 PMID:12566046 PMID:14644237 PMID:14961560 PMID:15505825 PMID:15531309 PMID:16158427 PMID:16240368 PMID:16513463 PMID:17167772 PMID:17188070 PMID:17722006 PMID:17724190 PMID:18065439 PMID:18158317 PMID:18195150 PMID:18204809 PMID:18222991 PMID:18496845 PMID:19029523 PMID:19303950 PMID:19319978 PMID:19900585 PMID:20157015 PMID:20185555 PMID:20301426 PMID:20417570 PMID:20659957 PMID:20801516 PMID:20952381 PMID:21036400 PMID:21112924 PMID:21636302 PMID:21646330 PMID:21745197 PMID:22042570 PMID:22433900 PMID:22779427 PMID:22857269 PMID:23250881 PMID:23388408 PMID:23401657 PMID:23916084 PMID:24798923 PMID:24907432 PMID:24970096 PMID:25012220 PMID:25146915 PMID:25146916 PMID:25564500 PMID:25641387 PMID:25741868 PMID:25741916 PMID:26206283 PMID:26385429 PMID:26455272 PMID:26467025 PMID:26561570 PMID:26867657 PMID:27165006 PMID:27290639 PMID:27696015 PMID:27858935 PMID:27890673 PMID:28125838 PMID:28378518 PMID:28492532 PMID:28494813 PMID:28812649 PMID:28848318 PMID:28926202 PMID:28981474 PMID:29389947 PMID:30293569 PMID:30972688 PMID:31500643 PMID:31521625 PMID:31609081 PMID:31673222 PMID:31782039 PMID:32025183 PMID:32040484 PMID:32141364 PMID:32202296 PMID:32371413 PMID:32379273 PMID:32420686 PMID:33546218 PMID:33841295 PMID:33884488 PMID:34008892 PMID:34242285 PMID:34426522 PMID:34732400 PMID:34758253 PMID:35741767 PMID:37196654 More...
|
|
NCBI chr13:130,624,771...130,718,345
Ensembl chr13:130,624,796...130,719,083
|
|
|
G |
LMBRD1 |
LMBR1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Donnai-Barrow syndrome |
ClinVar |
PMID:19136951 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:49,869,184...49,977,984
Ensembl chr 1:49,868,613...49,977,965
|
|
G |
LRP2 |
LDL receptor related protein 2 |
|
ISO |
ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: LRP2-related condition |
OMIM ClinVar |
PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 PMID:17576681 PMID:17632512 PMID:18414213 PMID:20301732 PMID:20359920 PMID:23033978 PMID:23048173 PMID:24319098 PMID:24406863 PMID:24876117 PMID:25158045 PMID:25326635 PMID:25682901 PMID:25741868 PMID:26118977 PMID:26284228 PMID:26350204 PMID:26529358 PMID:28492532 PMID:28539120 PMID:29992659 PMID:30167849 PMID:32238909 PMID:33103447 PMID:33461977 PMID:34979047 PMID:38177409 More...
|
|
NCBI chr15:75,565,299...75,754,604
Ensembl chr15:75,565,303...75,716,694
|
|
|
G |
TBC1D24 |
TBC1 domain family member 24 |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME | ClinVar Annotator: match by term: DOORS syndrome | ClinVar Annotator: match by term: Digitorenocerebral syndrome |
OMIM ClinVar |
PMID:3402014 PMID:16199547 PMID:20727515 PMID:22211675 PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:24387994 PMID:24729539 PMID:24729547 PMID:24824130 PMID:25169651 PMID:25557349 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26371875 PMID:26467025 PMID:26668325 PMID:27281533 PMID:27502353 PMID:27541164 PMID:27669036 PMID:28292732 PMID:28428906 PMID:28492532 PMID:28663785 PMID:28726039 PMID:29100083 PMID:30335140 PMID:31112829 PMID:31216405 PMID:31257402 PMID:31780880 PMID:32004315 PMID:33063868 PMID:33229591 PMID:33619735 PMID:33986365 PMID:34020146 More...
|
|
NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277
|
|
|
G |
SIRT3 |
sirtuin 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:36800006 |
|
NCBI chr 2:38,465...55,074
Ensembl chr 2:38,464...55,101
|
|
|
G |
ATP1A2 |
ATPase Na+/K+ transporting subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: EAST syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:90,341,316...90,371,040
Ensembl chr 4:90,341,322...90,370,996
|
|
G |
IGSF8 |
immunoglobulin superfamily member 8 |
|
ISO |
ClinVar Annotator: match by term: EAST syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:90,393,614...90,401,380
Ensembl chr 4:90,393,624...90,401,369
|
|
G |
KCNJ10 |
potassium inwardly rectifying channel subfamily J member 10 |
|
ISO |
ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy | ClinVar Annotator: match by term: SeSAME-like syndrome | ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome |
OMIM ClinVar |
PMID:19289823 PMID:19420365 PMID:19426954 PMID:20651251 PMID:20678478 PMID:20807765 PMID:21088294 PMID:21221631 PMID:21458570 PMID:21849804 PMID:22612257 PMID:22782654 PMID:23869231 PMID:23918157 PMID:23924083 PMID:23965030 PMID:24193250 PMID:24378235 PMID:24480364 PMID:24561201 PMID:24860705 PMID:25372295 PMID:25741868 PMID:25741909 PMID:25741916 PMID:26467025 PMID:26867573 PMID:27171548 PMID:27182706 PMID:27500072 PMID:27535533 PMID:27677466 PMID:27875746 PMID:27884173 PMID:28492532 PMID:28747464 PMID:28835827 PMID:29191078 PMID:29615871 PMID:30304693 PMID:30733538 PMID:32062759 PMID:32233732 PMID:32581362 PMID:33084218 More...
|
|
NCBI chr 4:90,421,956...90,457,406
Ensembl chr 4:90,422,025...90,457,406
|
|
G |
KCNJ9 |
potassium inwardly rectifying channel subfamily J member 9 |
|
ISO |
ClinVar Annotator: match by term: EAST syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:90,402,042...90,412,426
Ensembl chr 4:90,397,850...90,412,373
|
|
|
G |
AQP1 |
aquaporin 1 (Colton blood group) |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
|
NCBI chr18:42,063,482...42,076,741
Ensembl chr18:42,063,485...42,076,746
|
|
G |
CRHR2 |
corticotropin releasing hormone receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
|
NCBI chr18:42,251,755...42,296,457
Ensembl chr18:42,251,749...42,295,467
|
|
G |
FKBP14 |
FKBP prolyl isomerase 14 |
|
ISO |
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22265013 PMID:24677762 PMID:25741868 PMID:26467025 PMID:27149304 PMID:27905128 PMID:28492532 PMID:28617417 PMID:30561154 PMID:31063316 PMID:31132235 PMID:31428121 PMID:33587123 PMID:34504686 PMID:36054293 PMID:36553464 More...
|
|
NCBI chr18:42,903,100...42,913,609
Ensembl chr18:42,903,100...42,913,609
|
|
G |
GARS1 |
glycyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
|
NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162
|
|
G |
GGCT |
gamma-glutamylcyclotransferase |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
|
NCBI chr18:42,410,734...42,418,534
Ensembl chr18:42,410,792...42,418,980
|
|
G |
GHRHR |
growth hormone releasing hormone receptor |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
|
NCBI chr18:42,030,505...42,046,178
Ensembl chr18:42,030,510...42,046,184
|
|
G |
INMT |
indolethylamine N-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
|
NCBI chr18:42,213,335...42,218,175
Ensembl chr18:42,209,352...42,218,174
|
|
G |
MINDY4 |
MINDY lysine 48 deubiquitinase 4 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
|
NCBI chr18:42,096,351...42,202,511
Ensembl chr18:42,096,353...42,200,694
|
|
G |
MTURN |
maturin, neural progenitor differentiation regulator homolog |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
|
NCBI chr18:42,767,452...42,802,109
Ensembl chr18:42,771,454...42,802,093
|
|
G |
NOD1 |
nucleotide binding oligomerization domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
|
NCBI chr18:42,464,667...42,509,135
Ensembl chr18:42,432,050...42,512,264
|
|
G |
PLEKHA8 |
pleckstrin homology domain containing A8 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
|
NCBI chr18:42,841,085...42,901,203
Ensembl chr18:42,820,921...42,902,867
|
|
G |
ZNRF2 |
zinc and ring finger 2 |
|
ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
ClinVar |
PMID:28492532 |
|
NCBI chr18:42,550,571...42,651,914
Ensembl chr18:42,549,846...42,651,807
|
|
|
G |
CD151 |
CD151 molecule |
|
ISO |
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 7, with nephropathy and deafness |
OMIM ClinVar |
PMID:15265795 PMID:25741868 PMID:25741871 PMID:28492532 |
|
NCBI chr 2:525,000...529,568
Ensembl chr 2:525,051...529,565
|
|
|
G |
ERBB2 |
erb-b2 receptor tyrosine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Visceral neuropathy, familial, 2, autosomal recessive |
OMIM ClinVar |
PMID:33497358 |
|
NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351
|
|
|
G |
HDLBP |
high density lipoprotein binding protein |
|
ISO |
ClinVar Annotator: match by term: Fine-Lubinsky syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:139,957,703...140,025,336
Ensembl chr15:139,957,715...140,022,302
|
|
G |
POR |
cytochrome p450 oxidoreductase |
|
ISO |
ClinVar Annotator: match by term: Fine-Lubinsky syndrome |
ClinVar |
PMID:22162478 PMID:25741868 |
|
NCBI chr 3:10,212,734...10,272,184
Ensembl chr 3:10,212,735...10,281,823
|
|
G |
SLC39A13 |
solute carrier family 39 member 13 |
|
ISO |
ClinVar Annotator: match by term: Fine-Lubinsky syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:15,194,028...15,202,936
Ensembl chr 2:15,194,017...15,210,425
|
|
|
G |
MAP3K7 |
mitogen-activated protein kinase kinase kinase 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 1:58,482,046...58,548,087
Ensembl chr 1:58,481,956...58,548,057
|
|
|
G |
RAB27A |
RAB27A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Griscelli syndrome |
ClinVar |
PMID:10835631 PMID:12148598 PMID:16551969 PMID:18350256 PMID:19953648 PMID:23160464 PMID:24033266 PMID:25741868 PMID:26684649 PMID:28492532 More...
|
|
NCBI chr 1:116,532,816...116,606,477
Ensembl chr 1:116,532,974...116,606,474
|
|
|
G |
MYO5A |
myosin VA |
|
ISO |
ClinVar Annotator: match by term: Griscelli syndrome type 1 | ClinVar Annotator: match by term: Griscelli syndrome, cutaneous and neurologic type |
OMIM ClinVar |
PMID:9207796 PMID:9536098 PMID:10704277 PMID:12058346 PMID:17576681 PMID:25326635 PMID:25741868 PMID:28492532 PMID:32275080 More...
|
|
NCBI chr 1:119,165,751...119,398,591
Ensembl chr 1:119,165,942...119,394,725
|
|
|
G |
CCPG1 |
cell cycle progression 1 |
|
ISO |
ClinVar Annotator: match by term: Griscelli syndrome type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:116,447,171...116,492,917
Ensembl chr 1:116,449,079...116,492,907
|
|
G |
DNAAF4 |
dynein axonemal assembly factor 4 |
|
ISO |
ClinVar Annotator: match by term: Griscelli syndrome type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:116,331,217...116,431,673
Ensembl chr 1:116,332,630...116,430,984
|
|
G |
PIERCE2 |
piercer of microtubule wall 2 |
|
ISO |
ClinVar Annotator: match by term: Griscelli syndrome type 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:116,435,725...116,448,887
Ensembl chr 1:116,435,820...116,448,972
|
|
G |
PIGB |
phosphatidylinositol glycan anchor biosynthesis class B |
|
ISO |
ClinVar Annotator: match by term: Griscelli syndrome type 2 |
ClinVar |
PMID:10835631 PMID:23160464 PMID:28492532 |
|
NCBI chr 1:116,492,910...116,519,673
Ensembl chr 1:116,491,886...116,532,934
|
|
G |
RAB27A |
RAB27A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Griscelli syndrome type 2 | ClinVar Annotator: match by term: Partial albinism and immunodeficiency syndrome |
OMIM ClinVar |
PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12148598 PMID:12531900 PMID:12648328 PMID:15163896 PMID:15475639 PMID:16199547 PMID:16278825 PMID:16551969 PMID:17085000 PMID:17576681 PMID:18350256 PMID:18397837 PMID:18403584 PMID:19030707 PMID:19953648 PMID:22475297 PMID:23160464 PMID:24033266 PMID:24678334 PMID:25071262 PMID:25312756 PMID:25500851 PMID:25544030 PMID:25741868 PMID:25801174 PMID:25901543 PMID:26684649 PMID:26880764 PMID:27016801 PMID:27416802 PMID:27781387 PMID:28353193 PMID:28492532 PMID:28585352 PMID:28936583 PMID:29357941 PMID:29522846 PMID:30104219 PMID:30290665 PMID:30697212 PMID:30899265 PMID:30934652 PMID:31233462 PMID:32375849 PMID:32542393 PMID:32638196 PMID:32853466 PMID:32856792 PMID:32860008 PMID:32888943 PMID:32965739 PMID:33225392 PMID:33362801 PMID:34329649 PMID:34573280 PMID:34796988 More...
|
|
NCBI chr 1:116,532,816...116,606,477
Ensembl chr 1:116,532,974...116,606,474
|
|
|
G |
MLPH |
melanophilin |
|
ISO |
ClinVar Annotator: match by term: Griscelli syndrome type 3 | ClinVar Annotator: match by term: Hypomelanosis with no immunologic or neurologic manifestations |
OMIM ClinVar |
PMID:12148598 PMID:12897212 PMID:21883982 PMID:22711375 PMID:25741868 PMID:26337734 PMID:26915675 PMID:28492532 PMID:30389201 PMID:31721180 PMID:32864751 More...
|
|
NCBI chr15:137,173,962...137,219,724
Ensembl chr15:137,174,009...137,219,713
|
|
G |
MYO5A |
myosin VA |
|
ISO |
ClinVar Annotator: match by term: Griscelli syndrome type 3 |
ClinVar |
PMID:12148598 PMID:12897212 PMID:22711375 PMID:25283056 |
|
NCBI chr 1:119,165,751...119,398,591
Ensembl chr 1:119,165,942...119,394,725
|
|
|
G |
ABHD12 |
abhydrolase domain containing 12, lysophospholipase |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:30311386 |
|
NCBI chr17:30,997,477...31,056,307
Ensembl chr17:30,997,479...31,056,312
|
|
G |
ACTG1 |
actin gamma 1 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:19477959 PMID:20301607 PMID:24033266 PMID:25741868 PMID:25792668 PMID:30311386 More...
|
|
NCBI chr12:1,320,355...1,323,219
Ensembl chr12:1,313,641...1,323,217
|
|
G |
ADGRV1 |
adhesion G protein-coupled receptor V1 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:19357117 PMID:22135276 PMID:22147658 PMID:24033266 PMID:25741868 PMID:26226137 PMID:26467025 PMID:26667666 PMID:27460420 PMID:28157192 PMID:28492532 PMID:30029497 PMID:30311386 PMID:30718709 PMID:31047384 PMID:32467589 More...
|
|
NCBI chr 2:97,703,648...98,277,847
Ensembl chr 2:97,735,053...98,275,748
|
|
G |
ALMS1 |
ALMS1 centrosome and basal body associated protein |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:17594715 PMID:24462884 PMID:25296579 PMID:25741868 PMID:26066530 PMID:26104972 PMID:27178444 PMID:28492532 PMID:30311386 PMID:32581362 More...
|
|
NCBI chr 3:69,253,742...69,417,043
Ensembl chr 3:69,253,750...69,417,189
|
|
G |
ANAPC15 |
anaphase promoting complex subunit 15 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
|
|
NCBI chr 9:6,685,934...6,689,913
Ensembl chr 9:6,685,939...6,689,256
|
|
G |
APOE |
apolipoprotein E |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19738398 |
|
NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
|
|
G |
ARC |
activity regulated cytoskeleton associated protein |
treatment |
ISO |
mRNA:decreased expression:auditory cortex: |
RGD |
PMID:18524887 PMID:18607918 |
RGD:8655535 RGD:8655538 |
NCBI chr 4:1,517,986...1,521,403
Ensembl chr 4:1,518,180...1,519,370
|
|
G |
ATOH1 |
atonal bHLH transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Hearing loss |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:125,768,232...125,770,619
Ensembl chr 8:125,768,286...125,770,545
|
|
G |
ATP2B2 |
ATPase plasma membrane Ca2+ transporting 2 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:30311386 |
|
NCBI chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128
|
|
G |
ATP6V1B1 |
ATPase H+ transporting V1 subunit B1 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:9916796 PMID:16769747 PMID:18368028 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 PMID:34159584 More...
|
|
NCBI chr 3:71,560,102...71,591,885
Ensembl chr 3:71,561,236...71,591,845
|
|
G |
B3GNT4 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:28492532 PMID:30311386 |
|
NCBI chr14:30,520,075...30,524,275
Ensembl chr14:30,520,077...30,523,060
|
|
G |
BARHL1 |
BarH like homeobox 1 |
|
ISO |
|
RGD |
PMID:12091321 |
RGD:14390166 |
NCBI chr 1:272,373,125...272,380,223
Ensembl chr 1:272,373,402...272,381,224
|
|
G |
BCL2L1 |
BCL2 like 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17697574 |
|
NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,143...35,414,694
|
|
G |
BDNF |
brain derived neurotrophic factor |
|
ISO |
mRNA:increased expression:cochlea: |
RGD |
PMID:18524887 |
RGD:8655535 |
NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765
|
|
G |
BDP1 |
B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:30311386 |
|
NCBI chr16:47,801,273...47,909,513
Ensembl chr16:47,801,315...47,908,851
|
|
G |
BMP2 |
bone morphogenetic protein 2 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:30872814 |
|
NCBI chr17:15,750,487...15,762,982
Ensembl chr17:15,749,835...15,761,195
|
|
G |
BMP4 |
bone morphogenetic protein 4 |
|
ISO |
|
RGD |
PMID:17275231 |
RGD:8698665 |
NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637
|
|
G |
BSND |
barttin CLCNK type accessory subunit beta |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:11687798 PMID:19646679 PMID:25741868 PMID:28492532 PMID:30311386 |
|
NCBI chr 6:157,424,389...157,432,571
Ensembl chr 6:157,425,878...157,432,580
|
|
G |
C14H10orf105 |
chromosome 14 C10orf105 homolog |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30311386 |
|
NCBI chr14:74,630,827...74,639,180
Ensembl chr14:74,629,796...74,638,022
|
|
G |
CABP2 |
calcium binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:30311386 |
|
NCBI chr 2:5,014,888...5,020,705
Ensembl chr 2:5,014,810...5,020,775
|
|
G |
CACNA1D |
calcium voltage-gated channel subunit alpha1 D |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:16199547 PMID:28492532 PMID:30311386 |
|
NCBI chr13:35,568,534...35,911,483
Ensembl chr13:35,436,519...35,909,662
|
|
G |
CACNA2D2 |
calcium voltage-gated channel auxiliary subunit alpha2delta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27798183 |
|
NCBI chr13:32,845,110...32,988,851
Ensembl chr13:32,845,115...32,988,774
|
|
G |
CATSPER2 |
cation channel sperm associated 2 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
|
|
NCBI chr 1:127,814,349...127,831,023
Ensembl chr 1:127,814,376...127,829,109
|
|
G |
CDH23 |
cadherin related 23 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:11138009 PMID:18429043 PMID:21117948 PMID:21940737 PMID:23794683 PMID:24033266 PMID:25404053 PMID:25741868 PMID:26467025 PMID:27068579 PMID:28492532 PMID:30245029 PMID:30311386 PMID:31445392 PMID:33205915 PMID:36672845 More...
|
|
NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834
|
|
G |
CEACAM16 |
CEA cell adhesion molecule 16, tectorial membrane component |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:24033266 PMID:25741868 PMID:30311386 |
|
NCBI chr 6:51,217,085...51,228,458
Ensembl chr 6:51,220,812...51,231,761
|
|
G |
CHD7 |
chromodomain helicase DNA binding protein 7 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 |
|
NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146
|
|
G |
CHSY1 |
chondroitin sulfate synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:30872814 |
|
NCBI chr 1:139,730,703...139,804,458
Ensembl chr 1:139,730,721...139,804,657
|
|
G |
CIB2 |
calcium and integrin binding family member 2 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:26173970 PMID:28492532 PMID:28663585 PMID:29112224 PMID:30311386 |
|
NCBI chr 7:47,807,806...47,813,400
Ensembl chr 7:47,788,646...47,813,399
|
|
G |
CKMT1A |
creatine kinase, mitochondrial 1A |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
|
|
NCBI chr 1:127,852,533...127,859,066
|
|
G |
CLCC1 |
chloride channel CLIC like 1 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:24033266 PMID:30311386 |
|
NCBI chr 4:111,080,648...111,101,007
Ensembl chr 4:111,080,682...111,101,303
|
|
G |
CLDN14 |
claudin 14 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:11163249 PMID:15880785 PMID:22246673 PMID:23235333 PMID:25741868 PMID:28492532 PMID:30303587 PMID:30311386 More...
|
|
NCBI chr13:200,121,796...200,201,712
Ensembl chr13:200,128,477...200,145,525
|
|
G |
CLDN9 |
claudin 9 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss |
ClinVar |
PMID:25741868 PMID:30311386 PMID:31175426 |
|
NCBI chr 3:39,172,731...39,181,827
Ensembl chr 3:39,172,853...39,174,354
|
|
G |
CLIC5 |
chloride intracellular channel 5 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:30311386 |
|
NCBI chr 7:40,683,044...40,808,017
Ensembl chr 7:40,682,907...40,863,886
|
|
G |
CLRN1 |
clarin 1 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:11524702 PMID:12145752 PMID:19753315 PMID:20717163 PMID:22681893 PMID:24033266 PMID:25741868 PMID:27460420 PMID:28492532 PMID:30311386 More...
|
|
NCBI chr13:91,104,850...91,152,397
Ensembl chr13:91,106,207...91,148,031
|
|
G |
COCH |
cochlin |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:9931344 PMID:10400989 PMID:11332404 PMID:16151338 PMID:16481359 PMID:19161137 PMID:24033266 PMID:24662630 PMID:28733840 PMID:30311386 More...
|
|
NCBI chr 7:68,580,124...68,595,142
Ensembl chr 7:68,576,153...68,594,077
|
|
G |
COL11A1 |
collagen type XI alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:9536098 PMID:17576681 PMID:28492532 PMID:30311386 PMID:33169910 |
|
NCBI chr 4:115,638,381...115,841,679
Ensembl chr 4:115,634,172...115,840,708
|
|
G |
COL11A2 |
collagen type XI alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:9536098 PMID:16033917 PMID:17576681 PMID:24033266 PMID:25633957 PMID:25741868 PMID:28492532 PMID:30311386 PMID:33229591 More...
|
|
NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,497...25,234,888
|
|
G |
COL2A1 |
collagen type II alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:25741868 PMID:26626311 PMID:28492532 PMID:30311386 |
|
NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,137...78,380,718
|
|
G |
COL4A3 |
collagen type IV alpha 3 chain |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness |
ClinVar |
PMID:7987301 PMID:9269635 PMID:11044206 PMID:11134255 PMID:11961012 PMID:12028435 PMID:14582039 PMID:14871398 PMID:17216251 PMID:21157337 PMID:21897443 PMID:23967202 PMID:24033266 PMID:24130771 PMID:25229338 PMID:25307543 PMID:25741868 PMID:26346198 PMID:26467025 PMID:26809805 PMID:27932480 PMID:28117080 PMID:28492532 PMID:28658201 PMID:29204651 PMID:29271581 PMID:30311386 PMID:30819905 PMID:31027891 PMID:31256874 PMID:31477057 PMID:31865346 More...
|
|
NCBI chr15:128,611,640...128,763,331
Ensembl chr15:128,611,866...128,763,122
|
|
G |
COL4A4 |
collagen type IV alpha 4 chain |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:17396119 PMID:24033287 PMID:24854265 PMID:25741868 PMID:26934356 PMID:28492532 PMID:28632965 PMID:29496980 PMID:30311386 PMID:33048202 PMID:33532864 PMID:33838161 PMID:34584596 More...
|
|
NCBI chr15:128,472,228...128,612,302
Ensembl chr15:128,476,257...128,595,477
|
|
G |
COL4A5 |
collagen type IV alpha 5 chain |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:8406498 PMID:8455372 PMID:9536098 PMID:10094548 PMID:11462238 PMID:12105244 PMID:15957001 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 PMID:30477285 More...
|
|
NCBI chr X:88,958,837...89,183,306
Ensembl chr X:88,958,849...89,183,372
|
|
G |
COL9A1 |
collagen type IX alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:24036952 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 |
|
NCBI chr 1:50,403,355...50,498,356
Ensembl chr 1:50,403,361...50,498,332
|
|
G |
COL9A3 |
collagen type IX alpha 3 chain |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:28492532 PMID:30311386 |
|
NCBI chr17:62,074,108...62,094,228
Ensembl chr17:62,074,855...62,093,703
|
|
G |
CX3CL1 |
C-X3-C motif chemokine ligand 1 |
|
ISO |
mRNA, protein:altered expression:cochlea |
RGD |
PMID:24781382 |
RGD:9491762 |
NCBI chr 6:19,312,351...19,324,439
|
|
G |
CX3CR1 |
C-X3-C motif chemokine receptor 1 |
|
ISO |
mRNA, protein:increased expression:cochlea |
RGD |
PMID:24781382 |
RGD:9491762 |
NCBI chr13:23,944,386...23,957,567
Ensembl chr13:23,944,369...23,957,486
|
|
G |
DIABLO |
diablo IAP-binding mitochondrial protein |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:28492532 PMID:30311386 |
|
NCBI chr14:30,498,885...30,519,846
Ensembl chr14:30,498,900...30,520,070
|
|
G |
DIAPH1 |
diaphanous related formin 1 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed |
ClinVar |
PMID:24033266 PMID:24781755 PMID:25741868 PMID:26463574 PMID:28492532 PMID:30311386 PMID:32581362 More...
|
|
NCBI chr 2:143,158,691...143,271,110
Ensembl chr 2:143,158,585...143,271,147
|
|
G |
DIAPH3 |
diaphanous related formin 3 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30311386 |
|
NCBI chr11:32,492,735...32,994,854
Ensembl chr11:32,492,740...32,994,844
|
|
G |
DMXL2 |
Dmx like 2 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:30311386 |
|
NCBI chr 1:120,138,249...120,298,603
Ensembl chr 1:120,138,336...120,298,586
|
|
G |
DNMT1 |
DNA methyltransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21532572 |
|
NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844
|
|
G |
DSPP |
dentin sialophosphoprotein |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:131,318,187...131,444,274
Ensembl chr 8:131,319,983...131,472,761
|
|
G |
EDNRB |
endothelin receptor type B |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 PMID:30311386 PMID:32747562 More...
|
|
NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884
|
|
G |
EFTUD2 |
elongation factor Tu GTP binding domain containing 2 |
|
ISO |
associated with mandibulofacial dysostosis, Guion-Almeida type;DNA:mutations:cds:multiple |
RGD |
PMID:24470203 |
RGD:155791662 |
NCBI chr12:18,474,367...18,514,993
Ensembl chr12:18,474,097...18,517,479
|
|
G |
ERAL1 |
Era like 12S mitochondrial rRNA chaperone 1 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
|
|
NCBI chr12:45,082,931...45,091,278
Ensembl chr12:45,083,003...45,088,673
|
|
G |
ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25440059 |
|
NCBI chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898
|
|
G |
ESR2 |
estrogen receptor 2 |
|
ISO |
|
RGD |
PMID:18317592 |
RGD:8553063 |
NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565
|
|
G |
ESRRB |
estrogen related receptor beta |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:23967202 PMID:24033266 PMID:28492532 PMID:30303587 PMID:30311386 PMID:33524517 More...
|
|
NCBI chr 7:99,511,135...99,699,478
Ensembl chr 7:99,514,168...99,699,011
|
|
G |
EYA1 |
EYA transcriptional coactivator and phosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:23552953 PMID:24033266 PMID:25741868 PMID:26667035 PMID:28492532 PMID:30311386 More...
|
|
NCBI chr 4:63,970,939...64,328,107
Ensembl chr 4:63,970,807...64,328,105
|
|
G |
EYA4 |
EYA transcriptional coactivator and phosphatase 4 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 |
|
NCBI chr 1:30,260,784...30,575,593
Ensembl chr 1:30,261,917...30,533,604
|
|
G |
FOXC1 |
forkhead box C1 |
|
ISO |
associated with Axenfeld-Rieger Syndrome;DNA:deletion:cds:437-453del17(human) |
RGD |
PMID:17653043 |
RGD:12904051 |
NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805
|
|
G |
FOXI1 |
forkhead box I1 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed |
ClinVar |
PMID:25741868 PMID:30311386 |
|
NCBI chr16:53,835,350...53,839,185
Ensembl chr16:53,835,399...53,839,187
|
|
G |
GATA3 |
GATA binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30311386 |
|
NCBI chr10:63,367,684...63,397,977
Ensembl chr10:63,367,663...63,388,859
|
|
G |
GIPC3 |
GIPC PDZ domain containing family member 3 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:30311386 PMID:32682410 |
|
NCBI chr 2:75,082,048...75,090,145
Ensembl chr 2:75,083,362...75,089,756
|
|
G |
GJA1 |
gap junction protein alpha 1 |
no_association |
ISO |
DNA:polymorphisms |
RGD |
PMID:12791041 |
RGD:8662384 |
NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156
|
|
G |
GJB2 |
gap junction protein beta 2 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:3 PMID:1218943 PMID:1693158 PMID:2706105 PMID:2956987 PMID:6409293 PMID:9139825 PMID:9285800 PMID:9326398 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9716127 PMID:9819448 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:10704187 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11386851 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11918723 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12064630 PMID:12072059 PMID:12081719 PMID:12111646 PMID:12112666 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12457340 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12548749 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12684873 PMID:12746422 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12865758 PMID:12872268 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14643477 PMID:14681040 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15146674 PMID:15150777 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15479191 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15617546 PMID:15617550 PMID:15633193 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15769851 PMID:15790391 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16545002 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16931589 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17330861 PMID:17331080 PMID:17357124 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17576681 PMID:17581693 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18196482 PMID:18294064 PMID:18324688 PMID:18414213 PMID:18451998 PMID:18519481 PMID:18560174 PMID:18570691 PMID:18684989 PMID:18758381 PMID:18776652 PMID:18804553 PMID:18843290 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19465004 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19723508 PMID:19814620 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20096356 PMID:20101161 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20441744 PMID:20442751 PMID:20497192 PMID:20553101 PMID:20563649 PMID:20639189 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 PMID:20937258 PMID:20981092 PMID:21040787 PMID:21094084 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21298644 PMID:21366436 PMID:21388256 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21510145 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21868108 PMID:21910243 PMID:21912263 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22037723 PMID:22106692 PMID:22208444 PMID:22281373 PMID:22384008 PMID:22429511 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22574200 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22975760 PMID:22981120 PMID:22995991 PMID:23039283 PMID:23120683 PMID:23141775 PMID:23328711 PMID:23418865 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23668481 PMID:23680645 PMID:23757202 PMID:23797420 PMID:23804846 PMID:23826813 PMID:23873582 PMID:23900770 PMID:23924173 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24158611 PMID:24256046 PMID:24346070 PMID:24503448 PMID:24529908 PMID:24611097 PMID:24654934 PMID:24737404 PMID:24762805 PMID:24793888 PMID:24840842 PMID:24945352 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25162826 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25388846 PMID:25401782 PMID:25555641 PMID:25575739 PMID:25587757 PMID:25625422 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25788563 PMID:25808784 PMID:25999548 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:26381000 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26482070 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27141831 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 PMID:27340645 PMID:27398341 PMID:27481527 PMID:27534436 PMID:27623246 PMID:27627659 PMID:27785406 PMID:27792752 PMID:27843504 PMID:27884957 PMID:28012523 PMID:28263784 PMID:28271504 PMID:28428247 PMID:28489599 PMID:28492532 PMID:29106882 PMID:29140768 PMID:29293505 PMID:29311818 PMID:29362677 PMID:29501291 PMID:29605365 PMID:29625052 PMID:29921236 PMID:29926981 PMID:30068397 PMID:30086704 PMID:30094485 PMID:30168495 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30589569 PMID:30693673 PMID:30733538 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31346875 PMID:31370293 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31581539 PMID:31589614 PMID:31620696 PMID:31827275 PMID:31980526 PMID:31992338 PMID:32090102 PMID:32258544 PMID:32455934 PMID:32645618 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33333757 PMID:33524517 PMID:33614373 PMID:34325055 PMID:34335733 PMID:34440441 PMID:34515852 PMID:35016843 PMID:35301649 PMID:35396755 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 More...
|
|
NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
|
|
G |
GJB3 |
gap junction protein beta 3 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
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...
|
|
NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,542
|
|
G |
GJB6 |
gap junction protein beta 6 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:30311386 |
|
NCBI chr11:793,276...800,109
Ensembl chr11:793,280...800,046
|
|
G |
GPSM2 |
G protein signaling modulator 2 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:24033266 PMID:30311386 |
|
NCBI chr 4:111,100,912...111,165,902
Ensembl chr 4:111,102,396...111,165,886
|
|
G |
GRHL2 |
grainyhead like transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:30311386 |
|
NCBI chr 4:35,368,788...35,565,394
Ensembl chr 4:35,371,136...35,564,919
|
|
G |
GSDME |
gasdermin E |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed |
ClinVar |
PMID:28492532 PMID:30311386 |
|
NCBI chr18:47,524,637...47,583,748
Ensembl chr18:47,526,797...47,583,731
|
|
G |
HGF |
hepatocyte growth factor |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 |
|
NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564
|
|
G |
IL10 |
interleukin 10 |
treatment |
ISO |
associated with Meningitis, Pneumococcal associated with Autoimmune Diseases |
RGD |
PMID:21697956 PMID:22644021 |
RGD:7364829 RGD:7364842 |
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
|
|
G |
ILDR1 |
immunoglobulin like domain containing receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:21255762 PMID:24033266 PMID:25741868 PMID:27610647 PMID:28492532 PMID:30311386 More...
|
|
NCBI chr13:138,530,905...138,575,483
Ensembl chr13:138,530,910...138,572,189
|
|
G |
KARS1 |
lysyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 |
|
NCBI chr 6:12,057,475...12,073,749
Ensembl chr 6:12,056,571...12,073,748
|
|
G |
KCNE1 |
potassium voltage-gated channel subfamily E regulatory subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Hereditary hearing loss and deafness |
ClinVar |
|
|
NCBI chr13:198,051,281...198,059,444
Ensembl chr13:198,051,282...198,059,296
|
|
G |
KCNJ10 |
potassium inwardly rectifying channel subfamily J member 10 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:25741868 PMID:26467025 PMID:27171548 PMID:28492532 |
|
NCBI chr 4:90,421,956...90,457,406
Ensembl chr 4:90,422,025...90,457,406
|
|
G |
KCNQ1 |
potassium voltage-gated channel subfamily Q member 1 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:19716085 PMID:23788249 PMID:25525159 PMID:25741868 PMID:27707468 PMID:28492532 PMID:30311386 More...
|
|
NCBI chr 2:1,675,323...1,989,110
Ensembl chr 2:1,675,360...1,989,111
|
|
G |
KCNQ4 |
potassium voltage-gated channel subfamily Q member 4 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30311386 |
|
NCBI chr 6:170,346,135...170,401,534
Ensembl chr 6:170,346,141...170,401,718
|
|
G |
LHFPL5 |
LHFPL tetraspan subfamily member 5 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:28492532 PMID:30311386 |
|
NCBI chr 7:31,624,050...31,642,269
Ensembl chr 7:31,624,450...31,642,268
|
|
G |
LIPT1 |
lipoyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:25741868 PMID:27247813 PMID:28492532 |
|
NCBI chr 3:55,176,387...55,177,508
|
|
G |
LMX1A |
LIM homeobox transcription factor 1 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29971487 |
|
NCBI chr 4:85,403,287...85,570,738
Ensembl chr 4:85,406,223...85,571,443
|
|
G |
LOC106504299 |
serpin B6 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:30311386 |
|
NCBI chr 7:1,755,252...1,776,144
Ensembl chr 7:1,752,689...1,776,087
|
|
G |
LOXHD1 |
lipoxygenase homology PLAT domains 1 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:16199547 PMID:19732867 PMID:21465660 PMID:22341973 PMID:23804846 PMID:24033266 PMID:25741868 PMID:25792669 PMID:28000701 PMID:28492532 PMID:29309402 PMID:29676012 PMID:30311386 PMID:32682410 PMID:36147510 More...
|
|
NCBI chr 1:96,080,751...96,287,034
Ensembl chr 1:96,080,824...96,276,992
|
|
G |
LRP2 |
LDL receptor related protein 2 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30311386 |
|
NCBI chr15:75,565,299...75,754,604
Ensembl chr15:75,565,303...75,716,694
|
|
G |
LRRC51 |
leucine-rich repeat-containing protein 51 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
|
|
NCBI chr 9:6,663,122...6,673,272
Ensembl chr 9:6,663,134...6,673,271
|
|
G |
MANBA |
mannosidase beta |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:2079835 PMID:9384606 PMID:12468273 PMID:16199547 PMID:18565776 PMID:28492532 PMID:30311386 PMID:30872814 PMID:32847582 More...
