Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Hearing Loss
go back to main search page
Accession:DOID:9004538 term browser browse the term
Definition:A general term for the complete or partial loss of the ability to hear from one or both ears.
Synonyms:exact_synonym: Hearing Impairment;   Hypoacuses;   Hypoacusis
 narrow_synonym: Hereditary Hearing Loss And Deafness;   NONSYNDROMIC HEARING LOSS, DOMINANT;   NONSYNDROMIC HEARING LOSS, MIXED;   NONSYNDROMIC HEARING LOSS, RECESSIVE;   NONSYNDROMIC HEARING LOSS, X-LINKED
 primary_id: MESH:D034381;   RDO:0000324
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar NCBI chr21:25,971,680...25,975,556
Ensembl chr21:25,972,458...25,975,558
JBrowse link
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:19738398 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
JBrowse link
G ARC activity regulated cytoskeleton associated protein treatment ISO mRNA:decreased expression:auditory cortex: RGD PMID:18524887 PMID:18607918 RGD:8655535 RGD:8655538 NCBI chr13:36,743,027...36,744,266 JBrowse link
G ATOH1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Hearing loss ClinVar PMID:25741868 NCBI chr32:16,807,217...16,809,294
Ensembl chr32:16,807,336...16,808,406
JBrowse link
G BARHL1 BarH like homeobox 1 ISO RGD PMID:12091321 RGD:14390166 NCBI chr 9:51,704,590...51,711,726
Ensembl chr 9:51,703,936...51,712,093
JBrowse link
G BCL2L1 BCL2 like 1 ISO CTD Direct Evidence: therapeutic CTD PMID:17697574 NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355
JBrowse link
G BDNF brain derived neurotrophic factor ISO mRNA:increased expression:cochlea: RGD PMID:18524887 RGD:8655535 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
JBrowse link
G BMP2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30872814 NCBI chr24:15,199,667...15,211,509
Ensembl chr24:15,200,291...15,212,217
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:17275231 RGD:8698665 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
JBrowse link
G C4H10orf105 chromosome 4 C10orf105 homolog ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar NCBI chr 4:22,472,365...22,478,931 JBrowse link
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27798183 NCBI chr20:38,859,047...38,995,239
Ensembl chr20:38,883,530...38,993,273
JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Hearing loss
ClinVar PMID:18429043 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:18414213 PMID:25741868 NCBI chr29:11,115,865...11,284,713
Ensembl chr29:11,156,340...11,283,627
JBrowse link
G CHSY1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30872814 NCBI chr 3:39,844,227...39,916,484
Ensembl chr 3:39,844,195...40,021,573
JBrowse link
G CLCC1 chloride channel CLIC like 1 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar NCBI chr 6:42,807,432...42,829,317
Ensembl chr 6:42,807,064...42,829,273
JBrowse link
G CLDN14 claudin 14 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:11163249 PMID:15880785 PMID:22246673 NCBI chr31:31,677,410...31,725,794
Ensembl chr31:31,677,733...31,678,446
JBrowse link
G CLDN9 claudin 9 ISO ClinVar Annotator: match by term: Hearing loss ClinVar PMID:25741868 PMID:31175426 NCBI chr 6:38,172,035...38,174,089
Ensembl chr 6:38,172,550...38,173,203
JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814
JBrowse link
G COL4A3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Hereditary hearing loss and deafness ClinVar NCBI chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782
JBrowse link
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:28632965 NCBI chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189
JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 NCBI chr  X:81,982,119...82,248,428
Ensembl chr  X:81,982,275...82,247,679
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO mRNA, protein:altered expression:cochlea RGD PMID:24781382 RGD:9491762 NCBI chr 2:59,022,794...59,032,095
Ensembl chr 2:59,022,794...59,032,095
JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO mRNA, protein:increased expression:cochlea RGD PMID:24781382 RGD:9491762 NCBI chr23:8,937,069...8,954,738
Ensembl chr23:8,938,906...8,952,808
JBrowse link
G DIAPH1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed
ClinVar Annotator: match by term: Hearing impairment
ClinVar PMID:24033266 PMID:25741868 PMID:32581362 NCBI chr 2:36,483,781...36,581,390
Ensembl chr 2:36,485,571...36,581,320
JBrowse link
G DIAPH3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 NCBI chr22:15,573,485...16,078,580
Ensembl chr22:15,573,629...16,079,031
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532572 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
JBrowse link
G DSPP dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 NCBI chr32:11,017,440...11,022,780 JBrowse link
G EDNRB endothelin receptor type B ISO ClinVar Annotator: match by term: Hypoacusis ClinVar PMID:16944573 PMID:18162831 PMID:25741868 NCBI chr22:31,415,324...31,438,772
Ensembl chr22:31,417,308...31,437,587
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25440059 NCBI chr28:1,358,383...1,432,276
Ensembl chr28:1,361,107...1,427,162
JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:18317592 RGD:8553063 NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691
JBrowse link
G ESRRB estrogen related receptor beta ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar NCBI chr 8:49,253,877...49,424,148
Ensembl chr 8:49,253,332...49,421,332
JBrowse link
G FOXI1 forkhead box I1 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed ClinVar NCBI chr 4:41,760,899...41,764,887
Ensembl chr 4:41,761,016...41,764,836
JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 ISO ClinVar Annotator: match by term: Hypoacusis ClinVar PMID:14561495 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 PMID:19500985 PMID:20232219 PMID:25231362 PMID:25741868 PMID:28492532 NCBI chr29:22,805,468...22,835,909
Ensembl chr29:22,804,965...22,833,069
JBrowse link
G GJA1 gap junction protein alpha 1 no_association ISO DNA:polymorphisms RGD PMID:12791041 RGD:8662384 NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
JBrowse link
G GJB2 gap junction protein beta 2 ISO DNA:dels,polymorphism:cds:c.235delC,c.35delG,c.585G>C(human)
ClinVar Annotator: match by term: Hypoacusis
ClinVar Annotator: match by term: Hearing loss
ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
DNA:mutation:cds:p.V37I(human)
DNA:deletion: :c.35delG(human)
RGD
ClinVar
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:9600457 PMID:9620796 PMID:9716127 PMID:9819448 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID:10369869 PMID:10376574 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:11313751 PMID:11313763 PMID:11386851 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11556849 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: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:12786758 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12865758 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14520102 PMID:14681040 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14738110 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15040442 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15146674 PMID:15150777 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15479191 PMID:15482471 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:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16931589 PMID:16950989 PMID:16952406 PMID:17018967 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17253936 PMID:17330861 PMID:17331080 PMID:17357124 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17581693 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18196482 PMID:18294064 PMID:18324688 PMID:18414213 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:19586875 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:20096468 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:20601923 PMID:20639189 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 PMID:20937258 PMID:20981092 PMID:21040787 PMID:21056478 PMID:21094084 PMID:21112098 PMID:21122151 PMID:21162657 PMID:21198395 PMID:21287563 PMID:21298644 PMID:21366436 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21510145 PMID:21728791 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21815880 PMID:21868108 PMID:21910243 PMID:21912263 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22037723 PMID:22106692 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:22937313 PMID:22975760 PMID:22981120 PMID:22995991 PMID:23039283 PMID:23120683 PMID:23141775 PMID:23418865 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23554706 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23668481 PMID:23680645 PMID:23757202 PMID:23804846 PMID:23808595 PMID:23826813 PMID:23856378 PMID:23873582 PMID:23900770 PMID:23967136 PMID:24013081 PMID:24022696 PMID:24033266 PMID:24123366 PMID:24158611 PMID:24256046 PMID:24346070 PMID:24503448 PMID:24529908 PMID:24611097 PMID:24624091 PMID:24645897 PMID:24654934 PMID:24737404 PMID:24793888 PMID:24814571 PMID:24840842 PMID:24945352 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25162826 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25388846 PMID:25401782 PMID:25555641 PMID:25587757 PMID:25625422 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25808784 PMID:25937001 PMID:25999548 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26346709 PMID:26381000 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26467025 PMID:26482070 PMID:26553399 PMID:26561413 PMID:26681637 PMID:26749107 PMID:26778469 PMID:26832775 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27045574 PMID:27057829 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27466889 PMID:27480936 PMID:27481527 PMID:27501294 PMID:27534436 PMID:27623246 PMID:27785406 PMID:27792752 PMID:27843504 PMID:27884957 PMID:28000701 PMID:28271504 PMID:28489599 PMID:28492532 PMID:29106882 PMID:29140768 PMID:29362677 PMID:29501291 PMID:29921236 PMID:30094485 PMID:30168495 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:32090102 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 RGD:7364794 RGD:7364810 RGD:7364886 RGD:7364893 NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
JBrowse link
