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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
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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
 xref: EFO:0004238


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 ABHD12 abhydrolase domain containing 12, lysophospholipase IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28492532 PMID:30311386 NCBI chr20:25,294,743...25,390,835
Ensembl chr20:25,294,742...25,390,835 		JBrowse link
G ACTG1 actin gamma 1 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:19477959 PMID:20301607 PMID:24033266 PMID:25741868 PMID:25792668 More... NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847 		JBrowse link
G ADGRV1 adhesion G protein-coupled receptor V1 IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:19357117 PMID:22135276 PMID:22147658 PMID:24033266 PMID:25741868 More... NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437 		JBrowse link
G AL049830.3 novel transcript, antisense to COCH IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Hereditary hearing loss and deafness 		ClinVar PMID:9806553 PMID:9931344 PMID:10400989 PMID:11332404 PMID:16151338 More... NCBI chr14:30,876,179...30,889,808
Ensembl chr14:30,876,179...30,889,808 		JBrowse link
G AL353784.1 novel transcript, antisense to PCDH15 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar NCBI chr10:54,486,230...54,656,051
Ensembl chr10:54,486,230...54,656,051 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:17594715 PMID:24462884 PMID:25296579 PMID:25741868 PMID:26066530 More... NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G ANAPC15 anaphase promoting complex subunit 15 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:25741868 NCBI chr11:72,106,372...72,112,780
Ensembl chr11:72,106,378...72,112,780 		JBrowse link
G ANKRD36 ankyrin repeat domain 36 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar NCBI chr 2:97,113,153...97,264,521
Ensembl chr 2:97,113,153...97,264,521 		JBrowse link
G APOE apolipoprotein E EXP CTD Direct Evidence: marker/mechanism CTD PMID:19738398 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G ARC activity regulated cytoskeleton associated protein treatment ISO
IDA 		mRNA:decreased expression:auditory cortex: RGD PMID:18524887 PMID:18607918 RGD:8655535, RGD:8655538 NCBI chr 8:142,611,049...142,614,479
Ensembl chr 8:142,611,049...142,614,479 		JBrowse link
G ATOH1 atonal bHLH transcription factor 1 IAGP ClinVar Annotator: match by term: Hearing loss ClinVar PMID:25741868 NCBI chr 4:93,828,753...93,830,964
Ensembl chr 4:93,828,753...93,830,964 		JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr 3:10,324,023...10,708,007
Ensembl chr 3:10,324,023...10,708,007 		JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:9916796 PMID:16769747 PMID:18368028 PMID:24033266 PMID:25741868 More... NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431 		JBrowse link
G B3GNT4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28492532 PMID:30311386 NCBI chr12:122,203,709...122,208,952
Ensembl chr12:122,203,681...122,208,952 		JBrowse link
G BARHL1 BarH like homeobox 1 ISO RGD PMID:12091321 RGD:14390166 NCBI chr 9:132,582,606...132,590,252
Ensembl chr 9:132,582,606...132,590,252 		JBrowse link
G BCL2L1 BCL2 like 1 EXP CTD Direct Evidence: therapeutic CTD PMID:17697574 NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989 		JBrowse link
G BDNF brain derived neurotrophic factor ISO mRNA:increased expression:cochlea: RGD PMID:18524887 RGD:8655535 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058 		JBrowse link
G BDP1 BDP1 general transcription factor IIIB subunit IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr 5:71,455,651...71,578,288
Ensembl chr 5:71,455,651...71,567,820 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28492532 PMID:30872814 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:17275231 RGD:8698665 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:668580 PMID:1446381 PMID:9536098 PMID:17576681 PMID:19530235 More... NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BSND barttin CLCNK type accessory subunit beta IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:11687798 PMID:11734858 PMID:12574213 PMID:16328537 PMID:16572343 More... NCBI chr 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172 		JBrowse link
G C10orf105 chromosome 10 open reading frame 105 IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:11090341 PMID:11138009 PMID:16679490 PMID:21940737 PMID:25741868 More... NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824 		JBrowse link
G CABP2 calcium binding protein 2 IAGP ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:9536098 PMID:17576681 PMID:22981119 PMID:25741868 PMID:28492532 More... NCBI chr11:67,518,912...67,523,446
Ensembl chr11:67,518,912...67,524,517 		JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:16199547 PMID:28492532 PMID:30311386 NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733 		JBrowse link
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27798183 NCBI chr 3:50,362,613...50,504,244
Ensembl chr 3:50,362,613...50,504,244 		JBrowse link