|
|
NCBI chr 8:118,251,122...118,361,903
Ensembl chr 8:118,251,106...118,361,900
|
|
G |
MAP3K1 |
mitogen-activated protein kinase kinase kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss |
ClinVar |
PMID:28492532 PMID:30311386 PMID:30872814 |
|
NCBI chr16:35,872,301...35,947,097
Ensembl chr16:35,872,131...35,946,987
|
|
G |
MARVELD2 |
MARVEL domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:16199547 PMID:17186462 PMID:18084694 PMID:22097895 PMID:24033266 PMID:25666562 PMID:25741868 PMID:28492532 PMID:30311386 More...
|
|
NCBI chr16:47,529,857...47,563,485
Ensembl chr16:47,530,068...47,563,482
|
|
G |
MECP2 |
methyl-CpG binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:11007980 PMID:11071498 PMID:11309367 PMID:11772708 PMID:11805248 PMID:11885030 PMID:12325019 PMID:12843318 PMID:14598336 PMID:20301670 PMID:21831886 PMID:24328834 PMID:25473036 PMID:25741868 PMID:26350204 PMID:26418480 PMID:27465203 PMID:27781091 PMID:27929079 PMID:28492532 PMID:32581362 More...
|
|
NCBI chr X:124,735,523...124,789,063
Ensembl chr X:124,735,656...124,738,659
|
|
G |
MIR96 |
microRNA mir-96 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:30311386 |
|
NCBI chr18:18,982,506...18,982,590
Ensembl chr18:18,982,506...18,982,590
|
|
G |
MITD1 |
microtubule interacting and trafficking domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:25741868 PMID:27247813 PMID:28492532 |
|
NCBI chr 3:55,054,475...55,078,180
Ensembl chr 3:55,054,517...55,069,866
|
|
G |
MITF |
melanocyte inducing transcription factor |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:8659547 PMID:9856573 PMID:25741868 |
|
NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,093
|
|
G |
MSRB3 |
methionine sulfoxide reductase B3 |
|
ISO |
ClinVar Annotator: match by term: Hearing loss |
ClinVar |
PMID:24033266 |
|
NCBI chr 5:29,695,824...29,863,601
Ensembl chr 5:29,695,640...29,863,599
|
|
G |
MT-CYB |
mitochondrially encoded cytochrome b |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:28027978 |
|
NCBI chr MT:15,342...16,481
Ensembl chr MT:15,342...16,481
|
|
G |
MT-ND4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:28027978 |
|
NCBI chr MT:11,359...12,736
Ensembl chr MT:11,359...12,736
|
|
G |
MT-ND5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:28027978 |
|
NCBI chr MT:12,935...14,755
Ensembl chr MT:12,935...14,755
|
|
G |
MTHFR |
methylenetetrahydrofolate reductase |
susceptibility |
ISO |
DNA:SNP:cds:677C>T(human) |
RGD |
PMID:21385350 |
RGD:7387225 |
NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820
|
|
G |
MTR |
5-methyltetrahydrofolate-homocysteine methyltransferase |
susceptibility |
ISO |
DNA:SNP::2756A>G(human) |
RGD |
PMID:21385350 |
RGD:7387225 |
NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,978...54,652,763
|
|
G |
MYH14 |
myosin heavy chain 14 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss |
ClinVar |
PMID:24033266 PMID:25741868 PMID:27393652 PMID:28492532 PMID:29293505 PMID:30311386 More...
|
|
NCBI chr 6:55,097,851...55,200,754
Ensembl chr 6:55,113,521...55,200,750
|
|
G |
MYH9 |
myosin heavy chain 9 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:18059020 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 PMID:30872814 More...
|
|
NCBI chr 5:11,365,603...11,456,475
Ensembl chr 5:11,360,660...11,456,472
|
|
G |
MYO15A |
myosin XVA |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:2574186 PMID:7616538 PMID:7704031 PMID:17546645 PMID:17853461 PMID:20505086 PMID:21917145 PMID:23208854 PMID:23767834 PMID:24033266 PMID:24123792 PMID:24875298 PMID:25741868 PMID:25792667 PMID:26242193 PMID:26969326 PMID:27375115 PMID:27870113 PMID:28000701 PMID:28492532 PMID:30311386 PMID:30622556 PMID:31379920 PMID:31827275 PMID:31980526 PMID:32747562 PMID:33398081 PMID:33524517 More...
|
|
NCBI chr12:60,533,502...60,582,645
|
|
G |
MYO3A |
myosin IIIA |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 |
|
NCBI chr10:49,392,119...49,623,575
|
|
G |
MYO6 |
myosin VI |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:9536098 PMID:12687499 PMID:17576681 PMID:18348273 PMID:21078986 PMID:23767834 PMID:24033266 PMID:25741868 PMID:25999546 PMID:28000701 PMID:28492532 PMID:30311386 PMID:30582396 PMID:32143290 More...
|
|
NCBI chr 1:89,992,860...90,137,767
Ensembl chr 1:89,992,866...90,137,734
|
|
G |
MYO7A |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:8900236 PMID:9259201 PMID:16199547 PMID:21436283 PMID:21873662 PMID:22135276 PMID:23208854 PMID:24033266 PMID:25404053 PMID:25741868 PMID:26467025 PMID:26486028 PMID:26969326 PMID:27068579 PMID:27160483 PMID:28492532 PMID:29276601 PMID:30311386 PMID:30828346 PMID:30872814 More...
|
|
NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
|
|
G |
NDP |
norrin cystine knot growth factor NDP |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:14635119 PMID:25741868 PMID:28492532 PMID:30311386 PMID:31456290 |
|
NCBI chr X:39,208,115...39,235,879
Ensembl chr X:39,208,119...39,235,758
|
|
G |
NLRP3 |
NLR family pyrin domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:15593220 PMID:25741868 PMID:28492532 PMID:29922587 PMID:30311386 |
|
NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228
|
|
G |
NSDHL |
NAD(P) dependent steroid dehydrogenase-like |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:25741868 |
|
NCBI chr X:123,906,130...123,921,935
Ensembl chr X:123,906,199...123,929,117
|
|
G |
NTF3 |
neurotrophin 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18024279 |
|
NCBI chr 5:65,052,608...65,122,645
Ensembl chr 5:65,052,519...65,123,788
|
|
G |
OTOA |
otoancorin |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:24033266 PMID:25741868 PMID:30311386 |
|
NCBI chr 3:23,570,216...23,662,948
Ensembl chr 3:23,570,382...23,662,480
|
|
G |
OTOF |
otoferlin |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:18381613 PMID:19250381 PMID:20146813 PMID:20301429 PMID:22575033 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27068579 PMID:28492532 PMID:29293505 PMID:30311386 PMID:31581539 More...
|
|
NCBI chr 3:112,478,188...112,581,105
Ensembl chr 3:112,478,027...112,581,104
|
|
G |
OTOG |
otogelin |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 PMID:32048449 |
|
NCBI chr 2:41,497,201...41,590,564
Ensembl chr 2:41,497,200...41,584,948
|
|
G |
OTOGL |
otogelin like |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 |
|
NCBI chr 5:101,099,525...101,318,254
Ensembl chr 5:101,100,282...101,251,884
|
|
G |
OXR1 |
oxidation resistance 1 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:36130215 |
|
NCBI chr 4:30,735,844...31,254,952
Ensembl chr 4:30,734,514...31,400,997
|
|
G |
PAX3 |
paired box 3 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:24033266 PMID:28492532 PMID:30311386 |
|
NCBI chr15:124,093,803...124,193,041
Ensembl chr15:124,094,295...124,193,011
|
|
G |
PCDH15 |
protocadherin related 15 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:24033266 PMID:25468891 PMID:25741868 PMID:28492532 PMID:30311386 |
|
NCBI chr14:95,530,168...96,388,032
|
|
G |
PDE5A |
phosphodiesterase 5A |
treatment |
ISO |
|
RGD |
PMID:22270721 |
RGD:7775056 |
NCBI chr 8:104,270,858...104,420,955
Ensembl chr 8:104,270,881...104,420,953
|
|
G |
PDZD7 |
PDZ domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:9536098 PMID:17576681 PMID:28492532 PMID:30311386 |
|
NCBI chr14:112,088,332...112,111,348
|
|
G |
PJVK |
pejvakin |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:24033266 PMID:28492532 PMID:30311386 |
|
NCBI chr15:84,157,864...84,165,763
Ensembl chr15:84,158,639...84,165,906
|
|
G |
PLS1 |
plastin 1 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness |
ClinVar |
PMID:25741868 PMID:30872814 PMID:31397523 PMID:31432506 |
|
NCBI chr13:83,307,692...83,434,133
Ensembl chr13:83,308,007...83,434,128
|
|
G |
POLR1C |
RNA polymerase I and III subunit C |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:610060 PMID:22855961 PMID:25741868 PMID:26151409 PMID:28492532 PMID:30311386 PMID:32042905 PMID:33804237 More...
|
|
NCBI chr 7:38,511,521...38,531,938
Ensembl chr 7:38,507,073...38,537,943
|
|
G |
POLR1D |
RNA polymerase I and III subunit D |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:30311386 |
|
NCBI chr11:5,044,274...5,045,921
Ensembl chr11:5,044,329...5,089,766
|
|
G |
POLR2F |
RNA polymerase II, I and III subunit F |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:17999358 PMID:20127975 PMID:25741868 PMID:26467025 PMID:27240497 PMID:28492532 PMID:30311386 More...
|
|
NCBI chr 5:9,905,359...9,917,721
Ensembl chr 5:9,855,983...9,917,726
|
|
G |
POU4F3 |
POU class 4 homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:28492532 PMID:30311386 |
|
NCBI chr 2:147,693,013...147,694,345
Ensembl chr 2:147,692,751...147,695,346
|
|
G |
PRKG1 |
protein kinase cGMP-dependent 1 |
|
ISO |
|
RGD |
PMID:22270721 |
RGD:7775056 |
NCBI chr14:97,558,531...98,793,080
Ensembl chr14:97,558,533...98,793,010
|
|
G |
PRKRA |
protein activator of interferon induced protein kinase EIF2AK2 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:24033266 PMID:28492532 |
|
NCBI chr15:84,134,273...84,156,596
Ensembl chr15:84,133,687...84,156,508
|
|
G |
PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: X-linked nonsyndromic hearing loss |
ClinVar |
|
|
NCBI chr X:88,074,861...88,101,925
Ensembl chr X:88,074,965...88,101,910
|
|
G |
PSAP |
prosaposin |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:18429043 PMID:23794683 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763
|
|
G |
PTPRQ |
protein tyrosine phosphatase receptor type Q |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:25741868 PMID:30311386 |
|
NCBI chr 5:100,787,025...101,081,145
Ensembl chr 5:100,787,027...101,033,334
|
|
G |
PTPRS |
protein tyrosine phosphatase receptor type S |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:30872814 |
|
NCBI chr 2:73,607,815...73,680,685
Ensembl chr 2:73,574,854...73,680,686
|
|
G |
RDX |
radixin |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:25741868 PMID:30311386 |
|
NCBI chr 9:38,243,608...38,299,561
Ensembl chr 9:38,220,447...38,322,097
|
|
G |
RPGR |
retinitis pigmentosa GTPase regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12920075 |
|
NCBI chr X:34,238,961...34,522,814
Ensembl chr X:34,228,124...34,296,589
|
|
G |
SEMA3F |
semaphorin 3F |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:30311386 |
|
NCBI chr13:32,641,376...32,671,231
Ensembl chr13:32,641,424...32,671,223
|
|
G |
SF3B4 |
splicing factor 3b subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Hereditary hearing loss and deafness |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:99,123,564...99,129,218
Ensembl chr 4:99,123,585...99,129,218
|
|
G |
SH3PXD2B |
SH3 and PX domains 2B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19669234 |
|
NCBI chr16:51,733,170...51,858,774
Ensembl chr16:51,733,135...51,858,772
|
|
G |
SIX1 |
SIX homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:28492532 PMID:30311386 |
|
NCBI chr 1:189,620,430...189,624,652
Ensembl chr 1:189,619,855...189,624,651
|
|
G |
SLC12A2 |
solute carrier family 12 member 2 |
|
ISO |
ClinVar Annotator: match by term: Hearing loss |
ClinVar |
PMID:32294086 PMID:32658972 |
|
NCBI chr 2:131,016,430...131,109,307
Ensembl chr 2:131,016,418...131,109,299
|
|
G |
SLC22A4 |
solute carrier family 22 member 4 |
|
ISO |
ClinVar Annotator: match by term: Hereditary hearing loss and deafness |
ClinVar |
PMID:27023905 PMID:28492532 PMID:33643381 PMID:34194829 |
|
NCBI chr 2:134,594,843...134,641,403
Ensembl chr 2:134,595,584...134,639,777
|
|
G |
SLC26A4 |
solute carrier family 26 member 4 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:9070918 PMID:9500541 PMID:9618166 PMID:9618167 PMID:10700480 PMID:10861298 PMID:11317356 PMID:11375792 PMID:11932316 PMID:12354788 PMID:12788906 PMID:14679580 PMID:15279074 PMID:15355436 PMID:15679828 PMID:15689455 PMID:16570074 PMID:16950989 PMID:17503324 PMID:18283249 PMID:18285825 PMID:18310264 PMID:18322141 PMID:19017801 PMID:19204907 PMID:19509082 PMID:19787632 PMID:20301640 PMID:20553101 PMID:20597900 PMID:20842945 PMID:21045265 PMID:21551164 PMID:22717225 PMID:23185506 PMID:23208854 PMID:23273637 PMID:23336812 PMID:23401162 PMID:23555729 PMID:23804846 PMID:23918157 PMID:23965030 PMID:24033266 PMID:24156272 PMID:24224479 PMID:25290043 PMID:25372295 PMID:25373420 PMID:25741868 PMID:25788563 PMID:25910213 PMID:25991456 PMID:25999548 PMID:26445815 PMID:26683941 PMID:26752218 PMID:26763877 PMID:26969326 PMID:27771369 PMID:28273078 PMID:28492532 PMID:28964290 PMID:29196752 PMID:29293505 PMID:29320412 PMID:29546359 PMID:30068397 PMID:30139988 PMID:30240412 PMID:30245029 PMID:30311386 PMID:31599023 PMID:31633822 PMID:32747562 PMID:33152970 PMID:34599368 PMID:34680964 More...
|
|
NCBI chr 9:107,365,121...107,431,065
Ensembl chr 9:107,365,814...107,431,062
|
|
G |
SLC26A5 |
solute carrier family 26 member 5 |
no_association |
ISO |
DNA:snp:intron:IVS2-2A>G (human) ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
RGD ClinVar |
PMID:16086836 PMID:30311386 |
RGD:9479051 |
NCBI chr 9:103,382,558...103,420,054
Ensembl chr 9:103,378,776...103,453,730
|
|
G |
SLC29A3 |
solute carrier family 29 member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20140240 |
|
NCBI chr14:74,222,988...74,267,527
Ensembl chr14:74,223,115...74,274,646
|
|
G |
SLC33A1 |
solute carrier family 33 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22243965 |
|
NCBI chr13:95,690,453...95,724,239
Ensembl chr13:95,658,530...95,724,156
|
|
G |
SLITRK6 |
SLIT and NTRK like family member 6 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:24033266 PMID:28492532 PMID:30311386 |
|
NCBI chr11:56,508,713...56,522,270
Ensembl chr11:56,508,767...56,522,197
|
|
G |
SMPX |
small muscle protein X-linked |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:30311386 |
|
NCBI chr X:17,889,030...17,938,206
Ensembl chr X:17,889,030...17,938,293
|
|
G |
SOD1 |
superoxide dismutase 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:11474137 PMID:16055286 |
RGD:1581213 |
NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
|
|
G |
SOX10 |
SRY-box transcription factor 10 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:17999358 PMID:20127975 PMID:25741868 PMID:26467025 PMID:27240497 PMID:28492532 PMID:30311386 More...
|
|
NCBI chr 5:9,890,439...9,901,746
Ensembl chr 5:9,891,525...9,901,743
|
|
G |
SPNS2 |
SPNS lysolipid transporter 2, sphingosine-1-phosphate |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:30311386 |
|
NCBI chr12:50,454,051...50,491,172
Ensembl chr12:50,454,063...50,491,164
|
|
G |
STAT1 |
signal transducer and activator of transcription 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20712533 |
|
NCBI chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
|
|
G |
STRC |
stereocilin |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:25741868 PMID:30311386 |
|
NCBI chr 1:127,830,759...127,852,392
Ensembl chr 1:127,835,622...127,852,339
|
|
G |
TCOF1 |
treacle ribosome biogenesis factor 1 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30311386 |
|
NCBI chr 2:151,368,264...151,401,029
Ensembl chr 2:151,368,289...151,401,027
|
|
G |
TECTA |
tectorin alpha |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:11087000 PMID:12746400 PMID:17431902 PMID:21520338 PMID:24033266 PMID:24130743 PMID:24586623 PMID:25262649 PMID:25741868 PMID:27068579 PMID:28492532 PMID:30311386 PMID:34008892 More...
|
|
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
|
|
G |
TJP2 |
tight junction protein 2 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:25741868 PMID:30311386 |
|
NCBI chr 1:222,474,518...222,612,989
Ensembl chr 1:222,474,639...222,612,983
|
|
G |
TLR2 |
toll like receptor 2 |
susceptibility |
ISO |
associated with Meningitis,Bacterial; DNA:haplotype: :2477G>A(rs5743708)(human) |
RGD |
PMID:22662111 |
RGD:7800663 |
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
|
|
G |
TLR4 |
toll like receptor 4 |
susceptibility |
ISO |
associated with Meningitis,Bacterial; DNA:SNP,haplotype: :896A>G(rs4986790)(human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:21148032 PMID:22662111 |
RGD:7800663 |
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
|
|
G |
TLR9 |
toll like receptor 9 |
|
ISO |
associated with Meningitis,Bacterial; DNA:SNP: :-1237T>C(rs5743836)(human) |
RGD |
PMID:22662111 |
RGD:7800663 |
NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
|
|
G |
TMC1 |
transmembrane channel like 1 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:11850618 PMID:16134132 PMID:16287143 PMID:22105175 PMID:23767834 PMID:25741868 PMID:28492532 PMID:28501645 PMID:30311386 PMID:33524517 More...
|
|
NCBI chr 1:225,714,601...226,111,045
Ensembl chr 1:225,929,109...226,109,469
|
|
G |
TMIE |
transmembrane inner ear |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:28492532 PMID:30303587 PMID:30311386 More...
|
|
NCBI chr13:29,623,905...29,633,016
Ensembl chr13:29,624,154...29,633,013
|
|
G |
TMPRSS3 |
transmembrane serine protease 3 |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:11137999 PMID:11462234 PMID:11907649 PMID:15447792 PMID:16021470 PMID:16283880 PMID:16460646 PMID:17551081 PMID:19170735 PMID:21534946 PMID:21786053 PMID:22975204 PMID:23208854 PMID:23958653 PMID:23967202 PMID:24033266 PMID:24526180 PMID:25262649 PMID:25741868 PMID:26036852 PMID:26408194 PMID:26969326 PMID:28246597 PMID:28492532 PMID:28566687 PMID:28695016 PMID:29293505 PMID:29431110 PMID:30242206 PMID:30303587 PMID:30311386 PMID:30622556 PMID:31045651 PMID:31152317 PMID:31589614 PMID:31980526 PMID:34599368 PMID:34868270 More...
|
|
NCBI chr13:205,707,501...205,733,037
Ensembl chr13:205,709,663...205,732,824
|
|
G |
TNC |
tenascin C |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:30311386 |
|
NCBI chr 1:255,533,235...255,630,381
Ensembl chr 1:255,533,238...255,630,376
|
|
G |
TNF |
tumor necrosis factor |
|
ISO |
associated with Cytomegalovirus Infections;protein:increased expression:scala tympani: |
RGD |
PMID:22001951 |
RGD:7394702 |
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
|
|
G |
TPRN |
taperin |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:28492532 PMID:30311386 |
|
|
|
G |
TRIOBP |
TRIO and F-actin binding protein |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:16385457 PMID:16385458 PMID:20510926 PMID:24033266 PMID:25741868 PMID:28000701 PMID:28089734 PMID:28492532 PMID:29197352 PMID:30311386 More...
|
|
NCBI chr 5:10,066,080...10,132,668
Ensembl chr 5:10,066,086...10,126,491
|
|
G |
TSPEAR |
thrombospondin type laminin G domain and EAR repeats |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:30311386 |
|
NCBI chr13:207,285,878...207,412,523
Ensembl chr13:207,285,886...207,412,511
|
|
G |
TYR |
tyrosinase |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:1429711 PMID:1642278 PMID:1903591 PMID:5516239 PMID:9242509 PMID:11284711 PMID:13680365 PMID:15146472 PMID:18463683 PMID:18821858 PMID:19060277 PMID:19208379 PMID:19320745 PMID:19865097 PMID:20861488 PMID:21906913 PMID:22734612 PMID:24033266 PMID:24123366 PMID:25216246 PMID:25333069 PMID:25741868 PMID:26167114 PMID:26818737 PMID:27734839 PMID:27775880 PMID:27887888 PMID:28266639 PMID:28492532 PMID:28667292 PMID:30311386 PMID:31719542 PMID:32411182 More...
|
|
NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290
|
|
G |
UCP2 |
uncoupling protein 2 |
|
ISO |
mRNA, protein:increased expression:cochlea (rat) |
RGD |
PMID:22543089 |
RGD:10045653 |
NCBI chr 9:8,358,559...8,364,552
Ensembl chr 9:8,358,025...8,365,547
|
|
G |
UCP3 |
uncoupling protein 3 |
|
ISO |
mRNA, protein:increased expression:cochlea (rat) |
RGD |
PMID:22543089 |
RGD:10045653 |
NCBI chr 9:8,378,023...8,389,452
Ensembl chr 9:8,378,021...8,386,211
|
|
G |
USH1C |
USH1 protein network component harmonin |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:10973247 PMID:16199547 PMID:17407589 PMID:20301442 PMID:21203349 PMID:22135276 PMID:23967202 PMID:24033266 PMID:25741868 PMID:27460420 PMID:28492532 PMID:30311386 PMID:32036094 PMID:32531858 PMID:34148116 More...
|
|
NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247
|
|
G |
USH1G |
USH1 protein network component sans |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:24033266 PMID:25255398 PMID:25741868 PMID:27068579 PMID:27353947 PMID:28492532 PMID:30245029 PMID:30311386 PMID:30828346 PMID:30872814 PMID:31637240 More...
|
|
NCBI chr12:6,333,640...6,341,083
Ensembl chr12:6,334,310...6,340,361
|
|
G |
USH2A |
usherin |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:2564938 PMID:10729113 PMID:10909849 PMID:14970843 PMID:15015129 PMID:15241801 PMID:16098008 PMID:16199547 PMID:16963483 PMID:17405132 PMID:18273898 PMID:18463160 PMID:18641288 PMID:19683999 PMID:19881469 PMID:20507924 PMID:21569298 PMID:22004887 PMID:22135276 PMID:24033266 PMID:24944099 PMID:25262649 PMID:25333064 PMID:25342620 PMID:25366773 PMID:25575603 PMID:25649381 PMID:25741868 PMID:25999674 PMID:26467025 PMID:26927203 PMID:27460420 PMID:28041643 PMID:28157192 PMID:28492532 PMID:28559085 PMID:28944237 PMID:29151245 PMID:29293505 PMID:30192042 PMID:30245029 PMID:30311386 PMID:30718709 PMID:30872814 PMID:31054281 PMID:31817543 PMID:32037395 PMID:32531858 PMID:33089500 PMID:34906470 More...
|
|
NCBI chr10:5,825,591...6,662,733
|
|
G |
WFS1 |
wolframin ER transmembrane glycoprotein |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment |
ClinVar |
PMID:11161832 PMID:11317350 PMID:12073007 PMID:15605410 PMID:22238590 PMID:23429432 PMID:24033266 PMID:24890733 PMID:24909696 PMID:25048417 PMID:25211237 PMID:25741868 PMID:27395765 PMID:28492532 PMID:29563951 PMID:30311386 PMID:31343797 PMID:31391115 PMID:31765440 PMID:31850070 More...
|
|
NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273
|
|
G |
WHRN |
whirlin |
|
ISO |
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive |
ClinVar |
PMID:20352026 PMID:22135276 PMID:23804846 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 More...
|
|
NCBI chr 1:255,009,765...255,095,281
Ensembl chr 1:255,009,771...255,095,222
|
|
|
G |
ACYP2 |
acylphosphatase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25665007 |
|
NCBI chr 3:86,945,635...87,231,376
Ensembl chr 3:86,945,647...87,109,139
|
|
G |
CAMK2A |
calcium/calmodulin dependent protein kinase II alpha |
treatment |
ISO |
|
RGD |
PMID:23558232 |
RGD:9685025 |
NCBI chr 2:151,248,356...151,353,907
Ensembl chr 2:151,248,358...151,308,706
|
|
G |
CAMK2B |
calcium/calmodulin dependent protein kinase II beta |
treatment |
ISO |
|
RGD |
PMID:23558232 |
RGD:9685025 |
NCBI chr18:50,862,225...50,956,263
Ensembl chr18:50,861,466...50,956,225
|
|
G |
CAT |
catalase |
|
ISO |
protein:decreased expression:cochlear: |
RGD |
PMID:10220857 |
RGD:9197256 |
NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
|
|
G |
COMT |
catechol-O-methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19898482 |
|
NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
|
|
G |
GSK3B |
glycogen synthase kinase 3 beta |
treatment |
ISO |
|
RGD |
PMID:19666099 |
RGD:10045579 |
NCBI chr13:140,136,109...140,370,197
Ensembl chr13:140,136,158...140,369,569
|
|
G |
TPMT |
thiopurine S-methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19898482 |
|
NCBI chr 7:13,821,656...13,846,107
Ensembl chr 7:13,820,866...13,846,012
|
|
|
G |
ARC |
activity regulated cytoskeleton associated protein |
|
ISO |
|
RGD |
PMID:17275194 |
RGD:8655559 |
NCBI chr 4:1,517,986...1,521,403
Ensembl chr 4:1,518,180...1,519,370
|
|
G |
BDNF |
brain derived neurotrophic factor |
|
ISO |
protein:increased expression:cochlea: |
RGD |
PMID:17275194 PMID:19925854 PMID:22723694 |
RGD:8636263 RGD:8655559 RGD:8655575 |
NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765
|
|
G |
CALB1 |
calbindin 1 |
|
ISO |
|
RGD |
PMID:22428005 |
RGD:401940127 |
NCBI chr 4:46,701,276...46,723,548
Ensembl chr 4:46,701,045...46,725,197
|
|
G |
CAT |
catalase |
susceptibility severity treatment |
ISO |
DNA:SNPs,haplotype:: |
RGD |
PMID:17567781 PMID:18212468 PMID:23179931 |
RGD:9068906 RGD:9068923 RGD:9190810 |
NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
|
|
G |
CCL2 |
chemokine (C-C motif) ligand 2 |
|
ISO |
mRNA:increased expression:cochlea (mouse) |
RGD |
PMID:17081714 |
RGD:8549464 |
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
|
|
G |
CCR2 |
C-C motif chemokine receptor 2 |
|
ISO |
|
RGD |
PMID:17075702 |
RGD:8657356 |
NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343
|
|
G |
CDH23 |
cadherin related 23 |
no_association |
ISO |
DNA:SNPs: :rs1227049, rs1227051 (human) DNA:SNPs: :rs1227049, rs3802711 (human) |
RGD |
PMID:16598924 |
RGD:8662283 |
NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834
|
|
G |
CDKN1A |
cyclin dependent kinase inhibitor 1A |
|
ISO |
|
RGD |
PMID:21187137 |
RGD:8661793 |
NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761
|
|
G |
CFI |
complement factor I |
|
ISO |
mRNA:increased expression:spiral organ of cochlea, sensory epithelium |
RGD |
PMID:23727008 |
RGD:8662317 |
NCBI chr 8:112,430,824...112,470,844
Ensembl chr 8:112,433,633...112,470,832
|
|
G |
CNTN1 |
contactin 1 |
|
ISO |
|
RGD |
PMID:22044737 |
RGD:5685697 |
NCBI chr 5:72,168,496...72,495,454
Ensembl chr 5:72,168,511...72,495,633
|
|
G |
GABRA1 |
gamma-aminobutyric acid type A receptor subunit alpha1 |
|
ISO |
|
RGD |
PMID:22428005 |
RGD:401940127 |
NCBI chr16:61,656,583...61,723,428
Ensembl chr16:61,656,590...61,723,448
|
|
G |
GAD1 |
glutamate decarboxylase 1 |
|
ISO |
|
RGD |
PMID:22428005 |
RGD:401940127 |
NCBI chr15:76,991,863...77,034,819
Ensembl chr15:76,991,928...77,034,812
|
|
G |
GAP43 |
growth associated protein 43 |
|
ISO |
|
RGD |
PMID:22428005 |
RGD:401940127 |
NCBI chr13:144,364,314...144,458,136
Ensembl chr13:144,364,317...144,629,174
|
|
G |
GJB2 |
gap junction protein beta 2 |
|
ISO |
protein:increased expression:cochlea: |
RGD |
PMID:15224875 |
RGD:7349367 |
NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
|
|
G |
HIF1A |
hypoxia inducible factor 1 subunit alpha |
treatment |
ISO |
|
RGD |
PMID:21787680 |
RGD:8695948 |
NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845
|
|
G |
HSPA1L |
heat shock protein family A (Hsp70) member 1 like |
|
ISO |
DNA:SNP, haplotype: :rs2227956 (human) |
RGD |
PMID:17009596 |
RGD:8662466 |
NCBI chr 7:23,909,960...23,938,678
Ensembl chr 7:23,909,960...23,914,629
|
|
G |
ICAM1 |
intercellular adhesion molecule 1 |
|
ISO |
|
RGD |
PMID:19213042 |
RGD:8547577 |
NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
|
|
G |
IGF1 |
insulin like growth factor 1 |
|
ISO |
|
RGD |
PMID:16585854 |
RGD:8549455 |
NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
|
|
G |
IL6 |
interleukin 6 |
|
ISO |
|
RGD |
PMID:16429448 |
RGD:7829818 |
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
|
|
G |
KCNE1 |
potassium voltage-gated channel subfamily E regulatory subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Noise induced hearing loss |
ClinVar |
PMID:7828904 PMID:9445165 PMID:12402336 PMID:14661677 PMID:14760488 PMID:15599693 PMID:16487223 PMID:17161064 PMID:17210839 PMID:17597962 PMID:18426444 PMID:22581653 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr13:198,051,281...198,059,444
Ensembl chr13:198,051,282...198,059,296
|
|
G |
KCNQ1 |
potassium voltage-gated channel subfamily Q member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16823764 |
|
NCBI chr 2:1,675,323...1,989,110
Ensembl chr 2:1,675,360...1,989,111
|
|
G |
KCNQ4 |
potassium voltage-gated channel subfamily Q member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16823764 |
|
NCBI chr 6:170,346,135...170,401,534
Ensembl chr 6:170,346,141...170,401,718
|
|
G |
MIR107 |
microRNA mir-107 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23472202 |
|
NCBI chr14:101,420,743...101,420,829
Ensembl chr14:101,420,743...101,420,829
|
|
G |
MIR10A |
microRNA mir-10a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23472202 |
|
NCBI chr12:24,833,644...24,833,723
Ensembl chr12:24,833,627...24,833,730
|
|
G |
MIR146B |
microRNA mir-146b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23472202 |
|
NCBI chr14:113,446,854...113,446,952
|
|
G |
MIR183 |
microRNA mir-183 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23472202 |
|
NCBI chr18:18,982,269...18,982,338
Ensembl chr18:18,982,269...18,982,338
|
|
G |
MIR186 |
microRNA mir-186 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23472202 |
|
NCBI chr 6:141,943,328...141,943,409
Ensembl chr 6:141,943,328...141,943,409
|
|
G |
MIR190B |
microRNA mir-190b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23472202 |
|
NCBI chr 4:95,540,606...95,540,688
Ensembl chr 4:95,540,606...95,540,688
|
|
G |
MIR30D |
microRNA mir-30d |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23472202 |
|
NCBI chr 4:6,948,669...6,948,747
Ensembl chr 4:6,948,669...6,948,747
|
|
G |
MIR30E |
microRNA mir-30e |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23472202 |
|
NCBI chr 6:170,429,841...170,429,920
Ensembl chr 6:170,429,841...170,429,920
|
|
G |
MIR331 |
microRNA mir-331 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23472202 |
|
NCBI chr 5:88,028,339...88,028,418
Ensembl chr 5:88,028,339...88,028,418
|
|
G |
MIR339-2 |
microRNA mir-339-2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23472202 |
|
NCBI chr 1:164,025,972...164,026,057
Ensembl chr 1:164,025,972...164,026,057
|
|
G |
MIR381 |
microRNA mir-381 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23472202 |
|
|
|
G |
MIR532 |
microRNA mir-532 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23472202 |
|
NCBI chr X:43,705,258...43,705,337
Ensembl chr X:43,705,258...43,705,337
|
|
G |
MIR99B |
microRNA mir-99b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23472202 |
|
NCBI chr 6:58,332,211...58,332,280
Ensembl chr 6:58,332,205...58,332,284
|
|
G |
MMP7 |
matrix metallopeptidase 7 |
|
ISO |
|
RGD |
PMID:23100416 |
RGD:9685340 |
NCBI chr 9:33,214,590...33,225,080
Ensembl chr 9:33,214,594...33,225,080
|
|
G |
NOB1 |
NIN1 (RPN12) binding protein 1 homolog |
|
ISO |
mRNA:increased expression:cochlea |
RGD |
PMID:21219967 |
RGD:10766449 |
NCBI chr 6:17,233,863...17,245,451
Ensembl chr 6:17,233,858...17,245,451
|
|
G |
OGG1 |
8-oxoguanine DNA glycosylase |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:p.S326C (rs1052133) (human) |
CTD RGD |
PMID:24599382 |
RGD:8657374 |
NCBI chr13:66,038,669...66,045,478
|
|
G |
PON2 |
paraoxonase 2 |
susceptibility |
ISO |
DNA:SNPs: :multiple |
RGD |
PMID:23327886 |
RGD:8661240 |
NCBI chr 9:75,027,270...75,051,441
Ensembl chr 9:75,027,097...75,051,422
|
|
G |
PROC |
protein C, inactivator of coagulation factors Va and VIIIa |
treatment |
ISO |
|
RGD |
PMID:25108045 |
RGD:11100045 |
NCBI chr15:25,043,543...25,054,310
Ensembl chr15:25,043,545...25,056,595
|
|
G |
PTGER4 |
prostaglandin E receptor 4 |
resistance |
ISO |
|
RGD |
PMID:22198478 |
RGD:6483524 |
NCBI chr16:25,670,832...25,686,556
Ensembl chr16:25,670,862...25,686,552
|
|
G |
SELL |
selectin L |
|
ISO |
|
RGD |
PMID:22044737 |
RGD:5685697 |
NCBI chr 4:81,306,363...81,325,296
Ensembl chr 4:81,306,353...81,326,444
|
|
G |
SLC26A5 |
solute carrier family 26 member 5 |
|
ISO |
mRNA, protein:increased expression:cochlea (mouse) |
RGD |
PMID:24376553 |
RGD:9585684 |
NCBI chr 9:103,382,558...103,420,054
Ensembl chr 9:103,378,776...103,453,730
|
|
G |
SOD1 |
superoxide dismutase 1 |
susceptibility severity |
ISO |
DNA:snps, haplotypes:introns:multiple (human) DNA:snps:introns:IVS2+193T>G (rs10432782), IVS3-251A>G (rs2070424) (human) |
RGD |
PMID:10436316 PMID:19895330 PMID:22931816 |
RGD:8655611 RGD:8655851 RGD:8655966 |
NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
|
|
G |
SOD2 |
superoxide dismutase 2 |
susceptibility |
ISO |
DNA:SNP:cds:p.V16A(rs4880)(human) DNA:polymorphisms:intron:IVS3-23T>G, IVS3-60T>G (human) |
RGD |
PMID:15345661 PMID:20534900 |
RGD:8158044 RGD:8158046 |
NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
|
|
G |
SRC |
SRC proto-oncogene, non-receptor tyrosine kinase |
treatment |
ISO |
|
RGD |
PMID:21840347 |
RGD:11554196 |
NCBI chr17:40,470,970...40,524,862
Ensembl chr17:40,471,009...40,524,860
|
|
G |
TAOK1 |
TAO kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23472202 |
|
NCBI chr12:45,597,067...45,750,117
Ensembl chr12:45,597,072...45,744,356
|
|
G |
TNF |
tumor necrosis factor |
|
ISO |
mRNA:increased expression:cochlea: |
RGD |
PMID:19051071 |
RGD:7394705 |
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
|
|
|
G |
GATAD1 |
GATA zinc finger domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C |
ClinVar |
PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 PMID:12032265 PMID:12402331 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:16199547 PMID:17055079 PMID:17576681 PMID:19105186 PMID:20952722 PMID:21031596 PMID:21844578 PMID:21846392 PMID:25326635 PMID:25525159 PMID:25741868 PMID:25741916 PMID:26319495 PMID:26387595 PMID:26467025 PMID:27124789 PMID:27302843 PMID:27353947 PMID:27469511 PMID:27848944 PMID:28446956 PMID:28492532 PMID:29261186 PMID:29419819 PMID:30561787 PMID:30733538 PMID:31374812 PMID:31628608 PMID:31831025 PMID:31964843 PMID:32203225 PMID:32483926 PMID:33083013 PMID:33708531 PMID:33955040 PMID:33955814 PMID:34513757 More...