G GJB6 gap junction protein beta 6 ISO p.T5M(human) RGD PMID:12490528 PMID:19173109 PMID:20858605 RGD:7364893 RGD:7364895 RGD:7364899 NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605
JBrowse link
G GPSM2 G protein signaling modulator 2 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar NCBI chr 6:42,828,611...42,878,334
Ensembl chr 6:42,824,455...42,868,690
JBrowse link
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 PMID:28492532 NCBI chr13:39,766,910...39,882,076
Ensembl chr13:39,766,919...39,882,086
JBrowse link
G GSDME gasdermin E ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed
CTD
ClinVar
PMID:21782914 NCBI chr14:38,210,975...38,286,729
Ensembl chr14:38,211,540...38,292,280
JBrowse link
G HGF hepatocyte growth factor ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed RGD
ClinVar
PMID:14630698 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 RGD:8548550 NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263
JBrowse link
G IL10 interleukin 10 treatment ISO associated with Autoimmune Diseases
associated with Meningitis, Pneumococcal
RGD PMID:21697956 PMID:22644021 RGD:7364829 RGD:7364842 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Hereditary hearing loss and deafness ClinVar NCBI chr31:29,858,428...29,868,315 JBrowse link
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:26467025 PMID:27171548 PMID:28492532 NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813
JBrowse link
G LHFPL5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar NCBI chr12:4,919,732...4,936,823
Ensembl chr12:4,902,832...4,936,413
JBrowse link
G LMX1A LIM homeobox transcription factor 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29971487 NCBI chr38:17,958,366...18,111,155
Ensembl chr38:17,956,961...18,109,049
JBrowse link
G LOC106560171 transmembrane O-methyltransferase ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:26467025 NCBI chr21:25,975,547...25,981,097 JBrowse link
G LOXHD1 lipoxygenase homology domains 1 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:44,662,800...44,828,405
Ensembl chr 7:44,663,182...44,826,858
JBrowse link
G MANBA mannosidase beta ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:9384606 PMID:18565776 PMID:30872814 NCBI chr32:24,052,078...24,167,565
Ensembl chr32:24,038,920...24,167,535
JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30872814 NCBI chr 2:43,918,210...43,996,817
Ensembl chr 2:43,917,604...43,995,209
JBrowse link
G MARVELD2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 NCBI chr 2:54,438,046...54,458,890
Ensembl chr 2:54,441,797...54,457,515
JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Hypoacusis 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:27929079 PMID:28492532 PMID:32581362 NCBI chr  X:121,866,721...121,876,088
Ensembl chr  X:121,873,218...121,932,994
JBrowse link
G MIR96 microRNA mir-96 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19363478 PMID:19363479 NCBI chr14:7,068,754...7,068,842
Ensembl chr14:7,068,754...7,068,842
JBrowse link
G MITF melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:8659547 PMID:9856573 PMID:25741868 NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578
JBrowse link
G MSRB3 methionine sulfoxide reductase B3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hearing loss
CTD
ClinVar
PMID:21782914 PMID:24033266 NCBI chr10:7,892,745...8,040,196
Ensembl chr10:7,892,640...8,038,043
JBrowse link
G MT-CYB mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28027978 NCBI chr MT:14,183...15,322
Ensembl chr MT:14,183...15,322
JBrowse link
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:10,201...11,578
Ensembl chr MT:10,201...11,578
JBrowse link
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:11,778...13,598
Ensembl chr MT:11,778...13,598
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T(human) RGD PMID:21385350 RGD:7387225 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:SNP::2756A>G(human) RGD PMID:21385350 RGD:7387225 NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115
JBrowse link
G MYH14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 NCBI chr 1:106,371,952...106,460,388
Ensembl chr 1:106,371,939...106,458,901
JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30872814 NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953
JBrowse link
G MYO15A myosin XVA ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar NCBI chr 5:41,369,484...41,421,303
Ensembl chr 5:41,370,509...41,392,881
JBrowse link
G MYO3A myosin IIIA ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar NCBI chr 2:7,455,125...7,695,483
Ensembl chr 2:7,455,625...7,696,043
JBrowse link
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:25741868 NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724
JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing loss
ClinVar Annotator: match by term: Hearing impairment
ClinVar PMID:21436283 PMID:23208854 PMID:24033266 PMID:25741868 PMID:26486028 PMID:26969326 PMID:27160483 PMID:28492532 PMID:30872814 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 NCBI chr  X:120,720,118...120,754,573
Ensembl chr  X:120,720,183...120,754,143
JBrowse link
G NTF3 neurotrophin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:18024279 NCBI chr27:39,383,017...39,454,613
Ensembl chr27:39,383,152...39,454,601
JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar NCBI chr21:26,000,579...26,076,281
Ensembl chr21:26,037,095...26,075,549
JBrowse link
G OTOA otoancorin ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 NCBI chr 6:23,106,650...23,175,159
Ensembl chr 6:23,106,804...23,168,380
JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar PMID:25741868 PMID:28492532 NCBI chr17:20,518,480...20,619,713
Ensembl chr17:20,518,813...20,614,750
JBrowse link
G OTOG otogelin ISO ClinVar Annotator: match by term: Hearing loss
ClinVar Annotator: match by term: Hearing impairment
ClinVar PMID:24033266 PMID:28492532 NCBI chr21:40,103,163...40,193,680
Ensembl chr21:40,106,826...40,192,475
JBrowse link
G OTOGL otogelin like ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar NCBI chr15:22,623,183...22,754,605
Ensembl chr15:22,556,295...22,753,956
JBrowse link
G PCDH15 protocadherin related 15 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
CTD
ClinVar
PMID:30029624 NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
JBrowse link
G PDE5A phosphodiesterase 5A treatment ISO RGD PMID:22270721 RGD:7775056 NCBI chr32:38,272,573...38,407,517
Ensembl chr32:38,244,338...38,407,522
JBrowse link
G PJVK pejvakin ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 NCBI chr36:22,080,574...22,087,537
Ensembl chr36:22,040,303...22,092,249
JBrowse link
G PLS1 plastin 1 ISO ClinVar Annotator: match by term: Hereditary hearing loss and deafness
ClinVar Annotator: match by term: Hearing impairment
ClinVar PMID:25741868 PMID:30872814 PMID:31397523 PMID:31432506 NCBI chr23:38,243,631...38,347,195
Ensembl chr23:38,243,024...38,347,202
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Hypoacusis ClinVar PMID:12369018 PMID:16575835 PMID:17559086 PMID:18640039 PMID:18752264 PMID:19299310 PMID:22323514 PMID:23757202 PMID:24304607 PMID:24491487 PMID:25741868 PMID:28492532 PMID:32860008 NCBI chr 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836
JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 ISO RGD PMID:22270721 RGD:7775056 NCBI chr26:35,732,974...36,932,744
Ensembl chr26:35,737,242...36,932,729
JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 NCBI chr36:22,061,226...22,080,324
Ensembl chr36:22,061,461...22,080,612
JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, X-Linked ClinVar NCBI chr  X:81,150,537...81,171,521
Ensembl chr  X:81,150,536...81,212,689
JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:18429043 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848
JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 NCBI chr15:22,771,653...23,017,694
Ensembl chr15:22,825,348...23,013,762
JBrowse link
G PTPRS protein tyrosine phosphatase receptor type S ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30872814 NCBI chr20:54,575,853...54,672,141
Ensembl chr20:54,575,895...54,672,068
JBrowse link
G RDX radixin ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar NCBI chr 5:22,555,913...22,642,822
Ensembl chr 5:22,571,286...22,642,811
JBrowse link
G RPGR retinitis pigmentosa GTPase regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12920075 NCBI chr  X:33,056,371...33,105,036
Ensembl chr  X:32,745,020...33,330,841
JBrowse link
G SF3B4 splicing factor 3b subunit 4 ISO ClinVar Annotator: match by term: Hereditary hearing loss and deafness ClinVar PMID:25741868 NCBI chr17:59,208,989...59,214,643
Ensembl chr17:59,208,990...59,213,991
JBrowse link
G SH3PXD2B SH3 and PX domains 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19669234 NCBI chr 4:39,854,213...39,950,704
Ensembl chr 4:39,854,211...39,949,958
JBrowse link
G SIX1 SIX homeobox 1 ISO DNA:missense mutation:cds:p.E121G (mouse)
DNA:mutation:cds:c.373G >A(p.E125K)(human)
RGD PMID:15141091 PMID:19389353 RGD:8554876 RGD:8554879 NCBI chr 8:35,676,705...35,679,534
Ensembl chr 8:35,676,479...35,679,534
JBrowse link
G SLC12A2 solute carrier family 12 member 2 ISO ClinVar Annotator: match by term: Hearing loss ClinVar PMID:32294086 PMID:32658972 NCBI chr11:17,143,943...17,256,248
Ensembl chr11:17,143,943...17,253,695
JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Hearing loss
CTD
ClinVar
PMID:22116360 PMID:24033266 PMID:25741868 PMID:29320412 NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212
JBrowse link
G SLC26A5 solute carrier family 26 member 5 no_association ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
DNA:snp:intron:IVS2-2A>G (human)
RGD
ClinVar
PMID:12719379 PMID:15319415 PMID:16086836 RGD:9479049 RGD:9479050 RGD:9479051 NCBI chr18:16,783,795...16,841,946
Ensembl chr18:16,788,759...16,839,940
JBrowse link
G SLC29A3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20140240 NCBI chr 4:22,094,899...22,135,066
Ensembl chr 4:22,097,764...22,133,197
JBrowse link
G SLC33A1 solute carrier family 33 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22243965 NCBI chr23:49,522,325...49,548,004
Ensembl chr23:49,523,852...49,547,904
JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: therapeutic RGD
CTD