G CATSPER2 cation channel sperm associated 2 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar NCBI chr15:43,628,503...43,648,884
Ensembl chr15:43,628,503...43,668,118 		JBrowse link
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:8894709 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 More... NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr19:44,699,151...44,710,718
Ensembl chr19:44,699,151...44,710,718 		JBrowse link
G CEACAM16-AS1 CEACAM16, CEACAM19 and PVR antisense RNA 1 IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr19:44,699,038...44,725,184
Ensembl chr19:44,608,568...44,725,315 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CHSY1 chondroitin sulfate synthase 1 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30872814 NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048 		JBrowse link
G CIB2 calcium and integrin binding family member 2 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment 		ClinVar PMID:2911222 PMID:23023331 PMID:24033266 PMID:25741868 PMID:26173970 More... NCBI chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535 		JBrowse link
G CKMT1A creatine kinase, mitochondrial 1A IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar NCBI chr15:43,692,786...43,699,222
Ensembl chr15:43,692,886...43,699,222
Ensembl chr15:43,692,886...43,699,222 		JBrowse link
G CKMT1B creatine kinase, mitochondrial 1B IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar NCBI chr15:43,592,857...43,599,406
Ensembl chr15:43,593,054...43,604,901
Ensembl chr15:43,593,054...43,604,901 		JBrowse link
G CLCC1 chloride channel CLIC like 1 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment 		ClinVar PMID:24033266 PMID:30311386 NCBI chr 1:108,929,505...108,963,484
Ensembl chr 1:108,881,885...108,963,527 		JBrowse link
G CLCNKA chloride voltage-gated channel Ka IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:30303587 NCBI chr 1:16,022,036...16,034,050
Ensembl chr 1:16,018,875...16,034,050 		JBrowse link
G CLDN14 claudin 14 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:11163249 PMID:15880785 PMID:22246673 PMID:23235333 PMID:25741868 More... NCBI chr21:36,460,621...36,576,569
Ensembl chr21:36,460,621...36,576,569 		JBrowse link
G CLDN14-AS1 CLDN14 antisense RNA 1 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:11163249 PMID:15880785 PMID:22246673 PMID:23235333 PMID:25741868 More... NCBI chr21:36,430,325...36,498,526 JBrowse link
G CLDN9 claudin 9 IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Hearing loss 		ClinVar PMID:25741868 PMID:30311386 PMID:31175426 PMID:34265170 NCBI chr16:3,012,923...3,014,505
Ensembl chr16:3,012,923...3,014,505 		JBrowse link
G CLIC5 chloride intracellular channel 5 IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:30311386 NCBI chr 6:45,880,827...46,129,819
Ensembl chr 6:45,880,827...46,080,348 		JBrowse link
G CLRN1 clarin 1 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:11524702 PMID:12145752 PMID:19753315 PMID:20717163 PMID:22681893 More... NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,727 		JBrowse link
G CLRN1-AS1 CLRN1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr 3:150,972,678...151,080,726
Ensembl chr 3:150,852,484...151,080,726 		JBrowse link
G COCH cochlin IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Hereditary hearing loss and deafness 		ClinVar PMID:9806553 PMID:9931344 PMID:10400989 PMID:11332404 PMID:16151338 More... NCBI chr14:30,874,559...30,895,615
Ensembl chr14:30,874,514...30,895,065 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:30311386 PMID:33169910 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:9536098 PMID:16033917 PMID:17576681 PMID:24033266 PMID:25633957 More... NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:26626311 PMID:28492532 PMID:30311386 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain IAGP ClinVar Annotator: match by term: Hereditary hearing loss and deafness
ClinVar Annotator: match by term: Hearing impairment 		ClinVar PMID:7987301 PMID:9269635 PMID:11044206 PMID:11134255 PMID:11961012 More... NCBI chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792 		JBrowse link
G COL4A4 collagen type IV alpha 4 chain IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:12028435 PMID:16467446 PMID:17396119 PMID:17942953 PMID:24033287 More... NCBI chr 2:226,967,360...227,164,488
Ensembl chr 2:227,002,714...227,164,453 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:8406498 PMID:8455372 PMID:9536098 PMID:10094548 PMID:11462238 More... NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545 		JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:24036952 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28492532 PMID:30311386 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159 		JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO mRNA, protein:altered expression:cochlea RGD PMID:24781382 RGD:9491762 NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044 		JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO mRNA, protein:increased expression:cochlea RGD PMID:24781382 RGD:9491762 NCBI chr 3:39,263,494...39,292,966
Ensembl chr 3:39,263,495...39,281,735 		JBrowse link