|
|
NCBI chr 9:72,360,321...72,370,064
Ensembl chr 9:72,360,483...72,368,607
|
|
G |
PEX1 |
peroxisomal biogenesis factor 1 |
|
ISO |
ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C |
OMIM ClinVar |
PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 PMID:9536098 PMID:9539740 PMID:10384394 PMID:10447258 PMID:10480353 PMID:11389485 PMID:11439091 PMID:12032265 PMID:12402331 PMID:15098231 PMID:15542397 PMID:16086329 PMID:16088892 PMID:16141001 PMID:16199547 PMID:17055079 PMID:17576681 PMID:19105186 PMID:19877282 PMID:20301621 PMID:20952722 PMID:21031596 PMID:21844578 PMID:21846392 PMID:21862673 PMID:22871920 PMID:23247051 PMID:23757202 PMID:24033266 PMID:24503136 PMID:25133751 PMID:25326635 PMID:25412400 PMID:25525159 PMID:25741868 PMID:25741916 PMID:26219880 PMID:26287655 PMID:26319495 PMID:26387595 PMID:26467025 PMID:26594346 PMID:26643206 PMID:27090541 PMID:27124789 PMID:27231023 PMID:27302843 PMID:27353947 PMID:27469511 PMID:27848944 PMID:27872819 PMID:27882258 PMID:28432012 PMID:28446956 PMID:28454995 PMID:28468868 PMID:28492532 PMID:29261186 PMID:29419819 PMID:30362618 PMID:30561787 PMID:30733538 PMID:31374812 PMID:31628608 PMID:31742715 PMID:31831025 PMID:31964843 PMID:32203225 PMID:32483926 PMID:32959227 PMID:33083013 PMID:33708531 PMID:33955040 PMID:33955814 PMID:34448047 PMID:34513757 PMID:34744965 More...
|
|
NCBI chr 9:72,385,755...72,444,718
Ensembl chr 9:72,385,475...72,444,582
|
|
G |
PEX26 |
peroxisomal biogenesis factor 26 |
|
ISO |
ClinVar Annotator: match by term: Heimler syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:70,133,024...70,142,515
Ensembl chr 5:70,133,024...70,142,503
|
|
G |
PEX6 |
peroxisomal biogenesis factor 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 7:38,039,852...38,052,384
Ensembl chr 7:38,039,862...38,052,369
|
|
|
G |
GJB2 |
gap junction protein beta 2 |
|
ISO |
ClinVar Annotator: match by term: HID SYNDROME | ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness |
OMIM ClinVar |
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 PMID:2956987 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:9856479 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID: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:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10980526 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11918723 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12064630 PMID:12072059 PMID:12081719 PMID:12111646 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12548749 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12673800 PMID:12684873 PMID:12746422 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12872268 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14643477 PMID:14691997 PMID:14694360 PMID: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:15633193 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15757815 PMID:15769851 PMID:15790391 PMID:15832357 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16154643 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16645853 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17309986 PMID:17330861 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17431919 PMID:17444514 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17576681 PMID:17581693 PMID:17660464 PMID:17661817 PMID:17666888 PMID:17671735 PMID:17935238 PMID:17993581 PMID:18196482 PMID:18294064 PMID:18324688 PMID:18353197 PMID:18414213 PMID:18451998 PMID:18560174 PMID:18570691 PMID:18607988 PMID:18668259 PMID:18684989 PMID:18758381 PMID:18776652 PMID:18804553 PMID:18843290 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19384972 PMID:19465004 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19719946 PMID:19723508 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:20101161 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20441744 PMID:20497192 PMID:20553101 PMID:20563649 PMID:20593197 PMID:20607074 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 PMID:20956747 PMID:20981092 PMID:21055240 PMID:21094084 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21298213 PMID:21298644 PMID:21366436 PMID:21392827 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21738759 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21836520 PMID:21844220 PMID:21910243 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22037723 PMID:22103400 PMID:22106692 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: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:23797420 PMID:23804846 PMID:23826813 PMID:23873582 PMID:23900770 PMID:23924173 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24158896 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 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: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:25575739 PMID:25587757 PMID:25625422 PMID:25628337 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25741895 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26482070 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26763877 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27141831 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 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:28271504 PMID:28383030 PMID:28428247 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28651654 PMID:28704896 PMID:28900111 PMID:29062245 PMID:29106882 PMID:29148562 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29625052 PMID:29773520 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30086704 PMID:30094485 PMID:30146550 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30466042 PMID:30589569 PMID:30693673 PMID:30828346 PMID:30872814 PMID:30896630 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31195736 PMID:31346875 PMID:31370293 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31827275 PMID:31980526 PMID:31992338 PMID:32090102 PMID:32258544 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33187236 PMID:33333757 PMID:33524517 PMID:33597575 PMID:33614373 PMID:33928925 PMID:34062854 PMID:34335733 PMID:34440441 PMID:34515852 PMID:34652575 PMID:35016843 PMID:35396755 PMID:35864128 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 More...
|
|
NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
|
|
|
G |
SLITRK6 |
SLIT and NTRK like family member 6 |
|
ISO |
ClinVar Annotator: match by term: Deafness and myopia | ClinVar Annotator: match by term: High myopia-sensorineural deafness syndrome |
OMIM ClinVar |
PMID:23543054 PMID:23946138 PMID:24033266 PMID:25363768 PMID:25741868 PMID:28407358 PMID:28492532 PMID:30311386 More...
|
|
NCBI chr11:56,508,713...56,522,270
Ensembl chr11:56,508,767...56,522,197
|
|
|
G |
TNF |
tumor necrosis factor |
|
ISO |
|
RGD |
PMID:23996384 |
RGD:7394699 |
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
|
|
|
G |
SLC29A3 |
solute carrier family 29 member 3 |
|
ISO |
ClinVar Annotator: match by term: Faisalabad histiocytosis | ClinVar Annotator: match by term: H syndrome | ClinVar Annotator: match by term: Histiocytosis-lymphadenopathy plus syndrome |
OMIM ClinVar |
PMID:9536098 PMID:9545394 PMID:16118898 PMID:16155931 PMID:16199547 PMID:16650224 PMID:17461801 PMID:17576681 PMID:18414213 PMID:18940313 PMID:18947330 PMID:19175903 PMID:19336477 PMID:19889517 PMID:20140240 PMID:20199539 PMID:20595384 PMID:20619369 PMID:21178579 PMID:21888995 PMID:22238637 PMID:22653152 PMID:22679148 PMID:22875837 PMID:23406517 PMID:23530176 PMID:23789599 PMID:24172204 PMID:24894595 PMID:25741868 PMID:25963354 PMID:25967258 PMID:26074390 PMID:27143505 PMID:27215564 PMID:27364927 PMID:28492532 PMID:28554179 PMID:29041934 PMID:29751792 PMID:29808591 PMID:30537558 PMID:30783801 PMID:31276222 PMID:31464584 PMID:32151906 PMID:33837634 PMID:33947670 More...
|
|
NCBI chr14:74,222,988...74,267,527
Ensembl chr14:74,223,115...74,274,646
|
|
|
G |
CHD7 |
chromodomain helicase DNA binding protein 7 |
|
ISO |
ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome |
ClinVar |
PMID:9536098 PMID:16763960 PMID:17576681 PMID:17661815 PMID:18073582 PMID:18414213 PMID:18834967 PMID:21158681 PMID:21554267 PMID:22461308 PMID:25077900 PMID:25741868 PMID:28492532 PMID:29419413 PMID:30311386 PMID:34837038 More...
|
|
NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146
|
|
G |
EP300 |
E1A binding protein p300 |
|
ISO |
ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome |
ClinVar |
PMID:29300383 |
|
NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760
|
|
G |
PUF60 |
poly(U) binding splicing factor 60 |
|
ISO |
ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome |
ClinVar |
PMID:25741868 PMID:29300383 |
|
NCBI chr 4:812,137...824,321
Ensembl chr 4:812,131...824,318
|
|
G |
SEMA3E |
semaphorin 3E |
|
ISO |
ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome |
ClinVar |
PMID:9536098 PMID:15235037 PMID:17576681 PMID:25741868 PMID:25985275 PMID:28492532 PMID:30773290 PMID:32870266 More...
|
|
NCBI chr 9:96,682,178...96,941,074
Ensembl chr 9:96,682,246...96,941,072
|
|
|
G |
KCNJ16 |
potassium inwardly rectifying channel subfamily J member 16 |
|
ISO |
ClinVar Annotator: match by term: Hypokalemic tubulopathy and deafness |
OMIM ClinVar |
PMID:33811157 |
|
NCBI chr12:10,393,172...10,538,423
Ensembl chr12:10,393,179...10,558,169
|
|
|
G |
ACBD7 |
acyl-CoA binding domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:46,740,570...46,751,208
Ensembl chr10:46,740,585...46,750,606
|
|
G |
AKR1C1 |
aldo-keto reductase family 1, member C1 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:65,580,297...65,594,998
Ensembl chr10:65,576,464...65,678,248
|
|
G |
AKR1E2 |
aldo-keto reductase family 1 member E2 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:65,680,314...65,704,701
Ensembl chr10:65,680,332...65,702,190
|
|
G |
ANKRD16 |
ankyrin repeat domain 16 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:65,109,043...65,149,416
Ensembl chr10:65,109,086...65,122,186
|
|
G |
ARL5B |
ADP ribosylation factor like GTPase 5B |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:55,675,129...55,700,389
Ensembl chr10:55,675,138...55,700,305
|
|
G |
ASB13 |
ankyrin repeat and SOCS box containing 13 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:65,274,476...65,302,345
Ensembl chr10:65,275,532...65,303,223
|
|
G |
ATP5F1C |
ATP synthase F1 subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:63,584,288...63,599,537
Ensembl chr10:63,583,695...63,599,453
|
|
G |
BEND7 |
BEN domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:48,177,594...48,264,083
Ensembl chr10:48,177,762...48,262,051
|
|
G |
C1QL3 |
complement C1q like 3 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:45,357,247...45,368,901
Ensembl chr10:45,359,461...45,368,803
|
|
G |
CACNB2 |
calcium voltage-gated channel auxiliary subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:44,321,954...44,887,410
Ensembl chr10:44,421,485...44,886,425
|
|
G |
CALML5 |
calmodulin like 5 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:65,405,928...65,407,306
Ensembl chr10:65,406,633...65,407,082
|
|
G |
CAMK1D |
calcium/calmodulin dependent protein kinase ID |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:59,199,541...59,630,191
Ensembl chr10:59,204,724...59,630,285
|
|
G |
CDC123 |
cell division cycle 123 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:59,718,340...59,765,621
Ensembl chr10:59,718,340...59,765,621
|
|
G |
CDNF |
cerebral dopamine neurotrophic factor |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:46,935,530...46,963,926
|
|
G |
CELF2 |
CUGBP Elav-like family member 2 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:60,504,925...60,867,631
Ensembl chr10:60,506,504...61,084,960
|
|
G |
CUBN |
cubilin |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:43,102,931...43,414,692
Ensembl chr10:43,102,946...43,414,758
|
|
G |
DCLRE1C |
DNA cross-link repair 1C |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:46,820,016...46,863,848
Ensembl chr10:46,820,053...46,868,028
|
|
G |
DHTKD1 |
dehydrogenase E1 and transketolase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:59,820,418...59,875,322
Ensembl chr10:59,820,423...59,875,290
|
|
G |
ECHDC3 |
enoyl-CoA hydratase domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:60,117,425...60,138,662
Ensembl chr10:60,117,433...60,138,588
|
|
G |
FAM107B |
family with sequence similarity 107 member B |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:47,140,776...47,223,386
|
|
G |
FAM171A1 |
family with sequence similarity 171 member A1 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:46,449,781...46,601,093
Ensembl chr10:46,449,781...46,601,087
|
|
G |
FBH1 |
F-box DNA helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:65,060,714...65,108,975
Ensembl chr10:65,060,312...65,108,379
|
|
G |
FRMD4A |
FERM domain containing 4A |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:47,384,867...48,048,948
Ensembl chr10:47,384,861...48,049,706
|
|
G |
GATA3 |
GATA binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: GATA3-related condition | ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
OMIM ClinVar |
PMID:9536098 PMID:10935639 PMID:11389161 PMID:14985365 PMID:15705923 PMID:16199547 PMID:16912130 PMID:17210674 PMID:17309062 PMID:17576681 PMID:18621058 PMID:19057839 PMID:19248180 PMID:19253381 PMID:21120445 PMID:21242646 PMID:21834031 PMID:23052618 PMID:23142663 PMID:23435732 PMID:24033266 PMID:24728327 PMID:25137426 PMID:25741868 PMID:25741912 PMID:26282285 PMID:26316437 PMID:26467025 PMID:26514990 PMID:27387476 PMID:28492532 PMID:28566604 PMID:30143558 PMID:30311386 PMID:30396722 PMID:30534854 PMID:31433868 PMID:32442337 PMID:33120464 PMID:35802133 PMID:36633841 More...
|
|
NCBI chr10:63,367,684...63,397,977
Ensembl chr10:63,367,663...63,388,859
|
|
G |
GDI2 |
GDP dissociation inhibitor 2 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:65,160,700...65,196,447
Ensembl chr10:65,160,653...65,196,447
|
|
G |
HACD1 |
3-hydroxyacyl-CoA dehydratase 1 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:43,901,590...43,929,441
Ensembl chr10:43,897,162...43,929,409
|
|
G |
HSPA14 |
heat shock protein family A (Hsp70) member 14 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:46,908,161...46,935,323
Ensembl chr10:46,904,311...46,935,280 Ensembl chr10:46,904,311...46,935,280
|
|
G |
IL15RA |
interleukin 15 receptor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:65,022,227...65,054,385
|
|
G |
IL2RA |
interleukin 2 receptor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:64,948,149...65,001,320
Ensembl chr10:64,948,563...65,001,142
|
|
G |
ITGA8 |
integrin subunit alpha 8 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:46,132,887...46,303,659
Ensembl chr10:46,132,913...46,303,343
|
|
G |
ITIH2 |
inter-alpha-trypsin inhibitor heavy chain 2 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:63,635,206...63,672,200
Ensembl chr10:63,635,210...63,672,163
|
|
G |
ITIH5 |
inter-alpha-trypsin inhibitor heavy chain 5 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:63,688,416...63,764,566
Ensembl chr10:63,688,427...63,767,118
|
|
G |
KIN |
Kin17 DNA and RNA binding protein |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:63,599,612...63,634,844
Ensembl chr10:63,599,632...63,631,001
|
|
G |
LOC100510975 |
coiled-coil domain-containing protein 3 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:59,052,979...59,144,791
Ensembl chr10:59,052,915...59,144,797
|
|
G |
LOC100524391 |
putative methyltransferase NSUN6 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:44,884,179...44,958,024
Ensembl chr10:44,891,257...44,958,004
|
|
G |
MCM10 |
minichromosome maintenance 10 replication initiation factor |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:48,481,292...48,523,921
Ensembl chr10:48,480,705...48,538,952
|
|
G |
MEIG1 |
meiosis/spermiogenesis associated 1 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:46,771,820...46,800,955
Ensembl chr10:46,786,841...46,800,323
|
|
G |
MINDY3 |
MINDY lysine 48 deubiquitinase 3 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:45,980,088...46,062,700
Ensembl chr10:45,980,111...46,062,700
|
|
G |
NET1 |
neuroepithelial cell transforming 1 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:65,428,013...65,438,346
Ensembl chr10:65,425,011...65,459,754
|
|
G |
NMT2 |
N-myristoyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:46,647,167...46,722,519
Ensembl chr10:46,647,179...46,722,518
|
|
G |
NUDT5 |
nudix hydrolase 5 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:59,765,444...59,787,773
Ensembl chr10:59,765,703...59,790,157
|
|
G |
OLAH |
oleoyl-ACP hydrolase |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:46,752,241...46,770,881
Ensembl chr10:46,752,243...46,771,986
|
|
G |
OPTN |
optineurin |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:48,532,029...48,582,952
Ensembl chr10:48,530,843...48,582,860
|
|
G |
PFKFB3 |
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:64,776,315...64,859,118
Ensembl chr10:64,776,315...64,802,287
|
|
G |
PHYH |
phytanoyl-CoA 2-hydroxylase |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:48,404,298...48,423,978
Ensembl chr10:48,404,293...48,423,973
|
|
G |
PRKCQ |
protein kinase C theta |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:64,442,588...64,596,528
Ensembl chr10:64,458,180...64,600,339
|
|
G |
PROSER2 |
proline and serine rich 2 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:60,033,509...60,077,360
Ensembl chr10:60,033,531...60,058,496
|
|
G |
PRPF18 |
pre-mRNA processing factor 18 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:48,062,229...48,122,222
Ensembl chr10:48,061,728...48,164,499
|
|
G |
PTER |
phosphotriesterase related |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:45,368,515...45,440,294
Ensembl chr10:45,362,928...45,440,215
|
|
G |
RBM17 |
RNA binding motif protein 17 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:64,886,433...64,909,006
Ensembl chr10:64,885,870...64,908,963
|
|
G |
RPP38 |
ribonuclease P/MRP subunit p38 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:46,720,135...46,725,962
Ensembl chr10:46,717,197...46,725,920
|
|
G |
RSU1 |
Ras suppressor protein 1 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:45,079,014...45,492,073
Ensembl chr10:45,079,007...45,289,422
|
|
G |
SEC61A2 |
SEC61 translocon subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:59,790,073...59,817,039
Ensembl chr10:59,773,852...59,817,010
|
|
G |
SEPHS1 |
selenophosphate synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:48,359,379...48,385,787
Ensembl chr10:48,362,463...48,386,431
|
|
G |
SFMBT2 |
Scm like with four mbt domains 2 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:63,877,033...64,070,867
Ensembl chr10:63,877,586...64,070,770
|
|
G |
SLC39A12 |
solute carrier family 39 member 12 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:44,239,279...44,320,974
Ensembl chr10:44,239,274...44,320,971
|
|
G |
ST8SIA6 |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:43,601,677...43,755,154
Ensembl chr10:43,602,908...43,755,277
|
|
G |
STAM |
signal transducing adaptor molecule |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:43,946,990...44,016,064
Ensembl chr10:43,947,011...44,016,056
|
|
G |
SUV39H2 |
SUV39H2 histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:46,874,606...46,900,058
Ensembl chr10:46,873,126...46,900,040
|
|
G |
TAF3 |
TATA-box binding protein associated factor 3 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:63,422,184...63,576,400
Ensembl chr10:63,422,204...63,576,378
|
|
G |
TASOR2 |
transcription activation suppressor family member 2 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:65,197,581...65,268,473
Ensembl chr10:65,197,584...65,252,646
|
|
G |
TRDMT1 |
tRNA aspartic acid methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:43,434,148...43,494,924
Ensembl chr10:43,434,444...43,493,892
|
|
G |
TUBAL3 |
tubulin alpha like 3 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:65,476,215...65,487,334
Ensembl chr10:65,476,227...65,488,116
|
|
G |
UCMA |
upper zone of growth plate and cartilage matrix associated |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:48,460,713...48,471,213
Ensembl chr10:48,460,688...48,471,286
|
|
G |
UCN3 |
urocortin 3 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:65,491,231...65,495,879
|
|
G |
UPF2 |
UPF2 regulator of nonsense mediated mRNA decay |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:59,893,106...59,993,403
Ensembl chr10:59,898,922...60,090,229
|
|
G |
USP6NL |
USP6 N-terminal like |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:60,193,505...60,398,399
Ensembl chr10:60,241,016...60,391,642
|
|
G |
VIM |
vimentin |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:43,516,441...43,526,172
Ensembl chr10:43,517,307...43,526,170
|
|
|
G |
AP1B1 |
adaptor related protein complex 1 subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive keratitis-ichthyosis-deafness syndrome |
OMIM ClinVar |
PMID:25741868 PMID:31630788 PMID:31630791 PMID:32969855 PMID:33349978 PMID:33452671 PMID:35144013 More...
|
|
NCBI chr14:46,469,462...46,520,175
Ensembl chr14:46,469,430...46,520,153
|
|
|
G |
IGF1 |
insulin like growth factor 1 |
|
ISO |
ClinVar Annotator: match by term: Growth retardation with sensorineural deafness and mental retardation | ClinVar Annotator: match by term: Insulin-like growth factor I deficiency |
OMIM ClinVar |
PMID:8857020 PMID:15769976 PMID:18317720 PMID:19240240 PMID:21915365 PMID:22832530 PMID:24033266 PMID:24389050 PMID:24664114 PMID:25741868 PMID:28492532 PMID:30214071 More...
|
|
NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
|
|
|
G |
ITM2B |
integral membrane protein 2B |
|
ISO |
ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica |
OMIM ClinVar |
PMID:5457846 PMID:10781099 PMID:25741868 PMID:28492532 PMID:31719132 |
|
NCBI chr11:19,349,088...19,377,931
Ensembl chr11:19,349,134...19,377,917
|
|
|
G |
SALL4 |
spalt like transcription factor 4 |
|
ISO |
ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders |
OMIM ClinVar |
PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532 |
|
NCBI chr17:53,082,610...53,103,023
Ensembl chr17:53,084,310...53,103,190
|
|
|
G |
UBR1 |
ubiquitin protein ligase E3 component n-recognin 1 |
|
ISO |
ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness |
OMIM ClinVar |
PMID:16311597 PMID:18553553 PMID:19006206 PMID:23778732 PMID:24033266 PMID:24599544 PMID:25741868 PMID:28492532 PMID:29178640 More...
|
|
NCBI chr 1:128,319,311...128,474,330
Ensembl chr 1:128,319,311...128,474,302
|
|
|
G |
GPC4 |
glypican 4 |
|
ISO |
ClinVar Annotator: match by term: Keipert syndrome |
OMIM ClinVar |
PMID:4708024 PMID:25741868 PMID:30982611 |
|
NCBI chr X:109,306,489...109,421,947
Ensembl chr X:109,306,368...109,421,785
|
|
|
G |
GJB2 |
gap junction protein beta 2 |
|
ISO |
ClinVar Annotator: match by term: Keratitis-Ichthyosis-Deafness Syndrome |
ClinVar |
PMID:22567369 |
|
NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
|
|
|
G |
C14H12orf43 |
chromosome 14 C12orf43 homolog |
|
ISO |
ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive |
ClinVar |
PMID:30561130 |
|
NCBI chr14:40,888,642...40,899,097
Ensembl chr14:40,886,053...40,899,037
|
|
G |
HNF1A |
HNF1 homeobox A |
|
ISO |
ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive |
ClinVar |
PMID:30561130 |
|
NCBI chr14:40,868,819...40,888,322
Ensembl chr14:40,868,676...40,888,328
|
|
G |
VPS33B |
VPS33B late endosome and lysosome associated |
|
ISO |
ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive |
OMIM ClinVar |
PMID:25741868 PMID:28017832 |
|
NCBI chr 7:55,840,612...55,865,045
Ensembl chr 7:55,840,607...55,865,716
|
|
|
G |
SLC12A2 |
solute carrier family 12 member 2 |
|
ISO |
ClinVar Annotator: match by term: Kilquist syndrome |
OMIM ClinVar |
PMID:25741868 PMID:25741909 PMID:25741913 PMID:28492532 PMID:30740830 PMID:32658972 PMID:32754646 More...
|
|
NCBI chr 2:131,016,430...131,109,307
Ensembl chr 2:131,016,418...131,109,299
|
|
|
G |
FGF10 |
fibroblast growth factor 10 |
|
ISO |
ClinVar Annotator: match by term: Levy-Hollister syndrome |
ClinVar |
PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 |
|
NCBI chr16:28,695,465...28,779,953
Ensembl chr16:28,695,470...28,777,509
|
|
G |
FGFR2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Levy-Hollister syndrome |
OMIM ClinVar |
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8696350 PMID:8957519 PMID:9002682 PMID:9462761 PMID:9677057 PMID:9700203 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16501574 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:18056630 PMID:18414213 PMID:18552176 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23786770 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26380986 PMID:26467025 PMID:26619011 PMID:27079505 PMID:28492532 PMID:31145570 PMID:31502745 More...
|
|
NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425
|
|
G |
FGFR3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Levy-Hollister syndrome |
ClinVar |
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589699 PMID:8640234 PMID:8673103 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9438390 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11879084 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16501574 PMID:16766665 PMID:16841094 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:23056398 PMID:24728327 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25741914 PMID:25741916 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28483234 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29681095 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:32715658 PMID:33942288 More...
|
|
NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964
|
|
|
G |
FGFR3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 2 |
OMIM ClinVar |
|
|
NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964
|
|
|
G |
FGF10 |
fibroblast growth factor 10 |
|
ISO |
ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 3 |
OMIM ClinVar |
PMID:15654336 PMID:16501574 PMID:16630169 PMID:37077496 |
|
NCBI chr16:28,695,465...28,779,953
Ensembl chr16:28,695,470...28,777,509
|
|
|
G |
FGF10 |
fibroblast growth factor 10 |
|
ISO |
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome |
ClinVar |
PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 |
|
NCBI chr16:28,695,465...28,779,953
Ensembl chr16:28,695,470...28,777,509
|
|
G |
FGFR2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome |
ClinVar |
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8696350 PMID:8957519 PMID:9002682 PMID:9462761 PMID:9677057 PMID:9700203 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16501574 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:18056630 PMID:18414213 PMID:18552176 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23786770 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26380986 PMID:26467025 PMID:26619011 PMID:27079505 PMID:28492532 PMID:31145570 PMID:31502745 More...
|
|
NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425
|
|
G |
FGFR3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome |
ClinVar |
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589699 PMID:8640234 PMID:8673103 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9438390 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11879084 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16501574 PMID:16766665 PMID:16841094 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:23056398 PMID:24728327 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25741914 PMID:25741916 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28483234 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29681095 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:32715658 PMID:33942288 More...
|
|
NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964
|
|
|
G |
KARS1 |
lysyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS | ClinVar Annotator: match by term: Leukoencephalopathy, progressive, infantile-onset, with or without deafness |
OMIM ClinVar |
PMID:21181198 PMID:21427441 PMID:23596069 PMID:23768514 PMID:24824130 PMID:25330800 PMID:25356970 PMID:25741868 PMID:26741492 PMID:27243033 PMID:28492532 PMID:28887846 PMID:29615062 PMID:30252186 PMID:30369941 PMID:30715177 PMID:31116475 PMID:32730690 PMID:33260297 PMID:33942428 PMID:34172899 More...
|
|
NCBI chr 6:12,057,475...12,073,749
Ensembl chr 6:12,056,571...12,073,748
|
|
|
G |
POLD1 |
DNA polymerase delta 1, catalytic subunit |
susceptibility |
ISO |
ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome |
ClinVar OMIM |
PMID:9536098 PMID:17576681 PMID:23770608 PMID:24033266 PMID:25529843 PMID:25583476 PMID:25637381 PMID:25741868 PMID:25938944 PMID:26467025 PMID:26580448 PMID:26648449 PMID:28125075 PMID:28492532 PMID:29056344 PMID:30093976 PMID:30680046 PMID:30827058 PMID:31780696 PMID:32792570 PMID:32885271 PMID:33193653 PMID:33332384 PMID:35264596 More...
|
|
NCBI chr 6:55,247,799...55,272,087
Ensembl chr 6:55,247,880...55,272,085
|
|
|
G |
COL11A1 |
collagen type XI alpha 1 chain |
susceptibility |
ISO |
ClinVar Annotator: match by term: Deafness, myopia, cataract, saddle nose-Marshall type | ClinVar Annotator: match by term: Marshall syndrome |
ClinVar OMIM |
PMID:9129742 PMID:9529347 PMID:9536098 PMID:9792885 PMID:10486316 PMID:13520885 PMID:17236192 PMID:17576681 PMID:17999364 PMID:19449424 PMID:20513134 PMID:25240749 PMID:25741868 PMID:26377240 PMID:26467025 PMID:28492532 PMID:32381727 PMID:32578940 PMID:32756486 PMID:32963807 More...
|
|
NCBI chr 4:115,638,381...115,841,679
Ensembl chr 4:115,634,172...115,840,708
|
|
G |
PCDH12 |
protocadherin 12 |
|
ISO |
ClinVar Annotator: match by term: Marshall syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 2:143,550,844...143,565,028
Ensembl chr 2:143,550,849...143,565,033
|
|
G |
RNF14 |
ring finger protein 14 |
|
ISO |
ClinVar Annotator: match by term: Marshall syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 2:143,574,901...143,595,601
Ensembl chr 2:143,551,274...143,595,592
|
|
G |
RNPC3 |
RNA binding region (RNP1, RRM) containing 3 |
|
ISO |
ClinVar Annotator: match by term: Marshall syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:115,279,557...115,311,960
Ensembl chr 4:115,288,276...115,311,652
|
|
|
G |
COL11A1 |
collagen type XI alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Marshall/Stickler syndrome |
ClinVar |
PMID:1536174 PMID:10486316 |
|
NCBI chr 4:115,638,381...115,841,679
Ensembl chr 4:115,634,172...115,840,708
|
|
|
G |
HOXA1 |
homeobox A1 |
|
ISO |
ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate |
ClinVar |
PMID:25741868 |
|
NCBI chr18:45,477,561...45,480,306
Ensembl chr18:45,477,461...45,480,152
|
|
G |
HOXA2 |
homeobox A2 |
|
ISO |
ClinVar Annotator: match by term: Microtia with or without hearing impairment | ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate |
OMIM ClinVar |
PMID:18394579 PMID:23775976 PMID:25691070 PMID:25741868 |
|
NCBI chr18:45,470,079...45,473,345
Ensembl chr18:45,470,862...45,473,876
|
|
|
G |
AMMECR1 |
AMMECR nuclear protein 1 |
|
ISO |
ClinVar Annotator: match by term: AMMECR1-related condition | ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis |
OMIM ClinVar |
PMID:21681106 PMID:25741868 PMID:27811305 PMID:28089922 PMID:28492532 PMID:29174631 PMID:29193635 More...
|
|
NCBI chr X:90,304,918...90,420,207
Ensembl chr X:90,307,187...90,420,168
|
|
G |
RTL9 |
retrotransposon Gag like 9 |
|
ISO |
ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis |
ClinVar |
|
|
NCBI chr X:90,553,099...90,565,001
Ensembl chr X:90,559,021...90,565,035
|
|
G |
TMEM164 |
transmembrane protein 164 |
|
ISO |
ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis |
ClinVar |
PMID:21681106 PMID:27811305 PMID:28089922 |
|
NCBI chr X:90,105,293...90,289,674
Ensembl chr X:90,106,036...90,289,669
|
|
|
G |
ACOX1 |
acyl-CoA oxidase 1 |
|
ISO |
ClinVar Annotator: match by term: Mitchell syndrome |
OMIM ClinVar |
PMID:8040306 PMID:16199547 PMID:17458872 PMID:25741868 PMID:28492532 PMID:32169171 More...
|
|
NCBI chr12:5,450,913...5,479,550
Ensembl chr12:5,439,361...5,479,546
|
|
|
G |
PNPLA8 |
patatin like phospholipase domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Mitochondrial myopathy with lactic acidosis |
OMIM ClinVar |
PMID:19840936 PMID:25512002 PMID:25741868 PMID:28492532 PMID:29681094 PMID:34782754 More...
|
|
NCBI chr 9:108,271,343...108,320,574
Ensembl chr 9:108,269,830...108,320,267
|
|
|
G |
MT-CO1 |
mitochondrially encoded cytochrome c oxidase I |
|
ISO |
ClinVar Annotator: match by term: Deafness, nonsyndromic sensorineural, mitochondrial |
ClinVar |
PMID:127819 PMID:1322638 PMID:1634041 PMID:1732158 PMID:6213205 PMID:7219534 PMID:7987332 PMID:8019558 PMID:8060346 PMID:8240356 PMID:8572257 PMID:8680405 PMID:9450881 PMID:9742104 PMID:10577941 PMID:11069477 PMID:11175301 PMID:16152638 PMID:17659260 PMID:18639500 PMID:20301595 PMID:25741868 PMID:31965079 PMID:32906214 More...
|
|
NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055
|
|
G |
MT-ND1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, nonsyndromic sensorineural, mitochondrial |
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: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:22241583 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...
|
|
NCBI chr MT:3,922...4,876
Ensembl chr MT:3,922...4,876
|
|
|
G |
GFER |
growth factor, augmenter of liver regeneration |
|
ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED | ClinVar Annotator: match by term: Myopathy with cataract and combined respiratory-chain deficiency | ClinVar Annotator: match by term: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay |
OMIM ClinVar |
PMID:8627443 PMID:16199547 PMID:18414213 PMID:19409522 PMID:20593814 PMID:25269795 PMID:25326635 PMID:25741868 PMID:26018198 PMID:26757139 PMID:26944241 PMID:28155230 PMID:28492532 PMID:28812649 PMID:28939701 PMID:34732400 More...
|
|
NCBI chr 3:39,981,938...39,984,451
Ensembl chr 3:39,981,940...39,984,991
|
|
G |
RYR1 |
ryanodine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Myopathy, progressive axial with cataracts |
ClinVar |
PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 PMID:22851008 PMID:23329375 PMID:23394784 PMID:24055113 PMID:24195946 PMID:24433488 PMID:25637381 PMID:25735680 PMID:25741868 PMID:26332594 PMID:26467025 PMID:27058611 PMID:27147545 PMID:27153395 PMID:28492532 PMID:30155738 PMID:30236257 PMID:30406384 PMID:30842289 PMID:33646171 PMID:33767344 PMID:35428369 PMID:35599849 More...
|
|
NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458
|
|
|
G |
MAP3K7 |
mitogen-activated protein kinase kinase kinase 7 |
|
ISO |
ClinVar Annotator: match by term: Cardiospondylocarpofacial syndrome |
OMIM ClinVar |
PMID:20186786 PMID:25741868 PMID:27426733 PMID:27426734 PMID:28492532 PMID:29467388 PMID:32105826 More...
|
|
NCBI chr 1:58,482,046...58,548,087
Ensembl chr 1:58,481,956...58,548,057
|
|
|
G |
IL1RN |
interleukin 1 receptor antagonist |
|
ISO |
|
RGD |
PMID:22146561 |
RGD:6906895 |
|
|
G |
NLRP3 |
NLR family pyrin domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar Annotator: match by term: UDA syndrome | ClinVar Annotator: match by term: Urticaria-deafness-amyloidosis syndrome |
OMIM ClinVar |
PMID:49161 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 PMID:12522564 PMID:14630794 PMID:14872505 PMID:15020601 PMID:15593220 PMID:16100350 PMID:16255047 PMID:16646042 PMID:17038455 PMID:17178739 PMID:17213252 PMID:17393462 PMID:17509468 PMID:18263599 PMID:18311798 PMID:19319132 PMID:19501000 PMID:20159265 PMID:20182451 PMID:20472245 PMID:21058222 PMID:21109514 PMID:21245836 PMID:21356079 PMID:21621776 PMID:21702021 PMID:21810457 PMID:22128899 PMID:22146561 PMID:22193915 PMID:22403613 PMID:22524199 PMID:22529966 PMID:22566169 PMID:22843550 PMID:22935299 PMID:23015306 PMID:23421920 PMID:23442610 PMID:23703389 PMID:24033266 PMID:24098386 PMID:24123366 PMID:24135410 PMID:24158955 PMID:24365011 PMID:24431285 PMID:24517500 PMID:24649046 PMID:24759409 PMID:24773462 PMID:25038238 PMID:25586466 PMID:25596455 PMID:25639832 PMID:25730877 PMID:25741868 PMID:25741909 PMID:25766347 PMID:25821352 PMID:25979514 PMID:26020059 PMID:26033552 PMID:26178285 PMID:26218404 PMID:26245507 PMID:26273672 PMID:26386126 PMID:26467025 PMID:26531310 PMID:26535712 PMID:26590045 PMID:26848126 PMID:26931528 PMID:27036377 PMID:27060062 PMID:27191192 PMID:27612399 PMID:27819323 PMID:27943240 PMID:27943647 PMID:27994174 PMID:28028683 PMID:28137891 PMID:28185410 PMID:28421071 PMID:28492532 PMID:28692792 PMID:29047407 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29159471 PMID:29322034 PMID:29922587 PMID:29977033 PMID:30214525 PMID:30407166 PMID:30431487 PMID:30808881 PMID:32082075 PMID:32199921 PMID:33329557 More...
|
|
NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228
|
|
|
G |
COL2A1 |
collagen type II alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, with myopia and conductive deafness | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia, Beighton type |
OMIM ClinVar |
PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9800905 PMID:17078022 PMID:17347327 PMID:18272325 PMID:18276201 PMID:19344236 PMID:22496037 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26467025 PMID:27390512 PMID:28018693 PMID:28492532 PMID:28983407 More...
|
|
NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,137...78,380,718
|
|
|
G |
FGF9 |
fibroblast growth factor 9 |
|
ISO |
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome |
ClinVar |
|
|
NCBI chr11:1,554,648...1,581,938
Ensembl chr11:1,554,763...1,582,408
|
|
G |
GDF5 |
growth differentiation factor 5 |
|
ISO |
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome |
ClinVar |
|
|
NCBI chr17:38,792,854...38,796,806
Ensembl chr17:38,792,187...38,797,005
|
|
G |
NOG |
noggin |
|
ISO |
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome |
OMIM ClinVar |
PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 PMID:16532400 PMID:17609215 PMID:20503332 PMID:25741868 More...