PMID:11474137 PMID:16055286 RGD:1581213 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20712533 NCBI chr37:1,513,438...1,549,837
Ensembl chr37:1,507,219...1,550,178
JBrowse link
G STRC stereocilin ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 NCBI chr30:10,444,726...10,459,058
Ensembl chr30:10,444,793...10,460,785
JBrowse link
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hypoacusis
ClinVar Annotator: match by term: Hearing impairment
ClinVar PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 PMID:24586623 PMID:25741868 PMID:27627659 PMID:28000701 NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147
JBrowse link
G TJP2 tight junction protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21782914 NCBI chr 1:88,126,134...88,251,018
Ensembl chr 1:88,126,136...88,230,654
JBrowse link
G TLR2 toll like receptor 2 susceptibility ISO associated with Meningitis,Bacterial; DNA:haplotype: :2477G>A(rs5743708)(human) RGD PMID:22662111 RGD:7800663 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
JBrowse link
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 chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
JBrowse link
G TLR9 toll like receptor 9 ISO associated with Meningitis,Bacterial; DNA:SNP: :-1237T>C(rs5743836)(human) RGD PMID:22662111 RGD:7800663 NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114
JBrowse link
G TMC1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369
JBrowse link
G TMIE transmembrane inner ear ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar NCBI chr20:42,052,607...42,061,424
Ensembl chr20:42,053,817...42,061,262
JBrowse link
G TMPRSS3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 PMID:25741868 NCBI chr31:36,706,229...36,730,444
Ensembl chr31:36,707,723...36,730,520
JBrowse link
G TNF tumor necrosis factor ISO associated with Cytomegalovirus Infections;protein:increased expression:scala tympani: RGD PMID:22001951 RGD:7394702 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G UCP2 uncoupling protein 2 ISO mRNA, protein:increased expression:cochlea (rat) RGD PMID:22543089 RGD:10045653 NCBI chr21:24,304,410...24,311,392
Ensembl chr21:24,304,457...24,311,128
JBrowse link
G UCP3 uncoupling protein 3 ISO mRNA, protein:increased expression:cochlea (rat) RGD PMID:22543089 RGD:10045653 NCBI chr21:24,272,522...24,290,304
Ensembl chr21:24,277,896...24,288,639
JBrowse link
G USH1C USH1 protein network component harmonin ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
RGD
ClinVar
PMID:12136232 RGD:8694454 NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
JBrowse link
G USH1G USH1 protein network component sans ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hearing impairment
CTD
ClinVar
PMID:30029624 PMID:30872814 NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900
JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Hypoacusis
RGD
ClinVar
PMID:14970843 PMID:15015129 PMID:15241801 PMID:16098008 PMID:16963483 PMID:17360538 PMID:18273898 PMID:18463160 PMID:18641288 PMID:19683999 PMID:19881469 PMID:21569298 PMID:22004887 PMID:22135276 PMID:24033266 PMID:24944099 PMID:25262649 PMID:25333064 PMID:25342620 PMID:25575603 PMID:25741868 PMID:25999674 PMID:26927203 PMID:27460420 PMID:28041643 PMID:28157192 PMID:28492532 PMID:29293505 PMID:30718709 PMID:30872814 RGD:8547954 NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
JBrowse link
G WHRN whirlin ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar NCBI chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977
JBrowse link
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERAC1 serine active site containing 1 ISO OMIM NCBI chr 1:47,599,802...47,651,034
Ensembl chr 1:47,578,472...47,669,494
JBrowse link
aminoglycoside-induced deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Aminoglycoside-induced deafness 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 NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893
JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase ISO OMIM NCBI chr10:19,841,813...19,859,514
Ensembl chr10:19,841,854...19,859,470
JBrowse link
Arts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273
JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO OMIM NCBI chr  X:81,150,537...81,171,521
Ensembl chr  X:81,150,536...81,212,689
JBrowse link
Athabaskan brainstem dysgenesis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXA1 homeobox A1 ISO OMIM NCBI chr14:40,267,033...40,272,212
Ensembl chr14:40,267,528...40,269,681
JBrowse link
G HOXA2 homeobox A2 ISO ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome ClinVar NCBI chr14:40,273,992...40,276,975
Ensembl chr14:40,274,469...40,276,239
JBrowse link
AUDITORY NEUROPATHY AND OPTIC ATROPHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FDXR ferredoxin reductase ISO OMIM NCBI chr 9:5,567,411...5,577,427
Ensembl chr 9:5,567,328...5,577,277
JBrowse link
autosomal dominant auditory neuropathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIAPH3 diaphanous related formin 3 ISO OMIM NCBI chr22:15,573,485...16,078,580
Ensembl chr22:15,573,629...16,079,031
JBrowse link
autosomal dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNMT1 DNA methyltransferase 1 ISO OMIM NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
JBrowse link
autosomal dominant congenital deafness with onychodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 ISO OMIM NCBI chr25:36,833,246...36,858,846
Ensembl chr25:36,834,196...36,858,819
JBrowse link
Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSPP dentin sialophosphoprotein ISO OMIM NCBI chr32:11,017,440...11,022,780 JBrowse link
Autosomal Dominant Deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 4 ClinVar PMID:15015131 PMID:15845534 PMID:16222661 PMID:23967202 PMID:24033266 PMID:24082139 PMID:25741868 PMID:26284702 PMID:26346818 PMID:26467025 PMID:27393652 PMID:28492532 PMID:30828794 NCBI chr 1:106,371,952...106,460,388
Ensembl chr 1:106,371,939...106,458,901
JBrowse link
autosomal dominant keratitis-ichthyosis-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO OMIM NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
JBrowse link
autosomal dominant nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474
JBrowse link
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 NCBI chr 7:66,489,124...66,758,207
Ensembl chr 7:66,503,999...66,639,013
JBrowse link
G PDE1C phosphodiesterase 1C ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:29860631 NCBI chr14:44,250,612...44,543,818
Ensembl chr14:44,145,534...44,644,937
JBrowse link
G PLS1 plastin 1 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:31397523 NCBI chr23:38,243,631...38,347,195
Ensembl chr23:38,243,024...38,347,202
JBrowse link
autosomal dominant nonsyndromic deafness 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIAPH1 diaphanous related formin 1 ISO OMIM NCBI chr 2:36,483,781...36,581,390
Ensembl chr 2:36,485,571...36,581,320
JBrowse link
autosomal dominant nonsyndromic deafness 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EYA4 EYA transcriptional coactivator and phosphatase 4 ISO OMIM NCBI chr 1:26,208,514...26,514,601
Ensembl chr 1:26,272,448...26,514,201
JBrowse link
autosomal dominant nonsyndromic deafness 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO7A myosin VIIA ISO OMIM NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
JBrowse link
autosomal dominant nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TECTA tectorin alpha ISO OMIM NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147
JBrowse link
autosomal dominant nonsyndromic deafness 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 13 ClinVar PMID:1157798 PMID:11802208 PMID:12161611 PMID:15744030 PMID:15923272 PMID:16489001 PMID:17403394 PMID:18036263 PMID:19404736 PMID:20516115 PMID:21702907 PMID:22034289 PMID:22889855 PMID:23867111 PMID:24055113 PMID:25637381 PMID:25741868 PMID:26287763 PMID:26467025 PMID:26689913 PMID:27495310 PMID:28024868 PMID:28492532 PMID:28781887 PMID:30209399 PMID:30263132 PMID:30458859 PMID:30765603 NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494
JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO OMIM NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814
JBrowse link
autosomal dominant nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POU4F3 POU class 4 homeobox 3 ISO OMIM NCBI chr 2:40,762,499...40,764,131
Ensembl chr 2:40,762,477...40,765,161
JBrowse link
autosomal dominant nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STRC stereocilin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:22147502 PMID:24033266 NCBI chr30:10,444,726...10,459,058
Ensembl chr30:10,444,793...10,460,785
JBrowse link
G TMC1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:18381613 PMID:18616530 PMID:19187973 PMID:21917145 PMID:24033266 NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369
JBrowse link
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH9 myosin heavy chain 9 ISO OMIM NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953
JBrowse link
autosomal dominant nonsyndromic deafness 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG1 actin gamma 1 ISO OMIM NCBI chr 9:635,978...638,328
Ensembl chr 9:635,978...638,328
JBrowse link
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO6 myosin VI ISO OMIM NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724
JBrowse link
autosomal dominant nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SIX1 SIX homeobox 1 ISO OMIM NCBI chr 8:35,676,705...35,679,534
Ensembl chr 8:35,676,479...35,679,534
JBrowse link
autosomal dominant nonsyndromic deafness 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC17A8 solute carrier family 17 member 8 ISO OMIM NCBI chr15:39,443,790...39,489,988
Ensembl chr15:39,443,518...39,486,595
JBrowse link
autosomal dominant nonsyndromic deafness 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G REST RE1 silencing transcription factor ISO OMIM NCBI chr13:49,041,082...49,062,596
Ensembl chr13:49,041,047...49,059,388
JBrowse link
autosomal dominant nonsyndromic deafness 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRHL2 grainyhead like transcription factor 2 ISO OMIM NCBI chr13:3,204,898...3,362,533
Ensembl chr13:3,204,925...3,362,096
JBrowse link