G DIABLO diablo IAP-binding mitochondrial protein IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28492532 PMID:30311386 NCBI chr12:122,207,662...122,227,456
Ensembl chr12:122,207,668...122,226,062 		JBrowse link
G DIAPH1 diaphanous related formin 1 IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed 		ClinVar PMID:24033266 PMID:24781755 PMID:25741868 PMID:26463574 PMID:28492532 More... NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		JBrowse link
G DIAPH3 diaphanous related formin 3 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr13:59,665,583...60,163,928
Ensembl chr13:59,665,583...60,163,928 		JBrowse link
G DIAPH3-AS1 DIAPH3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 NCBI chr13:60,012,718...60,044,357
Ensembl chr13:60,012,709...60,044,357 		JBrowse link
G DMXL2 Dmx like 2 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833 		JBrowse link
G DNMT1 DNA methyltransferase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21532572 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286 		JBrowse link
G DSPP dentin sialophosphoprotein IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873 		JBrowse link
G EDNRB endothelin receptor type B IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:14633923 PMID:16944573 PMID:17554617 PMID:18162831 PMID:20127975 More... NCBI chr13:77,895,487...77,975,527
Ensembl chr13:77,895,481...77,975,529 		JBrowse link
G EDNRB-AS1 EDNRB antisense RNA 1 IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:14633923 PMID:16944573 PMID:17554617 PMID:18162831 PMID:20127975 More... NCBI chr13:77,818,937...77,908,442
Ensembl chr13:77,779,723...77,908,445 		JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 IAGP associated with mandibulofacial dysostosis, Guion-Almeida type;DNA:mutations:cds:multiple RGD PMID:24470203 RGD:155791662 NCBI chr17:44,849,948...44,899,445
Ensembl chr17:44,849,948...44,899,445 		JBrowse link
G EPS8 EGFR pathway substrate 8, signaling adaptor IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:25741868 PMID:30303587 NCBI chr12:15,620,134...15,789,388
Ensembl chr12:15,620,134...15,882,329 		JBrowse link
G ERAL1 Era like 12S mitochondrial rRNA chaperone 1 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar NCBI chr17:28,855,016...28,861,061
Ensembl chr17:28,855,010...28,861,061 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:25440059 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ESPN espin IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:30303587 NCBI chr 1:6,424,776...6,461,370
Ensembl chr 1:6,424,776...6,461,367 		JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:18317592 RGD:8553063 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		JBrowse link
G ESRRB estrogen related receptor beta IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment 		ClinVar PMID:23967202 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 More... NCBI chr14:76,310,777...76,501,837
Ensembl chr14:76,310,712...76,501,837 		JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:23552953 PMID:24033266 PMID:25741868 PMID:26667035 PMID:28492532 More... NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025 		JBrowse link
G EYA4 EYA transcriptional coactivator and phosphatase 4 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:24033266 PMID:28492532 PMID:30311386 NCBI chr 6:133,240,593...133,532,128
Ensembl chr 6:133,240,514...133,532,128 		JBrowse link
G FOXC1 forkhead box C1 IAGP associated with Axenfeld-Rieger Syndrome;DNA:deletion:cds:437-453del17(human) RGD PMID:17653043 RGD:12904051 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897 		JBrowse link
G FOXI1 forkhead box I1 IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed 		ClinVar PMID:25741868 PMID:30311386 NCBI chr 5:170,105,897...170,109,737
Ensembl chr 5:170,105,897...170,109,734 		JBrowse link
G GATA3 GATA binding protein 3 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198 		JBrowse link
G GIPC3 GIPC PDZ domain containing family member 3 IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:30303587 PMID:30311386 PMID:32682410 NCBI chr19:3,585,478...3,593,541
Ensembl chr19:3,585,478...3,593,541 		JBrowse link
G GJA1 gap junction protein alpha 1 no_association IAGP DNA:polymorphisms RGD PMID:12791041 RGD:8662384 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP DNA:deletion: :c.35delG(human)
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing loss
ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
DNA:mutation:cds:p.V37I(human)
DNA:dels,polymorphism:cds:c.235delC,c.35delG,c.585G>C(human) 		ClinVar
RGD		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... RGD:7364794, RGD:7364893, RGD:7364886, RGD:7364810 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB3 gap junction protein beta 3 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment 		ClinVar PMID:10587579 PMID:11309368 PMID:12165562 PMID:15276679 PMID:19050930 More... NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369 		JBrowse link
G GJB6 gap junction protein beta 6 IAGP
ISO
IDA 		ClinVar Annotator: match by term: Hearing impairment
p.T5M(human) 		ClinVar