|
|
NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206
|
|
|
G |
GGPS1 |
geranylgeranyl diphosphate synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome |
OMIM ClinVar |
PMID:25741868 PMID:32403198 PMID:35869884 |
|
NCBI chr14:55,907,885...55,924,037
Ensembl chr14:55,908,674...55,923,988
|
|
|
G |
MYH9 |
myosin heavy chain 9 |
|
ISO |
ClinVar Annotator: match by term: MYH9-related disorder | ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | ClinVar Annotator: match by term: Sebastian platelet syndrome |
OMIM ClinVar |
PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:9536098 PMID:10603121 PMID:10739770 PMID:10973259 PMID:10973260 PMID:11023810 PMID:11093280 PMID:11159552 PMID:11590545 PMID:11752022 PMID:11776386 PMID:11935325 PMID:12237319 PMID:12533692 PMID:12621333 PMID:12649151 PMID:12792306 PMID:15339844 PMID:15613099 PMID:15667538 PMID:16098078 PMID:16162639 PMID:16818291 PMID:16969870 PMID:16978745 PMID:17146397 PMID:17576681 PMID:17655694 PMID:18059020 PMID:18330899 PMID:18676005 PMID:19450438 PMID:19557653 PMID:19572073 PMID:19967157 PMID:20002731 PMID:20301740 PMID:20416459 PMID:20588287 PMID:21542825 PMID:21833445 PMID:21908426 PMID:22123909 PMID:22477015 PMID:22627578 PMID:22995991 PMID:23123319 PMID:23144074 PMID:23207509 PMID:23349334 PMID:23409987 PMID:23804846 PMID:24033266 PMID:24123792 PMID:24130771 PMID:24186861 PMID:24643058 PMID:24875298 PMID:24890873 PMID:25077172 PMID:25505834 PMID:25741868 PMID:25741909 PMID:25752595 PMID:25949529 PMID:26056797 PMID:26226608 PMID:26346198 PMID:26382273 PMID:26387855 PMID:26467025 PMID:26969326 PMID:27068579 PMID:27610647 PMID:28059092 PMID:28492532 PMID:28780565 PMID:28983057 PMID:29068549 PMID:29090586 PMID:29532554 PMID:29679756 PMID:29782633 PMID:29907799 PMID:30245029 PMID:30311386 PMID:30471777 PMID:30720677 PMID:30916803 PMID:31064749 PMID:31308072 PMID:31555371 PMID:31562665 PMID:31937884 PMID:31977897 PMID:32100410 PMID:32545517 PMID:32581362 PMID:32604935 PMID:32746448 PMID:32757236 PMID:33004838 PMID:33532864 PMID:33710140 PMID:33718801 PMID:34355501 PMID:34619682 PMID:36100708 More...
|
|
NCBI chr 5:11,365,603...11,456,475
Ensembl chr 5:11,360,660...11,456,472
|
|
G |
TUBB1 |
tubulin beta 1 class VI |
|
ISO |
ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
ClinVar |
PMID:25741868 |
|
NCBI chr17:59,161,420...59,168,385
Ensembl chr17:59,161,420...59,168,385
|
|
|
G |
AFG2B |
AFG2 AAA ATPase homolog B |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with hearing loss and spasticity | ClinVar Annotator: match by term: SPATA5L1-associated disorder |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:34626583 |
|
NCBI chr 1:126,314,573...126,335,193
Ensembl chr 1:126,313,402...126,335,475
|
|
|
G |
ADAD1 |
adenosine deaminase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:101,644,084...101,715,418
Ensembl chr 8:101,673,571...101,715,494
|
|
G |
AFG2A |
AFG2 AAA ATPase homolog A |
|
ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25640679 PMID:25741868 PMID:26299366 PMID:26467025 PMID:27683084 PMID:28293831 PMID:28492532 PMID:28513609 PMID:29343804 PMID:29389922 PMID:30552426 PMID:31912665 More...
|
|
NCBI chr 8:100,918,331...101,241,099
Ensembl chr 8:100,917,319...101,241,099
|
|
G |
ANXA5 |
annexin A5 |
|
ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:102,387,833...102,420,868
Ensembl chr 8:102,388,103...102,425,750
|
|
G |
BBS12 |
Bardet-Biedl syndrome 12 |
|
ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES |
ClinVar |
PMID:26299366 PMID:28492532 |
|
NCBI chr 8:101,354,891...101,435,417
Ensembl chr 8:101,420,669...101,430,015
|
|
G |
BLTP1 |
bridge-like lipid transfer protein family member 1 |
|
ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:101,737,084...101,937,212
Ensembl chr 8:101,737,598...101,937,256
|
|
G |
CCNA2 |
cyclin A2 |
|
ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:102,260,346...102,266,274
Ensembl chr 8:102,260,215...102,266,309
|
|
G |
EXOSC9 |
exosome component 9 |
|
ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:102,265,656...102,278,179
Ensembl chr 8:102,264,470...102,278,164
|
|
G |
FGF2 |
fibroblast growth factor 2 |
|
ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES |
ClinVar |
PMID:26299366 PMID:28492532 |
|
NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916
|
|
G |
IL2 |
interleukin 2 |
|
ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
|
|
G |
IL21 |
interleukin 21 |
|
ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713
|
|
G |
NDNF |
neuron derived neurotrophic factor |
|
ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:103,047,783...103,094,800
Ensembl chr 8:102,996,281...103,088,230
|
|
G |
NUDT6 |
nudix hydrolase 6 |
|
ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES |
ClinVar |
PMID:26299366 PMID:28492532 |
|
NCBI chr 8:101,241,155...101,302,760
Ensembl chr 8:101,241,589...101,284,486
|
|
G |
PRDM5 |
PR/SET domain 5 |
|
ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:103,188,312...103,383,955
Ensembl chr 8:103,189,561...103,382,094
|
|
G |
QRFPR |
pyroglutamylated RFamide peptide receptor |
|
ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:102,745,001...102,791,366
Ensembl chr 8:102,745,450...102,794,896
|
|
G |
SMIM43 |
small integral membrane protein 43 |
|
ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:102,327,330...102,330,252
Ensembl chr 8:102,322,737...102,330,032
|
|
G |
SPRY1 |
sprouty RTK signaling antagonist 1 |
|
ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:100,449,476...100,863,780
Ensembl chr 8:100,450,266...100,863,446
|
|
G |
TNIP3 |
TNFAIP3 interacting protein 3 |
|
ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:102,892,427...102,990,902
Ensembl chr 8:102,892,366...102,991,848
|
|
G |
TRPC3 |
transient receptor potential cation channel subfamily C member 3 |
|
ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:102,129,539...102,206,512
Ensembl chr 8:102,129,611...102,206,946
|
|
|
G |
NRDE2 |
NRDE-2, necessary for RNA interference, domain containing |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss |
ClinVar |
PMID:35861243 |
|
NCBI chr 7:112,039,949...112,090,632
Ensembl chr 7:112,038,234...112,090,510
|
|
G |
PSMC1 |
proteasome 26S subunit, ATPase 1 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss |
ClinVar OMIM |
PMID:35861243 |
|
NCBI chr 7:112,027,904...112,041,360
Ensembl chr 7:112,027,921...112,041,489
|
|
|
G |
ACTG1 |
actin gamma 1 |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic genetic deafness |
ClinVar |
PMID:13680526 PMID:19477959 PMID:30311386 |
|
NCBI chr12:1,320,355...1,323,219
Ensembl chr12:1,313,641...1,323,217
|
|
G |
ALG10 |
ALG10 alpha-1,2-glucosyltransferase |
|
ISO |
|
MouseDO |
|
|
NCBI chr 5:40,416,335...40,423,026
|
|
G |
CDH23 |
cadherin related 23 |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness |
ClinVar |
PMID:15660226 PMID:16679490 PMID:17850630 PMID:18429043 PMID:19683999 PMID:21078986 PMID:21228398 PMID:21569298 PMID:22135276 PMID:22443853 PMID:22899989 PMID:22995991 PMID:23208854 PMID:23967202 PMID:24033266 PMID:24164807 PMID:24416283 PMID:24618850 PMID:24767429 PMID:25279224 PMID:25474345 PMID:25741868 PMID:25963016 PMID:26264712 PMID:26467025 PMID:26763877 PMID:26969326 PMID:27460420 PMID:27583405 PMID:27792758 PMID:28492532 PMID:29343940 PMID:30029624 PMID:30311386 PMID:30367262 PMID:30718709 PMID:32467589 PMID:32860223 More...
|
|
NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834
|
|
G |
CEACAM16 |
CEA cell adhesion molecule 16, tectorial membrane component |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness |
ClinVar |
PMID:25589040 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29703829 PMID:30514912 PMID:33111345 More...
|
|
NCBI chr 6:51,217,085...51,228,458
Ensembl chr 6:51,220,812...51,231,761
|
|
G |
CLDN9 |
claudin 9 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:39,172,731...39,181,827
Ensembl chr 3:39,172,853...39,174,354
|
|
G |
COCH |
cochlin |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness |
ClinVar |
PMID:9931344 PMID:10400989 PMID:11332404 PMID:14512963 PMID:16151338 PMID:16481359 PMID:19161137 PMID:24033266 PMID:24662630 PMID:25230692 PMID:25741868 PMID:28492532 PMID:28733840 PMID:30311386 More...
|
|
NCBI chr 7:68,580,124...68,595,142
Ensembl chr 7:68,576,153...68,594,077
|
|
G |
COL11A2 |
collagen type XI alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Deafness |
ClinVar |
PMID:25633957 PMID:28492532 |
|
NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,497...25,234,888
|
|
G |
COL4A5 |
collagen type IV alpha 5 chain |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness |
ClinVar |
PMID:28492532 PMID:30311386 |
|
NCBI chr X:88,958,837...89,183,306
Ensembl chr X:88,958,849...89,183,372
|
|
G |
CRYL1 |
crystallin lambda 1 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness |
ClinVar |
PMID:11807148 PMID:12917317 PMID:14571368 PMID:14681039 PMID:15994881 PMID:19047647 PMID:22098503 PMID:23303923 PMID:24158611 PMID:28823936 PMID:30311386 More...
|
|
NCBI chr11:845,471...925,849
Ensembl chr11:845,475...931,648
|
|
G |
DCDC2 |
doublecortin domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Deafness |
ClinVar |
PMID:16244493 PMID:25601850 |
|
NCBI chr 7:19,044,229...19,219,055
Ensembl chr 7:19,048,088...19,219,075
|
|
G |
EYA4 |
EYA transcriptional coactivator and phosphatase 4 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness |
ClinVar |
PMID:30311386 |
|
NCBI chr 1:30,260,784...30,575,593
Ensembl chr 1:30,261,917...30,533,604
|
|
G |
GJB2 |
gap junction protein beta 2 |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness |
ClinVar |
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 PMID:2706105 PMID:2956987 PMID:6409293 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:9716127 PMID:9819448 PMID:9856479 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10980526 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11354642 PMID:11386851 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12064630 PMID:12081719 PMID:12111646 PMID:12112666 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12372058 PMID:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12668604 PMID:12684873 PMID:12700168 PMID:12746422 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12872268 PMID:12910486 PMID:14070830 PMID:14505035 PMID:14556203 PMID:14643477 PMID:14676473 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15146674 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15504600 PMID:15547422 PMID:15577772 PMID:15592461 PMID:15617546 PMID:15617550 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15757815 PMID:15790391 PMID:15832357 PMID:15841999 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:15996214 PMID:16059934 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16945493 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17331080 PMID:17357124 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17462767 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17567887 PMID:17567889 PMID:17576681 PMID:17581693 PMID:17660464 PMID:17661817 PMID:17666888 PMID:17671735 PMID:17935238 PMID:17993581 PMID:18294064 PMID:18414213 PMID:18451998 PMID:18472371 PMID:18560174 PMID:18570691 PMID:18649181 PMID:18668259 PMID:18684989 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:19051073 PMID:19072567 PMID:19081147 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19274344 PMID:19283857 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19384972 PMID:19465004 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19723508 PMID:19814620 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 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:20542681 PMID:20553101 PMID:20563649 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 PMID:20890442 PMID:20937258 PMID:20956747 PMID:21040787 PMID:21094084 PMID:21094651 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21298213 PMID:21366436 PMID:21388256 PMID:21392827 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21510145 PMID:21728791 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21868108 PMID:21910243 PMID:21916817 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22037723 PMID:22103400 PMID:22106692 PMID:22208444 PMID:22281373 PMID:22384008 PMID:22389666 PMID:22429511 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22567861 PMID:22574200 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:23668481 PMID:23680645 PMID:23684175 PMID:23757202 PMID:23804846 PMID:23826813 PMID:23873582 PMID:23900770 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24078562 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24158896 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24387126 PMID:24507663 PMID:24529908 PMID:24596593 PMID:24611097 PMID:24645897 PMID:24654934 PMID:24706568 PMID:24737404 PMID:24762805 PMID:24793888 PMID:24840842 PMID:24941117 PMID:24945352 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25153233 PMID:25162826 PMID:25188385 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25288386 PMID:25326637 PMID:25388846 PMID:25401782 PMID:25555641 PMID:25560255 PMID:25587757 PMID:25625422 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25741895 PMID:25788563 PMID:25999548 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26186295 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26381000 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26482070 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26763877 PMID:26769242 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26969326 PMID:26990548 PMID:27045574 PMID:27057829 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 PMID:27316387 PMID:27398341 PMID:27466889 PMID:27481527 PMID:27501294 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27792752 PMID:27843504 PMID:27884173 PMID:27884957 PMID:28012523 PMID:28263784 PMID:28271504 PMID:28383030 PMID:28405014 PMID:28428247 PMID:28489599 PMID:28492532 PMID:29062245 PMID:29106882 PMID:29140768 PMID:29293505 PMID:29311818 PMID:29362677 PMID:29501291 PMID:29542069 PMID:29605365 PMID:29625052 PMID:29773520 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30086704 PMID:30094485 PMID:30146550 PMID:30168495 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30466042 PMID:30589569 PMID:30693673 PMID:30733538 PMID:30755392 PMID:30872814 PMID:30896630 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31162818 PMID:31163360 PMID:31195736 PMID:31346875 PMID:31370293 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31581539 PMID:31620696 PMID:31827275 PMID:31992338 PMID:32090102 PMID:32258544 PMID:32455934 PMID:32645618 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33333757 PMID:33524517 PMID:33597575 PMID:33614373 PMID:34062854 PMID:34335733 PMID:34440441 PMID:34515852 PMID:34652575 PMID:35016843 PMID:35301649 PMID:35396755 PMID:35864128 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 More...
|
|
NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
|
|
G |
GJB3 |
gap junction protein beta 3 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Deafness |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,542
|
|
G |
GJB6 |
gap junction protein beta 6 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness |
ClinVar |
PMID:11807148 PMID:12917317 PMID:14571368 PMID:14681039 PMID:15994881 PMID:19047647 PMID:22098503 PMID:23303923 PMID:24158611 PMID:25741868 PMID:28823936 PMID:30311386 More...
|
|
NCBI chr11:793,276...800,109
Ensembl chr11:793,280...800,046
|
|
G |
GSDME |
gasdermin E |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness |
ClinVar |
PMID:7427029 PMID:15173223 PMID:17427029 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 More...
|
|
NCBI chr18:47,524,637...47,583,748
Ensembl chr18:47,526,797...47,583,731
|
|
G |
KARS1 |
lysyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness |
ClinVar |
PMID:21181198 PMID:23768514 PMID:24824130 PMID:25741868 |
|
NCBI chr 6:12,057,475...12,073,749
Ensembl chr 6:12,056,571...12,073,748
|
|
G |
KCNQ4 |
potassium voltage-gated channel subfamily Q member 4 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness |
ClinVar |
PMID:8035838 PMID:10025409 PMID:10369879 PMID:18786918 PMID:20832469 PMID:20966080 PMID:23717403 PMID:23750663 PMID:24033266 PMID:25116015 PMID:25741868 PMID:28492532 PMID:30311386 More...
|
|
NCBI chr 6:170,346,135...170,401,534
Ensembl chr 6:170,346,141...170,401,718
|
|
G |
KLC2 |
kinesin light chain 2 |
|
ISO |
|
MouseDO |
|
|
NCBI chr 2:6,117,236...6,127,048
Ensembl chr 2:6,116,429...6,126,951
|
|
G |
LARS2 |
leucyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness |
ClinVar |
PMID:23541342 PMID:28492532 PMID:30311386 PMID:30737337 |
|
NCBI chr13:28,524,778...28,692,327
Ensembl chr13:28,524,796...28,692,327
|
|
G |
LOXHD1 |
lipoxygenase homology PLAT domains 1 |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic genetic deafness |
ClinVar |
PMID:19732867 PMID:21465660 PMID:22975204 PMID:23226338 PMID:24033266 PMID:25741868 PMID:25792669 PMID:26969326 PMID:28000701 PMID:28492532 PMID:29676012 PMID:30311386 PMID:31152317 PMID:31547530 PMID:32860223 PMID:33753533 PMID:33892339 More...
|
|
NCBI chr 1:96,080,751...96,287,034
Ensembl chr 1:96,080,824...96,276,992
|
|
G |
MET |
MET proto-oncogene, receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive |
ClinVar |
PMID:25941349 |
|
NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512
|
|
G |
MITF |
melanocyte inducing transcription factor |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness |
ClinVar |
PMID:8659547 PMID:20127975 PMID:25741868 PMID:28492532 PMID:28690485 PMID:30311386 PMID:31898538 PMID:34142234 PMID:34997062 More...
|
|
NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,093
|
|
G |
MPDZ |
multiple PDZ domain crumbs cell polarity complex component |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic hearing impairment |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:209,181,441...209,351,797
Ensembl chr 1:209,181,467...209,349,297
|
|
G |
MSX1 |
msh homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27356075 |
|
NCBI chr 8:5,628,381...5,632,375
Ensembl chr 8:5,628,380...5,632,607
|
|
G |
MYO15A |
myosin XVA |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness |
ClinVar |
PMID:7704031 PMID:9603736 PMID:17546645 PMID:20642360 PMID:23208854 PMID:24033266 PMID:24123792 PMID:24875298 PMID:25741868 PMID:26969326 PMID:27068579 PMID:27734841 PMID:27870113 PMID:28000701 PMID:28492532 PMID:30311386 PMID:31980526 PMID:33398081 PMID:35346193 More...
|
|
NCBI chr12:60,533,502...60,582,645
|
|
G |
MYO3A |
myosin IIIA |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness |
ClinVar |
PMID:25741868 PMID:29880844 PMID:34788109 |
|
NCBI chr10:49,392,119...49,623,575
|
|
G |
MYO6 |
myosin VI |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness |
ClinVar |
PMID:12687499 PMID:18348273 PMID:23767834 PMID:24033266 PMID:25080041 PMID:25741868 PMID:25999546 PMID:26467025 PMID:28492532 PMID:30311386 PMID:30582396 PMID:33279834 More...
|
|
NCBI chr 1:89,992,860...90,137,767
Ensembl chr 1:89,992,866...90,137,734
|
|
G |
MYO7A |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness |
ClinVar |
PMID:8900236 PMID:10094549 PMID:10930322 PMID:15300860 PMID:15823922 PMID:16199547 PMID:18463160 PMID:22135276 PMID:23770805 PMID:23804846 PMID:24033266 PMID:25333064 PMID:25404053 PMID:25741868 PMID:26445815 PMID:26969326 PMID:27460420 PMID:27573290 PMID:28000701 PMID:28492532 PMID:30303587 PMID:30311386 PMID:32097363 More...
|
|
NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
|
|
G |
OTOF |
otoferlin |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness |
ClinVar |
PMID:10903124 PMID:12114484 PMID:12127154 PMID:12525542 PMID:14635104 PMID:16199547 PMID:16226319 PMID:16371502 PMID:17036997 PMID:18381613 PMID:19250381 PMID:19461658 PMID:20146813 PMID:20224275 PMID:20301429 PMID:21117948 PMID:21557232 PMID:22575033 PMID:22906306 PMID:24001616 PMID:24033266 PMID:24053799 PMID:24746455 PMID:24814232 PMID:25326637 PMID:25525159 PMID:25741868 PMID:25991456 PMID:26445815 PMID:26467025 PMID:26632695 PMID:26818607 PMID:26969326 PMID:27082237 PMID:27177047 PMID:27621663 PMID:27652356 PMID:27729456 PMID:28492532 PMID:28766844 PMID:29048421 PMID:29196752 PMID:29484972 PMID:30303587 PMID:30311386 PMID:30368385 PMID:30482216 PMID:31095577 PMID:31345219 PMID:31589614 PMID:31827501 PMID:31980526 PMID:32747562 PMID:32860223 PMID:32906206 PMID:33111345 PMID:33256196 PMID:33426078 PMID:33724713 PMID:33908410 PMID:34113375 PMID:34416374 PMID:34424407 PMID:34536124 PMID:34652575 More...
|
|
NCBI chr 3:112,478,188...112,581,105
Ensembl chr 3:112,478,027...112,581,104
|
|
G |
OTOG |
otogelin |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness |
ClinVar |
PMID:24033266 |
|
NCBI chr 2:41,497,201...41,590,564
Ensembl chr 2:41,497,200...41,584,948
|
|
G |
PCDH15 |
protocadherin related 15 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Deafness |
ClinVar |
PMID:25741868 PMID:28281779 PMID:28492532 |
|
NCBI chr14:95,530,168...96,388,032
|
|
G |
PPIP5K2 |
diphosphoinositol pentakisphosphate kinase 2 |
|
ISO |
|
MouseDO |
|
|
NCBI chr 2:108,596,733...108,690,859
Ensembl chr 2:108,585,959...108,690,858
|
|
G |
STRC |
stereocilin |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic genetic deafness |
ClinVar |
PMID:22147502 PMID:24033266 PMID:25741868 PMID:26969326 PMID:29425068 PMID:30311386 PMID:34515852 More...
|
|
NCBI chr 1:127,830,759...127,852,392
Ensembl chr 1:127,835,622...127,852,339
|
|
G |
SYNE4 |
spectrin repeat containing nuclear envelope family member 4 |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic genetic deafness |
ClinVar |
PMID:23348741 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28958982 |
|
NCBI chr 6:45,377,914...45,384,869
Ensembl chr 6:45,380,218...45,384,671
|
|
G |
TBC1D24 |
TBC1 domain family member 24 |
|
ISO |
DNA:mutations:cds:c.457G>A(p.E53K),c.641G>A(p.R214H),c.1316delT(p.V439Vfs32)(human) |
RGD |
PMID:26371875 |
RGD:11098120 |
NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277
|
|
G |
TECTA |
tectorin alpha |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness |
ClinVar |
PMID:11087000 PMID:12746400 PMID:16718611 PMID:17431902 PMID:21520338 PMID:24033266 PMID:24130743 PMID:25741868 PMID:26467025 PMID:26969326 PMID:28492532 PMID:28946916 PMID:30311386 PMID:30935366 PMID:31163360 PMID:31554319 PMID:33297549 PMID:34795337 More...
|
|
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
|
|
G |
TGFA |
transforming growth factor alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27356075 |
|
NCBI chr 3:71,948,232...72,054,257
Ensembl chr 3:71,948,137...72,050,474
|
|
G |
TGFB3 |
transforming growth factor beta 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27356075 |
|
NCBI chr 7:99,133,873...99,162,239
Ensembl chr 7:99,133,879...99,162,232
|
|
G |
TMC1 |
transmembrane channel like 1 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar Annotator: match by term: Non-syndromic genetic deafness |
ClinVar |
PMID:18616530 PMID:19187973 PMID:21917145 PMID:24033266 PMID:24416283 PMID:25741868 PMID:26467025 PMID:26969326 PMID:28492532 PMID:29654653 PMID:30303587 PMID:34416374 PMID:34523024 More...
|
|
NCBI chr 1:225,714,601...226,111,045
Ensembl chr 1:225,929,109...226,109,469
|
|
G |
TMPRSS3 |
transmembrane serine protease 3 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness |
ClinVar |
PMID:11907649 PMID:12920079 PMID:21786053 PMID:24033266 PMID:24526180 PMID:25741868 PMID:26467025 PMID:28246597 PMID:28263784 PMID:28492532 PMID:28566687 PMID:28695016 PMID:29196752 PMID:30242206 PMID:30311386 PMID:31053783 PMID:31412945 PMID:34599368 More...
|
|
NCBI chr13:205,707,501...205,733,037
Ensembl chr13:205,709,663...205,732,824
|
|
G |
TRIOBP |
TRIO and F-actin binding protein |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness |
ClinVar |
PMID:24033266 |
|
NCBI chr 5:10,066,080...10,132,668
Ensembl chr 5:10,066,086...10,126,491
|
|
G |
USH2A |
usherin |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness |
ClinVar |
PMID:2525289 PMID:10729113 PMID:10909849 PMID:12525556 PMID:15823922 PMID:16199547 PMID:17085681 PMID:17405132 PMID:18641288 PMID:19683999 PMID:19737284 PMID:20497194 PMID:20507924 PMID:21487335 PMID:21569298 PMID:21738395 PMID:21909055 PMID:22004887 PMID:22135276 PMID:24033266 PMID:24875298 PMID:24944099 PMID:25252889 PMID:25558175 PMID:25575603 PMID:25649381 PMID:25741868 PMID:27460420 PMID:27596865 PMID:28157192 PMID:28492532 PMID:28559085 PMID:28653555 PMID:28894305 PMID:29986705 PMID:30311386 PMID:31231422 PMID:32036094 PMID:32531858 PMID:32747562 PMID:34008892 PMID:36909829 More...
|
|
NCBI chr10:5,825,591...6,662,733
|
|
G |
WFS1 |
wolframin ER transmembrane glycoprotein |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness |
ClinVar |
PMID:16648378 PMID:17492394 PMID:18544103 PMID:20301750 PMID:21917145 PMID:24033266 PMID:25741868 PMID:26346818 PMID:28492532 PMID:29529044 PMID:30311386 PMID:32567228 More...
|
|
NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273
|
|
|
G |
METTL13 |
methyltransferase 13, eEF1A N-terminus and K55 |
|
ISO |
ClinVar Annotator: match by term: DFNM1 |
OMIM ClinVar |
PMID:29408807 |
|
NCBI chr 9:114,202,494...114,218,371
Ensembl chr 9:114,202,484...114,218,368
|
|
|
G |
CDH23 |
cadherin related 23 |
|
ISO |
ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment |
ClinVar |
PMID:18429043 PMID:21228398 PMID:21569298 PMID:22135276 PMID:22995991 PMID:24033266 PMID:25474345 PMID:25741868 PMID:28492532 PMID:30029624 PMID:30718709 More...
|
|
NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834
|
|
G |
COCH |
cochlin |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant |
ClinVar |
|
|
NCBI chr 7:68,580,124...68,595,142
Ensembl chr 7:68,576,153...68,594,077
|
|
G |
COL11A2 |
collagen type XI alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant |
ClinVar |
PMID:24033266 PMID:28492532 |
|
NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,497...25,234,888
|
|
G |
EYA4 |
EYA transcriptional coactivator and phosphatase 4 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant |
ClinVar |
|
|
NCBI chr 1:30,260,784...30,575,593
Ensembl chr 1:30,261,917...30,533,604
|
|
G |
GJA1 |
gap junction protein alpha 1 |
|
ISO |
DNA:mutations:cds:c.30C>T,c.71T>G(human) |
RGD |
PMID:11741837 |
RGD:1578475 |
NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156
|
|
G |
GJB2 |
gap junction protein beta 2 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant | ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss |
ClinVar |
PMID:10376574 PMID:11102979 PMID:11216656 PMID:11313763 PMID:11493200 PMID:11584050 PMID:12189487 PMID:12560944 PMID:12865758 PMID:12925341 PMID:14681040 PMID:14694360 PMID:14722929 PMID:15070423 PMID:15150777 PMID:15365987 PMID:15617550 PMID:15666300 PMID:15967879 PMID:16217030 PMID:16222667 PMID:16380907 PMID:16467727 PMID:16931589 PMID:16950989 PMID:17041943 PMID:17146393 PMID:17666888 PMID:17935238 PMID:18414213 PMID:18758381 PMID:19371219 PMID:19384972 PMID:19715472 PMID:19929407 PMID:20086306 PMID:20234132 PMID:20301449 PMID:20381175 PMID:20553101 PMID:20863150 PMID:21094084 PMID:21287563 PMID:21465647 PMID:21912263 PMID:22567369 PMID:22613756 PMID:22695344 PMID:23266159 PMID:24033266 PMID:24256046 PMID:24551843 PMID:24706568 PMID:24941117 PMID:25162826 PMID:25388846 PMID:25401782 PMID:25628337 PMID:25741868 PMID:26346709 PMID:26467025 PMID:26749107 PMID:26763877 PMID:27045574 PMID:27247933 PMID:27501294 PMID:27534436 PMID:28483220 PMID:28492532 PMID:29196752 PMID:29501291 PMID:30311386 PMID:30896630 PMID:31160754 PMID:34354426 More...
|
|
NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
|
|
G |
GJB3 |
gap junction protein beta 3 |
no_association |
ISO |
DNA:missense mutation, SNPs:exon:p.R32W (94C>T), C357C>T, 798C>T (human) ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant |
RGD ClinVar |
PMID:15276679 |
RGD:12050154 |
NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,542
|
|
G |
GJB6 |
gap junction protein beta 6 |
no_association |
ISO |
DNA:del:cds:del(GJB6-D13S1830) DNA:mutations:multiple: DNA:del::GJB6-D13S1854(human) |
RGD |
PMID:20022641 PMID:21227513 PMID:22186156 PMID:23554706 PMID:23668481 |
RGD:7364803 RGD:7364812 RGD:7364817 RGD:7364891 RGD:7364892 |
NCBI chr11:793,276...800,109
Ensembl chr11:793,280...800,046
|
|
G |
MYH14 |
myosin heavy chain 14 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 6:55,097,851...55,200,754
Ensembl chr 6:55,113,521...55,200,750
|
|
G |
MYH9 |
myosin heavy chain 9 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 5:11,365,603...11,456,475
Ensembl chr 5:11,360,660...11,456,472
|
|
G |
MYO1A |
myosin IA |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant |
ClinVar |
PMID:24033266 PMID:25741868 |
|
NCBI chr 5:22,338,024...22,363,528
Ensembl chr 5:22,338,029...22,363,568
|
|
G |
MYO3A |
myosin IIIA |
|
ISO |
ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss |
ClinVar |
PMID:25741868 PMID:29880844 PMID:34788109 |
|
NCBI chr10:49,392,119...49,623,575
|
|
G |
MYO6 |
myosin VI |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:89,992,860...90,137,767
Ensembl chr 1:89,992,866...90,137,734
|
|
G |
MYO7A |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant | ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss |
ClinVar |
PMID:24033266 PMID:28492532 |
|
NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
|
|
G |
PCDH15 |
protocadherin related 15 |
|
ISO |
ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment |
ClinVar |
PMID:23804846 PMID:25741868 PMID:26226137 PMID:28492532 PMID:30029624 |
|
NCBI chr14:95,530,168...96,388,032
|
|
G |
PNPT1 |
polyribonucleotide nucleotidyltransferase 1 |
|
ISO |
DNA:missense mutation:cds:c.1424A>G(p.E475G)(human) |
RGD |
PMID:23084290 |
RGD:11554169 |
NCBI chr 3:85,595,356...85,639,665
Ensembl chr 3:85,595,392...85,639,690
|
|
G |
POU4F3 |
POU class 4 homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:147,693,013...147,694,345
Ensembl chr 2:147,692,751...147,695,346
|
|
G |
SIX1 |
SIX homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant |
ClinVar |
|
|
NCBI chr 1:189,620,430...189,624,652
Ensembl chr 1:189,619,855...189,624,651
|
|
G |
SLC17A8 |
solute carrier family 17 member 8 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant |
ClinVar |
|
|
NCBI chr 5:83,741,641...83,809,472
Ensembl chr 5:83,741,715...83,800,808
|
|
G |
SLC26A5 |
solute carrier family 26 member 5 |
|
ISO |
DNA:snp:intron:IVS2-2A>G (human) |
RGD |
PMID:23554706 |
RGD:7364803 |
NCBI chr 9:103,382,558...103,420,054
Ensembl chr 9:103,378,776...103,453,730
|
|
G |
TECTA |
tectorin alpha |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant |
ClinVar |
PMID:24033266 PMID:25741868 |
|
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
|
|
G |
TJP2 |
tight junction protein 2 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 |
|
NCBI chr 1:222,474,518...222,612,989
Ensembl chr 1:222,474,639...222,612,983
|
|
G |
TMC1 |
transmembrane channel like 1 |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant |
ClinVar |
PMID:9536098 PMID:17576681 PMID:21252500 PMID:23208854 PMID:24033266 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 1:225,714,601...226,111,045
Ensembl chr 1:225,929,109...226,109,469
|
|
G |
TMTC2 |
transmembrane O-mannosyltransferase targeting cadherins 2 |
susceptibility |
ISO |
DNA:SNP:exon:rs35725509(human) |
RGD |
PMID:27311106 |
RGD:11252147 |
NCBI chr 5:98,695,404...99,085,243
Ensembl chr 5:98,697,035...99,229,550
|
|
G |
USH1G |
USH1 protein network component sans |
|
ISO |
ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment |
ClinVar |
PMID:28492532 PMID:30029624 |
|
NCBI chr12:6,333,640...6,341,083
Ensembl chr12:6,334,310...6,340,361
|
|
G |
WFS1 |
wolframin ER transmembrane glycoprotein |
|
ISO |
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant |
ClinVar |
PMID:12955714 PMID:17603484 PMID:18060660 PMID:20301750 PMID:20738327 PMID:21446023 PMID:21602428 PMID:24033266 PMID:28492532 PMID:33879153 More...
|
|
NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273
|
|
|
G |
MITF |
melanocyte inducing transcription factor |
|
ISO |
OMIM:103470 |
MouseDO |
|
|
NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,093
|
|
G |
PAX3 |
paired box 3 |
|
ISO |
ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness |
ClinVar |
PMID:25741868 |
|
NCBI chr15:124,093,803...124,193,041
Ensembl chr15:124,094,295...124,193,011
|
|
G |
TYR |
tyrosinase |
|
ISO |
ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness |
ClinVar |
PMID:1429711 PMID:1642278 PMID:1903591 PMID:5516239 PMID:7704033 PMID:7955413 PMID:9242509 PMID:11284711 PMID:13680365 PMID:15146472 PMID:18463683 PMID:18821858 PMID:19060277 PMID:19208379 PMID:19320745 PMID:19865097 PMID:20861488 PMID:21906913 PMID:22734612 PMID:24033266 PMID:24123366 PMID:25216246 PMID:25333069 PMID:25741868 PMID:26167114 PMID:26818737 PMID:27734839 PMID:27775880 PMID:27887888 PMID:28266639 PMID:28378818 PMID:28492532 PMID:28667292 PMID:28976636 PMID:30311386 PMID:31077556 PMID:31719542 PMID:32411182 More...
|
|
NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290
|
|
|
G |
MIA3 |
MIA SH3 domain ER export factor 3 |
|
ISO |
|
OMIM |
|
|
NCBI chr10:11,362,489...11,428,844
Ensembl chr10:11,377,846...11,429,015
|
|
|
G |
UNC45A |
unc-45 myosin chaperone A |
|
ISO |
ClinVar Annotator: match by term: Osteootohepatoenteric syndrome |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29429573 PMID:31231135 PMID:35575086 |
|
NCBI chr 7:53,530,914...53,545,960
Ensembl chr 7:53,522,474...53,545,960
|
|
|
G |
COL11A2 |
collagen type XI alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Insley-Astley syndrome | ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive |
OMIM ClinVar |
PMID:7859284 PMID:9188673 PMID:9536098 PMID:10677296 PMID:15558753 PMID:15922184 PMID:16637051 PMID:17576681 PMID:21204229 PMID:22938506 PMID:23967202 PMID:24033266 PMID:25240749 PMID:25633957 PMID:25741868 PMID:26467025 PMID:26691295 PMID:27068579 PMID:28492532 PMID:28692176 PMID:30311386 PMID:32747562 More...
|
|
NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,497...25,234,888
|
|
G |
COL2A1 |
collagen type II alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive |
ClinVar |
PMID:25326635 PMID:25741868 |
|
NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,137...78,380,718
|
|
|
G |
DSG1 |
desmoglein 1 |
|
ISO |
ClinVar Annotator: match by term: Hereditary palmoplantar keratoderma |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:115,237,836...115,272,944
Ensembl chr 6:115,237,677...115,276,645
|
|
G |
GJB2 |
gap junction protein beta 2 |
|
ISO |
ClinVar Annotator: match by term: Keratoderma palmoplantar, with deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome |
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:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10980526 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 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:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12668604 PMID:12673800 PMID:12684873 PMID:12700168 PMID:12746422 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14643477 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15617546 PMID:15617550 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 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:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16945493 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17146396 PMID:17253936 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:17576681 PMID:17581693 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18196482 PMID:18294064 PMID:18324688 PMID:18414213 PMID:18451998 PMID:18560174 PMID:18570691 PMID:18668259 PMID:18684989 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:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19465004 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19719946 PMID:19723508 PMID:19775242 PMID:19814620 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20096356 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20441744 PMID:20497192 PMID:20553101 PMID:20563649 PMID:20593197 PMID:20607074 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 PMID:20890442 PMID:20956747 PMID:20981092 PMID:21040787 PMID:21094084 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21298213 PMID:21298644 PMID:21366436 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21510145 PMID:21738759 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21836520 PMID:21844220 PMID:21910243 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22037723 PMID:22106692 PMID:22281373 PMID:22384008 PMID:22429511 PMID:22450542 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22574200 PMID:22592158 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23039283 PMID:23073770 PMID:23141775 PMID:23328711 PMID:23451214 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23695287 PMID:23757202 PMID:23804846 PMID:23826813 PMID:23873582 PMID:23900770 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 PMID:24387126 PMID:24507663 PMID:24529908 PMID:24551843 PMID:24611097 PMID:24645897 PMID:24654934 PMID:24737404 PMID:24762805 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25153233 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:25741895 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26482070 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 PMID:27316387 PMID:27398341 PMID:27481527 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884957 PMID:28008688 PMID:28012523 PMID:28222800 PMID:28271504 PMID:28383030 PMID:28428247 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28651654 PMID:28704896 PMID:28900111 PMID:29062245 PMID:29106882 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29625052 PMID:29773520 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30086704 PMID:30094485 PMID:30146550 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30589569 PMID:30693673 PMID:30828346 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31195736 PMID:31346875 PMID:31370293 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31827275 PMID:31980526 PMID:31992338 PMID:32090102 PMID:32258544 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33187236 PMID:33333757 PMID:33524517 PMID:33597575 PMID:33614373 PMID:33928925 PMID:34062854 PMID:34335733 PMID:34440441 PMID:34515852 PMID:34652575 PMID:35016843 PMID:35396755 PMID:35864128 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 More...