autosomal dominant nonsyndromic deafness 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNQ4 potassium voltage-gated channel subfamily Q member 4 ISO OMIM NCBI chr15:2,203,938...2,257,152
Ensembl chr15:2,205,276...2,242,093
JBrowse link
autosomal dominant nonsyndromic deafness 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB3 gap junction protein beta 3 ISO OMIM NCBI chr15:7,175,010...7,177,145 JBrowse link
autosomal dominant nonsyndromic deafness 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP3 NLR family pyrin domain containing 3 ISO OMIM NCBI chr 8:251,776...313,290
Ensembl chr 8:253,407...313,059
JBrowse link
autosomal dominant nonsyndromic deafness 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC1 transmembrane channel like 1 ISO OMIM NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A1 collagen type XI alpha 1 chain ISO OMIM NCBI chr 6:47,425,387...47,622,189
Ensembl chr 6:47,425,307...47,621,012
JBrowse link
autosomal dominant nonsyndromic deafness 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO OMIM NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
JBrowse link
autosomal dominant nonsyndromic deafness 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB6 gap junction protein beta 6 ISO OMIM NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605
JBrowse link
autosomal dominant nonsyndromic deafness 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRYM crystallin mu ISO OMIM NCBI chr 6:24,187,073...24,204,304
Ensembl chr 6:24,187,121...24,204,304
JBrowse link
autosomal dominant nonsyndromic deafness 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P2RX2 purinergic receptor P2X 2 ISO OMIM NCBI chr26:480,370...485,527
Ensembl chr26:482,425...485,502
JBrowse link
autosomal dominant nonsyndromic deafness 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC50 coiled-coil domain containing 50 ISO OMIM NCBI chr34:23,168,594...23,243,221
Ensembl chr34:23,168,525...23,258,497
JBrowse link
autosomal dominant nonsyndromic deafness 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO1A myosin IA ISO OMIM NCBI chr10:1,159,816...1,194,452
Ensembl chr10:1,159,812...1,193,153
JBrowse link
autosomal dominant nonsyndromic deafness 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH14 myosin heavy chain 14 ISO OMIM NCBI chr 1:106,371,952...106,460,388
Ensembl chr 1:106,371,939...106,458,901
JBrowse link
autosomal dominant nonsyndromic deafness 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component ISO OMIM NCBI chr 1:110,652,362...110,661,173
Ensembl chr 1:110,652,584...110,660,334
JBrowse link
autosomal dominant nonsyndromic deafness 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSDME gasdermin E ISO OMIM NCBI chr14:38,210,975...38,286,729
Ensembl chr14:38,211,540...38,292,280
JBrowse link
autosomal dominant nonsyndromic deafness 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR96 microRNA mir-96 ISO OMIM NCBI chr14:7,068,754...7,068,842
Ensembl chr14:7,068,754...7,068,842
JBrowse link
autosomal dominant nonsyndromic deafness 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TJP2 tight junction protein 2 ISO OMIM NCBI chr 1:88,126,134...88,251,018
Ensembl chr 1:88,126,136...88,230,654
JBrowse link
autosomal dominant nonsyndromic deafness 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POU4F3 POU class 4 homeobox 3 ISO OMIM NCBI chr 2:40,762,499...40,764,131
Ensembl chr 2:40,762,477...40,765,161
JBrowse link
autosomal dominant nonsyndromic deafness 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAPPA pappalysin 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr11:69,979,295...70,220,256
Ensembl chr11:69,982,268...70,219,550
JBrowse link
G TNC tenascin C ISO OMIM NCBI chr11:69,077,532...69,169,673
Ensembl chr11:69,077,535...69,170,281
JBrowse link
G TNFSF8 TNF superfamily member 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355
JBrowse link
autosomal dominant nonsyndromic deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WFS1 wolframin ER transmembrane glycoprotein ISO OMIM NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
JBrowse link
autosomal dominant nonsyndromic deafness 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIABLO diablo IAP-binding mitochondrial protein ISO OMIM NCBI chr26:7,125,320...7,144,884
Ensembl chr26:7,125,405...7,144,308
JBrowse link
autosomal dominant nonsyndromic deafness 65 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBC1D24 TBC1 domain family member 24 ISO OMIM NCBI chr 6:38,531,547...38,557,472 JBrowse link
autosomal dominant nonsyndromic deafness 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD164 CD164 molecule ISO OMIM NCBI chr12:66,295,444...66,309,691
Ensembl chr12:66,297,248...66,310,186
JBrowse link
autosomal dominant nonsyndromic deafness 69 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KITLG KIT ligand ISO OMIM NCBI chr15:29,591,068...29,671,985
Ensembl chr15:29,591,170...29,671,974
JBrowse link
autosomal dominant nonsyndromic deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMX1A LIM homeobox transcription factor 1 alpha ISO OMIM NCBI chr38:17,958,366...18,111,155
Ensembl chr38:17,956,961...18,109,049
JBrowse link
autosomal dominant nonsyndromic deafness 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCM2 minichromosome maintenance complex component 2 ISO OMIM NCBI chr20:1,682,928...1,702,689
Ensembl chr20:1,682,886...1,702,366
JBrowse link
autosomal dominant nonsyndromic deafness 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMXL2 Dmx like 2 ISO OMIM NCBI chr30:17,156,077...17,308,641
Ensembl chr30:17,156,791...17,308,803
JBrowse link
autosomal dominant nonsyndromic deafness 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC44A4 solute carrier family 44 member 4 ISO OMIM NCBI chr12:1,328,276...1,340,752
Ensembl chr12:1,328,399...1,340,778
JBrowse link
autosomal dominant nonsyndromic deafness 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTPRQ protein tyrosine phosphatase receptor type Q ISO OMIM NCBI chr15:22,771,653...23,017,694
Ensembl chr15:22,825,348...23,013,762
JBrowse link
autosomal dominant nonsyndromic deafness 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE1C phosphodiesterase 1C ISO OMIM NCBI chr14:44,250,612...44,543,818
Ensembl chr14:44,145,534...44,644,937
JBrowse link
autosomal dominant nonsyndromic deafness 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRRAP transformation/transcription domain associated protein ISO OMIM NCBI chr 6:10,519,734...10,635,175
Ensembl chr 6:10,519,711...10,632,776
JBrowse link
autosomal dominant nonsyndromic deafness 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLS1 plastin 1 ISO OMIM NCBI chr23:38,243,631...38,347,195
Ensembl chr23:38,243,024...38,347,202
JBrowse link
autosomal dominant nonsyndromic deafness 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC1 ATP binding cassette subfamily C member 1 ISO OMIM NCBI chr 6:27,855,702...27,950,140
Ensembl chr 6:27,855,702...27,989,331
JBrowse link
autosomal dominant nonsyndromic deafness 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC12A2 solute carrier family 12 member 2 ISO OMIM NCBI chr11:17,143,943...17,256,248
Ensembl chr11:17,143,943...17,253,695
JBrowse link
autosomal dominant nonsyndromic deafness 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCD5 stearoyl-CoA desaturase 5 ISO OMIM NCBI chr32:6,594,607...6,745,379
Ensembl chr32:6,595,424...6,745,308
JBrowse link
autosomal dominant nonsyndromic deafness 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COCH cochlin ISO OMIM NCBI chr 8:10,215,101...10,230,017
Ensembl chr 8:10,214,536...10,233,550
JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WFS1 wolframin ER transmembrane glycoprotein ISO OMIM NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
JBrowse link
autosomal recessive nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH23 cadherin related 23 ISO DNA:missense mutations:multiple RGD PMID:17850630 RGD:8662281 NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G CLIC5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr12:14,160,524...14,318,174
Ensembl chr12:14,144,390...14,318,582
JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 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:10633135 PMID:10713883 PMID:10751669 PMID:10782932 PMID:10807696 PMID:10982182 PMID:11313751 PMID:11313763 PMID:11386851 PMID:11483639 PMID:11493200 PMID:11668644 PMID:11918723 PMID:12072059 PMID:12081719 PMID:12172392 PMID:12176036 PMID:12239718 PMID:12522556 PMID:12684873 PMID:12786762 PMID:14070830 PMID:14986832 PMID:15040442 PMID:15070423 PMID:15113126 PMID:15359540 PMID:15365987 PMID:15482471 PMID:15666300 PMID:15954104 PMID:15967879 PMID:16088916 PMID:16336662 PMID:16380907 PMID:16773579 PMID:16868655 PMID:17428550 PMID:17553572 PMID:17993581 PMID:18294064 PMID:18414213 PMID:18804553 PMID:18925674 PMID:18985073 PMID:19371219 PMID:19375528 PMID:19925344 PMID:20073550 PMID:20236118 PMID:20301449 PMID:20739944 PMID:20815033 PMID:21056478 PMID:21465647 PMID:21468573 PMID:21910243 PMID:22567152 PMID:22855627 PMID:22975760 PMID:22981120 PMID:23489192 PMID:23757202 PMID:24033266 PMID:24158611 PMID:24346070 PMID:25741868 PMID:25937001 PMID:25999548 PMID:26467025 PMID:26940866 PMID:26969326 PMID:28492532 PMID:29362677 PMID:29501291 PMID:30311386 PMID:30872814 NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
JBrowse link
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10587579 NCBI chr15:7,175,010...7,177,145 JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:23768512 PMID:23894383 PMID:25741868 PMID:26133662 PMID:28492532 NCBI chr20:39,550,799...39,553,045
Ensembl chr20:39,550,799...39,553,045
JBrowse link
G GPSM2 G protein signaling modulator 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:20602914 PMID:22578326 NCBI chr 6:42,828,611...42,878,334
Ensembl chr 6:42,824,455...42,868,690
JBrowse link
G LOXHD1 lipoxygenase homology domains 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:19732867 PMID:21465660 PMID:25741868 PMID:25792669 PMID:28000701 PMID:28492532 NCBI chr 7:44,662,800...44,828,405
Ensembl chr 7:44,663,182...44,826,858
JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953
JBrowse link
G OTOF otoferlin ISO DNA:missense mutation:cds:p.I318N (mouse)
ClinVar Annotator: match by term: Deafness, autosomal recessive