RGD		 PMID:30311386 PMID:19173109 PMID:12490528 PMID:20858605 RGD:7364893, RGD:7364899, RGD:7364895 NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365 		JBrowse link
G GOSR2 golgi SNAP receptor complex member 2 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:35802133 PMID:37074134 NCBI chr17:46,923,160...46,975,890
Ensembl chr17:46,923,075...46,975,524 		JBrowse link
G GPR156 G protein-coupled receptor 156 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:37814107 NCBI chr 3:120,165,478...120,285,222
Ensembl chr 3:120,164,645...120,285,222 		JBrowse link
G GPSM2 G protein signaling modulator 2 IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:20602914 PMID:22578326 PMID:24033266 PMID:25741868 PMID:30303587 More... NCBI chr 1:108,876,985...108,934,545
Ensembl chr 1:108,875,350...108,934,545 		JBrowse link
G GRHL2 grainyhead like transcription factor 2 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr 8:101,492,439...101,681,200
Ensembl chr 8:101,492,439...101,669,726 		JBrowse link
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment 		ClinVar PMID:20137778 PMID:24033266 PMID:25802247 PMID:28492532 PMID:30303587 More... NCBI chr 4:42,892,713...43,030,658
Ensembl chr 4:42,892,713...43,030,658 		JBrowse link
G GRXCR2 glutaredoxin and cysteine rich domain containing 2 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar NCBI chr 5:145,857,670...145,931,673
Ensembl chr 5:145,858,521...145,937,126 		JBrowse link
G GSDME gasdermin E EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed
ClinVar Annotator: match by term: Hearing impairment 		CTD
ClinVar		 PMID:21782914 PMID:28492532 PMID:30311386 NCBI chr 7:24,698,355...24,795,539
Ensembl chr 7:24,698,355...24,757,940 		JBrowse link
G HGF hepatocyte growth factor IDA
IAGP 		ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed 		ClinVar
RGD		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 More... RGD:8548550 NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438 		JBrowse link
G HOXA2 homeobox A2 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 NCBI chr 7:27,100,354...27,102,683
Ensembl chr 7:27,100,354...27,102,686 		JBrowse link
G IL10 interleukin 10 treatment ISO associated with Meningitis, Pneumococcal
associated with Autoimmune Diseases 		RGD PMID:22644021 PMID:21697956 RGD:7364829, RGD:7364842 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:15641023 PMID:21255762 PMID:24033266 PMID:25741868 PMID:27610647 More... NCBI chr 3:121,987,323...122,061,655
Ensembl chr 3:121,987,323...122,022,247 		JBrowse link
G KARS1 lysyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:23596069 PMID:24033266 PMID:25356970 PMID:25741868 PMID:26467025 More... NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 IAGP ClinVar Annotator: match by term: Hereditary hearing loss and deafness ClinVar NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed 		ClinVar PMID:25741868 PMID:26467025 PMID:27171548 PMID:28492532 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:19716085 PMID:23788249 PMID:25525159 PMID:25741868 PMID:27707468 More... NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G KCNQ4 potassium voltage-gated channel subfamily Q member 4 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 1:40,783,787...40,840,452
Ensembl chr 1:40,783,787...40,840,452 		JBrowse link
G LHFPL5 LHFPL tetraspan subfamily member 5 IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:16459341 PMID:25741868 PMID:28492532 PMID:30177809 PMID:30298622 More... NCBI chr 6:35,805,352...35,824,070
Ensembl chr 6:35,797,206...35,845,397 		JBrowse link
G LIPT1 lipoyltransferase 1 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:27247813 PMID:28492532 NCBI chr 2:99,154,967...99,163,137
Ensembl chr 2:99,154,955...99,163,157 		JBrowse link
G LMX1A LIM homeobox transcription factor 1 alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:29971487 NCBI chr 1:165,201,867...165,356,715
Ensembl chr 1:165,201,867...165,356,715 		JBrowse link
G LOC105371566 uncharacterized LOC105371566 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar NCBI chr17:18,107,691...18,117,561 JBrowse link
G LOC106501712 CLCNKA recombination region IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:30303587 NCBI chr 1:16,023,929...16,036,205 JBrowse link
G LOC111982869 Sharpr-MPRA regulatory region 2121 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:19888295 PMID:21917145 PMID:24006325 PMID:24033266 PMID:25741868 More... NCBI chr10:71,805,832...71,806,126 JBrowse link
G LOC122152296 OCT4-NANOG hESC enhancer GRCh37_chr1:216419825-216420431 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:15241801 PMID:16098008 PMID:16963483 PMID:19683999 PMID:22004887 More... NCBI chr 1:216,246,483...216,247,089 JBrowse link
G LOC123956210 Sharpr-MPRA regulatory region 3291 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:16283880 PMID:17125574 PMID:20301640 PMID:23638949 PMID:24224479 More... NCBI chr 7:107,709,864...107,710,158 JBrowse link
G LOC126805814 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:103344928-103346127 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:30311386 NCBI chr 1:102,879,372...102,880,571 JBrowse link