|
|
NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
|
|
G |
MT-CO1 |
mitochondrially encoded cytochrome c oxidase I |
|
ISO |
ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome |
ClinVar |
PMID:127819 PMID:6213205 PMID:7219534 PMID:7987332 PMID:8019558 PMID:8572257 PMID:9450881 PMID:9742104 PMID:11069477 PMID:11175301 PMID:20301595 PMID:31965079 PMID:32906214 More...
|
|
NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055
|
|
|
G |
SDHD |
succinate dehydrogenase complex subunit D |
|
ISO |
ClinVar Annotator: match by term: Paragangliomas 1 with sensorineural hearing loss | ClinVar Annotator: match by term: Paragangliomas with sensorineural hearing loss |
ClinVar |
PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 PMID:10657297 PMID:11156372 PMID:11343322 PMID:11391796 PMID:11391798 PMID:11526495 PMID:11897812 PMID:11897817 PMID:12000816 PMID:12007193 PMID:12111639 PMID:12114404 PMID:12386824 PMID:12509798 PMID:12696072 PMID:12782822 PMID:12807974 PMID:12811540 PMID:14557476 PMID:14974914 PMID:15032977 PMID:15066320 PMID:15235042 PMID:15328326 PMID:15331017 PMID:15479192 PMID:15623805 PMID:16080474 PMID:16199547 PMID:16317055 PMID:17041923 PMID:17102085 PMID:17308434 PMID:17406045 PMID:17563904 PMID:17576205 PMID:17576681 PMID:17667967 PMID:17804857 PMID:17973943 PMID:18551016 PMID:18678321 PMID:18692411 PMID:19075037 PMID:19258401 PMID:19351833 PMID:19454582 PMID:19550080 PMID:19584903 PMID:19802898 PMID:19825962 PMID:20301715 PMID:20418362 PMID:21348866 PMID:21565294 PMID:21792967 PMID:21937622 PMID:21945342 PMID:21979946 PMID:22170724 PMID:22241717 PMID:22290790 PMID:22456618 PMID:22566194 PMID:22575350 PMID:22584711 PMID:22703879 PMID:22829200 PMID:23083876 PMID:23175444 PMID:23433498 PMID:23512077 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24134185 PMID:24367056 PMID:24436918 PMID:24728327 PMID:24758185 PMID:24886695 PMID:25014000 PMID:25149476 PMID:25275255 PMID:25300370 PMID:25326637 PMID:25376524 PMID:25494863 PMID:25694510 PMID:25695889 PMID:25720320 PMID:25741136 PMID:25741868 PMID:26008905 PMID:26096992 PMID:26269449 PMID:26467025 PMID:27153395 PMID:27279923 PMID:27634942 PMID:28128698 PMID:28164237 PMID:28179334 PMID:28492532 PMID:28873162 PMID:28977582 PMID:29386252 PMID:29545045 PMID:29625052 PMID:29681642 PMID:29777207 PMID:29792313 PMID:29875428 PMID:29925701 PMID:30050099 PMID:30273935 PMID:30375904 PMID:30484866 PMID:30877234 PMID:30951038 PMID:31194233 PMID:31492822 PMID:32035780 PMID:32741965 PMID:33219105 PMID:33748650 PMID:34012134 PMID:34906457 PMID:35626065 PMID:35938916 More...
|
|
NCBI chr 9:39,790,654...39,803,602
Ensembl chr 9:39,790,595...39,803,950
|
|
|
G |
CLDN9 |
claudin 9 |
|
ISO |
ClinVar Annotator: match by term: Pendred syndrome |
ClinVar |
PMID:30311386 PMID:35802133 PMID:36633841 |
|
NCBI chr 3:39,172,731...39,181,827
Ensembl chr 3:39,172,853...39,174,354
|
|
G |
DIAPH1 |
diaphanous related formin 1 |
|
ISO |
ClinVar Annotator: match by term: Pendred syndrome |
ClinVar |
PMID:30311386 |
|
NCBI chr 2:143,158,691...143,271,110
Ensembl chr 2:143,158,585...143,271,147
|
|
G |
FOXI1 |
forkhead box I1 |
|
ISO |
ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome |
ClinVar |
PMID:17503324 PMID:25741868 PMID:28492532 PMID:30311386 |
|
NCBI chr16:53,835,350...53,839,185
Ensembl chr16:53,835,399...53,839,187
|
|
G |
KCNJ10 |
potassium inwardly rectifying channel subfamily J member 10 |
|
ISO |
ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome |
ClinVar |
PMID:19289823 PMID:20651251 PMID:20678478 PMID:20807765 PMID:21088294 PMID:21458570 PMID:21849804 PMID:22612257 PMID:23869231 PMID:23924083 PMID:24193250 PMID:24561201 PMID:25741868 PMID:26467025 PMID:26867573 PMID:27171548 PMID:27677466 PMID:27875746 PMID:28492532 PMID:28747464 PMID:32062759 More...
|
|
NCBI chr 4:90,421,956...90,457,406
Ensembl chr 4:90,422,025...90,457,406
|
|
G |
MYO7A |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Pendred syndrome |
ClinVar |
PMID:24033266 PMID:28492532 PMID:30311386 PMID:30718709 |
|
NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
|
|
G |
OTOF |
otoferlin |
|
ISO |
ClinVar Annotator: match by term: Pendred syndrome |
ClinVar |
PMID:30311386 |
|
NCBI chr 3:112,478,188...112,581,105
Ensembl chr 3:112,478,027...112,581,104
|
|
G |
SLC26A4 |
solute carrier family 26 member 4 |
|
ISO |
ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B | ClinVar Annotator: match by term: Pendred syndrome | ClinVar Annotator: match by term: SLC26A4-related condition |
OMIM ClinVar |
PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 PMID:9070918 PMID:9398842 PMID:9500541 PMID:9536098 PMID:9604973 PMID:9618166 PMID:9618167 PMID:9920104 PMID:10190331 PMID:10571950 PMID:10602116 PMID:10700480 PMID:10718825 PMID:10861298 PMID:10874637 PMID:10878664 PMID:10902795 PMID:11317356 PMID:11375792 PMID:11405873 PMID:11502831 PMID:11700190 PMID:11716048 PMID:11748854 PMID:11919333 PMID:11932316 PMID:12112665 PMID:12354788 PMID:12642503 PMID:12676893 PMID:12788906 PMID:12920581 PMID:12974744 PMID:14508505 PMID:14679580 PMID:14715652 PMID:15099345 PMID:15279074 PMID:15355436 PMID:15531480 PMID:15574297 PMID:15611902 PMID:15679828 PMID:15689455 PMID:15720248 PMID:15747138 PMID:15811013 PMID:15933521 PMID:16053392 PMID:16199547 PMID:16275403 PMID:16283880 PMID:16460646 PMID:16482981 PMID:16570074 PMID:16684826 PMID:16711435 PMID:16773579 PMID:16791000 PMID:16914891 PMID:16924389 PMID:16950989 PMID:16952406 PMID:17125574 PMID:17146393 PMID:17309986 PMID:17322586 PMID:17357124 PMID:17443271 PMID:17503324 PMID:17576681 PMID:17697873 PMID:17718863 PMID:17766716 PMID:17851929 PMID:17876604 PMID:17940114 PMID:18075246 PMID:18167283 PMID:18250610 PMID:18274916 PMID:18283249 PMID:18285825 PMID:18310264 PMID:18322141 PMID:18427006 PMID:18585793 PMID:18641518 PMID:18665027 PMID:18813951 PMID:18988928 PMID:19017801 PMID:19040761 PMID:19169484 PMID:19189692 PMID:19199245 PMID:19204907 PMID:19287372 PMID:19318451 PMID:19426954 PMID:19429184 PMID:19509082 PMID:19565036 PMID:19578036 PMID:19608655 PMID:19615760 PMID:19620588 PMID:19645628 PMID:19648736 PMID:19718752 PMID:19744334 PMID:19786220 PMID:19787632 PMID:19888295 PMID:20128824 PMID:20137612 PMID:20146813 PMID:20301640 PMID:20483489 PMID:20553101 PMID:20583162 PMID:20597900 PMID:20601923 PMID:20621367 PMID:20623167 PMID:20668687 PMID:20826203 PMID:20842945 PMID:20981092 PMID:21045265 PMID:21154317 PMID:21366435 PMID:21416585 PMID:21551164 PMID:21557232 PMID:21704276 PMID:21961810 PMID:22116358 PMID:22116359 PMID:22116360 PMID:22285650 PMID:22289209 PMID:22384008 PMID:22389666 PMID:22412181 PMID:22509691 PMID:22717225 PMID:22796198 PMID:22884721 PMID:22903915 PMID:22975760 PMID:23151025 PMID:23151031 PMID:23185506 PMID:23208854 PMID:23266159 PMID:23273637 PMID:23280318 PMID:23296490 PMID:23336812 PMID:23385134 PMID:23401162 PMID:23504402 PMID:23555729 PMID:23617710 PMID:23638949 PMID:23705809 PMID:23718755 PMID:23755160 PMID:23770805 PMID:23804846 PMID:23838540 PMID:23918157 PMID:23958391 PMID:23965030 PMID:23967202 PMID:23980138 PMID:24007330 PMID:24033266 PMID:24051746 PMID:24105851 PMID:24156272 PMID:24222258 PMID:24224479 PMID:24245694 PMID:24248179 PMID:24338212 PMID:24341454 PMID:24599119 PMID:24612839 PMID:24804242 PMID:24853665 PMID:24860705 PMID:24875928 PMID:24913939 PMID:24949729 PMID:25015771 PMID:25149764 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25290043 PMID:25317404 PMID:25358692 PMID:25372295 PMID:25373420 PMID:25394566 PMID:25468468 PMID:25488846 PMID:25491636 PMID:25525159 PMID:25528277 PMID:25587757 PMID:25724631 PMID:25741868 PMID:25741914 PMID:25741916 PMID:25761933 PMID:25788563 PMID:25830873 PMID:25910213 PMID:25991456 PMID:25999548 PMID:26022370 PMID:26035154 PMID:26100058 PMID:26188157 PMID:26226137 PMID:26252218 PMID:26346818 PMID:26397989 PMID:26445815 PMID:26467025 PMID:26485571 PMID:26549381 PMID:26683941 PMID:26744121 PMID:26752218 PMID:26763877 PMID:26764160 PMID:26886069 PMID:26886089 PMID:26894580 PMID:26900070 PMID:26969326 PMID:27068579 PMID:27090054 PMID:27214836 PMID:27240500 PMID:27246798 PMID:27247933 PMID:27344577 PMID:27373559 PMID:27466889 PMID:27541434 PMID:27573290 PMID:27610647 PMID:27771369 PMID:27792752 PMID:27861301 PMID:27863619 PMID:27884173 PMID:27997596 PMID:28000701 PMID:28215547 PMID:28273078 PMID:28281779 PMID:28341401 PMID:28389359 PMID:28444304 PMID:28492532 PMID:28576516 PMID:28604962 PMID:28717060 PMID:28786104 PMID:28901477 PMID:28941661 PMID:28964290 PMID:28984810 PMID:29048421 PMID:29196752 PMID:29293505 PMID:29320412 PMID:29372807 PMID:29501320 PMID:29546359 PMID:29605365 PMID:29739340 PMID:29907799 PMID:30068397 PMID:30077349 PMID:30086623 PMID:30113565 PMID:30139988 PMID:30154845 PMID:30240412 PMID:30245029 PMID:30268946 PMID:30303587 PMID:30311386 PMID:30484383 PMID:30622556 PMID:30693673 PMID:30760291 PMID:30762455 PMID:30842343 PMID:30896630 PMID:31020658 PMID:31033086 PMID:31035178 PMID:31095577 PMID:31107121 PMID:31124793 PMID:31387071 PMID:31427586 PMID:31541171 PMID:31581539 PMID:31589614 PMID:31599023 PMID:31633822 PMID:31656273 PMID:31700827 PMID:31971949 PMID:32165640 PMID:32417962 PMID:32447495 PMID:32459320 PMID:32645618 PMID:32658404 PMID:32681043 PMID:32747562 PMID:32770655 PMID:33111345 PMID:33152970 PMID:33199029 PMID:33502066 PMID:33528103 PMID:33597575 PMID:33614372 PMID:33801843 PMID:34161886 PMID:34170635 PMID:34171171 PMID:34410491 PMID:34416374 PMID:34426522 PMID:34539567 PMID:34545167 PMID:34599368 PMID:34632506 PMID:34680964 PMID:34752165 PMID:34801268 PMID:35249537 PMID:35276235 PMID:35802133 PMID:35816303 PMID:35982127 PMID:36633841 PMID:36703223 More...
|
|
NCBI chr 9:107,365,121...107,431,065
Ensembl chr 9:107,365,814...107,431,062
|
|
|
G |
MYH14 |
myosin heavy chain 14 |
|
ISO |
ClinVar Annotator: match by term: Peripheral neuropathy, myopathy, hoarseness, and hearing loss |
OMIM ClinVar |
PMID:21480433 PMID:23806086 PMID:24033266 PMID:24088041 PMID:25741868 PMID:26257172 PMID:26346818 PMID:26752647 PMID:27393652 PMID:27911912 PMID:28492532 PMID:30311386 PMID:31231018 PMID:35274842 More...
|
|
NCBI chr 6:55,097,851...55,200,754
Ensembl chr 6:55,113,521...55,200,750
|
|
|
G |
CLPP |
caseinolytic mitochondrial matrix peptidase proteolytic subunit |
|
ISO |
ClinVar Annotator: match by term: Perrault syndrome |
ClinVar |
PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24824130 |
|
NCBI chr 2:72,707,363...72,713,481
Ensembl chr 2:72,707,158...72,713,475
|
|
G |
ERAL1 |
Era like 12S mitochondrial rRNA chaperone 1 |
|
ISO |
ClinVar Annotator: match by term: Perrault syndrome |
ClinVar |
PMID:28449065 |
|
NCBI chr12:45,082,931...45,091,278
Ensembl chr12:45,083,003...45,088,673
|
|
G |
HARS2 |
histidyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Perrault syndrome |
ClinVar |
PMID:517579 PMID:21464306 |
|
NCBI chr 2:142,401,279...142,410,253
Ensembl chr 2:142,401,328...142,409,619
|
|
G |
HSD17B4 |
hydroxysteroid 17-beta dehydrogenase 4 |
|
ISO |
ClinVar Annotator: match by term: Perrault syndrome |
ClinVar |
PMID:4061497 PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 PMID:11810648 PMID:15216544 PMID:16385454 PMID:20673864 PMID:22864515 PMID:23181892 PMID:24033266 PMID:24108619 PMID:25741868 PMID:25967389 PMID:26243799 PMID:26970254 PMID:27790638 PMID:28017249 PMID:28492532 PMID:28708278 PMID:28830375 PMID:31455392 More...
|
|
NCBI chr 2:123,313,445...123,401,386
Ensembl chr 2:123,313,448...123,402,709
|
|
G |
LARS2 |
leucyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Perrault syndrome |
ClinVar |
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 PMID:26970254 PMID:27650058 PMID:28492532 PMID:28832386 PMID:29205794 PMID:30311386 PMID:30737337 PMID:32747562 PMID:32767731 PMID:34997062 More...
|
|
NCBI chr13:28,524,778...28,692,327
Ensembl chr13:28,524,796...28,692,327
|
|
G |
TWNK |
twinkle mtDNA helicase |
|
ISO |
ClinVar Annotator: match by term: Perrault syndrome |
ClinVar |
PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:26970254 PMID:27551684 PMID:27650058 PMID:28178980 PMID:28492532 PMID:29458409 PMID:30799093 PMID:31055809 PMID:31455392 PMID:31852434 PMID:32234020 PMID:32281099 PMID:32619254 PMID:33095980 PMID:35035228 More...
|
|
NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792
|
|
|
G |
CLPP |
caseinolytic mitochondrial matrix peptidase proteolytic subunit |
|
ISO |
ClinVar Annotator: match by term: Perrault syndrome 1 |
ClinVar |
PMID:30311386 |
|
NCBI chr 2:72,707,363...72,713,481
Ensembl chr 2:72,707,158...72,713,475
|
|
G |
FBN1 |
fibrillin 1 |
|
ISO |
ClinVar Annotator: match by term: Perrault syndrome 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
|
|
G |
FSHR |
follicle stimulating hormone receptor |
|
ISO |
ClinVar Annotator: match by term: Gonadal dysgenesis XX type deafness |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:91,607,236...91,775,255
Ensembl chr 3:91,607,305...91,774,683
|
|
G |
HSD17B4 |
hydroxysteroid 17-beta dehydrogenase 4 |
|
ISO |
ClinVar Annotator: match by term: HSD17B4-related condition | ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Perrault syndrome 1 |
OMIM ClinVar |
PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 PMID:10497229 PMID:11810648 PMID:15216544 PMID:16385454 PMID:17576681 PMID:20673864 PMID:22864515 PMID:23181892 PMID:23308274 PMID:23332201 PMID:24033266 PMID:24108619 PMID:24553428 PMID:25741868 PMID:25741913 PMID:25741915 PMID:25741916 PMID:25967389 PMID:26243799 PMID:26467025 PMID:26970254 PMID:27124789 PMID:27528516 PMID:27790638 PMID:28017249 PMID:28492532 PMID:28649525 PMID:28708278 PMID:28830375 PMID:28973083 PMID:30396834 PMID:30561787 PMID:31230720 PMID:31455392 PMID:32747562 PMID:32904102 PMID:33539324 PMID:34645488 PMID:34719423 PMID:34732400 PMID:34906502 More...
|
|
NCBI chr 2:123,313,445...123,401,386
Ensembl chr 2:123,313,448...123,402,709
|
|
G |
PRORP |
protein only RNase P catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Perrault syndrome 1 |
ClinVar |
PMID:34715011 |
|
NCBI chr 7:64,620,514...64,763,272
Ensembl chr 7:64,620,517...64,762,428
|
|
|
G |
HARS2 |
histidyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Perrault syndrome 2 |
OMIM ClinVar |
PMID:517579 PMID:21464306 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31449985 PMID:31486067 PMID:31827252 PMID:34416374 More...
|
|
NCBI chr 2:142,401,279...142,410,253
Ensembl chr 2:142,401,328...142,409,619
|
|
|
G |
CLPP |
caseinolytic mitochondrial matrix peptidase proteolytic subunit |
|
ISO |
ClinVar Annotator: match by term: Perrault syndrome 3 |
OMIM ClinVar |
PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24033266 PMID:24824130 PMID:25741868 PMID:26467025 PMID:27087618 PMID:28492532 More...
|
|
NCBI chr 2:72,707,363...72,713,481
Ensembl chr 2:72,707,158...72,713,475
|
|
|
G |
LARS2 |
leucyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Perrault syndrome 4 |
OMIM ClinVar |
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 PMID:26657938 PMID:26970254 PMID:28000701 PMID:28492532 PMID:28708303 PMID:28832386 PMID:29205794 PMID:30311386 PMID:30737337 PMID:32399598 PMID:32442335 PMID:32747562 More...
|
|
NCBI chr13:28,524,778...28,692,327
Ensembl chr13:28,524,796...28,692,327
|
|
|
G |
TWNK |
twinkle mtDNA helicase |
|
ISO |
ClinVar Annotator: match by term: Perrault syndrome 5 |
OMIM ClinVar |
PMID:25355836 PMID:25741868 PMID:27551684 PMID:27650058 PMID:28178980 PMID:28492532 PMID:29302074 PMID:31055809 PMID:31455392 PMID:31823625 PMID:32234020 PMID:32281099 PMID:32619254 PMID:33095980 PMID:33486010 PMID:35035228 More...
|
|
NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792
|
|
|
G |
ERAL1 |
Era like 12S mitochondrial rRNA chaperone 1 |
|
ISO |
ClinVar Annotator: match by term: Perrault syndrome 6 |
OMIM ClinVar |
PMID:25741868 PMID:28449065 |
|
NCBI chr12:45,082,931...45,091,278
Ensembl chr12:45,083,003...45,088,673
|
|
|
G |
AQP4 |
aquaporin 4 |
severity |
ISO |
|
RGD |
PMID:19070604 |
RGD:8695953 |
NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109
|
|
G |
BDNF |
brain derived neurotrophic factor |
|
ISO |
mRNA:decreased expression:cochlea |
RGD |
PMID:17168119 |
RGD:8655551 |
NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765
|
|
G |
CACNA1D |
calcium voltage-gated channel subunit alpha1 D |
|
ISO |
mRNA, protein:decreased expression:cochlea |
RGD |
PMID:23470431 |
RGD:10045570 |
NCBI chr13:35,568,534...35,911,483
Ensembl chr13:35,436,519...35,909,662
|
|
G |
CAT |
catalase |
|
ISO |
|
RGD |
PMID:11678164 |
RGD:8655636 |
NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
|
|
G |
CDH23 |
cadherin related 23 |
no_association |
ISO |
DNA:SNP:intron:g.72996763C>T (rs7087735) (human) |
RGD |
PMID:12910270 PMID:22581638 |
RGD:737781 RGD:8662287 |
NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834
|
|
G |
EDN1 |
endothelin 1 |
susceptibility |
ISO |
DNA:missense mutation:cds:p.L198N (rs5370) (human) |
RGD |
PMID:19358249 |
RGD:8661662 |
NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
|
|
G |
HSPB1 |
heat shock protein family B (small) member 1 |
|
ISO |
|
RGD |
PMID:24587312 |
RGD:10402574 |
NCBI chr 3:10,038,074...10,039,441
Ensembl chr 3:10,037,949...10,039,704
|
|
G |
IL1R2 |
interleukin 1 receptor type 2 |
|
ISO |
|
RGD |
PMID:22652460 |
RGD:8662870 |
NCBI chr 3:52,367,434...52,406,393
Ensembl chr 3:52,367,437...52,406,334
|
|
G |
POLG |
DNA polymerase gamma, catalytic subunit |
|
ISO |
|
RGD |
PMID:21664445 |
RGD:8694161 |
NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844
|
|
G |
SIRT3 |
sirtuin 3 |
|
ISO |
protein:decreased expression:auditory cortex: |
RGD |
PMID:24505357 |
RGD:8158103 |
NCBI chr 2:38,465...55,074
Ensembl chr 2:38,464...55,101
|
|
G |
SLC26A5 |
solute carrier family 26 member 5 |
|
ISO |
protein:altered expression:cochlear outer hair cell (rat) |
RGD |
PMID:19111601 |
RGD:9585690 |
NCBI chr 9:103,382,558...103,420,054
Ensembl chr 9:103,378,776...103,453,730
|
|
G |
SOD1 |
superoxide dismutase 1 |
severity |
ISO |
mRNA:increased expression:cochlea (mouse) |
RGD |
PMID:10464373 PMID:11678164 |
RGD:8655636 RGD:8655665 |
NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
|
|
G |
SOD2 |
superoxide dismutase 2 |
|
ISO |
protein:decreased expression,decreased activity:auditory cortex: |
RGD |
PMID:24505357 |
RGD:8158103 |
NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
|
|
G |
TBC1D24 |
TBC1 domain family member 24 |
|
ISO |
DNA:mutation:cds:c.533C>T (p.S178L)(human) |
RGD |
PMID:24729539 |
RGD:11537394 |
NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277
|
|
G |
TYR |
tyrosinase |
onset treatment |
ISO |
associated with Albinism; |
RGD |
PMID:19141317 PMID:19843244 |
RGD:8694324 RGD:8694327 |
NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290
|
|
|
G |
C14H10orf105 |
chromosome 14 C10orf105 homolog |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr14:74,630,827...74,639,180
Ensembl chr14:74,629,796...74,638,022
|
|
G |
CDH23 |
cadherin related 23 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome |
ClinVar |
PMID:12075507 PMID:16963483 PMID:18429043 PMID:19683999 PMID:21174530 PMID:21228398 PMID:21569298 PMID:22135276 PMID:22995991 PMID:23794683 PMID:24033266 PMID:24444108 PMID:25474345 PMID:25741868 PMID:26467025 PMID:26969326 PMID:27018795 PMID:28492532 PMID:30029624 PMID:30033219 PMID:30459346 PMID:30718709 PMID:33576794 PMID:34906470 PMID:34948090 PMID:36460718 More...
|
|
NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834
|
|
G |
CRB1 |
crumbs cell polarity complex component 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome |
ClinVar |
PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 PMID:25741868 PMID:26047050 PMID:28129017 PMID:28341475 PMID:28492532 PMID:29391521 PMID:30718709 PMID:33546218 PMID:34906470 More...
|
|
NCBI chr10:20,137,246...20,332,539
Ensembl chr10:20,137,451...20,332,414
|
|
G |
HARS1 |
histidyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome |
ClinVar |
|
|
NCBI chr 2:142,387,563...142,401,232
Ensembl chr 2:142,385,872...142,401,208
|
|
G |
MYO7A |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome |
ClinVar |
PMID:24033266 PMID:28492532 |
|
NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
|
|
G |
PCDH15 |
protocadherin related 15 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr14:95,530,168...96,388,032
|
|
G |
PSAP |
prosaposin |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome |
ClinVar |
PMID:18429043 PMID:23794683 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763
|
|
G |
USH1C |
USH1 protein network component harmonin |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome |
ClinVar |
|
|
NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247
|
|
G |
USH1G |
USH1 protein network component sans |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome |
ClinVar |
|
|
NCBI chr12:6,333,640...6,341,083
Ensembl chr12:6,334,310...6,340,361
|
|
G |
USH2A |
usherin |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:5,825,591...6,662,733
|
|
G |
VSIR |
V-set immunoregulatory receptor |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome |
ClinVar |
|
|
NCBI chr14:74,667,081...74,693,347
Ensembl chr14:74,666,624...74,693,281
|
|
G |
WHRN |
whirlin |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome |
ClinVar |
PMID:21569298 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:255,009,765...255,095,281
Ensembl chr 1:255,009,771...255,095,222
|
|
|
G |
RRM2B |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
|
ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction |
OMIM ClinVar |
PMID:8279480 PMID:17486094 PMID:21378381 PMID:24741716 PMID:25741868 PMID:28492532 PMID:31521625 PMID:32827185 More...
|
|
NCBI chr 4:34,823,869...34,859,777
Ensembl chr 4:34,823,758...34,859,778
|
|
|
G |
CATSPER2 |
cation channel sperm associated 2 |
|
ISO |
ClinVar Annotator: match by term: Deafness-infertility syndrome |
ClinVar |
PMID:19344877 PMID:24033266 PMID:25741868 |
|
NCBI chr 1:127,814,349...127,831,023
Ensembl chr 1:127,814,376...127,829,109
|
|
G |
CKMT1A |
creatine kinase, mitochondrial 1A |
|
ISO |
ClinVar Annotator: match by term: Deafness-infertility syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:127,852,533...127,859,066
|
|
G |
PDIA3 |
protein disulfide isomerase family A member 3 |
|
ISO |
ClinVar Annotator: match by term: Deafness-infertility syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:127,786,174...127,814,096
Ensembl chr 1:127,785,772...127,814,196
|
|
G |
PPIP5K1 |
diphosphoinositol pentakisphosphate kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness-infertility syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:127,865,487...127,915,501
Ensembl chr 1:127,865,562...127,915,451
|
|
G |
STRC |
stereocilin |
|
ISO |
ClinVar Annotator: match by term: Deafness-infertility syndrome |
ClinVar |
PMID:18414213 PMID:21078986 PMID:22147502 PMID:24033266 PMID:25157971 PMID:25741868 PMID:26467025 PMID:29425068 More...
|
|
NCBI chr 1:127,830,759...127,852,392
Ensembl chr 1:127,835,622...127,852,339
|
|
|
G |
MYO6 |
myosin VI |
|
ISO |
ClinVar Annotator: match by term: Sensorineural deafness with hypertrophic cardiomyopathy |
ClinVar |
PMID:15060111 PMID:18212818 PMID:18348273 PMID:24033266 PMID:28492532 |
|
NCBI chr 1:89,992,860...90,137,767
Ensembl chr 1:89,992,866...90,137,734
|
|
|
G |
BSND |
barttin CLCNK type accessory subunit beta |
|
ISO |
ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction |
ClinVar |
PMID:11687798 PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 PMID:30303587 PMID:30311386 More...
|
|
NCBI chr 6:157,424,389...157,432,571
Ensembl chr 6:157,425,878...157,432,580
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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 4:104,353,508...104,384,547
|
|
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
|
|
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
|
|
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
|
|
G |
BRF1 |
BRF1 RNA polymerase III transcription initiation factor subunit |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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...
|
|
NCBI chr 7:68,580,124...68,595,142
Ensembl chr 7:68,576,153...68,594,077
|
|
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
|
|
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 7:25,204,497...25,234,888
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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 7:36,754,754...36,793,527
|
|
G |
GAB1 |
GRB2 associated binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment |
ClinVar |
|
|
NCBI chr 8:84,257,958...84,391,511
Ensembl chr 8:84,257,965...84,391,621
|
|
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 chr16:61,656,590...61,723,448
|
|
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
|
|
G |
GAS2 |
growth arrest specific 2 |
|
ISO |
|
MouseDO |
|
|
NCBI chr 2:36,712,758...36,885,436
Ensembl chr 2:36,711,612...36,885,620
|
|
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
|
|
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
|
|
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
|
|
G |
GIPC3 |
GIPC PDZ domain containing family member 3 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:23510777 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32747562 PMID:32864763 More...
|
|
NCBI chr 2:75,082,048...75,090,145
Ensembl chr 2:75,083,362...75,089,756
|
|
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: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: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: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: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 More...
|
|
NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
|
|
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...
|
|
NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,542
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
KARS1 |
lysyl-tRNA synthetase 1 |
|
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...
|
|
NCBI chr 6:12,057,475...12,073,749
Ensembl chr 6:12,056,571...12,073,748
|
|
G |
KCNJ10 |
potassium inwardly rectifying channel subfamily J member 10 |
|
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
|
|
G |
KCNQ4 |
potassium voltage-gated channel subfamily Q member 4 |
|
ISO |
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment |
ClinVar |
PMID:19461658 PMID:27081546 PMID:30311386 PMID:34652575 |
|
NCBI chr 6:170,346,135...170,401,534
Ensembl chr 6:170,346,141...170,401,718
|
|
G |
KL |
klotho |
|
ISO |
|
RGD |
PMID:21167925 |
RGD:10403058 |
NCBI chr11:9,427,236...9,479,251
Ensembl chr11:9,427,037...9,479,228
|
|
G |
LARS1 |
leucyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 2:147,480,132...147,554,197
Ensembl chr 2:147,477,370...147,554,047
|
|
G |
LMX1A |
LIM homeobox transcription factor 1 alpha |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:29971487 |
|
NCBI chr 4:85,403,287...85,570,738
Ensembl chr 4:85,406,223...85,571,443
|
|
G |
LRP2 |
LDL receptor related protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17632512 |
|
NCBI chr15:75,565,299...75,754,604
Ensembl chr15:75,565,303...75,716,694
|
|
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
|
|
G |
MITF |
melanocyte inducing transcription factor |
|
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...
|
|
NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,093
|
|
G |
MRPS7 |
mitochondrial ribosomal protein S7 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr12:6,052,109...6,055,669
Ensembl chr12:6,052,063...6,055,668
|
|
G |
MT-CYB |
mitochondrially encoded cytochrome b |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:28027978 |
|
NCBI chr MT:15,342...16,481
Ensembl chr MT:15,342...16,481
|
|
G |
MYH14 |
myosin heavy chain 14 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:55,097,851...55,200,754
Ensembl chr 6:55,113,521...55,200,750
|
|
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
|
|
G |
MYO15A |
myosin XVA |
|
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...
|
|
NCBI chr12:60,533,502...60,582,645
|
|
G |
MYO1A |
myosin IA |
|
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
|
|
G |
MYO1F |
myosin IF |
|
ISO |
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment |
ClinVar |
|
|
NCBI chr 2:70,753,143...70,792,938
Ensembl chr 2:70,753,138...70,792,936
|
|
G |
MYO3A |
myosin IIIA |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:12032315 PMID:23990876 PMID:25741868 PMID:28492532 PMID:32006683 PMID:32747562 More...
|
|
NCBI chr10:49,392,119...49,623,575
|
|
G |
MYO6 |
myosin VI |
|
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
|
|
G |
MYO7A |
myosin VIIA |
|
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...
|
|
NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
|
|
G |
NARS2 |
asparaginyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:12,869,347...13,010,897
Ensembl chr 9:12,867,686...13,010,887
|
|
G |
NCOA3 |
nuclear receptor coactivator 3 |
|
ISO |
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment |
ClinVar |
PMID:19461658 PMID:30311386 PMID:33326993 PMID:34652575 |
|
NCBI chr17:49,528,275...49,660,471
Ensembl chr17:49,528,179...49,663,200
|
|
G |
NEFL |
neurofilament light chain |
|
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...
|
|
NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112
|
|
G |
NGF |
nerve growth factor |
|
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
|
|
G |
OTOF |
otoferlin |
|
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...
|
|
NCBI chr 3:112,478,188...112,581,105
Ensembl chr 3:112,478,027...112,581,104
|
|
G |
P2RX2 |
purinergic receptor P2X 2 |
|
ISO |
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment |
ClinVar |
PMID:19461658 PMID:28492532 PMID:30311386 PMID:34652575 |
|
NCBI chr14:22,854,828...22,858,574
Ensembl chr14:22,854,828...22,858,386
|
|
G |
PEX6 |
peroxisomal biogenesis factor 6 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:19877282 PMID:25079577 PMID:25741868 PMID:28492532 PMID:32399598 |
|
NCBI chr 7:38,039,852...38,052,384
Ensembl chr 7:38,039,862...38,052,369
|
|
G |
PHEX |
phosphate regulating endopeptidase X-linked |
|
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
|
|
G |
PHF7 |
PHD finger protein 7 |
|
ISO |
ClinVar Annotator: match by term: Progressive sensorineural hearing impairment |
ClinVar |
PMID:27876815 |
|
NCBI chr13:34,553,818...34,565,647
Ensembl chr13:34,553,816...34,565,646
|
|
G |
PLS1 |
plastin 1 |
|
ISO |
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment |
ClinVar |
PMID:31397523 |
|
NCBI chr13:83,307,692...83,434,133
Ensembl chr13:83,308,007...83,434,128
|
|
G |
PLSCR4 |
phospholipid scramblase 4 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
|
NCBI chr13:86,542,279...86,573,665
Ensembl chr13:86,542,283...86,573,629
|
|
G |
POU4F3 |
POU class 4 homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Congenital sensorineural hearing impairment |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:147,693,013...147,694,345
Ensembl chr 2:147,692,751...147,695,346
|
|
G |
PRICKLE3 |
prickle planar cell polarity protein 3 |
|
ISO |
ClinVar Annotator: match by term: Progressive sensorineural hearing impairment |
ClinVar |
PMID:27876815 |
|
NCBI chr X:43,218,271...43,230,368
Ensembl chr X:43,218,277...43,230,367
|
|
G |
PRKCB |
protein kinase C beta |
|
ISO |
ClinVar Annotator: match by term: Progressive sensorineural hearing impairment |
ClinVar |
PMID:27329761 |
|
NCBI chr 3:21,995,227...22,383,628
Ensembl chr 3:21,995,231...22,383,264
|
|
G |
PTGDS |
prostaglandin D2 synthase |
|
ISO |
protein:decreased expression:cochlea: |
RGD |
PMID:23827367 |
RGD:7349365 |
|
|
G |
PTPRQ |
protein tyrosine phosphatase receptor type Q |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:100,787,025...101,081,145
Ensembl chr 5:100,787,027...101,033,334
|
|
G |
RAB33A |
RAB33A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25590979 PMID:25741868 PMID:28492532 PMID:28967629 PMID:31523922 |
|
NCBI chr X:106,708,402...106,723,803
Ensembl chr X:106,712,398...106,723,404
|
|
G |
RRM2B |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:8279480 PMID:25741868 PMID:28492532 PMID:32827185 |
|
NCBI chr 4:34,823,869...34,859,777
Ensembl chr 4:34,823,758...34,859,778
|
|
G |
SCP2 |
sterol carrier protein 2 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33713422 |
|
NCBI chr 6:159,191,045...159,314,985
|
|
G |
SEMA3D |
semaphorin 3D |
|
ISO |
ClinVar Annotator: match by term: Progressive sensorineural hearing impairment |
ClinVar |
PMID:27876815 |
|
NCBI chr 9:95,280,637...95,486,109
Ensembl chr 9:95,280,593...95,486,090
|
|
G |
SLC12A2 |
solute carrier family 12 member 2 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 PMID:28492532 PMID:34374074 |
|
NCBI chr 2:131,016,430...131,109,307
Ensembl chr 2:131,016,418...131,109,299
|
|
G |
SLC25A4 |
solute carrier family 25 member 4 |
|
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...