RGD
ClinVar
PMID:17967520 PMID:27082237 RGD:9479154 NCBI chr17:20,518,480...20,619,713
Ensembl chr17:20,518,813...20,614,750
JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212
JBrowse link
autosomal recessive nonsyndromic deafness 100 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 ISO OMIM NCBI chr 3:8,013,879...8,083,177
Ensembl chr 3:8,002,012...8,087,684
JBrowse link
autosomal recessive nonsyndromic deafness 101 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRXCR2 glutaredoxin and cysteine rich domain containing 2 ISO OMIM NCBI chr 2:40,310,285...40,330,200
Ensembl chr 2:40,315,807...40,328,240
JBrowse link
autosomal recessive nonsyndromic deafness 102 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPS8 epidermal growth factor receptor pathway substrate 8 ISO OMIM NCBI chr27:30,893,884...31,070,401
Ensembl chr27:30,893,713...31,069,770
JBrowse link
autosomal recessive nonsyndromic deafness 103 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLIC5 chloride intracellular channel 5 ISO OMIM NCBI chr12:14,160,524...14,318,174
Ensembl chr12:14,144,390...14,318,582
JBrowse link
autosomal recessive nonsyndromic deafness 104 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RIPOR2 RHO family interacting cell polarization regulator 2 ISO OMIM NCBI chr35:22,823,053...23,041,765
Ensembl chr35:22,824,106...23,041,743
JBrowse link
autosomal recessive nonsyndromic deafness 106 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPS8 epidermal growth factor receptor pathway substrate 8 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 106 ClinVar PMID:28492532 NCBI chr27:30,893,884...31,070,401
Ensembl chr27:30,893,713...31,069,770
JBrowse link
G EPS8L2 EPS8 like 2 ISO OMIM NCBI chr18:25,741,166...25,755,310
Ensembl chr18:25,733,090...25,755,658
JBrowse link
autosomal recessive nonsyndromic deafness 107 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WBP2 WW domain binding protein 2 ISO OMIM NCBI chr 9:4,743,476...4,752,301
Ensembl chr 9:4,743,539...4,752,270
JBrowse link
autosomal recessive nonsyndromic deafness 108 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ROR1 receptor tyrosine kinase like orphan receptor 1 ISO OMIM NCBI chr 5:46,010,097...46,477,882
Ensembl chr 5:46,013,195...46,190,880
JBrowse link
autosomal recessive nonsyndromic deafness 109 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESRP1 epithelial splicing regulatory protein 1 ISO OMIM NCBI chr29:39,322,516...39,388,363
Ensembl chr29:39,333,117...39,387,337
JBrowse link
autosomal recessive nonsyndromic deafness 110 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COCH cochlin ISO OMIM NCBI chr 8:10,215,101...10,230,017
Ensembl chr 8:10,214,536...10,233,550
JBrowse link
autosomal recessive nonsyndromic deafness 111 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPZL2 myelin protein zero like 2 ISO OMIM NCBI chr 5:15,446,803...15,458,667
Ensembl chr 5:15,447,104...15,458,515
JBrowse link
autosomal recessive nonsyndromic deafness 112 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB ISO OMIM NCBI chr 2:54,654,406...54,743,443
Ensembl chr 2:54,654,481...54,740,787
JBrowse link
autosomal recessive nonsyndromic deafness 113 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component ISO OMIM NCBI chr 1:110,652,362...110,661,173
Ensembl chr 1:110,652,584...110,660,334
JBrowse link
autosomal recessive nonsyndromic deafness 114 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC489534 GRB2 related adaptor protein ISO OMIM NCBI chr 5:41,014,193...41,038,965 JBrowse link
autosomal recessive nonsyndromic deafness 116 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN9 claudin 9 ISO OMIM NCBI chr 6:38,172,035...38,174,089
Ensembl chr 6:38,172,550...38,173,203
JBrowse link
autosomal recessive nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO OMIM NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474
JBrowse link
G C4H10orf105 chromosome 4 C10orf105 homolog ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 PMID:17850630 PMID:18273900 PMID:18429043 PMID:20146813 PMID:21228398 PMID:21569298 PMID:21940737 PMID:22135276 PMID:22899989 PMID:24033266 PMID:24875298 PMID:25468891 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:22,472,365...22,478,931 JBrowse link
G CDH23 cadherin related 23 ISO OMIM NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
JBrowse link
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 chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848
JBrowse link
autosomal recessive nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GIPC3 GIPC PDZ domain containing family member 3 ISO OMIM NCBI chr20:55,833,876...55,837,621 JBrowse link
autosomal recessive nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr30:10,471,798...10,487,948
Ensembl chr30:10,471,814...10,487,739
JBrowse link
G LOC478277 creatine kinase U-type, mitochondrial ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr30:10,438,566...10,444,532 JBrowse link
G STRC stereocilin ISO OMIM NCBI chr30:10,444,726...10,459,058
Ensembl chr30:10,444,793...10,460,785
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 18 ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16679490 PMID:16963483 PMID:17174357 PMID:17407589 PMID:18665195 PMID:20095043 PMID:20142502 PMID:20301442 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:23380860 PMID:24033266 PMID:24416283 PMID:24498627 PMID:24875298 PMID:25356976 PMID:25468891 PMID:25525159 PMID:25560255 PMID:25741868 PMID:26969326 PMID:27743452 PMID:28041643 PMID:28492532 PMID:30096381 PMID:30718709 NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
JBrowse link
autosomal recessive nonsyndromic deafness 18A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USH1C USH1 protein network component harmonin ISO OMIM NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
JBrowse link
autosomal recessive nonsyndromic deafness 18B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTOG otogelin ISO OMIM NCBI chr21:40,103,163...40,193,680
Ensembl chr21:40,106,826...40,192,475
JBrowse link
autosomal recessive nonsyndromic deafness 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRYL1 crystallin lambda 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar PMID:15994881 PMID:17041943 PMID:18324688 PMID:20236118 PMID:28492532 NCBI chr25:17,551,586...17,733,754
Ensembl chr25:17,562,926...17,733,630
JBrowse link
G EEF1AKMT1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr25:17,357,251...17,382,098
Ensembl chr25:17,357,328...17,381,821
JBrowse link
G GJA3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr25:17,986,270...18,004,344
Ensembl chr25:18,002,817...18,004,160
JBrowse link
G GJB2 gap junction protein beta 2 ISO OMIM NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
JBrowse link
G GJB3 gap junction protein beta 3 ISO OMIM NCBI chr15:7,175,010...7,177,145 JBrowse link
G GJB4 gap junction protein beta 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:17259707 PMID:25333454 PMID:25741868 NCBI chr15:7,193,183...7,195,586 JBrowse link
G GJB6 gap junction protein beta 6 ISO OMIM NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605
JBrowse link
G IFT88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr25:17,414,965...17,551,405
Ensembl chr25:17,414,965...17,551,266
JBrowse link
G IL17D interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr25:17,386,815...17,390,315 JBrowse link
G XPO4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr25:17,230,401...17,352,600
Ensembl chr25:17,230,031...17,348,031
JBrowse link
autosomal recessive nonsyndromic deafness 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:2706105 PMID:2956987 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9422505 PMID:9482292 PMID:9529365 PMID:9600457 PMID:9620796 PMID:9716127 PMID:9819448 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10369869 PMID:10376574 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:10807696 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10980526 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:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11556849 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11807148 PMID:11912510 PMID:11918723 PMID:11935342 PMID:11968091 PMID:12064630 PMID:12072059 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:12786758 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12865758 PMID:12885339 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14520102 PMID:14571368 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14738110 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15040442 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15479191 PMID:15482471 PMID:15617550 PMID:15638823 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:15994881 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 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:17018967 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17331080 PMID:17357124 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17505205 PMID:17553572 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18294064 PMID:18324688 PMID:18414213 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:19586875 PMID:19707039 PMID:19715472 PMID:19723508 PMID:19814620 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20095872 PMID:20096468 PMID:20154630 PMID:20201936 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20497192 PMID:20563649 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20981092 PMID:21056478 PMID:21094084 PMID:21122151 PMID:21162657 PMID:21465647 PMID:21468573 PMID:21488715 PMID:21776002 PMID:21811586 PMID:21815880 PMID:21910243 PMID:22000900 PMID:22011219 PMID:22037723 PMID:22106692 PMID:22281373 PMID:22567152 PMID:22567369 PMID:22574200 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22855627 PMID:22937313 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23141775 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23554706 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23668481 PMID:23680645 PMID:23757202 PMID:23804846 PMID:23808595 PMID:23826813 PMID:23856378 PMID:23873582 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24123366 PMID:24158611 PMID:24341454 PMID:24346070 PMID:24529908 PMID:24611097 PMID:24624091 PMID:24645897 PMID:24654934 PMID:24737404 PMID:24793888 PMID:24814571 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25087612 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25288386 PMID:25326637 PMID:25388846 PMID:25555641 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25937001 PMID:25999548 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26444186 PMID:26467025 PMID:26482070 PMID:26681637 PMID:26778469 PMID:26832775 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:27045574 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27466889 PMID:27480936 PMID:27481527 PMID:27501294 PMID:27610647 PMID:27623246 PMID:27785406 PMID:27792752 PMID:27843504 PMID:27884957 PMID:28000701 PMID:28489599 PMID:28492532 PMID:29362677 PMID:29501291 PMID:29921236 PMID:30094485 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:32090102 PMID:115556849 PMID:163800907 NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