G LOC126806252 BRD4-independent group 4 enhancer GRCh37_chr2:73828496-73829695 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 2:73,601,029...73,602,568 JBrowse link
G LOC126806529 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:223084735-223085934 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:24033266 PMID:28492532 PMID:30311386 NCBI chr 2:222,220,016...222,221,215 JBrowse link
G LOC126860740 CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:117797665-117798864 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr 9:115,035,386...115,036,585 JBrowse link
G LOC126861365 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:121000154-121001353 IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:11087000 PMID:12746400 PMID:17431902 PMID:24130743 PMID:28492532 More... NCBI chr11:121,129,445...121,130,644 JBrowse link
G LOC126862402 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:75663368-75664567 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr16:75,629,470...75,630,669 JBrowse link
G LOC126862526 BRD4-independent group 4 enhancer GRCh37_chr17:27185111-27186310 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar NCBI chr17:28,858,093...28,859,292 JBrowse link
G LOC126863084 MED14-independent group 3 enhancer GRCh37_chr20:61467141-61468340 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28492532 PMID:30311386 NCBI chr20:62,835,789...62,836,988 JBrowse link
G LOC126863145 CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:38150829-38152028 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr22:37,754,822...37,756,021 JBrowse link
G LOC127814297 RBM27-POU4F3 IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:28492532 PMID:30303587 PMID:30311386 NCBI chr 5:146,203,605...146,341,728 JBrowse link
G LOC129931687 ATAC-STARR-seq lymphoblastoid silent region 1457 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed ClinVar NCBI chr 1:160,070,122...160,070,351 JBrowse link
G LOC129996737 ATAC-STARR-seq lymphoblastoid silent region 17342 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar NCBI chr 6:75,749,046...75,749,215 JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment 		ClinVar PMID:16199547 PMID:19732867 PMID:21465660 PMID:22341973 PMID:23804846 More... NCBI chr18:46,476,961...46,657,220
Ensembl chr18:46,476,972...46,657,220 		JBrowse link
G LRP2 LDL receptor related protein 2 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534 		JBrowse link
G LRRC37A2 leucine rich repeat containing 37 member A2 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:35802133 PMID:37074134 NCBI chr17:46,372,792...47,049,128
Ensembl chr17:46,511,508...46,556,910 		JBrowse link
G LRRC51 leucine rich repeat containing 51 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar NCBI chr11:72,080,850...72,096,895
Ensembl chr11:72,080,337...72,096,895 		JBrowse link
G LRTOMT leucine rich transmembrane and O-methyltransferase domain containing IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment 		ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:27260575 PMID:28492532 More... NCBI chr11:72,080,850...72,110,782
Ensembl chr11:72,080,331...72,110,782 		JBrowse link
G MANBA mannosidase beta IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:2079835 PMID:9384606 PMID:12468273 PMID:16199547 PMID:18565776 More... NCBI chr 4:102,630,770...102,760,968
Ensembl chr 4:102,630,770...102,760,994 		JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:28492532 PMID:30311386 PMID:30872814 NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152 		JBrowse link
G MARVELD2 MARVEL domain containing 2 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment 		ClinVar PMID:16199547 PMID:17186462 PMID:18084694 PMID:22097895 PMID:24033266 More... NCBI chr 5:69,415,116...69,444,330
Ensembl chr 5:69,415,065...69,444,330 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:11007980 PMID:11071498 PMID:11309367 PMID:11772708 PMID:11805248 More... NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G MFF-DT MFF divergent transcript IAGP ClinVar Annotator: match by term: Hereditary hearing loss and deafness
ClinVar Annotator: match by term: Hearing impairment 		ClinVar PMID:7987301 PMID:9269635 PMID:11044206 PMID:11134255 PMID:11961012 More... NCBI chr 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711 		JBrowse link
G MIR96 microRNA 96 EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hearing impairment 		CTD
ClinVar		 PMID:19363478 PMID:19363479 PMID:30311386 NCBI chr 7:129,774,692...129,774,769
Ensembl chr 7:129,774,692...129,774,769 		JBrowse link
G MITD1 microtubule interacting and trafficking domain containing 1 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:27247813 PMID:28492532 NCBI chr 2:99,161,427...99,181,058
Ensembl chr 2:99,161,427...99,181,058 		JBrowse link
G MITF melanocyte inducing transcription factor IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:8659547 PMID:9856573 PMID:25741868 NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336 		JBrowse link
G MPZL2 myelin protein zero like 2 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:25741868 PMID:28492532 PMID:29961571 PMID:29982980 PMID:30311386 NCBI chr11:118,253,416...118,264,297