|
|
NCBI chr15:46,193,498...46,197,989
Ensembl chr15:46,193,746...46,200,987
|
|
G |
SLC26A4 |
solute carrier family 26 member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15279074 PMID:16053392 PMID:17322586 |
|
NCBI chr 9:107,365,121...107,431,065
Ensembl chr 9:107,365,814...107,431,062
|
|
G |
SLC26A5 |
solute carrier family 26 member 5 |
|
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
|
|
G |
SLC52A2 |
solute carrier family 52 member 2 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:421,457...429,360
Ensembl chr 4:421,474...424,384
|
|
G |
SLC7A14 |
solute carrier family 7 member 14 |
|
ISO |
|
MouseDO |
|
|
NCBI chr13:109,108,461...109,231,712
Ensembl chr13:109,115,006...109,231,433
|
|
G |
SLC7A8 |
solute carrier family 7 member 8 |
|
ISO |
OMIM:304400 |
MouseDO |
|
|
NCBI chr 7:75,854,700...75,921,931
Ensembl chr 7:75,854,882...75,921,931
|
|
G |
SLITRK6 |
SLIT and NTRK like family member 6 |
|
ISO |
OMIM:304400 |
MouseDO |
|
|
NCBI chr11:56,508,713...56,522,270
Ensembl chr11:56,508,767...56,522,197
|
|
G |
SOD2 |
superoxide dismutase 2 |
|
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
|
|
G |
SOX3 |
SRY-box transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: sensorineural hearing loss disorder |
ClinVar |
PMID:23757202 PMID:25741868 PMID:28492532 |
|
NCBI chr X:115,017,704...115,020,601
Ensembl chr X:115,019,232...115,020,578
|
|
G |
SPNS2 |
SPNS lysolipid transporter 2, sphingosine-1-phosphate |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
|
NCBI chr12:50,454,051...50,491,172
Ensembl chr12:50,454,063...50,491,164
|
|
G |
SRC |
SRC proto-oncogene, non-receptor tyrosine kinase |
treatment |
ISO |
|
RGD |
PMID:24472721 |
RGD:11554193 |
NCBI chr17:40,470,970...40,524,862
Ensembl chr17:40,471,009...40,524,860
|
|
G |
STRC |
stereocilin |
|
ISO |
|
RGD |
PMID:11687802 |
RGD:1599186 |
NCBI chr 1:127,830,759...127,852,392
Ensembl chr 1:127,835,622...127,852,339
|
|
G |
STX4 |
syntaxin 4 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:30311386 PMID:36355422 |
|
NCBI chr 3:17,422,266...17,431,377
Ensembl chr 3:17,416,842...17,431,053
|
|
G |
TBX1 |
T-box transcription factor 1 |
|
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
|
|
G |
TCF19 |
transcription factor 19 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:23,558,326...23,562,074
Ensembl chr 7:23,558,384...23,562,069
|
|
G |
TECTA |
tectorin alpha |
|
ISO |
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...
|
|
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
|
|
G |
TENM1 |
teneurin transmembrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
|
NCBI chr X:101,853,340...102,641,299
Ensembl chr X:101,856,267...102,641,186
|
|
G |
TFAM |
transcription factor A, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
|
NCBI chr14:92,261,713...92,279,731
Ensembl chr14:92,259,403...92,279,731
|
|
G |
TMC1 |
transmembrane channel like 1 |
|
ISO |
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment |
ClinVar |
|
|
NCBI chr 1:225,714,601...226,111,045
Ensembl chr 1:225,929,109...226,109,469
|
|
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 |
|
NCBI chr 4:84,961,912...85,011,139
Ensembl chr 4:84,961,819...85,017,820
|
|
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...
|
|
NCBI chr13:29,623,905...29,633,016
Ensembl chr13:29,624,154...29,633,013
|
|
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
|
|
G |
TNC |
tenascin C |
|
ISO |
ClinVar Annotator: match by term: Progressive sensorineural hearing impairment |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:255,533,235...255,630,381
Ensembl chr 1:255,533,238...255,630,376
|
|
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...23,702,416
|
|
G |
TOP1MT |
DNA topoisomerase I mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:1,134,179...1,188,149
Ensembl chr 4:1,148,890...1,188,130
|
|
G |
TOP3A |
DNA topoisomerase III alpha |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
|
NCBI chr12:60,443,592...60,468,968
Ensembl chr12:60,443,677...60,468,964
|
|
G |
USH1C |
USH1 protein network component harmonin |
|
ISO |
|
RGD |
PMID:20211154 |
RGD:8695932 |
NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247
|
|
G |
USH2A |
usherin |
|
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:28944237 PMID:29293505 PMID:30718709 PMID:31817543 PMID:34906470 More...
|
|
NCBI chr10:5,825,591...6,662,733
|
|
G |
USP31 |
ubiquitin specific peptidase 31 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:23,035,543...23,122,134
Ensembl chr 3:23,035,426...23,116,007
|
|
G |
WFS1 |
wolframin ER transmembrane glycoprotein |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss |
ClinVar |
PMID:12107816 PMID:22238590 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273
|
|
G |
WHRN |
whirlin |
|
ISO |
|
RGD |
PMID:12833159 |
RGD:1580603 |
NCBI chr 1:255,009,765...255,095,281
Ensembl chr 1:255,009,771...255,095,222
|
|
G |
ZSCAN10 |
zinc finger and SCAN domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural hearing loss disorder |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:39,113,307...39,119,033
Ensembl chr 3:39,113,402...39,118,779
|
|
|
G |
EXOSC2 |
exosome component 2 |
|
ISO |
ClinVar Annotator: match by term: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | ClinVar Annotator: match by term: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies |
OMIM ClinVar |
PMID:14647208 PMID:15060126 PMID:24447024 PMID:25741868 PMID:25741909 PMID:26843489 PMID:28492532 PMID:31628467 PMID:34162742 More...
|
|
NCBI chr 1:270,748,534...270,757,717
Ensembl chr 1:270,748,537...270,758,111
|
|
|
G |
FITM2 |
fat storage inducing transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Siddiqi syndrome |
OMIM ClinVar |
PMID:25741868 PMID:28067622 PMID:30214770 PMID:30288795 |
|
NCBI chr17:46,742,662...46,745,898
Ensembl chr17:46,739,973...46,745,982
|
|
|
G |
CACNA1D |
calcium voltage-gated channel subunit alpha1 D |
|
ISO |
ClinVar Annotator: match by term: Sinoatrial node dysfunction and deafness |
OMIM ClinVar |
PMID:21131953 PMID:24033266 PMID:25741868 PMID:25741905 PMID:26467025 PMID:28492532 PMID:30498240 PMID:32747562 More...
|
|
NCBI chr13:35,568,534...35,911,483
Ensembl chr13:35,436,519...35,909,662
|
|
|
G |
DLX5 |
distal-less homeobox 5 |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss |
OMIM ClinVar |
PMID:22121204 |
|
NCBI chr 9:76,639,915...76,643,689
Ensembl chr 9:76,639,561...76,643,884
|
|
|
G |
NMNAT1 |
nicotinamide nucleotide adenylyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: SHILCA SYNDROME |
OMIM ClinVar |
PMID:22842227 PMID:22842230 PMID:22842231 PMID:25741868 PMID:26018082 PMID:28492532 PMID:32150116 PMID:32533184 More...
|
|
NCBI chr 6:70,271,296...70,307,403
Ensembl chr 6:70,272,014...70,310,707
|
|
|
G |
GPX3 |
glutathione peroxidase 3 |
|
ISO |
DNA:SNP: :rs3805435 (human) |
RGD |
PMID:28738977 |
RGD:401827121 |
NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026
|
|
G |
HSPA1L |
heat shock protein family A (Hsp70) member 1 like |
|
ISO |
DNA:SNP, haplotype: :rs2075800 (human) |
RGD |
PMID:22922572 |
RGD:8662465 |
NCBI chr 7:23,909,960...23,938,678
Ensembl chr 7:23,909,960...23,914,629
|
|
G |
IGF1 |
insulin like growth factor 1 |
treatment |
ISO |
|
RGD |
PMID:21108784 |
RGD:8548824 |
NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
|
|
G |
IL4R |
interleukin 4 receptor |
|
ISO |
DNA:SNP: :p.Q576R (rs 180275) (human) |
RGD |
PMID:16280132 |
RGD:7829784 |
NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544
|
|
G |
IL6 |
interleukin 6 |
susceptibility |
ISO |
DNA:polymorphism:cds:p.C572G(human) protein:increased expression:serum: |
RGD |
PMID:11189185 PMID:22385075 |
RGD:7394753 RGD:8547982 |
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
|
|
G |
ITGA2 |
integrin subunit alpha 2 |
susceptibility |
ISO |
DNA:SNP: :807C>T (human) |
RGD |
PMID:16525573 |
RGD:1582302 |
NCBI chr16:32,336,240...32,440,311
Ensembl chr16:32,336,292...32,437,103
|
|
G |
LTA |
lymphotoxin alpha |
|
ISO |
DNA:polymorphism:intron:252A>G (human) |
RGD |
PMID:19833626 |
RGD:8548795 |
NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299
|
|
G |
MMP1 |
matrix metallopeptidase 1 |
|
ISO |
DNA:insertion, SNP, haplotypes:promoter:-1607_-1606insG (rs1799750), -519A>G (human) |
RGD |
PMID:21154774 |
RGD:8549733 |
NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076
|
|
G |
MTHFR |
methylenetetrahydrofolate reductase |
no_association susceptibility |
ISO |
DNA:SNP: :677C>T(human) DNA:SNP:cds:677C>T(human) CTD Direct Evidence: marker/mechanism DNA:SNPs:cds:677C>T,1298A>C(human) |
RGD CTD |
PMID:15775757 PMID:16275406 PMID:16572609 PMID:20798492 |
RGD:7387236 RGD:7387240 RGD:7387243 |
NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820
|
|
G |
MTR |
5-methyltetrahydrofolate-homocysteine methyltransferase |
susceptibility |
ISO |
DNA:SNP::2756A>G(human) |
RGD |
PMID:16778415 |
RGD:8694081 |
NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,978...54,652,763
|
|
G |
NOS3 |
nitric oxide synthase 3 |
|
ISO |
DNA:snp:cds:p.E298D (rs1799983) (human) |
RGD |
PMID:23560644 |
RGD:7771541 |
NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943
|
|
G |
SERPINE1 |
serpin family E member 1 |
susceptibility |
ISO |
DNA:deletion, haplotype:promoter:g.-676_-674delG (human) |
RGD |
PMID:22672326 |
RGD:8547731 |
NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547
|
|
G |
TNF |
tumor necrosis factor |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:11189185 |
RGD:7394753 |
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
|
|
|
G |
CHSY1 |
chondroitin sulfate synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome |
OMIM ClinVar |
PMID:9823490 PMID:19952732 PMID:21129727 PMID:21129728 PMID:25741868 PMID:26467025 PMID:28492532 More...
|
|
NCBI chr 1:139,730,703...139,804,458
Ensembl chr 1:139,730,721...139,804,657
|
|
|
G |
SLC19A2 |
solute carrier family 19 member 2 |
|
ISO |
ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ClinVar Annotator: match by term: Thiamine-responsive megaloblastic anemia |
OMIM ClinVar |
PMID:9399900 PMID:9856490 PMID:10391221 PMID:10391222 PMID:10391223 PMID:10874303 PMID:10978358 PMID:12065289 PMID:12435857 PMID:14994241 PMID:16199547 PMID:17132746 PMID:17331069 PMID:17463047 PMID:18414213 PMID:19643445 PMID:23638917 PMID:24355766 PMID:25741868 PMID:25741916 PMID:26467025 PMID:28004468 PMID:28492532 PMID:29450569 PMID:33409956 PMID:33649974 PMID:33816400 More...
|
|
NCBI chr 4:81,510,221...81,535,099
Ensembl chr 4:81,510,098...81,536,464
|
|
|
G |
MITF |
melanocyte inducing transcription factor |
susceptibility |
ISO |
ClinVar Annotator: match by term: Tietz syndrome |
OMIM ClinVar |
PMID:2440678 PMID:8589691 PMID:8659547 PMID:9279758 PMID:9536098 PMID:10587587 PMID:10851256 PMID:13985019 PMID:16199547 PMID:17318840 PMID:17576681 PMID:20127975 PMID:20478267 PMID:21373256 PMID:21438779 PMID:22012259 PMID:22080950 PMID:22158021 PMID:22258527 PMID:22320238 PMID:23167872 PMID:23512835 PMID:23774529 PMID:23787126 PMID:23802662 PMID:24033266 PMID:24194866 PMID:24290354 PMID:24352080 PMID:24406078 PMID:24638154 PMID:24660985 PMID:24767713 PMID:25407435 PMID:25741868 PMID:25803691 PMID:25943250 PMID:25975176 PMID:26103950 PMID:26467025 PMID:26650189 PMID:26775776 PMID:26800492 PMID:26850479 PMID:26999813 PMID:27153395 PMID:27349893 PMID:27473757 PMID:27680874 PMID:27759048 PMID:27889061 PMID:28125078 PMID:28152038 PMID:28376192 PMID:28492532 PMID:28690485 PMID:28825054 PMID:29115496 PMID:29407415 PMID:29484430 PMID:29506128 PMID:29531335 PMID:29625052 PMID:29706638 PMID:30117279 PMID:30311386 PMID:30394532 PMID:30414346 PMID:30549420 PMID:30936914 PMID:31213145 PMID:31427586 PMID:31465090 PMID:31541171 PMID:31898538 PMID:32013026 PMID:32054529 PMID:32685391 PMID:32728090 PMID:33051548 PMID:33111345 PMID:33229591 PMID:33240314 PMID:34142234 PMID:34289891 PMID:34599368 PMID:34662886 PMID:34997062 PMID:35802133 PMID:36451132 PMID:36633841 More...
|
|
NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,093
|
|
|
G |
ABAT |
4-aminobutyrate aminotransferase |
treatment |
ISO |
|
RGD |
PMID:17221143 |
RGD:9588534 |
NCBI chr 3:33,913,068...33,960,804
Ensembl chr 3:33,908,970...34,015,474
|
|
G |
ARC |
activity regulated cytoskeleton associated protein |
|
ISO |
mRNA:decreased expression:auditory cortex: |
RGD |
PMID:18524887 |
RGD:8655535 |
NCBI chr 4:1,517,986...1,521,403
Ensembl chr 4:1,518,180...1,519,370
|
|
G |
BDNF |
brain derived neurotrophic factor |
severity |
ISO |
mRNA:increased expression:cochlea: |
RGD |
PMID:18524887 PMID:22281446 |
RGD:8655535 RGD:8655556 |
NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765
|
|
G |
GRIN2A |
glutamate ionotropic receptor NMDA type subunit 2A |
|
ISO |
mRNA, protein:increased expression:Cochlear Nucleus |
RGD |
PMID:24092407 |
RGD:401940125 |
NCBI chr 3:32,749,329...33,149,350
Ensembl chr 3:32,750,700...33,143,499
|
|
G |
IL4R |
interleukin 4 receptor |
|
ISO |
associated with Hearing Loss, Sudden;DNA:SNP: :p.Q576R (rs 180275) (human) |
RGD |
PMID:16280132 |
RGD:7829784 |
NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544
|
|
G |
TNF |
tumor necrosis factor |
|
ISO |
mRNA, protein:increased expression:Cochlear Nucleus |
RGD |
PMID:24092407 |
RGD:401940125 |
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
|
|
|
G |
DACT1 |
dishevelled binding antagonist of beta catenin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 1:187,719,391...187,729,568
Ensembl chr 1:187,719,290...187,729,422
|
|
G |
SALL1 |
spalt like transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Deafness, sensorineural, with imperforate anus and hypoplastic thumbs | ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome |
OMIM ClinVar |
PMID:8133838 PMID:9425907 PMID:9536098 PMID:9973281 PMID:10533063 PMID:10819639 PMID:10928856 PMID:11102974 PMID:11478532 PMID:11484202 PMID:12915476 PMID:14627694 PMID:14755477 PMID:16088922 PMID:16429401 PMID:16971658 PMID:17221874 PMID:17431915 PMID:17576681 PMID:18000979 PMID:19005989 PMID:19429598 PMID:20301618 PMID:22308078 PMID:23069192 PMID:23894113 PMID:24429398 PMID:25741868 PMID:25741886 PMID:26380986 PMID:26467025 PMID:26489027 PMID:27073431 PMID:27657687 PMID:28492532 PMID:29395072 PMID:29758562 PMID:30143558 PMID:30311386 PMID:30655312 More...
|
|
NCBI chr 6:33,731,666...33,748,698
Ensembl chr 6:33,732,025...33,748,704
|
|
|
G |
DACT1 |
dishevelled binding antagonist of beta catenin 1 |
|
ISO |
ClinVar Annotator: match by term: Townes-Brocks syndrome 2 |
OMIM ClinVar |
PMID:25741868 PMID:28054444 PMID:28492532 PMID:36066768 |
|
NCBI chr 1:187,719,391...187,729,568
Ensembl chr 1:187,719,290...187,729,422
|
|
|
G |
SALL1 |
spalt like transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome |
ClinVar |
PMID:9973281 PMID:10928856 PMID:14755477 PMID:16088922 PMID:23069192 PMID:28492532 More...
|
|
NCBI chr 6:33,731,666...33,748,698
Ensembl chr 6:33,732,025...33,748,704
|
|
|
G |
PHEX |
phosphate regulating endopeptidase X-linked |
|
ISO |
DNA:mutation:cds: |
RGD |
PMID:18289812 |
RGD:11556245 |
NCBI chr X:18,199,396...18,420,985
Ensembl chr X:18,203,174...18,418,004
|
|
|
G |
COL4A5 |
collagen type IV alpha 5 chain |
|
ISO |
ClinVar Annotator: match by term: Unilateral deafness |
ClinVar |
PMID:25741868 |
|
NCBI chr X:88,958,837...89,183,306
Ensembl chr X:88,958,849...89,183,372
|
|
G |
NEFH |
neurofilament heavy chain |
disease_progression |
ISO |
|
RGD |
PMID:27457532 |
RGD:27372873 |
NCBI chr14:46,559,698...46,568,686
Ensembl chr14:46,559,860...46,568,088
|
|
G |
SIX1 |
SIX homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Unilateral deafness |
ClinVar |
|
|
NCBI chr 1:189,620,430...189,624,652
Ensembl chr 1:189,619,855...189,624,651
|
|
|
G |
ADGRV1 |
adhesion G protein-coupled receptor V1 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:14740321 PMID:15671307 PMID:16199547 PMID:19357117 PMID:22135276 PMID:22147658 PMID:24033266 PMID:24154662 PMID:24498627 PMID:25133751 PMID:25404053 PMID:25741868 PMID:26164827 PMID:26226137 PMID:26338283 PMID:26467025 PMID:26667666 PMID:26969326 PMID:27068579 PMID:27575413 PMID:28041643 PMID:28492532 PMID:29099798 PMID:30029497 PMID:30311386 PMID:30459346 PMID:30718709 PMID:30976395 PMID:31047384 PMID:31456290 PMID:31736247 PMID:31980526 PMID:32037395 PMID:32420686 PMID:32467589 PMID:32581362 PMID:33089500 PMID:33297549 PMID:35813073 PMID:36909829 More...
|
|
NCBI chr 2:97,703,648...98,277,847
Ensembl chr 2:97,735,053...98,275,748
|
|
G |
ARSG |
arylsulfatase G |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:29300381 |
|
NCBI chr12:11,751,930...11,882,844
Ensembl chr12:11,751,937...11,843,055
|
|
G |
ATP6V1B1 |
ATPase H+ transporting V1 subunit B1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:30311386 |
|
NCBI chr 3:71,560,102...71,591,885
Ensembl chr 3:71,561,236...71,591,845
|
|
G |
BBS1 |
Bardet-Biedl syndrome 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 PMID:17980398 PMID:18032602 PMID:18669544 PMID:18766993 PMID:20301537 PMID:20498079 PMID:21052717 PMID:21642631 PMID:22581970 PMID:22940089 PMID:22998390 PMID:23143442 PMID:23565731 PMID:23847139 PMID:23943788 PMID:24033266 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26872967 PMID:27032803 PMID:27659767 PMID:28041643 PMID:28492532 PMID:29264490 PMID:30614526 PMID:30718709 PMID:33532864 PMID:36909829 More...
|
|
NCBI chr 2:5,886,989...5,906,468
Ensembl chr 2:5,886,990...5,906,388
|
|
G |
BPNT1 |
3'(2'), 5'-bisphosphate nucleotidase 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chr10:9,659,876...9,684,115
Ensembl chr10:9,659,487...9,683,912
|
|
G |
C10H1orf115 |
chromosome 10 C1orf115 homolog |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chr10:10,115,917...10,127,722
Ensembl chr10:10,115,923...10,127,714
|
|
G |
C14H10orf105 |
chromosome 14 C10orf105 homolog |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar Annotator: match by term: Dystrophia retinae pigmentosa-dysostosis syndrome | ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 PMID:16199547 PMID:18273900 PMID:18429043 PMID:19683999 PMID:20146813 PMID:21228398 PMID:21569298 PMID:21940737 PMID:24033266 PMID:24875298 PMID:25468891 PMID:25741868 PMID:26467025 PMID:28492532 PMID:35020051 More...
|
|
NCBI chr14:74,630,827...74,639,180
Ensembl chr14:74,629,796...74,638,022
|
|
G |
CABP4 |
calcium binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 2:5,068,535...5,079,482
Ensembl chr 2:5,068,037...5,072,188
|
|
G |
CCDC40 |
coiled-coil domain 40 molecular ruler complex subunit |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr12:2,341,953...2,384,066
Ensembl chr12:2,341,957...2,384,025
|
|
G |
CDH23 |
cadherin related 23 |
|
ISO |
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:12522556 PMID:15353998 PMID:15537665 PMID:15660226 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:20146813 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21078986 PMID:21174530 PMID:21228398 PMID:21436283 PMID:21569298 PMID:21738395 PMID:21940737 PMID:22135276 PMID:22443853 PMID:22607986 PMID:22899989 PMID:22995991 PMID:23208854 PMID:23451239 PMID:23591405 PMID:23757202 PMID:23794683 PMID:23804846 PMID:23967202 PMID:24033266 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:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25474345 PMID:25587757 PMID:25605338 PMID:25741868 PMID:25788563 PMID:25963016 PMID:25991456 PMID:26226137 PMID:26264712 PMID:26399936 PMID:26445815 PMID:26467025 PMID:26681316 PMID:26763877 PMID:26969326 PMID:27018795 PMID:27068579 PMID:27349180 PMID:27460420 PMID:27583405 PMID:27627659 PMID:27743452 PMID:27792758 PMID:27884173 PMID:28483220 PMID:28492532 PMID:28501645 PMID:28847902 PMID:28902392 PMID:28912962 PMID:29048421 PMID:29148562 PMID:29343940 PMID:29986705 PMID:30029624 PMID:30033219 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30367262 PMID:30459346 PMID:30718709 PMID:30733538 PMID:31054281 PMID:31152317 PMID:31445392 PMID:32279305 PMID:32467589 PMID:32485727 PMID:32645618 PMID:32747562 PMID:32842620 PMID:32860223 PMID:32991204 PMID:33111992 PMID:33576794 PMID:34837038 PMID:34906470 PMID:34948090 PMID:34997822 PMID:35020051 PMID:35186827 PMID:35802133 PMID:36011334 PMID:36460718 PMID:36633841 PMID:36672845 More...
|
|
NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834
|
|
G |
CEP250 |
centrosomal protein 250 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:24780881 PMID:25741868 |
|
NCBI chr17:38,809,724...38,872,796
Ensembl chr17:38,810,522...38,867,203
|
|
G |
CIB2 |
calcium and integrin binding family member 2 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26173970 PMID:26214305 PMID:26226137 PMID:26426422 PMID:26445815 PMID:26992781 PMID:28492532 PMID:28663585 PMID:29112224 PMID:30055715 PMID:30311386 PMID:34837038 More...
|
|
NCBI chr 7:47,807,806...47,813,400
Ensembl chr 7:47,788,646...47,813,399
|
|
G |
CLRN1 |
clarin 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:7407589 PMID:11524702 PMID:15521980 PMID:17407589 PMID:17893653 PMID:19753315 PMID:21675857 PMID:22952768 PMID:23304067 PMID:24033266 PMID:24498627 PMID:25472526 PMID:25741868 PMID:25743179 PMID:26338283 PMID:27460420 PMID:28224992 PMID:28492532 PMID:29545425 PMID:31097578 PMID:31836858 PMID:31963381 PMID:35481838 More...
|
|
NCBI chr13:91,104,850...91,152,397
Ensembl chr13:91,106,207...91,148,031
|
|
G |
COCH |
cochlin |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:30311386 |
|
NCBI chr 7:68,580,124...68,595,142
Ensembl chr 7:68,576,153...68,594,077
|
|
G |
COL4A4 |
collagen type IV alpha 4 chain |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:128,472,228...128,612,302
Ensembl chr15:128,476,257...128,595,477
|
|
G |
CRB1 |
crumbs cell polarity complex component 1 |
|
ISO |
ClinVar Annotator: match by term: Hallgren syndrome |
ClinVar |
PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 PMID:25741868 PMID:26047050 PMID:28129017 PMID:28341475 PMID:28492532 PMID:29391521 PMID:30718709 PMID:33546218 PMID:34906470 More...
|
|
NCBI chr10:20,137,246...20,332,539
Ensembl chr10:20,137,451...20,332,414
|
|
G |
CRX |
cone-rod homeobox |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:53,506,410...53,509,858
Ensembl chr 6:53,506,410...53,512,190
|
|
G |
DGKQ |
diacylglycerol kinase theta |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:313,325...325,089
Ensembl chr 8:313,329...325,095
|
|
G |
DUSP10 |
dual specificity phosphatase 10 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chr10:10,866,446...10,905,852
Ensembl chr10:10,866,448...10,905,857
|
|
G |
EPRS1 |
glutamyl-prolyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chr10:9,579,301...9,648,416
Ensembl chr10:9,579,304...9,648,414
|
|
G |
ESRRG |
estrogen related receptor gamma |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chr10:6,710,615...7,371,419
Ensembl chr10:6,712,860...6,941,501
|
|
G |
FMC1 |
formation of mitochondrial complex V assembly factor 1 homolog |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr18:10,346,029...10,350,372
Ensembl chr18:10,346,032...10,350,339
|
|
G |
GPATCH2 |
G-patch domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chr10:7,615,121...7,797,227
Ensembl chr10:7,615,604...7,797,214
|
|
G |
GUCA1A |
guanylate cyclase activator 1A |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:11146732 PMID:28492532 PMID:30718709 |
|
NCBI chr 7:37,282,630...37,296,713
Ensembl chr 7:37,282,700...37,296,717
|
|
G |
HARS1 |
histidyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
|
|
NCBI chr 2:142,387,563...142,401,232
Ensembl chr 2:142,385,872...142,401,208
|
|
G |
HDAC6 |
histone deacetylase 6 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr X:42,917,911...42,941,894
Ensembl chr X:42,917,964...42,941,887
|
|
G |
HHIPL2 |
HHIP like 2 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chr10:11,315,847...11,345,043
Ensembl chr10:11,315,849...11,336,308
|
|
G |
HLX |
H2.0 like homeobox |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chr10:10,263,441...10,269,882
Ensembl chr10:10,264,244...10,269,879
|
|
G |
IARS2 |
isoleucyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chr10:9,685,641...9,739,816
Ensembl chr10:9,685,678...9,737,159
|
|
G |
LOC102162486 |
putative RNA-binding protein Luc7-like 2 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr18:10,268,077...10,333,227
Ensembl chr18:10,268,960...10,333,156
|
|
G |
LOC106504299 |
serpin B6 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 |
|
NCBI chr 7:1,755,252...1,776,144
Ensembl chr 7:1,752,689...1,776,087
|
|
G |
LYPLAL1 |
lysophospholipase like 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chr10:8,946,463...9,061,033
Ensembl chr10:8,946,487...9,062,412
|
|
G |
MARK1 |
microtubule affinity regulating kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chr10:9,980,277...10,106,507
Ensembl chr10:9,980,383...10,104,867
|
|
G |
MIR194B |
microRNA mir-194b |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chr10:9,704,910...9,704,987
Ensembl chr10:9,704,910...9,704,987
|
|
G |
MTARC1 |
mitochondrial amidoxime reducing component 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chr10:10,190,759...10,264,467
Ensembl chr10:10,190,835...10,216,175
|
|
G |
MTARC2 |
mitochondrial amidoxime reducing component 2 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chr10:10,156,732...10,194,371
Ensembl chr10:10,156,728...10,189,924
|
|
G |
MYO7A |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome | ClinVar Annotator: match by term: Usher's syndrome |
ClinVar |
PMID:3130723 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 PMID:9171832 PMID:9259201 PMID:9382091 PMID:9536098 PMID:9718356 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10868224 PMID:10930322 PMID:12112664 PMID:15028842 PMID:15043528 PMID:15121790 PMID:15221449 PMID:15300860 PMID:15606003 PMID:15660226 PMID:15823922 PMID:16199547 PMID:16283880 PMID:16400615 PMID:16470552 PMID:16652077 PMID:16679490 PMID:16963483 PMID:17361009 PMID:17576681 PMID:17960123 PMID:18181211 PMID:18323324 PMID:18463160 PMID:18484607 PMID:18700726 PMID:19074810 PMID:19156839 PMID:19299023 PMID:19375528 PMID:19683999 PMID:19888295 PMID:20052763 PMID:20132242 PMID:20146813 PMID:20497194 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21117948 PMID:21311020 PMID:21436283 PMID:21487335 PMID:21569298 PMID:21602428 PMID:21738395 PMID:21873662 PMID:21901789 PMID:22135276 PMID:22219650 PMID:22334370 PMID:22681893 PMID:22690115 PMID:22785243 PMID:22898263 PMID:22903915 PMID:23148716 PMID:23208854 PMID:23226338 PMID:23237960 PMID:23451214 PMID:23451239 PMID:23559863 PMID:23591405 PMID:23770805 PMID:23804846 PMID:23882135 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24194196 PMID:24199935 PMID:24498627 PMID:24618850 PMID:24831256 PMID:24853665 PMID:24875298 PMID:24997346 PMID:25080338 PMID:25133751 PMID:25211151 PMID:25262649 PMID:25326637 PMID:25333064 PMID:25342930 PMID:25373420 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25741868 PMID:25741913 PMID:25741916 PMID:25788563 PMID:25798947 PMID:26011067 PMID:26164827 PMID:26226137 PMID:26309859 PMID:26338283 PMID:26346818 PMID:26445815 PMID:26467025 PMID:26486028 PMID:26561413 PMID:26633542 PMID:26654877 PMID:26791358 PMID:26872967 PMID:26969326 PMID:27013738 PMID:27068579 PMID:27160483 PMID:27208204 PMID:27344577 PMID:27440999 PMID:27460420 PMID:27573290 PMID:27583663 PMID:27610647 PMID:27729122 PMID:27743452 PMID:27766948 PMID:27911912 PMID:27957503 PMID:28000701 PMID:28008688 PMID:28041643 PMID:28281779 PMID:28439001 PMID:28451532 PMID:28472130 PMID:28492532 PMID:28559085 PMID:28944237 PMID:28968992 PMID:29048421 PMID:29142287 PMID:29196752 PMID:29276601 PMID:29416772 PMID:29490346 PMID:29625443 PMID:29692870 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30337596 PMID:30358468 PMID:30459346 PMID:30718709 PMID:30733538 PMID:30828346 PMID:30881389 PMID:31035849 PMID:31054281 PMID:31266775 PMID:31456290 PMID:31479088 PMID:31541171 PMID:31836858 PMID:31964843 PMID:32097363 PMID:32165824 PMID:32428919 PMID:32467589 PMID:32531858 PMID:32747562 PMID:32853555 PMID:32860223 PMID:33105617 PMID:33111345 PMID:33187236 PMID:33258288 PMID:33269433 PMID:33297549 PMID:33363762 PMID:33576163 PMID:33576794 PMID:33623043 PMID:33671976 PMID:33724713 PMID:33924653 PMID:34148116 PMID:34416374 PMID:34426522 PMID:34837038 PMID:34948090 PMID:35453549 PMID:35551639 PMID:35640668 PMID:35802133 PMID:36147510 PMID:36164746 PMID:36633841 PMID:36672771 PMID:36909829 More...
|
|
NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
|
|
G |
OTOA |
otoancorin |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:23173898 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:23,570,216...23,662,948
Ensembl chr 3:23,570,382...23,662,480
|
|
G |
PAX3 |
paired box 3 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr15:124,093,803...124,193,041
Ensembl chr15:124,094,295...124,193,011
|
|
G |
PCDH15 |
protocadherin related 15 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 PMID:15028842 PMID:15537665 PMID:15660226 PMID:16679490 PMID:16963483 PMID:17576681 PMID:18484607 PMID:19375528 PMID:20301442 PMID:20672374 PMID:21569298 PMID:22135276 PMID:22183965 PMID:22815625 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24498627 PMID:24618850 PMID:24831256 PMID:24940003 PMID:25262649 PMID:25307757 PMID:25468891 PMID:25525159 PMID:25741868 PMID:25741898 PMID:26166082 PMID:26467025 PMID:26791358 PMID:27058588 PMID:27440999 PMID:27460420 PMID:27861356 PMID:28041643 PMID:28281779 PMID:28492532 PMID:28847902 PMID:30245029 PMID:30311386 PMID:30718709 PMID:33576794 PMID:34416374 More...
|
|
NCBI chr14:95,530,168...96,388,032
|
|
G |
PDE6A |
phosphodiesterase 6A |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:24265693 PMID:25182519 PMID:25741868 PMID:28492532 |
|
NCBI chr 2:150,926,652...150,986,050
Ensembl chr 2:150,927,770...150,985,318
|
|
G |
PDZD7 |
PDZ domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr14:112,088,332...112,111,348
|
|
G |
PROM1 |
prominin 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:28492532 |
|
NCBI chr 8:11,215,659...11,331,442
Ensembl chr 8:11,215,663...11,317,312
|
|
G |
PRPH2 |
peripherin 2 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32531846 |
|
NCBI chr 7:37,788,547...37,805,142
Ensembl chr 7:37,790,178...37,805,142
|
|
G |
PSAP |
prosaposin |
|
ISO |
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
|
|
NCBI chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763
|
|
G |
RAB3GAP2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chr10:9,734,766...9,828,330
Ensembl chr10:9,734,768...9,828,525
|
|
G |
RRP15 |
ribosomal RNA processing 15 homolog |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chr10:8,253,798...8,296,143
Ensembl chr10:8,253,822...8,303,860
|
|
G |
SLC30A10 |
solute carrier family 30 member 10 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chr10:9,527,523...9,545,493
|
|
G |
SPATA17 |
spermatogenesis associated 17 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chr10:7,797,448...8,120,892
Ensembl chr10:7,797,502...7,971,824
|
|
G |
TAF1A |
TATA-box binding protein associated factor, RNA polymerase I subunit A |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chr10:11,340,637...11,362,432
Ensembl chr10:11,340,642...11,362,432
|
|
G |
TGFB2 |
transforming growth factor beta 2 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:28041643 |
|
NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,539...8,390,341
|
|
G |
USH1C |
USH1 protein network component harmonin |
treatment |
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome |
RGD ClinVar |
PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16199547 PMID:16679490 PMID:17174357 PMID:17407589 PMID:18665195 PMID:20095043 PMID:20142502 PMID:20301442 PMID:20613545 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:23380860 PMID:24033266 PMID:24498627 PMID:25468891 PMID:25525159 PMID:25560255 PMID:25741868 PMID:26969326 PMID:27440999 PMID:27957503 PMID:28041643 PMID:28492532 PMID:29276601 PMID:29907799 PMID:30096381 PMID:30303587 PMID:30718709 More...