JBrowse link
G GJB6 gap junction protein beta 6 ISO OMIM NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605
JBrowse link
autosomal recessive nonsyndromic deafness 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO7A myosin VIIA ISO OMIM NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
JBrowse link
G TMC1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2 ClinVar PMID:18381613 PMID:18616530 PMID:19187973 PMID:21917145 PMID:24033266 NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369
JBrowse link
autosomal recessive nonsyndromic deafness 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TECTA tectorin alpha ISO OMIM NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147
JBrowse link
autosomal recessive nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTOA otoancorin ISO OMIM NCBI chr 6:23,106,650...23,175,159
Ensembl chr 6:23,106,804...23,168,380
JBrowse link
autosomal recessive nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCDH15 protocadherin related 15 ISO OMIM NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
JBrowse link
autosomal recessive nonsyndromic deafness 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RDX radixin ISO OMIM NCBI chr 5:22,555,913...22,642,822
Ensembl chr 5:22,571,286...22,642,811
JBrowse link
autosomal recessive nonsyndromic deafness 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 ISO OMIM NCBI chr13:39,766,910...39,882,076
Ensembl chr13:39,766,919...39,882,086
JBrowse link
autosomal recessive nonsyndromic deafness 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GAB1 GRB2 associated binding protein 1 ISO OMIM NCBI chr19:10,269...117,808
Ensembl chr19:12,616...156,694
JBrowse link
autosomal recessive nonsyndromic deafness 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIO trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 28 ClinVar PMID:25741868 PMID:32109419 NCBI chr34:271,572...505,656
Ensembl chr34:272,290...505,636
JBrowse link
G TRIOBP TRIO and F-actin binding protein ISO OMIM NCBI chr10:26,856,981...26,913,330
Ensembl chr10:26,857,678...26,911,083
JBrowse link
autosomal recessive nonsyndromic deafness 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN14 claudin 14 ISO OMIM NCBI chr31:31,677,410...31,725,794
Ensembl chr31:31,677,733...31,678,446
JBrowse link
autosomal recessive nonsyndromic deafness 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO15A myosin XVA ISO OMIM NCBI chr 5:41,369,484...41,421,303
Ensembl chr 5:41,370,509...41,392,881
JBrowse link
autosomal recessive nonsyndromic deafness 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO3A myosin IIIA ISO OMIM NCBI chr 2:7,455,125...7,695,483
Ensembl chr 2:7,455,625...7,696,043
JBrowse link
autosomal recessive nonsyndromic deafness 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WHRN whirlin ISO OMIM NCBI chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977
JBrowse link
autosomal recessive nonsyndromic deafness 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC14A cell division cycle 14A ISO OMIM NCBI chr 6:49,429,675...49,678,376
Ensembl chr 6:49,497,939...49,693,665
JBrowse link
autosomal recessive nonsyndromic deafness 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESRRB estrogen related receptor beta ISO OMIM NCBI chr 8:49,253,877...49,424,148
Ensembl chr 8:49,253,332...49,421,332
JBrowse link
autosomal recessive nonsyndromic deafness 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESPN espin ISO OMIM NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676
JBrowse link
autosomal recessive nonsyndromic deafness 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO6 myosin VI ISO OMIM NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724
JBrowse link
autosomal recessive nonsyndromic deafness 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HGF hepatocyte growth factor ISO OMIM NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263
JBrowse link
autosomal recessive nonsyndromic deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXI1 forkhead box I1 ISO OMIM NCBI chr 4:41,760,899...41,764,887
Ensembl chr 4:41,761,016...41,764,836
JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO OMIM NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813
JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 ClinVar PMID:15205219 PMID:21465660 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26602028 PMID:28492532 NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO OMIM NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212
JBrowse link
autosomal recessive nonsyndromic deafness 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ILDR1 immunoglobulin like domain containing receptor 1 ISO OMIM NCBI chr33:25,207,537...25,238,071
Ensembl chr33:25,207,572...25,237,949
JBrowse link
autosomal recessive nonsyndromic deafness 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY1 adenylate cyclase 1 ISO OMIM NCBI chr16:1,064,644...1,166,864
Ensembl chr16:1,037,162...1,167,094
JBrowse link
autosomal recessive nonsyndromic deafness 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIB2 calcium and integrin binding family member 2 ISO OMIM
autosomal recessive nonsyndromic deafness 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MARVELD2 MARVEL domain containing 2 ISO OMIM NCBI chr 2:54,438,046...54,458,890
Ensembl chr 2:54,441,797...54,457,515
JBrowse link
autosomal recessive nonsyndromic deafness 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A2 collagen type XI alpha 2 chain ISO OMIM NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814
JBrowse link
autosomal recessive nonsyndromic deafness 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDZD7 PDZ domain containing 7 ISO OMIM NCBI chr28:13,693,032...13,711,654
Ensembl chr28:13,693,023...13,711,784
JBrowse link
autosomal recessive nonsyndromic deafness 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PJVK pejvakin ISO OMIM NCBI chr36:22,080,574...22,087,537
Ensembl chr36:22,040,303...22,092,249
JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 59 ClinVar NCBI chr36:22,061,226...22,080,324
Ensembl chr36:22,061,461...22,080,612
JBrowse link
autosomal recessive nonsyndromic deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMIE transmembrane inner ear ISO OMIM NCBI chr20:42,052,607...42,061,424
Ensembl chr20:42,053,817...42,061,262
JBrowse link
autosomal recessive nonsyndromic deafness 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC26A5 solute carrier family 26 member 5 ISO OMIM NCBI chr18:16,783,795...16,841,946
Ensembl chr18:16,788,759...16,839,940
JBrowse link
autosomal recessive nonsyndromic deafness 63 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr21:25,971,680...25,975,556
Ensembl chr21:25,972,458...25,975,558
JBrowse link
G LOC106560171 transmembrane O-methyltransferase ISO OMIM NCBI chr21:25,975,547...25,981,097 JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar NCBI chr21:26,000,579...26,076,281
Ensembl chr21:26,037,095...26,075,549
JBrowse link
autosomal recessive nonsyndromic deafness 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCDC2 doublecortin domain containing 2 ISO OMIM NCBI chr35:22,264,484...22,422,769
Ensembl chr35:22,266,282...22,422,776
JBrowse link
autosomal recessive nonsyndromic deafness 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LHFPL5 LHFPL tetraspan subfamily member 5 ISO OMIM NCBI chr12:4,919,732...4,936,823
Ensembl chr12:4,902,832...4,936,413
JBrowse link
autosomal recessive nonsyndromic deafness 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G S1PR2 sphingosine-1-phosphate receptor 2 ISO OMIM NCBI chr20:50,855,505...50,862,985
Ensembl chr20:50,860,591...50,861,649
JBrowse link
autosomal recessive nonsyndromic deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC1 transmembrane channel like 1 ISO OMIM NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369
JBrowse link
autosomal recessive nonsyndromic deafness 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPT1 polyribonucleotide nucleotidyltransferase 1 ISO OMIM NCBI chr10:56,478,771...56,520,992
Ensembl chr10:56,478,680...56,520,967
JBrowse link
autosomal recessive nonsyndromic deafness 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSRB3 methionine sulfoxide reductase B3 ISO OMIM NCBI chr10:7,892,745...8,040,196
Ensembl chr10:7,892,640...8,038,043
JBrowse link
autosomal recessive nonsyndromic deafness 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SYNE4 spectrin repeat containing nuclear envelope family member 4 ISO OMIM NCBI chr 1:116,676,365...116,686,911
Ensembl chr 1:116,670,841...116,680,515
JBrowse link
autosomal recessive nonsyndromic deafness 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 77 ClinVar PMID:15205219 PMID:21465660 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26602028 PMID:28492532 NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
JBrowse link
G LOXHD1 lipoxygenase homology domains 1 ISO OMIM NCBI chr 7:44,662,800...44,828,405
Ensembl chr 7:44,663,182...44,826,858
JBrowse link
autosomal recessive nonsyndromic deafness 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TPRN taperin ISO OMIM
autosomal recessive nonsyndromic deafness 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMPRSS3 transmembrane serine protease 3 ISO OMIM NCBI chr31:36,706,229...36,730,444