Ensembl chr11:118,253,416...118,264,536 		JBrowse link
G MSRB3 methionine sulfoxide reductase B3 IAGP
EXP 		ClinVar Annotator: match by term: Hearing loss
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:19650862 PMID:21185009 PMID:21782914 PMID:24033266 PMID:25741868 More... NCBI chr12:65,278,683...65,466,907
Ensembl chr12:65,278,643...65,491,430 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28027978 NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28027978 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28027978 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:SNP:cds:677C>T(human) RGD PMID:21385350 RGD:7387225 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility IAGP DNA:SNP::2756A>G(human) RGD PMID:21385350 RGD:7387225 NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278 		JBrowse link
G MYH14 myosin heavy chain 14 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:24033266 PMID:25741868 PMID:27393652 PMID:28492532 PMID:29293505 More... NCBI chr19:50,203,622...50,310,540
Ensembl chr19:50,188,186...50,310,542 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:18059020 PMID:24033266 PMID:28492532 PMID:30311386 PMID:30872814 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G MYO15A myosin XVA IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:2574186 PMID:7616538 PMID:7704031 PMID:9536098 PMID:16199547 More... NCBI chr17:18,108,756...18,179,800
Ensembl chr17:18,108,756...18,179,802 		JBrowse link
G MYO3A myosin IIIA IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 PMID:36147510 More... NCBI chr10:25,934,229...26,212,532
Ensembl chr10:25,934,229...26,212,532 		JBrowse link
G MYO6 myosin VI IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:9536098 PMID:12687499 PMID:17576681 PMID:18348273 PMID:21078986 More... NCBI chr 6:75,749,239...75,919,537
Ensembl chr 6:75,749,201...75,919,537 		JBrowse link
G MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing loss
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:8900236 PMID:9259201 PMID:10094549 PMID:10425080 PMID:10447383 More... NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G NDP norrin cystine knot growth factor NDP IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:14635119 PMID:25741868 PMID:28492532 PMID:30311386 PMID:31456290 More... NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395 		JBrowse link
G NDP-AS1 NDP antisense RNA 1 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:14635119 PMID:25741868 PMID:28492532 PMID:30311386 PMID:31456290 More... NCBI chr  X:43,949,732...43,971,552
Ensembl chr  X:43,949,732...43,971,582 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:28492532 PMID:29922587 PMID:30311386 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		JBrowse link
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
G NTF3 neurotrophin 3 EXP CTD Direct Evidence: therapeutic CTD PMID:18024279 NCBI chr12:5,430,332...5,495,299
Ensembl chr12:5,432,108...5,521,536 		JBrowse link
G OTOA otoancorin IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:23173898 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 More... NCBI chr16:21,663,968...21,760,729
Ensembl chr16:21,663,968...21,761,935 		JBrowse link
G OTOF otoferlin IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:12525542 PMID:14635104 PMID:18381613 PMID:19250381 PMID:19461658 More... NCBI chr 2:26,457,203...26,558,756
Ensembl chr 2:26,457,203...26,558,756 		JBrowse link
G OTOG otogelin IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing loss 		ClinVar PMID:24033266 PMID:28492532 PMID:30303587 PMID:30311386 PMID:32048449 NCBI chr11:17,547,259...17,646,044
Ensembl chr11:17,547,259...17,647,150 		JBrowse link
G OTOGL otogelin like IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment 		ClinVar PMID:24033266 PMID:28492532 PMID:30311386 NCBI chr12:80,099,537...80,380,880
Ensembl chr12:80,099,537...80,380,880 		JBrowse link
G OXR1 oxidation resistance 1 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:36130215 NCBI chr 8:106,270,178...106,752,694
Ensembl chr 8:106,270,144...106,752,694 		JBrowse link
G PAX3 paired box 3 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:24033266 PMID:28492532 PMID:30311386 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G PCDH15 protocadherin related 15 EXP
IAGP 		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: Nonsyndromic Hearing Loss, Recessive 		CTD
ClinVar		 PMID:24033266 PMID:25468891 PMID:25741868 PMID:28492532 PMID:30029624 More... NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942 		JBrowse link
G PDE5A phosphodiesterase 5A treatment ISO RGD PMID:22270721 RGD:7775056 NCBI chr 4:119,494,403...119,628,804
Ensembl chr 4:119,494,397...119,628,804 		JBrowse link
G PDZD7 PDZ domain containing 7 IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:9536098 PMID:17576681 PMID:20440071 PMID:25741868 PMID:28492532 More... NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295 		JBrowse link
G PJVK pejvakin IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:17301963 PMID:17718875 PMID:19888295 PMID:21696384 PMID:24033266 More... NCBI chr 2:178,451,378...178,462,102
Ensembl chr 2:178,451,346...178,462,102 		JBrowse link