|
RGD:8695937 |
NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247
|
|
G |
USH1G |
USH1 protein network component sans |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr12:6,333,640...6,341,083
Ensembl chr12:6,334,310...6,340,361
|
|
G |
USH2A |
usherin |
susceptibility |
ISO |
DNA:snps, insertion:exon, intron:multiple (human) ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome |
RGD ClinVar |
PMID:1968399 PMID:2525289 PMID:2564938 PMID:9536098 PMID:9624053 PMID:10090909 PMID:10729113 PMID:10738000 PMID:10775529 PMID:10909849 PMID:11311042 PMID:11402400 PMID:12112664 PMID:12427073 PMID:12525556 PMID:14970843 PMID:15015129 PMID:15025721 PMID:15043528 PMID:15241801 PMID:15325563 PMID:15326663 PMID:15671307 PMID:15823922 PMID:16098008 PMID:16114888 PMID:16199547 PMID:16963483 PMID:17085681 PMID:17296898 PMID:17405132 PMID:17576681 PMID:18273898 PMID:18281613 PMID:18452394 PMID:18463160 PMID:18641288 PMID:18665195 PMID:19023448 PMID:19129697 PMID:19683999 PMID:19737284 PMID:19881469 PMID:20052763 PMID:20145675 PMID:20301442 PMID:20301515 PMID:20440071 PMID:20497194 PMID:20507924 PMID:20591486 PMID:20596040 PMID:21151602 PMID:21569298 PMID:21593743 PMID:21686329 PMID:21738395 PMID:21909055 PMID:22004887 PMID:22009552 PMID:22025579 PMID:22135276 PMID:22334370 PMID:22581970 PMID:22681893 PMID:22952768 PMID:23591405 PMID:23661368 PMID:23737954 PMID:23804846 PMID:23924366 PMID:23940504 PMID:23967202 PMID:23991284 PMID:24033266 PMID:24088041 PMID:24154662 PMID:24160897 PMID:24265693 PMID:24367894 PMID:24498627 PMID:24516651 PMID:24603341 PMID:24607488 PMID:24618324 PMID:24625443 PMID:24853665 PMID:24901346 PMID:24938718 PMID:24944099 PMID:25078356 PMID:25097241 PMID:25133613 PMID:25133751 PMID:25252889 PMID:25261458 PMID:25262649 PMID:25268133 PMID:25324289 PMID:25326637 PMID:25333064 PMID:25342620 PMID:25356976 PMID:25366773 PMID:25375654 PMID:25404053 PMID:25412400 PMID:25425308 PMID:25472526 PMID:25521520 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25649381 PMID:25741868 PMID:25741915 PMID:25804404 PMID:25823529 PMID:25910913 PMID:25991456 PMID:25999674 PMID:26075083 PMID:26164827 PMID:26261414 PMID:26306921 PMID:26310143 PMID:26338283 PMID:26352687 PMID:26355662 PMID:26416264 PMID:26467025 PMID:26496393 PMID:26629787 PMID:26633545 PMID:26667666 PMID:26764160 PMID:26766544 PMID:26806561 PMID:26856745 PMID:26872967 PMID:26927203 PMID:26969326 PMID:27032803 PMID:27157150 PMID:27160483 PMID:27208204 PMID:27318125 PMID:27460420 PMID:27583663 PMID:27596865 PMID:27624628 PMID:27957503 PMID:28041643 PMID:28118666 PMID:28130426 PMID:28157192 PMID:28224992 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28653555 PMID:28678594 PMID:28761320 PMID:28798898 PMID:28894305 PMID:28944237 PMID:28981474 PMID:29074561 PMID:29142287 PMID:29196752 PMID:29266521 PMID:29276052 PMID:29283788 PMID:29293505 PMID:29343940 PMID:29490346 PMID:29588463 PMID:29625443 PMID:29641573 PMID:29655801 PMID:29767709 PMID:29899460 PMID:29912909 PMID:29940899 PMID:29953849 PMID:30029497 PMID:30081015 PMID:30190494 PMID:30192042 PMID:30245029 PMID:30280194 PMID:30311386 PMID:30337596 PMID:30459346 PMID:30543658 PMID:30718709 PMID:30796641 PMID:30826590 PMID:30872814 PMID:30902645 PMID:30924848 PMID:30948794 PMID:31047384 PMID:31054281 PMID:31144483 PMID:31152317 PMID:31213501 PMID:31266775 PMID:31370859 PMID:31429209 PMID:31456290 PMID:31589614 PMID:31699113 PMID:31736247 PMID:31816670 PMID:31817543 PMID:31836858 PMID:31877679 PMID:31904091 PMID:31960602 PMID:31980526 PMID:31998945 PMID:32037395 PMID:32093671 PMID:32098976 PMID:32100970 PMID:32176120 PMID:32188678 PMID:32319668 PMID:32483926 PMID:32531858 PMID:32552793 PMID:32579692 PMID:32581362 PMID:32637036 PMID:32675063 PMID:32707200 PMID:32893482 PMID:33089500 PMID:33090715 PMID:33111345 PMID:33124170 PMID:33576794 PMID:33691693 PMID:33749171 PMID:33781268 PMID:33946315 PMID:34008892 PMID:34130719 PMID:34148116 PMID:34203967 PMID:34416374 PMID:34426522 PMID:34599368 PMID:34638692 PMID:34781295 PMID:34906470 PMID:34948090 PMID:35266249 PMID:35457016 PMID:35672425 PMID:36011334 PMID:36314366 PMID:36460718 PMID:36909829 PMID:37322672 More...
|
RGD:8547956 |
NCBI chr10:5,825,591...6,662,733
|
|
G |
WHRN |
whirlin |
|
ISO |
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:11973626 PMID:12833159 PMID:15841483 PMID:21569298 PMID:22147658 PMID:24033266 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 1:255,009,765...255,095,281
Ensembl chr 1:255,009,771...255,095,222
|
|
G |
ZDHHC24 |
zinc finger DHHC-type containing 24 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome |
ClinVar |
PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 PMID:17980398 PMID:18032602 PMID:18669544 PMID:18766993 PMID:20301537 PMID:20498079 PMID:21052717 PMID:21642631 PMID:22581970 PMID:22940089 PMID:22998390 PMID:23143442 PMID:23565731 PMID:23847139 PMID:23943788 PMID:24033266 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26872967 PMID:27032803 PMID:27659767 PMID:28041643 PMID:28492532 PMID:29264490 PMID:30614526 PMID:30718709 PMID:33532864 PMID:36909829 More...
|
|
NCBI chr 2:5,874,509...5,883,525
|
|
|
G |
ADGRV1 |
adhesion G protein-coupled receptor V1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1 |
ClinVar |
PMID:21569298 PMID:24033266 PMID:28492532 |
|
NCBI chr 2:97,703,648...98,277,847
Ensembl chr 2:97,735,053...98,275,748
|
|
G |
C14H10orf105 |
chromosome 14 C10orf105 homolog |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1 |
ClinVar |
PMID:9536098 PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 PMID:16199547 PMID:17576681 PMID:18273900 PMID:18429043 PMID:19683999 PMID:20146813 PMID:20613545 PMID:21228398 PMID:21569298 PMID:21940737 PMID:22135276 PMID:24033266 PMID:24875298 PMID:25468891 PMID:25741868 PMID:26467025 PMID:27460420 PMID:28492532 PMID:30311386 PMID:35020051 More...
|
|
NCBI chr14:74,630,827...74,639,180
Ensembl chr14:74,629,796...74,638,022
|
|
G |
CDH23 |
cadherin related 23 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1 |
ClinVar |
PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:12522556 PMID:15353998 PMID:15537665 PMID:15660226 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:20052763 PMID:20146813 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21078986 PMID:21228398 PMID:21436283 PMID:21569298 PMID:21738395 PMID:21940737 PMID:22135276 PMID:22443853 PMID:22607986 PMID:22899989 PMID:22995991 PMID:23208854 PMID:23451239 PMID:23591405 PMID:23757202 PMID:23767834 PMID:23794683 PMID:23804846 PMID:23967202 PMID:24033266 PMID:24164807 PMID:24416283 PMID:24498627 PMID:24618850 PMID:24767429 PMID:24875298 PMID:25211151 PMID:25231367 PMID:25262649 PMID:25279224 PMID:25356970 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25474345 PMID:25587757 PMID:25605338 PMID:25741868 PMID:25788563 PMID:25963016 PMID:25991456 PMID:26226137 PMID:26264712 PMID:26399936 PMID:26445815 PMID:26467025 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:28383030 PMID:28413019 PMID:28483220 PMID:28492532 PMID:28847902 PMID:28912962 PMID:29148562 PMID:29343940 PMID:29986705 PMID:30029624 PMID:30033219 PMID:30123251 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30367262 PMID:30459346 PMID:30718709 PMID:30733538 PMID:31054281 PMID:31152317 PMID:31231422 PMID:31445392 PMID:32467589 PMID:32483926 PMID:32485727 PMID:32645618 PMID:32991204 PMID:33089500 PMID:33111992 PMID:33316915 PMID:33924653 PMID:34403091 PMID:34837038 PMID:35020051 PMID:35186827 PMID:35982127 PMID:36011334 More...
|
|
NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834
|
|
G |
CIB2 |
calcium and integrin binding family member 2 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1 |
ClinVar |
PMID:18505454 PMID:20301442 PMID:23023331 |
|
NCBI chr 7:47,807,806...47,813,400
Ensembl chr 7:47,788,646...47,813,399
|
|
G |
ESPN |
espin |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1 |
ClinVar |
PMID:29572253 |
|
NCBI chr 6:67,284,106...67,316,577
Ensembl chr 6:67,284,079...67,316,591
|
|
G |
MYO7A |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1 |
ClinVar |
PMID:3130723 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 PMID:9171832 PMID:9259201 PMID:9382091 PMID:9536098 PMID:9718356 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10868224 PMID:10930322 PMID:12112664 PMID:15028842 PMID:15043528 PMID:15121790 PMID:15221449 PMID:15300860 PMID:15606003 PMID:15660226 PMID:15823922 PMID:16199547 PMID:16283880 PMID:16400615 PMID:16470552 PMID:16652077 PMID:16679490 PMID:16786533 PMID:16963483 PMID:17093394 PMID:17361009 PMID:17576681 PMID:17960123 PMID:18181211 PMID:18323324 PMID:18463160 PMID:18484607 PMID:18700726 PMID:19074810 PMID:19156839 PMID:19299023 PMID:19683999 PMID:20052763 PMID:20146813 PMID:20497194 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21117948 PMID:21311020 PMID:21436283 PMID:21487335 PMID:21569298 PMID:21602428 PMID:21738395 PMID:21873662 PMID:21901789 PMID:22135276 PMID:22219650 PMID:22334370 PMID:22593002 PMID:22681893 PMID:22690115 PMID:22785243 PMID:22898263 PMID:22903915 PMID:23148716 PMID:23208854 PMID:23226338 PMID:23237960 PMID:23451214 PMID:23451239 PMID:23559863 PMID:23591405 PMID:23770805 PMID:23804846 PMID:23882135 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24194196 PMID:24199935 PMID:24498627 PMID:24618850 PMID:24831256 PMID:24853665 PMID:24875298 PMID:24997346 PMID:25080338 PMID:25133751 PMID:25211151 PMID:25262649 PMID:25333064 PMID:25342930 PMID:25373420 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25741868 PMID:25741905 PMID:25741913 PMID:25741916 PMID:25788563 PMID:25798947 PMID:26011067 PMID:26164827 PMID:26226137 PMID:26309859 PMID:26338283 PMID:26346818 PMID:26445815 PMID:26467025 PMID:26469752 PMID:26486028 PMID:26561413 PMID:26633542 PMID:26654877 PMID:26791358 PMID:26872967 PMID:26969326 PMID:27068579 PMID:27160483 PMID:27208204 PMID:27344577 PMID:27440999 PMID:27460420 PMID:27573290 PMID:27583663 PMID:27610647 PMID:27729122 PMID:27743452 PMID:27766948 PMID:27911912 PMID:27957503 PMID:28000701 PMID:28008688 PMID:28041643 PMID:28281779 PMID:28439001 PMID:28472130 PMID:28492532 PMID:28559085 PMID:28944237 PMID:28968992 PMID:29048421 PMID:29142287 PMID:29196752 PMID:29276601 PMID:29416772 PMID:29490346 PMID:29625443 PMID:29692870 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30337596 PMID:30358468 PMID:30459346 PMID:30718709 PMID:30733538 PMID:30828346 PMID:30881389 PMID:31035849 PMID:31266775 PMID:31429209 PMID:31456290 PMID:31479088 PMID:31541171 PMID:31816670 PMID:31836858 PMID:31964843 PMID:32097363 PMID:32428919 PMID:32467589 PMID:32531858 PMID:32747562 PMID:32853555 PMID:32860223 PMID:33105617 PMID:33111345 PMID:33187236 PMID:33269433 PMID:33297549 PMID:33363762 PMID:33576163 PMID:33576794 PMID:33623043 PMID:33671976 PMID:33724713 PMID:33924653 PMID:34148116 PMID:34416374 PMID:34426522 PMID:34837038 PMID:34948090 PMID:35453549 PMID:35551639 PMID:35640668 PMID:35802133 PMID:36147510 PMID:36164746 PMID:36633841 PMID:36672771 PMID:36909829 More...
|
|
NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
|
|
G |
PCDH15 |
protocadherin related 15 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1 |
ClinVar |
PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 PMID:15028842 PMID:15537665 PMID:15660226 PMID:16679490 PMID:16963483 PMID:17576681 PMID:20301442 PMID:20672374 PMID:21569298 PMID:22135276 PMID:22183965 PMID:22815625 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24498627 PMID:24618850 PMID:24831256 PMID:24940003 PMID:25262649 PMID:25307757 PMID:25468891 PMID:25525159 PMID:25741868 PMID:26166082 PMID:26467025 PMID:26791358 PMID:26969326 PMID:27058588 PMID:27208204 PMID:27440999 PMID:27460420 PMID:27610647 PMID:27766948 PMID:27861356 PMID:28492532 PMID:28847902 PMID:30245029 PMID:30311386 PMID:30718709 PMID:31054281 PMID:33090715 PMID:33576794 PMID:34416374 More...
|
|
NCBI chr14:95,530,168...96,388,032
|
|
G |
PSAP |
prosaposin |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1 |
ClinVar |
PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
|
|
NCBI chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763
|
|
G |
USH1C |
USH1 protein network component harmonin |
onset |
ISO |
DNA:deletion:exon:c.1220delG(human) ClinVar Annotator: match by term: Usher syndrome type 1 |
RGD ClinVar |
PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16199547 PMID:16679490 PMID:17174357 PMID:17407589 PMID:18665195 PMID:20095043 PMID:20142502 PMID:20301442 PMID:20613545 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:23251578 PMID:24033266 PMID:24498627 PMID:25356976 PMID:25468891 PMID:25525159 PMID:25560255 PMID:25741868 PMID:26969326 PMID:27440999 PMID:27957503 PMID:28041643 PMID:28492532 PMID:29276601 PMID:29907799 PMID:30096381 PMID:30303587 PMID:30718709 PMID:33095980 More...
|
RGD:8695919 |
NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247
|
|
G |
USH1G |
USH1 protein network component sans |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1 |
ClinVar |
PMID:11941484 PMID:12588794 PMID:21569298 PMID:25741868 PMID:28492532 |
|
NCBI chr12:6,333,640...6,341,083
Ensembl chr12:6,334,310...6,340,361
|
|
G |
USH2A |
usherin |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1 |
ClinVar |
PMID:20301442 PMID:21569298 PMID:24033266 PMID:25741868 PMID:26667666 PMID:26927203 PMID:28041643 PMID:28492532 PMID:28559085 PMID:30245029 PMID:32531858 PMID:34906470 More...
|
|
NCBI chr10:5,825,591...6,662,733
|
|
|
G |
C14H10orf105 |
chromosome 14 C10orf105 homolog |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B |
ClinVar |
PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 PMID:18273900 PMID:18429043 PMID:19683999 PMID:20146813 PMID:21228398 PMID:21569298 PMID:24033266 PMID:24875298 PMID:25468891 PMID:25741868 PMID:26467025 PMID:28492532 PMID:35020051 More...
|
|
NCBI chr14:74,630,827...74,639,180
Ensembl chr14:74,629,796...74,638,022
|
|
G |
CDH23 |
cadherin related 23 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety |
ClinVar |
PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:12522556 PMID:15353998 PMID:15537665 PMID:15660226 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:20146813 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21078986 PMID:21228398 PMID:21436283 PMID:21569298 PMID:21738395 PMID:21940737 PMID:22135276 PMID:22443853 PMID:22607986 PMID:22899989 PMID:22995991 PMID:23208854 PMID:23451239 PMID:23591405 PMID:23757202 PMID:23794683 PMID:23804846 PMID:23967202 PMID:24033266 PMID:24164807 PMID:24416283 PMID:24498627 PMID:24618850 PMID:24767429 PMID:24875298 PMID:25231367 PMID:25262649 PMID:25279224 PMID:25356970 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25474345 PMID:25587757 PMID:25605338 PMID:25741868 PMID:25788563 PMID:25963016 PMID:25991456 PMID:26226137 PMID:26264712 PMID:26399936 PMID:26445815 PMID:26467025 PMID:26763877 PMID:26969326 PMID:27018795 PMID:27068579 PMID:27349180 PMID:27460420 PMID:27583405 PMID:27627659 PMID:27743452 PMID:27792758 PMID:27884173 PMID:28483220 PMID:28492532 PMID:28847902 PMID:28912962 PMID:29148562 PMID:29343940 PMID:29986705 PMID:30029624 PMID:30033219 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30367262 PMID:30459346 PMID:30718709 PMID:30733538 PMID:31054281 PMID:31152317 PMID:31445392 PMID:32467589 PMID:32485727 PMID:32645618 PMID:32991204 PMID:33111992 PMID:34837038 PMID:35020051 PMID:35186827 PMID:36011334 More...
|
|
NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834
|
|
G |
MYO7A |
myosin VIIA |
treatment |
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety |
OMIM ClinVar RGD |
PMID:3130723 PMID:7568224 PMID:7870171 PMID:7951250 PMID:8900236 PMID:9002678 PMID:9171832 PMID:9171833 PMID:9259201 PMID:9354784 PMID:9382091 PMID:9536098 PMID:9718356 PMID:9843659 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10868224 PMID:10930322 PMID:11391666 PMID:12112664 PMID:15028842 PMID:15043528 PMID:15121790 PMID:15221449 PMID:15300860 PMID:15606003 PMID:15660226 PMID:15823922 PMID:16199547 PMID:16283880 PMID:16400615 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:19683999 PMID:20052763 PMID:20146813 PMID:20497194 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21117948 PMID:21150918 PMID:21311020 PMID:21436283 PMID:21487335 PMID:21569298 PMID:21602428 PMID:21738395 PMID:21873662 PMID:21901789 PMID:22135276 PMID:22219650 PMID:22334370 PMID:22681893 PMID:22690115 PMID:22785243 PMID:22898263 PMID:22903915 PMID:23148716 PMID:23208854 PMID:23226338 PMID:23237960 PMID:23383098 PMID:23451214 PMID:23451239 PMID:23559863 PMID:23591405 PMID:23770805 PMID:23804846 PMID:23882135 PMID:23967202 PMID:23991031 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24194196 PMID:24199935 PMID:24498627 PMID:24618850 PMID:24831256 PMID:24853665 PMID:24875298 PMID:24997346 PMID:25080338 PMID:25133751 PMID:25211151 PMID:25262649 PMID:25333064 PMID:25342930 PMID:25373420 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25741868 PMID:25741913 PMID:25741916 PMID:25788563 PMID:25798947 PMID:26011067 PMID:26164827 PMID:26226137 PMID:26309859 PMID:26338283 PMID:26346818 PMID:26445815 PMID:26467025 PMID:26486028 PMID:26561413 PMID:26633542 PMID:26654877 PMID:26791358 PMID:26872967 PMID:26969326 PMID:27068579 PMID:27160483 PMID:27208204 PMID:27344577 PMID:27440999 PMID:27460420 PMID:27573290 PMID:27583663 PMID:27610647 PMID:27729122 PMID:27743452 PMID:27766948 PMID:27911912 PMID:27957503 PMID:28000701 PMID:28008688 PMID:28041643 PMID:28281779 PMID:28439001 PMID:28451532 PMID:28472130 PMID:28492532 PMID:28559085 PMID:28731162 PMID:28944237 PMID:28968992 PMID:29048421 PMID:29142287 PMID:29178603 PMID:29196752 PMID:29276601 PMID:29416772 PMID:29490346 PMID:29625443 PMID:29692870 PMID:30029497 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30337596 PMID:30358468 PMID:30390570 PMID:30459346 PMID:30718709 PMID:30733538 PMID:30828346 PMID:30881389 PMID:31035849 PMID:31054281 PMID:31266775 PMID:31456290 PMID:31479088 PMID:31541171 PMID:31964843 PMID:32097363 PMID:32428919 PMID:32467589 PMID:32531858 PMID:32747562 PMID:32853555 PMID:32860223 PMID:33089500 PMID:33105617 PMID:33111345 PMID:33187236 PMID:33269433 PMID:33297549 PMID:33363762 PMID:33576163 PMID:33576794 PMID:33623043 PMID:33671976 PMID:33724713 PMID:33924653 PMID:34148116 PMID:34416374 PMID:34426522 PMID:34837038 PMID:34948090 PMID:35453549 PMID:35551639 PMID:35640668 PMID:35802133 PMID:36147510 PMID:36164746 PMID:36633841 PMID:36672771 PMID:36909829 More...
|
RGD:8694151 |
NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
|
|
G |
PCDH15 |
protocadherin related 15 |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B |
ClinVar |
PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 PMID:15028842 PMID:15537665 PMID:15660226 PMID:16679490 PMID:16963483 PMID:17576681 PMID:20301442 PMID:20672374 PMID:21569298 PMID:22135276 PMID:22183965 PMID:22815625 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24498627 PMID:24618850 PMID:24831256 PMID:24940003 PMID:25262649 PMID:25307757 PMID:25468891 PMID:25525159 PMID:25741868 PMID:26166082 PMID:26467025 PMID:26791358 PMID:27058588 PMID:27440999 PMID:27460420 PMID:27861356 PMID:28492532 PMID:28847902 PMID:30245029 PMID:30311386 PMID:30718709 PMID:33576794 PMID:34416374 More...
|
|
NCBI chr14:95,530,168...96,388,032
|
|
G |
PSAP |
prosaposin |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B |
ClinVar |
PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
|
|
NCBI chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763
|
|
G |
USH1C |
USH1 protein network component harmonin |
|
ISO |
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness |
ClinVar |
PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16199547 PMID:16679490 PMID:17174357 PMID:17407589 PMID:18665195 PMID:20095043 PMID:20142502 PMID:20301442 PMID:20613545 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:24033266 PMID:24498627 PMID:25468891 PMID:25525159 PMID:25560255 PMID:25741868 PMID:26969326 PMID:27440999 PMID:27957503 PMID:28041643 PMID:28492532 PMID:29276601 PMID:29907799 PMID:30096381 PMID:30303587 PMID:30718709 More...
|
|
NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247
|
|
|
G |
USH1C |
USH1 protein network component harmonin |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1C |
OMIM ClinVar |
PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16199547 PMID:16679490 PMID:16963483 PMID:17174357 PMID:17407589 PMID:17576681 PMID:18665195 PMID:19297620 PMID:20095043 PMID:20142502 PMID:20146813 PMID:20301442 PMID:20613545 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:22581970 PMID:23251578 PMID:23967202 PMID:24033266 PMID:24154662 PMID:24416283 PMID:24498627 PMID:24618850 PMID:24875298 PMID:25262649 PMID:25333064 PMID:25356976 PMID:25468891 PMID:25525159 PMID:25560255 PMID:25741868 PMID:25741913 PMID:25788563 PMID:26445815 PMID:26467025 PMID:26969326 PMID:27208204 PMID:27440999 PMID:27460420 PMID:27743452 PMID:27957503 PMID:28041643 PMID:28492532 PMID:29276601 PMID:29490346 PMID:29625443 PMID:29739340 PMID:29907799 PMID:30096381 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30718709 PMID:31858762 PMID:32036094 PMID:32467589 PMID:32531858 PMID:33095980 PMID:33781268 PMID:34148116 More...
|
|
NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247
|
|
|
G |
C14H10orf105 |
chromosome 14 C10orf105 homolog |
|
ISO |
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D |
ClinVar |
PMID:11090341 PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:17850630 PMID:18273900 PMID:18429043 PMID:20146813 PMID:20613545 PMID:21228398 PMID:21569298 PMID:21940737 PMID:22135276 PMID:22899989 PMID:24033266 PMID:24875298 PMID:25468891 PMID:25741868 PMID:25991456 PMID:26467025 PMID:27610647 PMID:28492532 PMID:28847902 PMID:30303587 PMID:30311386 PMID:31445392 More...
|
|
NCBI chr14:74,630,827...74,639,180
Ensembl chr14:74,629,796...74,638,022
|
|
G |
CDH23 |
cadherin related 23 |
|
ISO |
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D |
OMIM ClinVar |
PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:12522556 PMID:15353998 PMID:15537665 PMID:15660226 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:20146813 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21078986 PMID:21174530 PMID:21228398 PMID:21436283 PMID:21569298 PMID:21940737 PMID:22135276 PMID:22443853 PMID:22607986 PMID:22899989 PMID:22995991 PMID:23208854 PMID:23451239 PMID:23591405 PMID:23757202 PMID:23794683 PMID:23804846 PMID:23967202 PMID:24033266 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:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25474345 PMID:25525159 PMID:25587757 PMID:25605338 PMID:25741868 PMID:25741905 PMID:25788563 PMID:25963016 PMID:25991456 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:27610647 PMID:27627659 PMID:27743452 PMID:27792758 PMID:27884173 PMID:28383030 PMID:28483220 PMID:28492532 PMID:28501645 PMID:28847902 PMID:28912962 PMID:29048421 PMID:29148562 PMID:29343940 PMID:29986705 PMID:30029624 PMID:30033219 PMID:30123251 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30367262 PMID:30459346 PMID:30718709 PMID:30733538 PMID:30774966 PMID:30828794 PMID:31054281 PMID:31152317 PMID:31231422 PMID:31445392 PMID:31541171 PMID:31546658 PMID:31872526 PMID:32467589 PMID:32747562 PMID:32991204 PMID:33095980 PMID:33576794 PMID:34416374 PMID:34824372 PMID:34906470 PMID:34906502 PMID:34948090 PMID:35020051 PMID:35186827 PMID:36011334 PMID:36460718 PMID:36672845 More...
|
|
NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834
|
|
G |
PCDH15 |
protocadherin related 15 |
|
ISO |
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D |
OMIM ClinVar |
PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 PMID:15028842 PMID:15660226 PMID:16199547 PMID:16679490 PMID:17576681 PMID:18484607 PMID:18719945 PMID:19375528 PMID:20301442 PMID:21436283 PMID:21569298 PMID:22135276 PMID:22815625 PMID:22981120 PMID:23451239 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24498627 PMID:24618850 PMID:24831256 PMID:25262649 PMID:25307757 PMID:25468891 PMID:25525159 PMID:25741868 PMID:25741898 PMID:25741905 PMID:25999675 PMID:26166082 PMID:26467025 PMID:26872967 PMID:27058588 PMID:27460420 PMID:27610647 PMID:27766948 PMID:28000701 PMID:28281779 PMID:28492532 PMID:28847902 PMID:29568747 PMID:29625443 PMID:30245029 PMID:30311386 PMID:30718709 PMID:34416374 More...
|
|
NCBI chr14:95,530,168...96,388,032
|
|
G |
PSAP |
prosaposin |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1D |
ClinVar |
PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 More...
|
|
NCBI chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763
|
|
G |
VSIR |
V-set immunoregulatory receptor |
|
ISO |
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID |
ClinVar |
PMID:25741868 |
|
NCBI chr14:74,667,081...74,693,347
Ensembl chr14:74,666,624...74,693,281
|
|
|
G |
PCDH15 |
protocadherin related 15 |
|
ISO |
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F |
OMIM ClinVar |
PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 PMID:15028842 PMID:15537665 PMID:15660226 PMID:16199547 PMID:16283880 PMID:16679490 PMID:16963483 PMID:17277737 PMID:17576681 PMID:18484607 PMID:18719945 PMID:19107147 PMID:19375528 PMID:19683999 PMID:20301442 PMID:20538994 PMID:20672374 PMID:21436283 PMID:21569298 PMID:22135276 PMID:22183965 PMID:22815625 PMID:22952768 PMID:22981120 PMID:23451239 PMID:23462753 PMID:23591405 PMID:23767834 PMID:23804846 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24498627 PMID:24618850 PMID:24705292 PMID:24831256 PMID:24853665 PMID:24940003 PMID:25262649 PMID:25307757 PMID:25333064 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25525159 PMID:25575603 PMID:25741868 PMID:25741898 PMID:26166082 PMID:26226137 PMID:26279247 PMID:26346818 PMID:26445815 PMID:26467025 PMID:26791358 PMID:26872967 PMID:26969326 PMID:27058588 PMID:27068579 PMID:27208204 PMID:27440999 PMID:27460420 PMID:27583663 PMID:27610647 PMID:27743452 PMID:27766948 PMID:27861356 PMID:28000701 PMID:28281779 PMID:28492532 PMID:28559085 PMID:28847902 PMID:28900111 PMID:28944237 PMID:28968992 PMID:28984810 PMID:29074561 PMID:29568747 PMID:29625443 PMID:30029624 PMID:30054919 PMID:30245029 PMID:30311386 PMID:30459346 PMID:30718709 PMID:31054281 PMID:32467589 PMID:33089500 PMID:33090715 PMID:33111345 PMID:33576794 PMID:33749171 PMID:34416374 PMID:34744965 PMID:34751129 PMID:35836572 PMID:36147510 More...
|
|
NCBI chr14:95,530,168...96,388,032
|
|
|
G |
PCDH15 |
protocadherin related 15 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1G |
ClinVar |
PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 PMID:15028842 PMID:20301442 PMID:22815625 PMID:24033266 PMID:24105371 PMID:25262649 PMID:25307757 PMID:25525159 PMID:25741868 PMID:27460420 PMID:28492532 More...
|
|
NCBI chr14:95,530,168...96,388,032
|
|
G |
USH1G |
USH1 protein network component sans |
|
ISO |
ClinVar Annotator: match by term: USH1G-Related Disorders | ClinVar Annotator: match by term: USH1G-related condition | ClinVar Annotator: match by term: Usher syndrome type 1G |
OMIM ClinVar |
PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 PMID:16283141 PMID:17576681 PMID:17896313 PMID:20142502 PMID:21044053 PMID:22135276 PMID:22219650 PMID:23591405 PMID:24033266 PMID:25255398 PMID:25741868 PMID:26467025 PMID:26878454 PMID:27068579 PMID:27353947 PMID:28224992 PMID:28492532 PMID:28944237 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30828346 PMID:31637240 PMID:33095980 PMID:33946315 PMID:35802133 PMID:36633841 More...
|
|
NCBI chr12:6,333,640...6,341,083
Ensembl chr12:6,334,310...6,340,361
|
|
|
G |
CIB2 |
calcium and integrin binding family member 2 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 1J |
OMIM ClinVar |
PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 PMID:25741868 PMID:26173970 PMID:26226137 PMID:26445815 PMID:28492532 PMID:29112224 PMID:30303587 More...
|
|
NCBI chr 7:47,807,806...47,813,400
Ensembl chr 7:47,788,646...47,813,399
|
|
|
G |
ESPN |
espin |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome, type 1M |
OMIM ClinVar |
PMID:15930085 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29572253 PMID:33297549 More...
|
|
NCBI chr 6:67,284,106...67,316,577
Ensembl chr 6:67,284,079...67,316,591
|
|
|
G |
ADGRV1 |
adhesion G protein-coupled receptor V1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 2 |
ClinVar |
PMID:16199547 PMID:19357117 PMID:22135276 PMID:22147658 PMID:24033266 PMID:24123792 PMID:25741868 PMID:26226137 PMID:28492532 PMID:29924869 PMID:30245029 PMID:30718709 PMID:31047384 PMID:31456290 PMID:31980526 PMID:32037395 PMID:32467589 More...
|
|
NCBI chr 2:97,703,648...98,277,847
Ensembl chr 2:97,735,053...98,275,748
|
|
G |
CDH23 |
cadherin related 23 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 2 |
ClinVar |
PMID:25741868 |
|
NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834
|
|
G |
MYO7A |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 2 |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
|
|
G |
USH1C |
USH1 protein network component harmonin |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 2 |
ClinVar |
PMID:10973247 PMID:16199547 PMID:17407589 PMID:20301442 PMID:21203349 PMID:25741868 PMID:27460420 PMID:28492532 PMID:30311386 PMID:32531858 More...
|
|
NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247
|
|
G |
USH2A |
usherin |
susceptibility |
ISO |
DNA:frameshift mutations, missense mutations, nonsense mutation:exon:multiple (human) ClinVar Annotator: match by term: Usher syndrome type 2 DNA:mutations:multiple (human) DNA:snp:intron:c.7595-2144A>G (human) DNA:insertion, deletions, snps:multiple (human) |
RGD ClinVar |
PMID:2564938 PMID:9536098 PMID:10729113 PMID:10738000 PMID:10909849 PMID:11311042 PMID:12525556 PMID:15015129 PMID:15025721 PMID:15043528 PMID:15241801 PMID:15325563 PMID:15823922 PMID:16199547 PMID:16963483 PMID:17296898 PMID:17405132 PMID:17576681 PMID:18273898 PMID:18452394 PMID:18463160 PMID:18641288 PMID:18665195 PMID:19683999 PMID:19881469 PMID:20052763 PMID:20497194 PMID:20507924 PMID:20513143 PMID:21487335 PMID:21569298 PMID:21686329 PMID:21738395 PMID:22004887 PMID:22009552 PMID:22135276 PMID:23591405 PMID:23924366 PMID:24033266 PMID:24367894 PMID:24498627 PMID:24875298 PMID:24938718 PMID:24944099 PMID:25078356 PMID:25097241 PMID:25133613 PMID:25211151 PMID:25262649 PMID:25324289 PMID:25333064 PMID:25356976 PMID:25404053 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25649381 PMID:25741868 PMID:25741915 PMID:26310143 PMID:26338283 PMID:26355662 PMID:26629787 PMID:26927203 PMID:27032803 PMID:27160483 PMID:27318125 PMID:27344577 PMID:27460420 PMID:27596865 PMID:28041643 PMID:28130426 PMID:28157192 PMID:28492532 PMID:28559085 PMID:28653555 PMID:28894305 PMID:28944237 PMID:28981474 PMID:29074561 PMID:29142287 PMID:29293505 PMID:29490346 PMID:29625443 PMID:29899460 PMID:29986705 PMID:30190494 PMID:30245029 PMID:30311386 PMID:30459346 PMID:30718709 PMID:30948794 PMID:31213501 PMID:31231422 PMID:31456290 PMID:31589614 PMID:31817543 PMID:32036094 PMID:32037395 PMID:32176120 PMID:32531858 PMID:32552793 PMID:32637036 PMID:32893482 PMID:33576794 PMID:34426522 PMID:34906470 PMID:35076463 PMID:35266249 PMID:36314366 PMID:37287646 More...
|
RGD:8547952 RGD:8547962 RGD:8547965 RGD:8547985 |
NCBI chr10:5,825,591...6,662,733
|
|
|
G |
ADGRV1 |
adhesion G protein-coupled receptor V1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 2A |
ClinVar |
|
|
NCBI chr 2:97,703,648...98,277,847
Ensembl chr 2:97,735,053...98,275,748
|
|
G |
CDH23 |
cadherin related 23 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 2A |
ClinVar |
PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 PMID:21940737 PMID:24033266 PMID:25741868 PMID:27460420 PMID:28492532 More...
|
|
NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834
|
|
G |
KCTD3 |
potassium channel tetramerization domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 2A |
ClinVar |
PMID:21681106 |
|
NCBI chr10:5,754,180...5,815,126
Ensembl chr10:5,754,156...5,815,086
|
|
G |
PDZD7 |
PDZ domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A |
OMIM ClinVar |
PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 PMID:29048736 More...