Ensembl chr31:36,707,723...36,730,520
JBrowse link
autosomal recessive nonsyndromic deafness 84A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTPRQ protein tyrosine phosphatase receptor type Q ISO
IEA
Deafness, unilateral and vestibular dysfunction OMIM
OMIA
NCBI chr15:22,771,653...23,017,694
Ensembl chr15:22,825,348...23,013,762
JBrowse link
autosomal recessive nonsyndromic deafness 84B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTOGL otogelin like ISO OMIM NCBI chr15:22,623,183...22,754,605
Ensembl chr15:22,556,295...22,753,956
JBrowse link
autosomal recessive nonsyndromic deafness 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 NCBI chr 6:38,572,883...38,592,465
Ensembl chr 6:38,574,234...38,592,435
JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO OMIM NCBI chr 6:38,531,547...38,557,472 JBrowse link
autosomal recessive nonsyndromic deafness 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELMOD3 ELMO domain containing 3 ISO OMIM NCBI chr17:39,642,101...39,668,079
Ensembl chr17:39,643,676...39,665,726
JBrowse link
autosomal recessive nonsyndromic deafness 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KARS1 lysyl-tRNA synthetase 1 ISO OMIM NCBI chr 5:75,172,976...75,188,197
Ensembl chr 5:75,173,032...75,188,197
JBrowse link
autosomal recessive nonsyndromic deafness 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGSF6 immunoglobulin superfamily member 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 6:23,185,442...23,195,432
Ensembl chr 6:23,185,461...23,194,787
JBrowse link
G METTL9 methyltransferase like 9 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 6:23,182,800...23,230,288
Ensembl chr 6:23,183,103...23,230,262
JBrowse link
G OTOA otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 6:23,106,650...23,175,159
Ensembl chr 6:23,106,804...23,168,380
JBrowse link
G OTOF otoferlin ISO OMIM NCBI chr17:20,518,480...20,619,713
Ensembl chr17:20,518,813...20,614,750
JBrowse link
G RAI1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 PMID:27082237 NCBI chr 5:41,687,436...41,797,354
Ensembl chr 5:41,688,479...41,808,918
JBrowse link
G TMC1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 ClinVar PMID:18381613 PMID:18616530 PMID:19187973 PMID:21917145 PMID:24033266 NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369
JBrowse link
autosomal recessive nonsyndromic deafness 91 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINB6 serpin family B member 6 ISO OMIM NCBI chr35:3,234,694...3,245,726
Ensembl chr35:3,234,697...3,262,829
JBrowse link
autosomal recessive nonsyndromic deafness 93 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CABP2 calcium binding protein 2 ISO OMIM NCBI chr18:49,960,656...49,963,889
Ensembl chr18:49,959,544...49,964,268
JBrowse link
autosomal recessive nonsyndromic deafness 94 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NARS2 asparaginyl-tRNA synthetase 2, mitochondrial ISO OMIM NCBI chr21:20,277,707...20,413,624
Ensembl chr21:20,277,507...20,606,736
JBrowse link
autosomal recessive nonsyndromic deafness 97 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MET MET proto-oncogene, receptor tyrosine kinase ISO OMIM NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027
JBrowse link
autosomal recessive nonsyndromic deafness 98 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TSPEAR thrombospondin type laminin G domain and EAR repeats ISO OMIM NCBI chr31:38,273,306...38,340,525
Ensembl chr31:38,272,592...38,337,373
JBrowse link
autosomal recessive nonsyndromic deafness 99 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM132E transmembrane protein 132E ISO OMIM NCBI chr 9:38,671,687...38,688,875
Ensembl chr 9:38,671,711...38,682,209
JBrowse link
autosomal recessive spinocerebellar ataxia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC9A1 solute carrier family 9 member A1 ISO OMIM NCBI chr 2:73,054,742...73,103,364
Ensembl chr 2:73,054,742...73,103,364
JBrowse link
autosomal-mitochondrial sensorineural deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893
JBrowse link
Ayme-Gripp syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAF MAF bZIP transcription factor ISO OMIM NCBI chr 5:71,965,291...71,982,903
Ensembl chr 5:71,965,500...71,981,735
JBrowse link
Bart-Pumphrey syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO OMIM NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
JBrowse link
Bartter disease type 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSND barttin CLCNK type accessory subunit beta ISO OMIM NCBI chr 5:54,225,393...54,239,305
Ensembl chr 5:54,225,389...54,237,110
JBrowse link
Bartter disease type 4b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCNKA chloride voltage-gated channel Ka ISO OMIM NCBI chr 2:81,612,382...81,627,742 JBrowse link
Behr syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO OMIM NCBI chr23:52,068,123...52,154,410
Ensembl chr23:52,068,118...52,151,593
JBrowse link
Bilateral Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO3A myosin IIIA ISO DFNB30, OMIM:607101, DNA:point mutation:exon:Y1043X RGD PMID:12032315 RGD:1600555 NCBI chr 2:7,455,125...7,695,483
Ensembl chr 2:7,455,625...7,696,043
JBrowse link
G NEFH neurofilament heavy disease_progression ISO RGD PMID:27457532 RGD:27372873 NCBI chr26:22,726,523...22,735,129
Ensembl chr26:22,726,526...22,735,125
JBrowse link
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 chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212
JBrowse link
Bjornstad syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO OMIM NCBI chr37:25,261,704...25,266,517
Ensembl chr37:25,264,012...25,266,516
JBrowse link
Brown-Vialetto-Van Laere syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC52A2 solute carrier family 52 member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:37,779,896...37,786,653
Ensembl chr13:37,783,562...37,786,621
JBrowse link
G SLC52A3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr24:20,127,527...20,141,070
Ensembl chr24:20,127,520...20,156,003
JBrowse link
Brown-Vialetto-Van Laere syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC52A2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 1 ClinVar PMID:25741868 NCBI chr13:37,779,896...37,786,653
Ensembl chr13:37,783,562...37,786,621
JBrowse link
G SLC52A3 solute carrier family 52 member 3 ISO OMIM NCBI chr24:20,127,527...20,141,070
Ensembl chr24:20,127,520...20,156,003
JBrowse link
Brown-Vialetto-Van Laere syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCK5 aarF domain containing kinase 5 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,800,562...37,817,449
Ensembl chr13:37,799,956...37,818,256
JBrowse link
G BOP1 BOP1 ribosomal biogenesis factor ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,698,635...37,723,803
Ensembl chr13:37,698,698...37,724,457
JBrowse link
G CPSF1 cleavage and polyadenylation specific factor 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,817,440...37,827,868
Ensembl chr13:37,817,442...37,825,212
JBrowse link
G CYC1 cytochrome c1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,590,919...37,593,239
Ensembl chr13:37,590,912...37,593,156
JBrowse link
G CYHR1 cysteine and histidine rich 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,860,452...37,871,982
Ensembl chr13:37,858,424...37,874,624
JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,745,395...37,761,337
Ensembl chr13:37,741,706...37,756,916
JBrowse link
G EXOSC4 exosome component 4 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,574,359...37,576,331
Ensembl chr13:37,574,527...37,577,380
JBrowse link
G FBXL6 F-box and leucine rich repeat protein 6 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,780,991...37,783,976
Ensembl chr13:37,780,974...37,785,045
JBrowse link
G FOXH1 forkhead box H1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,883,554...37,887,324
Ensembl chr13:37,882,687...37,885,319
JBrowse link
G GPAA1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,577,162...37,580,346
Ensembl chr13:37,576,354...37,580,345
JBrowse link
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:28492532 NCBI chr13:37,512,129...37,514,303
Ensembl chr13:37,512,217...37,514,257
JBrowse link
G HGH1 HGH1 homolog ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,621,587...37,624,523
Ensembl chr13:37,621,605...37,623,973
JBrowse link
G HSF1 heat shock transcription factor 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,724,741...37,745,259
Ensembl chr13:37,724,759...37,745,252
JBrowse link
G KIFC2 kinesin family member C2 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,875,611...37,883,166
Ensembl chr13:37,875,998...37,882,974
JBrowse link
G MAF1 MAF1 homolog, negative regulator of RNA polymerase III ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,598,819...37,601,713
Ensembl chr13:37,598,600...37,601,591
JBrowse link
G MROH1 maestro heat like repeat family member 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,645,810...37,698,550
Ensembl chr13:37,645,876...37,698,342
JBrowse link
G OPLAH 5-oxoprolinase, ATP-hydrolysing ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,555,035...37,564,241
Ensembl chr13:37,555,045...37,564,810
JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,449,379...37,503,752
Ensembl chr13:37,450,248...37,513,523
JBrowse link
G SCRT1 scratch family transcriptional repressor 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532
G SCX scleraxis bHLH transcription factor ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,701,781...37,704,949
Ensembl chr13:37,703,232...37,704,657
JBrowse link
G SHARPIN SHANK associated RH domain interactor ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,594,155...37,598,510
Ensembl chr13:37,594,203...37,599,456
JBrowse link
G SLC39A4 solute carrier family 39 member 4 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,833,073...37,838,304
Ensembl chr13:37,833,156...37,838,522
JBrowse link
G SLC52A2 solute carrier family 52 member 2 ISO OMIM NCBI chr13:37,779,896...37,786,653
Ensembl chr13:37,783,562...37,786,621
JBrowse link
G SPATC1 spermatogenesis and centriole associated 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,530,211...37,550,797 JBrowse link
G TMEM249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,778,698...37,780,774