G PLS1 plastin 1 IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Hereditary hearing loss and deafness 		ClinVar PMID:25741868 PMID:30872814 PMID:31397523 PMID:31432506 NCBI chr 3:142,596,393...142,713,664
Ensembl chr 3:142,596,393...142,713,664 		JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:610060 PMID:22855961 PMID:25741868 PMID:26151409 PMID:28492532 More... NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
G POLR1D RNA polymerase I and III subunit D IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237 		JBrowse link
G POLR2F RNA polymerase II, I and III subunit F IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:17999358 PMID:20127975 PMID:26467025 PMID:27240497 PMID:28492532 More... NCBI chr22:37,953,663...38,041,915
Ensembl chr22:37,952,607...38,041,915 		JBrowse link
G POU3F4 POU class 3 homeobox 4 IAGP ClinVar Annotator: match by term: X-linked nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr  X:83,508,290...83,512,127
Ensembl chr  X:83,508,290...83,512,127 		JBrowse link
G POU4F3 POU class 4 homeobox 3 IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:28492532 PMID:30303587 PMID:30311386 NCBI chr 5:146,338,839...146,341,728
Ensembl chr 5:146,338,839...146,341,728 		JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 ISO RGD PMID:22270721 RGD:7775056 NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP ClinVar Annotator: match by term: X-linked nonsyndromic hearing loss ClinVar NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993 		JBrowse link
G PSAP prosaposin IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:25741868 PMID:30303587 PMID:30311386 NCBI chr12:80,444,235...80,680,273
Ensembl chr12:80,402,178...80,680,273 		JBrowse link
G PTPRS protein tyrosine phosphatase receptor type S IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30872814 NCBI chr19:5,205,508...5,340,812
Ensembl chr19:5,158,495...5,340,812 		JBrowse link
G RDX radixin IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:25741868 PMID:30311386 NCBI chr11:110,174,922...110,296,614
Ensembl chr11:109,864,295...110,296,712 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:12920075 NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544 		JBrowse link
G SEMA3F semaphorin 3F IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr 3:50,155,058...50,189,075
Ensembl chr 3:50,155,045...50,189,075 		JBrowse link
G SERPINB6 serpin family B member 6 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr 6:2,948,159...2,971,793
Ensembl chr 6:2,948,159...2,972,165 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP ClinVar Annotator: match by term: Hereditary hearing loss and deafness ClinVar PMID:25741868 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
G SH3PXD2B SH3 and PX domains 2B EXP CTD Direct Evidence: marker/mechanism CTD PMID:19669234 NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525 		JBrowse link
G SIX1 SIX homeobox 1 IAGP
ISO 		DNA:mutation:cds:c.373G >A(p.E125K)(human)
ClinVar Annotator: match by term: Hearing impairment
DNA:missense mutation:cds:p.E121G (mouse) 		ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:30311386 PMID:34906515 PMID:15141091 More... RGD:8554876, RGD:8554879 NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259 		JBrowse link
G SLC12A2 solute carrier family 12 member 2 IAGP ClinVar Annotator: match by term: Hearing loss ClinVar PMID:25741868 PMID:28492532 PMID:32294086 PMID:32658972 NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677 		JBrowse link
G SLC22A4 solute carrier family 22 member 4 IAGP ClinVar Annotator: match by term: Hereditary hearing loss and deafness ClinVar PMID:27023905 PMID:28492532 PMID:33643381 PMID:34194829 NCBI chr 5:132,294,394...132,344,190
Ensembl chr 5:132,294,394...132,344,190 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing loss 		CTD
ClinVar		 PMID:9070918 PMID:9398842 PMID:9500541 PMID:9536098 PMID:9618166 More... NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809 		JBrowse link
G SLC26A4-AS1 SLC26A4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:17503324 PMID:18322141 PMID:19204907 PMID:19287372 PMID:19787632 More... NCBI chr 7:107,656,516...107,661,798
Ensembl chr 7:107,650,260...107,662,204 		JBrowse link
G SLC26A5 solute carrier family 26 member 5 no_association ISO
EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
DNA:snp:intron:IVS2-2A>G (human) 		CTD
ClinVar
RGD		 PMID:30311386 PMID:34273409 PMID:15319415 PMID:16086836 PMID:12719379 RGD:9479049, RGD:9479051, RGD:9479050 NCBI chr 7:103,352,730...103,446,207
Ensembl chr 7:103,352,730...103,446,207 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20140240 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SLC33A1 solute carrier family 33 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22243965 NCBI chr 3:155,821,024...155,854,427
Ensembl chr 3:155,821,024...155,854,456 		JBrowse link
G SLITRK6 SLIT and NTRK like family member 6 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:24033266 PMID:28492532 PMID:30311386 NCBI chr13:85,792,790...85,799,419
Ensembl chr13:85,792,790...85,806,683 		JBrowse link
G SMPX small muscle protein X-linked IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr  X:21,705,978...21,758,116