|
|
NCBI chr14:112,088,332...112,111,348
|
|
G |
SFTPC |
surfactant protein C |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 2A |
ClinVar |
PMID:25741868 |
|
NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095
|
|
G |
USH2A |
usherin |
susceptibility |
ISO |
ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A DNA:mutations:multiple (human) DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human) |
OMIM ClinVar RGD |
PMID:1968399 PMID:2525289 PMID:2564938 PMID:9536098 PMID:9624053 PMID:10090909 PMID:10729113 PMID:10738000 PMID:10775529 PMID:10909849 PMID:11311042 PMID:11402400 PMID:12112664 PMID:12427073 PMID:12525556 PMID:12786748 PMID:14676276 PMID:14970843 PMID:15015129 PMID:15025721 PMID:15043528 PMID:15241801 PMID:15325563 PMID:15326663 PMID:15671307 PMID:15823922 PMID:16098008 PMID:16114888 PMID:16199547 PMID:16963483 PMID:17085681 PMID:17296898 PMID:17405132 PMID:17576681 PMID:18273898 PMID:18281613 PMID:18452394 PMID:18463160 PMID:18484607 PMID:18641288 PMID:18665192 PMID:18665195 PMID:18723146 PMID:19023448 PMID:19129697 PMID:19683999 PMID:19737284 PMID:19788668 PMID:19881469 PMID:20052763 PMID:20145675 PMID:20301442 PMID:20301515 PMID:20309401 PMID:20440071 PMID:20497194 PMID:20507924 PMID:20513143 PMID:20544672 PMID:20591486 PMID:20596040 PMID:20613545 PMID:20801516 PMID:21147909 PMID:21151602 PMID:21228398 PMID:21487335 PMID:21569298 PMID:21593743 PMID:21681106 PMID:21686329 PMID:21738395 PMID:21909055 PMID:22004887 PMID:22009552 PMID:22025579 PMID:22135276 PMID:22334370 PMID:22563300 PMID:22581970 PMID:22681893 PMID:22952768 PMID:23029027 PMID:23352160 PMID:23591405 PMID:23661368 PMID:23661369 PMID:23737954 PMID:23755871 PMID:23767834 PMID:23804846 PMID:23924366 PMID:23940504 PMID:23967202 PMID:23991284 PMID:24033266 PMID:24043777 PMID:24088041 PMID:24154662 PMID:24160897 PMID:24164807 PMID:24227914 PMID:24265693 PMID:24367894 PMID:24498627 PMID:24516651 PMID:24603341 PMID:24607488 PMID:24618324 PMID:24625443 PMID:24853665 PMID:24875298 PMID:24901346 PMID:24938718 PMID:24944099 PMID:25078356 PMID:25097241 PMID:25133613 PMID:25133751 PMID:25211151 PMID:25252889 PMID:25261458 PMID:25262649 PMID:25268133 PMID:25324289 PMID:25326637 PMID:25333064 PMID:25342620 PMID:25356976 PMID:25366773 PMID:25373420 PMID:25375654 PMID:25388789 PMID:25404053 PMID:25412400 PMID:25425308 PMID:25445212 PMID:25468891 PMID:25472526 PMID:25474345 PMID:25521520 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25649381 PMID:25741868 PMID:25741913 PMID:25741915 PMID:25804404 PMID:25823529 PMID:25910913 PMID:25991456 PMID:25999674 PMID:26075083 PMID:26164827 PMID:26261414 PMID:26306921 PMID:26310143 PMID:26338283 PMID:26346818 PMID:26352687 PMID:26355662 PMID:26377068 PMID:26416264 PMID:26467025 PMID:26496393 PMID:26629787 PMID:26633545 PMID:26654877 PMID:26667666 PMID:26747767 PMID:26764160 PMID:26766544 PMID:26806561 PMID:26856745 PMID:26868535 PMID:26872967 PMID:26927203 PMID:26969326 PMID:26992781 PMID:27032803 PMID:27057829 PMID:27145477 PMID:27157150 PMID:27160483 PMID:27208204 PMID:27318125 PMID:27344577 PMID:27353947 PMID:27460420 PMID:27583663 PMID:27596865 PMID:27624628 PMID:27884173 PMID:27957503 PMID:28000701 PMID:28005958 PMID:28041643 PMID:28118666 PMID:28127548 PMID:28130426 PMID:28157192 PMID:28181551 PMID:28224992 PMID:28281779 PMID:28430325 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28653555 PMID:28678594 PMID:28704108 PMID:28714225 PMID:28761320 PMID:28798898 PMID:28838317 PMID:28894305 PMID:28912962 PMID:28944237 PMID:28945494 PMID:28981474 PMID:28984810 PMID:29068140 PMID:29074561 PMID:29099798 PMID:29142287 PMID:29151245 PMID:29178603 PMID:29196752 PMID:29276052 PMID:29283788 PMID:29293505 PMID:29343940 PMID:29490346 PMID:29551606 PMID:29588463 PMID:29625443 PMID:29641573 PMID:29655801 PMID:29767709 PMID:29899460 PMID:29912909 PMID:29953849 PMID:29986705 PMID:30029497 PMID:30073356 PMID:30081015 PMID:30190494 PMID:30245029 PMID:30280194 PMID:30311386 PMID:30337596 PMID:30358468 PMID:30390381 PMID:30459346 PMID:30543658 PMID:30691450 PMID:30718709 PMID:30733538 PMID:30796641 PMID:30826590 PMID:30870047 PMID:30872814 PMID:30902645 PMID:30924848 PMID:30948794 PMID:31031587 PMID:31047384 PMID:31054281 PMID:31106028 PMID:31144483 PMID:31152317 PMID:31213501 PMID:31231422 PMID:31266775 PMID:31370859 PMID:31429209 PMID:31456290 PMID:31541171 PMID:31589614 PMID:31674169 PMID:31699113 PMID:31736247 PMID:31816670 PMID:31817543 PMID:31827275 PMID:31836858 PMID:31872526 PMID:31877679 PMID:31904091 PMID:31960602 PMID:31998945 PMID:32036094 PMID:32037395 PMID:32050993 PMID:32090030 PMID:32093671 PMID:32098976 PMID:32100970 PMID:32176120 PMID:32188678 PMID:32319668 PMID:32467589 PMID:32531858 PMID:32552793 PMID:32579692 PMID:32581362 PMID:32637036 PMID:32646269 PMID:32675063 PMID:32707200 PMID:32747562 PMID:32767731 PMID:32893482 PMID:33089500 PMID:33090715 PMID:33105608 PMID:33111345 PMID:33111992 PMID:33124170 PMID:33269433 PMID:33297549 PMID:33576794 PMID:33623043 PMID:33629268 PMID:33691693 PMID:33749171 PMID:33781268 PMID:33926394 PMID:33946315 PMID:34008892 PMID:34031601 PMID:34130719 PMID:34148116 PMID:34203883 PMID:34203967 PMID:34327195 PMID:34416374 PMID:34426522 PMID:34448047 PMID:34599368 PMID:34638692 PMID:34721897 PMID:34781295 PMID:34837038 PMID:34906470 PMID:34948090 PMID:35076463 PMID:35106950 PMID:35114279 PMID:35266249 PMID:35672425 PMID:35802133 PMID:35836572 PMID:36011334 PMID:36284460 PMID:36314366 PMID:36362125 PMID:36460718 PMID:36633841 PMID:36785559 PMID:36819107 PMID:36909829 PMID:37322672 More...
|
RGD:8547961 RGD:8547987 |
NCBI chr10:5,825,591...6,662,733
|
|
|
G |
ADGRV1 |
adhesion G protein-coupled receptor V1 |
|
ISO |
ClinVar Annotator: match by term: ADGRV1-related condition | ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic |
OMIM ClinVar |
PMID:9536098 PMID:10234513 PMID:14740321 PMID:15671307 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18854872 PMID:19357116 PMID:19357117 PMID:20440071 PMID:21569298 PMID:21946352 PMID:22135276 PMID:22147658 PMID:22334370 PMID:22952768 PMID:23441107 PMID:23767834 PMID:23934111 PMID:23967202 PMID:24033266 PMID:24123792 PMID:24154662 PMID:24498627 PMID:25133751 PMID:25262649 PMID:25324289 PMID:25333064 PMID:25404053 PMID:25412400 PMID:25468891 PMID:25741868 PMID:25741869 PMID:25741909 PMID:26164827 PMID:26226137 PMID:26338283 PMID:26346818 PMID:26467025 PMID:26667666 PMID:26872967 PMID:26969326 PMID:27068579 PMID:27108799 PMID:27460420 PMID:27575413 PMID:27884173 PMID:28041643 PMID:28492532 PMID:29142287 PMID:29179779 PMID:29261713 PMID:29907799 PMID:30029497 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30718709 PMID:31046701 PMID:31047384 PMID:32037395 PMID:32420686 PMID:32467589 PMID:32707200 PMID:32747562 PMID:32860008 PMID:32962041 PMID:33089500 PMID:33105617 PMID:33247286 PMID:34997062 PMID:35802133 PMID:35813073 PMID:36633841 PMID:38177409 More...
|
|
NCBI chr 2:97,703,648...98,277,847
Ensembl chr 2:97,735,053...98,275,748
|
|
G |
CNKSR1 |
connector enhancer of kinase suppressor of Ras 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 2C |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:83,598,363...83,608,617
Ensembl chr 6:83,598,372...83,608,607
|
|
G |
FRAS1 |
Fraser extracellular matrix complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 2C |
ClinVar |
PMID:21900877 PMID:25741868 PMID:28492532 |
|
NCBI chr 8:73,502,368...73,959,454
Ensembl chr 8:73,502,717...73,957,375
|
|
G |
LOC110257071 |
gamma-crystallin C-like |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 2C |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr15:111,256,707...111,258,291
Ensembl chr15:111,256,725...111,258,277
|
|
G |
PDZD7 |
PDZ domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic |
OMIM ClinVar |
PMID:20440071 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26849169 PMID:28492532 PMID:32050993 More...
|
|
NCBI chr14:112,088,332...112,111,348
|
|
G |
SLC4A7 |
solute carrier family 4 member 7 |
|
ISO |
OMIM:605472 |
MouseDO |
|
|
NCBI chr13:13,933,552...14,043,108
Ensembl chr13:13,933,711...14,043,058
|
|
G |
WDR36 |
WD repeat domain 36 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 2C |
ClinVar |
PMID:15677485 PMID:18172102 PMID:19150991 PMID:22995991 PMID:25333069 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 2:115,835,099...115,907,643
Ensembl chr 2:115,861,811...115,906,304
|
|
|
G |
WHRN |
whirlin |
|
ISO |
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID | ClinVar Annotator: match by term: Usher syndrome type 2D |
OMIM ClinVar |
PMID:9536098 PMID:12833159 PMID:15841483 PMID:17171570 PMID:17576681 PMID:20352026 PMID:21569298 PMID:21654738 PMID:22135276 PMID:22147658 PMID:23804846 PMID:24033266 PMID:25262649 PMID:25404053 PMID:25468891 PMID:25741868 PMID:25741916 PMID:26467025 PMID:28492532 PMID:30245029 PMID:30311386 PMID:35114279 More...
|
|
NCBI chr 1:255,009,765...255,095,281
Ensembl chr 1:255,009,771...255,095,222
|
|
|
G |
CLRN1 |
clarin 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 3 |
ClinVar |
PMID:7407589 PMID:9536098 PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 PMID:15521980 PMID:16028794 PMID:17407589 PMID:17576681 PMID:17893653 PMID:18281613 PMID:19423712 PMID:19753315 PMID:20717163 PMID:21675857 PMID:22135276 PMID:22681893 PMID:22787034 PMID:22952768 PMID:23304067 PMID:24033266 PMID:24498627 PMID:24596593 PMID:25268133 PMID:25741868 PMID:25743179 PMID:26180195 PMID:26338283 PMID:27460420 PMID:27610647 PMID:28041643 PMID:28224992 PMID:28471114 PMID:28492532 PMID:29545425 PMID:30311386 PMID:31097578 PMID:31213501 PMID:31836858 PMID:31960602 PMID:31963381 PMID:34906470 PMID:35481838 More...
|
|
NCBI chr13:91,104,850...91,152,397
Ensembl chr13:91,106,207...91,148,031
|
|
G |
HARS1 |
histidyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:142,387,563...142,401,232
Ensembl chr 2:142,385,872...142,401,208
|
|
|
G |
CLRN1 |
clarin 1 |
|
ISO |
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA | ClinVar Annotator: match by term: Usher syndrome type 3A |
OMIM ClinVar |
PMID:7407589 PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 PMID:15521980 PMID:16028794 PMID:17407589 PMID:17893653 PMID:18281613 PMID:19423712 PMID:19753315 PMID:21310491 PMID:22135276 PMID:22681893 PMID:22787034 PMID:22952768 PMID:23304067 PMID:24033266 PMID:24498627 PMID:24596593 PMID:25268133 PMID:25741868 PMID:25743179 PMID:26180195 PMID:26338283 PMID:26467025 PMID:27460420 PMID:27610647 PMID:28041643 PMID:28224992 PMID:28471114 PMID:28492532 PMID:29545425 PMID:30311386 PMID:31097578 PMID:31213501 PMID:31836858 PMID:31960602 PMID:31963381 PMID:34906470 PMID:35481838 More...
|
|
NCBI chr13:91,104,850...91,152,397
Ensembl chr13:91,106,207...91,148,031
|
|
G |
USH2A |
usherin |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 3A |
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:28944237 PMID:29293505 PMID:30718709 PMID:31817543 PMID:34906470 More...
|
|
NCBI chr10:5,825,591...6,662,733
|
|
|
G |
DND1 |
DND microRNA-mediated repression inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 3B |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:142,384,526...142,387,407
Ensembl chr 2:142,384,532...142,387,199
|
|
G |
HARS1 |
histidyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 3B |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22279524 PMID:22279824 PMID:22930593 PMID:24033266 PMID:25640679 PMID:25741868 PMID:26072516 PMID:26752306 PMID:27353947 PMID:28492532 PMID:28632987 PMID:29235198 PMID:29790872 PMID:31028937 PMID:31211171 PMID:32333447 PMID:32543048 PMID:34445196 PMID:34813128 More...
|
|
NCBI chr 2:142,387,563...142,401,232
Ensembl chr 2:142,385,872...142,401,208
|
|
G |
HARS2 |
histidyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome type 3B |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:142,401,279...142,410,253
Ensembl chr 2:142,401,328...142,409,619
|
|
|
G |
ARSG |
arylsulfatase G |
|
ISO |
ClinVar Annotator: match by term: ARSG-related condition | ClinVar Annotator: match by term: Usher syndrome, type 4 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29300381 PMID:32455177 PMID:33300174 PMID:33629623 PMID:34223797 PMID:35226187 PMID:36317447 More...
|
|
NCBI chr12:11,751,930...11,882,844
Ensembl chr12:11,751,937...11,843,055
|
|
G |
PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
|
ISO |
ClinVar Annotator: match by term: ARSG-related condition | ClinVar Annotator: match by term: Usher syndrome, type 4 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33300174 PMID:35226187 PMID:36317447 |
|
NCBI chr12:11,662,344...11,681,490
Ensembl chr12:11,662,347...11,681,373
|
|
|
G |
ADGRV1 |
adhesion G protein-coupled receptor V1 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome, type 2B |
ClinVar |
PMID:14740321 PMID:15671307 PMID:19357117 PMID:22135276 PMID:22147658 PMID:24033266 PMID:25333064 PMID:25741868 PMID:26164827 PMID:26226137 PMID:26338283 PMID:27460420 PMID:27575413 PMID:28041643 PMID:28492532 PMID:30311386 PMID:30718709 PMID:31047384 PMID:32467589 More...
|
|
NCBI chr 2:97,703,648...98,277,847
Ensembl chr 2:97,735,053...98,275,748
|
|
G |
PDZD7 |
PDZ domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Usher syndrome, type 2B |
ClinVar |
PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 PMID:32050993 More...
|
|
NCBI chr14:112,088,332...112,111,348
|
|
|
G |
CDH23 |
cadherin related 23 |
|
ISO |
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC |
ClinVar |
PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:21940737 PMID:24033266 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834
|
|
G |
PCDH15 |
protocadherin related 15 |
|
ISO |
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC |
ClinVar |
PMID:15537665 PMID:15660226 PMID:24033266 |
|
NCBI chr14:95,530,168...96,388,032
|
|
|
G |
YAP1 |
Yes1 associated transcriptional regulator |
|
ISO |
ClinVar Annotator: match by term: Uveal coloboma-cleft lip and palate-intellectual disability | ClinVar Annotator: match by term: YAP1-related condition |
OMIM ClinVar |
PMID:4997531 PMID:24462371 PMID:25741868 PMID:28492532 |
|
NCBI chr 9:32,811,629...32,924,926
Ensembl chr 9:32,811,416...32,925,603
|
|
|
G |
GJB2 |
gap junction protein beta 2 |
|
ISO |
ClinVar Annotator: match by term: Keratoderma hereditarium mutilans | ClinVar Annotator: match by term: Mutilating keratoderma |
OMIM ClinVar |
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 PMID:2956987 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9326398 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID: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:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11918723 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12064630 PMID:12072059 PMID:12081719 PMID:12111646 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12548749 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12673800 PMID:12684873 PMID:12746422 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14643477 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15617546 PMID:15617550 PMID:15633193 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15769851 PMID:15790391 PMID:15832357 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16154643 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17330861 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17431919 PMID:17444514 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17576681 PMID:17581693 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18196482 PMID:18294064 PMID:18324688 PMID:18414213 PMID:18451998 PMID:18560174 PMID:18570691 PMID:18668259 PMID:18684989 PMID:18758381 PMID:18776652 PMID:18804553 PMID:18843290 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19465004 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19719946 PMID:19723508 PMID:19775242 PMID:19814620 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20101161 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20441744 PMID:20497192 PMID:20553101 PMID:20563649 PMID:20593197 PMID:20607074 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 PMID:20956747 PMID:20981092 PMID:21094084 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21298213 PMID:21298644 PMID:21366436 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21738759 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21836520 PMID:21844220 PMID:21910243 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22037723 PMID:22106692 PMID:22281373 PMID:22384008 PMID:22429511 PMID:22450542 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22574200 PMID:22592158 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23039283 PMID:23073770 PMID:23141775 PMID:23328711 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23695287 PMID:23757202 PMID:23797420 PMID:23804846 PMID:23826813 PMID:23873582 PMID:23900770 PMID:23924173 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 PMID:24507663 PMID:24529908 PMID:24551843 PMID:24611097 PMID:24645897 PMID:24654934 PMID:24737404 PMID:24762805 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25365227 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25575739 PMID:25587757 PMID:25625422 PMID:25628337 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25741895 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26482070 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27141831 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 PMID:27398341 PMID:27481527 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884957 PMID:28008688 PMID:28012523 PMID:28222800 PMID:28271504 PMID:28383030 PMID:28428247 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28651654 PMID:28704896 PMID:28900111 PMID:29062245 PMID:29106882 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29625052 PMID:29773520 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30068397 PMID:30086704 PMID:30094485 PMID:30146550 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30589569 PMID:30693673 PMID:30828346 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31195736 PMID:31346875 PMID:31370293 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31827275 PMID:31980526 PMID:31992338 PMID:32090102 PMID:32258544 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33187236 PMID:33333757 PMID:33524517 PMID:33597575 PMID:33614373 PMID:33928925 PMID:34062854 PMID:34335733 PMID:34440441 PMID:34515852 PMID:34652575 PMID:35016843 PMID:35396755 PMID:35864128 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 More...
|
|
NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
|
|
|
G |
CTBP1 |
C-terminal binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Wittwer syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:475,164...496,510
Ensembl chr 8:475,888...496,002
|
|
G |
FGFRL1 |
fibroblast growth factor receptor like 1 |
|
ISO |
ClinVar Annotator: match by term: Wittwer syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:365,367...378,384
Ensembl chr 8:365,181...378,375
|
|
G |
LETM1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Wittwer syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:898,178...926,500
Ensembl chr 8:898,181...926,593
|
|
G |
NSD2 |
nuclear receptor binding SET domain protein 2 |
|
ISO |
ClinVar Annotator: match by term: Wittwer syndrome |
ClinVar |
PMID:11252005 PMID:25741868 PMID:28492532 PMID:29760529 PMID:29892088 PMID:30345613 More...
|
|
NCBI chr 8:938,832...1,018,032
Ensembl chr 8:964,893...1,018,028
|
|
G |
NUF2 |
NUF2 component of NDC80 kinetochore complex |
|
ISO |
ClinVar Annotator: match by term: Wittwer syndrome |
ClinVar |
|
|
NCBI chr 4:87,162,873...87,194,193
Ensembl chr 4:87,162,818...87,194,170
|
|
|
G |
MT-ND1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
|
ISO |
DNA:snp:cds:m.4216T>C (human) |
RGD |
PMID:9309689 |
RGD:5490247 |
NCBI chr MT:3,922...4,876
Ensembl chr MT:3,922...4,876
|
|
G |
WFS1 |
wolframin ER transmembrane glycoprotein |
|
ISO |
ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness | ClinVar Annotator: match by term: Wolfram syndrome |
ClinVar |
PMID:1161832 PMID:10521293 PMID:11244483 PMID:12754709 PMID:12955714 PMID:15151504 PMID:15277431 PMID:16806192 PMID:17568405 PMID:17603484 PMID:18060660 PMID:19344068 PMID:20301750 PMID:20738327 PMID:21446023 PMID:21602428 PMID:22226368 PMID:22238590 PMID:23429432 PMID:23596069 PMID:24033266 PMID:24890733 PMID:25133958 PMID:25741868 PMID:26435059 PMID:26875006 PMID:27395765 PMID:28432734 PMID:28492532 PMID:29207974 PMID:30014265 PMID:30773290 PMID:30957632 PMID:31567480 PMID:32141364 PMID:33763535 PMID:33879153 PMID:34404380 More...
|
|
NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273
|
|
|
G |
WFS1 |
wolframin ER transmembrane glycoprotein |
|
ISO |
ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1 |
OMIM ClinVar |
PMID:1161832 PMID:3387915 PMID:8808601 PMID:9536098 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10624825 PMID:10679252 PMID:10760554 PMID:11161832 PMID:11244483 PMID:11260218 PMID:11295831 PMID:11317350 PMID:11694551 PMID:11709537 PMID:11709538 PMID:11811080 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12565131 PMID:12754709 PMID:12782971 PMID:12913071 PMID:12955714 PMID:15008830 PMID:15151504 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:15852062 PMID:15912360 PMID:16151413 PMID:16195229 PMID:16199547 PMID:16648378 PMID:16806192 PMID:17492394 PMID:17517145 PMID:17568405 PMID:17576681 PMID:17603484 PMID:18040659 PMID:18060660 PMID:18414213 PMID:18544103 PMID:18660851 PMID:18688868 PMID:18806274 PMID:19042979 PMID:19292454 PMID:19344068 PMID:19877185 PMID:20028947 PMID:20160352 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21127832 PMID:21143470 PMID:21446023 PMID:21454619 PMID:21538838 PMID:21602428 PMID:21917145 PMID:22226368 PMID:22238590 PMID:22662265 PMID:22797899 PMID:22938506 PMID:23257691 PMID:23373429 PMID:23429432 PMID:23535966 PMID:23595122 PMID:23596069 PMID:23845777 PMID:23856252 PMID:23981289 PMID:23990876 PMID:24033266 PMID:24088041 PMID:24117146 PMID:24227685 PMID:24424032 PMID:24497219 PMID:24890733 PMID:24909696 PMID:25133958 PMID:25173644 PMID:25211237 PMID:25250959 PMID:25262649 PMID:25388789 PMID:25392243 PMID:25497598 PMID:25714468 PMID:25741868 PMID:25842391 PMID:25895475 PMID:26025012 PMID:26284228 PMID:26346818 PMID:26435059 PMID:26467025 PMID:26633545 PMID:26773575 PMID:26875006 PMID:26969326 PMID:27068579 PMID:27167055 PMID:27185633 PMID:27395765 PMID:27434582 PMID:27468121 PMID:27617222 PMID:27911912 PMID:27959697 PMID:28432734 PMID:28468959 PMID:28492532 PMID:28502252 PMID:28559085 PMID:28802351 PMID:28870582 PMID:28993341 PMID:29048421 PMID:29183106 PMID:29207974 PMID:29447883 PMID:29529044 PMID:29563951 PMID:29632382 PMID:30014265 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30773290 PMID:30957632 PMID:31264968 PMID:31266054 PMID:31313226 PMID:31343797 PMID:31363008 PMID:31391115 PMID:31521625 PMID:31567480 PMID:31600780 PMID:31604968 PMID:31759989 PMID:31765440 PMID:31850070 PMID:31980526 PMID:32141364 PMID:32179840 PMID:32350710 PMID:32382995 PMID:32567228 PMID:32883240 PMID:32938580 PMID:33046911 PMID:33116287 PMID:33538814 PMID:33763535 PMID:33841295 PMID:33879153 PMID:33980734 PMID:34258273 PMID:34356170 PMID:34404380 PMID:34445196 PMID:34556497 PMID:34737607 PMID:34746052 PMID:34789499 PMID:34803393 PMID:34970515 PMID:35206658 PMID:35452662 PMID:35602877 PMID:36208030 PMID:36597107 PMID:36729443 More...
|
|
NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273
|
|
|
G |
CISD2 |
CDGSH iron sulfur domain 2 |
|
ISO |
ClinVar Annotator: match by term: Wolfram syndrome 2 |
OMIM ClinVar |
PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:25056293 PMID:25371195 PMID:25741868 PMID:28492532 PMID:29237418 More...
|
|
NCBI chr 8:118,152,580...118,164,695
Ensembl chr 8:118,152,227...118,164,689
|
|
G |
CISD3 |
CDGSH iron sulfur domain 3 |
|
ISO |
ClinVar Annotator: match by term: Wolfram syndrome 2 |
ClinVar |
PMID:25741909 |
|
NCBI chr12:23,375,998...23,379,587
Ensembl chr12:23,376,002...23,379,584
|
|
G |
PCGF2 |
polycomb group ring finger 2 |
|
ISO |
ClinVar Annotator: match by term: Wolfram syndrome 2 |
ClinVar |
PMID:25741909 |
|
NCBI chr12:23,362,631...23,375,779
Ensembl chr12:23,362,654...23,375,775
|
|
G |
SLC9B1 |
solute carrier family 9 member B1 |
|
ISO |
ClinVar Annotator: match by term: Wolfram syndrome 2 |
ClinVar |
PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532 |
|
NCBI chr 8:118,052,091...118,134,685
Ensembl chr 8:118,052,500...118,155,396
|
|
|
G |
ATG4A |
autophagy related 4A cysteine peptidase |
|
ISO |
ClinVar Annotator: match by term: X-linked Alport syndrome |
ClinVar |
|
|
NCBI chr X:88,545,924...88,633,328
Ensembl chr X:88,548,751...88,633,321
|
|
G |
COL4A4 |
collagen type IV alpha 4 chain |
|
ISO |
ClinVar Annotator: match by term: X-linked Alport syndrome |
ClinVar |
PMID:12028435 PMID:17396119 PMID:19129241 PMID:19675380 PMID:20029656 PMID:24033266 PMID:25514610 PMID:25741868 PMID:25755845 PMID:26467025 PMID:28492532 More...
|
|
NCBI chr15:128,472,228...128,612,302
Ensembl chr15:128,476,257...128,595,477
|
|
G |
COL4A5 |
collagen type IV alpha 5 chain |
|
ISO |
ClinVar Annotator: match by term: COL4A5-related condition | ClinVar Annotator: match by term: X-linked Alport syndrome |
OMIM ClinVar |
PMID:1330889 PMID:1352287 PMID:1363780 PMID:1376965 PMID:1577459 PMID:1598909 PMID:1635357 PMID:1672282 PMID:1783380 PMID:2349482 PMID:6650503 PMID:7485125 PMID:7599631 PMID:7695699 PMID:7969679 PMID:8218237 PMID:8406498 PMID:8433568 PMID:8455372 PMID:8648925 PMID:8651292 PMID:8651296 PMID:8738805 PMID:8807602 PMID:8825605 PMID:8887300 PMID:8940267 PMID:9150741 PMID:9195222 PMID:9452056 PMID:9536098 PMID:9848783 PMID:10094548 PMID:10561141 PMID:10684360 PMID:10752524 PMID:10862091 PMID:11223851 PMID:11462238 PMID:11572889 PMID:12028435 PMID:12105244 PMID:12796257 PMID:13582260 PMID:14514738 PMID:14604828 PMID:14856448 PMID:14993485 PMID:15044104 PMID:15780079 PMID:15954103 PMID:15957001 PMID:16199547 PMID:16941480 PMID:17277342 PMID:17396119 PMID:17576681 PMID:17660027 PMID:18083113 PMID:18343956 PMID:19019929 PMID:19344236 PMID:19728970 PMID:19919694 PMID:19965530 PMID:20130921 PMID:20301386 PMID:20378821 PMID:20881942 PMID:20884774 PMID:21332469 PMID:21505094 PMID:21688191 PMID:21848006 PMID:22921432 PMID:22995991 PMID:23144074 PMID:23371956 PMID:23572034 PMID:23720012 PMID:23967202 PMID:24033266 PMID:24033287 PMID:24046192 PMID:24077912 PMID:24088041 PMID:24130771 PMID:24304881 PMID:24470729 PMID:24472419 PMID:24522658 PMID:24759409 PMID:24854265 PMID:25183659 PMID:25525159 PMID:25572247 PMID:25575550 PMID:25644381 PMID:25739341 PMID:25741868 PMID:25741911 PMID:25788563 PMID:25876686 PMID:26063487 PMID:26467025 PMID:26613025 PMID:26633545 PMID:26809805 PMID:26934356 PMID:27281700 PMID:27353043 PMID:27627812 PMID:27725732 PMID:28492532 PMID:28542346 PMID:28780565 PMID:28827396 PMID:28844315 PMID:28864840 PMID:29098738 PMID:29127259 PMID:29142990 PMID:29144512 PMID:29198386 PMID:29204651 PMID:29270492 PMID:29526710 PMID:29801666 PMID:29854973 PMID:29959198 PMID:30128941 PMID:30295827 PMID:30311386 PMID:30348286 PMID:30477285 PMID:30577881 PMID:30586318 PMID:30647093 PMID:30655312 PMID:30661074 PMID:30691124 PMID:30773290 PMID:30919572 PMID:31027891 PMID:31096494 PMID:31138263 PMID:31144478 PMID:31576025 PMID:31850286 PMID:32359821 PMID:32405592 PMID:32604935 PMID:32659759 PMID:32939031 PMID:33040356 PMID:33226606 PMID:33233744 PMID:33309955 PMID:33330536 PMID:33369211 PMID:33532864 PMID:33633790 PMID:33854215 PMID:34008892 PMID:34215756 PMID:34400539 PMID:34440452 PMID:35005319 PMID:35022790 PMID:35580552 PMID:35643372 PMID:35802133 PMID:36633841 More...
|
|
NCBI chr X:88,958,837...89,183,306
Ensembl chr X:88,958,849...89,183,372
|
|
G |
COL4A6 |
collagen type IV alpha 6 chain |
|
ISO |
ClinVar Annotator: match by term: X-linked Alport syndrome |
ClinVar |
|
|
NCBI chr X:88,634,925...88,750,938
Ensembl chr X:88,634,930...88,957,416
|
|
G |
FN1 |
fibronectin 1 |
|
ISO |
ClinVar Annotator: match by term: X-linked Alport syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,014
|
|
G |
MSR1 |
macrophage scavenger receptor 1 |
|
ISO |
ClinVar Annotator: match by term: X-linked Alport syndrome |
ClinVar |
PMID:12244320 PMID:12958598 PMID:21791690 PMID:24082139 PMID:25333069 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr17:3,859,903...3,939,612
Ensembl chr17:3,859,692...3,939,726
|
|
G |
ZC3H12C |
zinc finger CCCH-type containing 12C |
|
ISO |
ClinVar Annotator: match by term: X-linked Alport syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:38,133,440...38,209,365
Ensembl chr 9:38,138,004...38,207,027
|
|
|
G |
PRPS1 |
phosphoribosyl pyrophosphate synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL | ClinVar Annotator: match by term: Deafness, X-linked 1 |
OMIM ClinVar |
PMID:8968763 PMID:10503584 PMID:15240907 PMID:17701900 PMID:20021999 PMID:20301731 PMID:24033266 PMID:24528855 PMID:25182139 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr X:88,074,861...88,101,925
Ensembl chr X:88,074,965...88,101,910
|
|
|
G |
GJB2 |
gap junction protein beta 2 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear |
ClinVar |
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9819448 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:10713883 PMID:10751669 PMID:10782932 PMID:10807696 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11918723 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12064630 PMID:12072059 PMID:12081719 PMID:12111646 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12384781 PMID:12417772 PMID:12457154 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12673800 PMID:12684873 PMID:12746422 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14643477 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14738110 PMID:14985372 PMID:14986832 PMID:15040442 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15482471 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15617546 PMID:15617550 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15790391 PMID:15832357 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:16076412 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:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17431919 PMID:17444514 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17576681 PMID:17581693 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18196482 PMID:18294064 PMID:18324688 PMID:18414213 PMID:18451998 PMID:18560174 PMID:18570691 PMID:18668259 PMID:18684989 PMID:18776652 PMID:18804553 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19465004 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19719946 PMID:19723508 PMID:19775242 PMID:19814620 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20441744 PMID:20497192 PMID:20553101 PMID:20563649 PMID:20593197 PMID:20607074 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 PMID:20956747 PMID:20981092 PMID:21094084 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21298213 PMID:21298644 PMID:21366436 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21836520 PMID:21844220 PMID:21910243 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22037723 PMID:22106692 PMID:22281373 PMID:22384008 PMID:22429511 PMID:22450542 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22574200 PMID:22592158 PMID:22613756 PMID:22643125 PMID:22695344 PMID:22701767 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23039283 PMID:23073770 PMID:23141775 PMID:23328711 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23695287 PMID:23757202 PMID:23826813 PMID:23873582 PMID:23900770 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 PMID:24507663 PMID:24529908 PMID:24551843 PMID:24645897 PMID:24654934 PMID:24737404 PMID:24762805 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25587757 PMID:25625422 PMID:25628337 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25741895 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25937001 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 PMID:27398341 PMID:27481527 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:28008688 PMID:28012523 PMID:28222800 PMID:28271504 PMID:28383030 PMID:28428247 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28590052 PMID:28651654 PMID:28704896 PMID:28900111 PMID:29062245 PMID:29106882 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29625052 PMID:29773520 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30086704 PMID:30094485 PMID:30146550 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30589569 PMID:30693673 PMID:30828346 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31195736 PMID:31346875 PMID:31370293 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31827275 PMID:31980526 PMID:31992338 PMID:32090102 PMID:32747562 PMID:33096615 PMID:33187236 PMID:33333757 PMID:33524517 PMID:33597575 PMID:33614373 PMID:33928925 PMID:34062854 PMID:34335733 PMID:34440441 PMID:34515852 PMID:34652575 PMID:35016843 PMID:35396755 PMID:35864128 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 More...
|
|
NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
|
|
G |
GJB6 |
gap junction protein beta 6 |
|
ISO |
ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear |
ClinVar |
PMID:10730756 PMID:11017065 PMID:12419304 PMID:12788524 PMID:14708603 PMID:15213106 PMID:15769851 PMID:17160938 PMID:20536673 PMID:22106692 PMID:23219093 PMID:23863883 PMID:23926005 PMID:23981984 PMID:24033266 PMID:24052723 PMID:24514865 PMID:24522190 PMID:24685692 PMID:25741868 PMID:26551294 PMID:27068579 PMID:27137747 PMID:27817781 PMID:28492532 PMID:30620052 PMID:31015822 More...
|
|
NCBI chr11:793,276...800,109
Ensembl chr11:793,280...800,046
|
|
G |
POU3F4 |
POU class 3 homeobox 4 |
|
ISO |
ClinVar Annotator: match by term: Deafness, X-linked 2 | ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear |
OMIM ClinVar |
PMID:1783396 PMID:6662621 PMID:7581392 PMID:7839145 PMID:9298820 PMID:19671658 PMID:19930154 PMID:23076972 PMID:23606368 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29287890 PMID:30176854 PMID:31690835 PMID:31786483 PMID:35189936 PMID:35802133 PMID:36633841 More...
|
|
NCBI chr X:66,765,044...66,766,642
Ensembl chr X:66,765,105...66,766,190
|
|
|
G |
SMPX |
small muscle protein X-linked |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, X-LINKED 6, PROGRESSIVE | ClinVar Annotator: match by term: Deafness, X-linked 4 |
OMIM ClinVar |
PMID:8872482 PMID:21549336 PMID:21549342 PMID:22911656 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr X:17,889,030...17,938,206
Ensembl chr X:17,889,030...17,938,293
|
|
|
G |
AIFM1 |
apoptosis inducing factor mitochondria associated 1 |
|
ISO |
ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5 |
OMIM ClinVar |
PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270 |
|
NCBI chr X:106,676,596...106,708,290
Ensembl chr X:106,670,520...106,708,317
|
|
G |
RAB33A |
RAB33A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5 |
ClinVar |
PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270 |
|
NCBI chr X:106,708,402...106,723,803
Ensembl chr X:106,712,398...106,723,404
|
|
|
G |
COL4A6 |
collagen type IV alpha 6 chain |
|
ISO |
ClinVar Annotator: match by term: COL4A6-related condition | ClinVar Annotator: match by term: Deafness, X-linked 6 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:23714752 PMID:25741868 PMID:26467025 PMID:28492532 PMID:33840813 More...
|
|
NCBI chr X:88,634,925...88,750,938
Ensembl chr X:88,634,930...88,957,416
|
|
|
G |
GPRASP2 |
G protein-coupled receptor associated sorting protein 2 |
|
ISO |
ClinVar Annotator: match by term: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome |
OMIM ClinVar |
PMID:25741868 |
|
NCBI chr X:83,811,733...83,892,476
Ensembl chr X:83,803,177...83,892,475
|
|
|
G |
RBMX |
RNA binding motif protein X-linked |
|
ISO |
ClinVar Annotator: match by term: Mental retardation Gustavson type, X-linked |
OMIM ClinVar |
PMID:25741905 |
|
NCBI chr X:111,965,859...111,974,544
Ensembl chr X:111,962,633...111,974,472
|
|
|
G |
ATRX |
ATRX chromatin remodeler |
|
ISO |
ClinVar Annotator: match by term: Carpenter-Waziri syndrome | ClinVar Annotator: match by term: HOLMES-GANG SYNDROME | ClinVar Annotator: match by term: Intellectual disability-hypotonic facies syndrome, X-linked | ClinVar Annotator: match by term: Mental retardation-hypotonic facies syndrome X-linked, 1 | ClinVar Annotator: match by term: Smith Fineman Myers syndrome 1 |
OMIM ClinVar |
PMID:3239563 PMID:6682021 PMID:6711605 PMID:7697714 PMID:8630485 PMID:8968741 PMID:9244431 PMID:9326931 PMID:10398234 PMID:10398237 PMID:10632111 PMID:10995512 PMID:11050622 PMID:12116232 PMID:15508018 PMID:15591283 PMID:16125058 PMID:16813605 PMID:16955409 PMID:18409179 PMID:18414213 PMID:20500465 PMID:21267006 PMID:23681356 PMID:24289169 PMID:24327140 PMID:24690944 PMID:24728327 PMID:24805811 PMID:25167861 PMID:25326635 PMID:25326637 PMID:25590979 PMID:25741868 PMID:25936994 PMID:26350204 PMID:26467025 PMID:28027854 PMID:28293299 PMID:28371217 PMID:28492532 PMID:29706636 PMID:31130284 PMID:32595695 PMID:32712949 PMID:35709690 PMID:36292677 More...
|
|
NCBI chr X:61,584,028...61,872,341
Ensembl chr X:61,584,848...61,872,287
|
|
G |
EPOR |
erythropoietin receptor |
|
ISO |
ClinVar Annotator: match by term: Carpenter-Waziri syndrome |
ClinVar |
PMID:8174675 PMID:9394420 PMID:25741868 PMID:28492532 |
|
NCBI chr 2:70,063,601...70,068,821
Ensembl chr 2:70,063,519...70,068,821
|
|
G |
HUWE1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter-Waziri syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr X:46,281,958...46,444,315
Ensembl chr X:46,281,967...46,444,228
|
|
|
G |
SMPX |
small muscle protein X-linked |
|
ISO |
ClinVar Annotator: match by term: X-linked deafness |
ClinVar |
|
|
NCBI chr X:17,889,030...17,938,206
Ensembl chr X:17,889,030...17,938,293
|
|
|
G |
RPGR |
retinitis pigmentosa GTPase regulator |
|
ISO |
ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness |
OMIM ClinVar |
PMID:1733835 PMID:8673101 PMID:10094550 PMID:14627685 PMID:16055928 PMID:25741868 More...
|
|
NCBI chr X:34,238,961...34,522,814
Ensembl chr X:34,228,124...34,296,589
|
|