Ensembl chr13:37,778,730...37,780,385
JBrowse link
G TONSL tonsoku like, DNA repair protein ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,846,010...37,857,633
Ensembl chr13:37,846,149...37,857,668
JBrowse link
G VPS28 VPS28 subunit of ESCRT-I ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chr13:37,841,524...37,845,954
Ensembl chr13:37,841,518...37,846,339
JBrowse link
Burn-McKeown syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADNP2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:600,804...635,013
Ensembl chr 1:602,264...635,348
JBrowse link
G ATP9B ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:1,136,862...1,374,102
Ensembl chr 1:1,136,865...1,374,514
JBrowse link
G CTDP1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:886,973...945,994
Ensembl chr 1:762,020...946,142
JBrowse link
G HSBP1L1 heat shock factor binding protein 1 like 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:743,321...747,401
Ensembl chr 1:744,458...747,200
JBrowse link
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 1:805,892...866,031 JBrowse link
G MBP myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:2,841,801...2,952,553
Ensembl chr 1:2,846,589...2,951,860
JBrowse link
G NFATC1 nuclear factor of activated T cells 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:1,027,021...1,121,362
Ensembl chr 1:1,028,695...1,121,588
JBrowse link
G PARD6G par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:478,310...567,728
Ensembl chr 1:497,071...565,905
JBrowse link
G RBFA ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:692,870...722,681 JBrowse link
G SALL3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:1,413,991...1,421,516
Ensembl chr 1:1,416,390...1,435,326
JBrowse link
G SLC66A2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:758,456...801,227
Ensembl chr 1:757,856...802,373
JBrowse link
G TXNL4A thioredoxin like 4A ISO OMIM NCBI chr 1:722,223...735,253
Ensembl chr 1:722,293...735,258
JBrowse link
G ZNF236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:2,959,113...3,062,349
Ensembl chr 1:2,961,498...3,061,984
JBrowse link
G ZNF516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:3,275,255...3,400,761
Ensembl chr 1:3,274,993...3,492,201
JBrowse link
camptodactyly-tall stature-scoliosis-hearing loss syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR3 fibroblast growth factor receptor 3 ISO OMIM NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
JBrowse link
CAPOS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO OMIM NCBI chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916
JBrowse link
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial ISO OMIM NCBI chr38:14,864,004...14,925,684
Ensembl chr38:14,863,998...14,925,635
JBrowse link
Charcot-Marie-Tooth disease type 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers ClinVar PMID:15241803 PMID:25741868 PMID:28492532 NCBI chr  X:55,565,995...55,575,332
Ensembl chr  X:55,573,808...55,574,659
JBrowse link
G PMP22 peripheral myelin protein 22 ISO OMIM NCBI chr 5:38,806,731...38,839,002
Ensembl chr 5:38,807,826...38,838,971
JBrowse link
Charcot-Marie-Tooth disease type 2J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPZ myelin protein zero ISO OMIM NCBI chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451
JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO OMIM NCBI chr  X:101,275,027...101,307,551
Ensembl chr  X:101,275,017...101,307,367
JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA
ClinVar Annotator: match by term: Cowchock syndrome
ClinVar PMID:3856385 PMID:20362274 PMID:20818383 PMID:22019070 PMID:23217327 PMID:23806086 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 NCBI chr  X:101,311,752...101,322,825
Ensembl chr  X:101,312,611...101,322,689
JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO OMIM NCBI chr  X:81,150,537...81,171,521
Ensembl chr  X:81,150,536...81,212,689
JBrowse link
CHIME syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIGL phosphatidylinositol glycan anchor biosynthesis class L ISO OMIM NCBI chr 5:39,601,288...39,687,125
Ensembl chr 5:39,601,291...39,686,908
JBrowse link
Chudley-Mccullough syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCC1 chloride channel CLIC like 1 ISO ClinVar Annotator: match by term: Chudley-McCullough syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:42,807,432...42,829,317
Ensembl chr 6:42,807,064...42,829,273
JBrowse link
G GPSM2 G protein signaling modulator 2 ISO OMIM NCBI chr 6:42,828,611...42,878,334
Ensembl chr 6:42,824,455...42,868,690
JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MITF melanocyte inducing transcription factor ISO OMIM NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578
JBrowse link
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 ISO OMIM NCBI chr22:46,323,263...46,402,240
Ensembl chr22:46,307,905...46,398,625
JBrowse link
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 NCBI chr 5:44,882,111...45,021,152
Ensembl chr 5:44,884,283...45,120,203
JBrowse link
Combined Pituitary Hormone Deficiency, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LHX3 LIM homeobox 3 ISO OMIM NCBI chr 9:49,248,555...49,254,128
Ensembl chr 9:49,248,621...49,254,118
JBrowse link
Conductive Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Conductive hearing loss ClinVar PMID:24033266 NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814
JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10471511 NCBI chr29:20,176,306...20,595,131
Ensembl chr29:20,177,014...20,525,653
JBrowse link
G NOG noggin ISO RGD PMID:18096605 RGD:12801451 NCBI chr 9:31,453,604...31,456,060 JBrowse link
Cone-Rod Dystrophy and Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP78 centrosomal protein 78 ISO OMIM NCBI chr 1:80,437,902...80,469,383
Ensembl chr 1:80,438,695...80,469,350
JBrowse link
Cone-Rod Dystrophy and Hearing Loss 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP250 centrosomal protein 250 ISO OMIM NCBI chr24:24,411,882...24,461,916
Ensembl chr24:24,418,859...24,461,640
JBrowse link
Congenital Cataracts, Hearing Loss, and Neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC33A1 solute carrier family 33 member 1 ISO OMIM NCBI chr23:49,522,325...49,548,004
Ensembl chr23:49,523,852...49,547,904
JBrowse link
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF3 fibroblast growth factor 3 ISO OMIM NCBI chr18:48,382,819...48,388,453
Ensembl chr18:48,383,222...48,389,009
JBrowse link
Congenital Myopathy with Neuropathy and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPTBN4 spectrin beta, non-erythrocytic 4 ISO OMIM NCBI chr 1:113,167,251...113,243,071
Ensembl chr 1:113,168,484...113,240,934
JBrowse link
corneal dystrophy-perceptive deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC4A11 solute carrier family 4 member 11 ISO OMIM NCBI chr24:18,057,437...18,068,420
Ensembl chr24:18,057,517...18,068,425
JBrowse link
craniofacial-deafness-hand syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAX3 paired box 3 ISO OMIM NCBI chr37:28,346,476...28,443,648
Ensembl chr37:28,346,563...28,444,561
JBrowse link
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VPS13B vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness ClinVar PMID:15141358 PMID:16648375 PMID:17990063 PMID:18414213 PMID:19006247 PMID:20683995 PMID:20921020 PMID:23352163 PMID:23757202 PMID:24033266 PMID:25502226 PMID:25741868 PMID:26133662 PMID:26395554 PMID:26443248 PMID:26467025 PMID:27175599 PMID:27353947 PMID:27829003 PMID:28041643 PMID:28492532 NCBI chr13:1,101,226...1,834,933
Ensembl chr13:1,101,610...1,871,225
JBrowse link
D-bifunctional protein deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 severity ISO DNA:mutations:multiple (human) OMIM
RGD
PMID:16385454 RGD:10411884 NCBI chr11:8,717,182...8,810,716
Ensembl chr11:8,717,349...8,824,594
JBrowse link
Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AK2 adenylate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19043416 NCBI chr 2:68,342,769...68,371,769
Ensembl chr 2:68,350,057...68,371,090
JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:11406631 RGD:734598 NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
JBrowse link
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 chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
JBrowse link
G BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB ISO ClinVar Annotator: match by term: Deafness ClinVar NCBI chr 2:54,654,406...54,743,443
Ensembl chr 2:54,654,481...54,740,787
JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:10929716 PMID:15357422 RGD:1300292 NCBI chr20:36,189,986...36,488,460
Ensembl chr20:36,191,810...36,613,686
JBrowse link
G CDC14A cell division cycle 14A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29293958 NCBI chr 6:49,429,675...49,678,376
Ensembl chr 6:49,497,939...49,693,665
JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Deafness ClinVar NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
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 chr31:31,677,410...31,725,794
Ensembl chr31:31,677,733...31,678,446
JBrowse link
G COCH cochlin susceptibility ISO deafness, autosomal dominant nonsyndromic sensorineural 9, OMIM:9601369;DNA:missense mutations RGD PMID:9806553 RGD:1600878 NCBI chr 8:10,215,101...10,230,017
Ensembl chr 8:10,214,536...10,233,550
JBrowse link
G CRYM crystallin mu ISO DNA:missense mutation:cds:p.K314T (human) RGD PMID:12471561 RGD:734836 NCBI chr 6:24,187,073...24,204,304
Ensembl chr 6:24,187,121...24,204,304
JBrowse link
G EPS8 epidermal growth factor receptor pathway substrate 8 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:24033266 NCBI chr27:30,893,884...31,070,401
Ensembl chr27:30,893,713...31,069,770
JBrowse link
G ESPN espin ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:10975527 PMID:15286153 PMID:15930085 RGD:734943 NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676
JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:19293293 RGD:8553051 NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691
JBrowse link
G GJB1 gap junction protein beta 1 treatment ISO RGD PMID:21813206 RGD:7364894 NCBI chr  X:55,565,995...55,575,332
Ensembl chr  X:55,573,808...55,574,659
JBrowse link
G GJB2 gap junction protein beta 2 ISO