Ensembl chr  X:21,705,978...21,758,116 		JBrowse link
G SOD1 superoxide dismutase 1 ISO
EXP 		CTD Direct Evidence: therapeutic CTD
RGD		 PMID:11474137 PMID:16055286 RGD:1581213 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:17999358 PMID:20127975 PMID:26467025 PMID:27240497 PMID:28492532 More... NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G SPNS2 SPNS lysolipid transporter 2, sphingosine-1-phosphate IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr17:4,498,881...4,539,035
Ensembl chr17:4,498,881...4,539,035 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20712533 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G STRC stereocilin IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:30311386 NCBI chr15:43,599,563...43,618,800
Ensembl chr15:43,599,563...43,618,800 		JBrowse link
G TARID TCF21 antisense RNA inducing promoter demethylation IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28492532 PMID:30311386 NCBI chr 6:133,502,252...133,889,006
Ensembl chr 6:133,485,013...133,953,083 		JBrowse link
G TBCEL-TECTA TBCEL-TECTA readthrough IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:11087000 PMID:12746400 PMID:17431902 PMID:21520338 PMID:24033266 More... NCBI chr11:121,024,102...121,191,490
Ensembl chr11:121,024,125...121,113,108 		JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308 		JBrowse link
G TECTA tectorin alpha IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:11087000 PMID:12746400 PMID:17431902 PMID:21520338 PMID:24033266 More... NCBI chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490 		JBrowse link
G THBS1 thrombospondin 1 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 NCBI chr15:39,581,079...39,599,466
Ensembl chr15:39,581,079...39,599,466 		JBrowse link
G TJP2 tight junction protein 2 EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hearing impairment 		CTD
ClinVar		 PMID:21782914 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 9:69,121,264...69,255,208
Ensembl chr 9:69,121,264...69,274,615 		JBrowse link
G TLR2 toll like receptor 2 susceptibility IAGP associated with Meningitis,Bacterial; DNA:haplotype: :2477G>A(rs5743708)(human) RGD PMID:22662111 RGD:7800663 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260 		JBrowse link
G TLR4 toll like receptor 4 susceptibility IAGP
EXP 		associated with Meningitis,Bacterial; DNA:SNP,haplotype: :896A>G(rs4986790)(human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:21148032 PMID:22662111 RGD:7800663 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TLR9 toll like receptor 9 IAGP associated with Meningitis,Bacterial; DNA:SNP: :-1237T>C(rs5743836)(human) RGD PMID:22662111 RGD:7800663 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645 		JBrowse link
G TMC1 transmembrane channel like 1 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:11850618 PMID:16134132 PMID:16199547 PMID:16287143 PMID:17877751 More... NCBI chr 9:72,521,608...72,838,297
Ensembl chr 9:72,521,608...72,838,297 		JBrowse link
G TMIE transmembrane inner ear IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:28492532 More... NCBI chr 3:46,693,778...46,710,886
Ensembl chr 3:46,694,528...46,710,886 		JBrowse link
G TMPRSS3 transmembrane serine protease 3 IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:11137999 PMID:11424922 PMID:11462234 PMID:11907649 PMID:12920079 More... NCBI chr21:42,371,890...42,396,052
Ensembl chr21:42,371,887...42,396,091 		JBrowse link
G TNC tenascin C IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr 9:115,019,575...115,118,157
Ensembl chr 9:115,019,575...115,118,207 		JBrowse link
G TNF tumor necrosis factor ISO associated with Cytomegalovirus Infections;protein:increased expression:scala tympani: RGD PMID:22001951 RGD:7394702 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TOGARAM2 TOG array regulator of axonemal microtubules 2 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:20642360 PMID:38374469 NCBI chr 2:28,956,518...29,052,230
Ensembl chr 2:28,956,611...29,052,230 		JBrowse link
G TOMT transmembrane O-methyltransferase IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:27260575 PMID:28492532 PMID:30311386 NCBI chr11:72,105,924...72,109,596
Ensembl chr11:72,105,924...72,109,596 		JBrowse link
G TPRN taperin IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:20170899 PMID:28492532 PMID:30303587 PMID:30311386 NCBI chr 9:137,191,619...137,200,741
Ensembl chr 9:137,191,617...137,204,193 		JBrowse link
G TRIOBP TRIO and F-actin binding protein IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:16385457 PMID:16385458 PMID:20510926 PMID:24033266 PMID:25741868 More... NCBI chr22:37,697,048...37,776,556
Ensembl chr22:37,697,048...37,776,556 		JBrowse link
G TSPEAR thrombospondin type laminin G domain and EAR repeats IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr21:44,497,893...44,711,572
Ensembl chr21:44,497,893...44,711,572 		JBrowse link
G TYR tyrosinase IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:1429711 PMID:1642278 PMID:1903591 PMID:5516239 PMID:9242509 More... NCBI chr11:89,177,875...89,295,759
Ensembl chr11:89,177,875...89,295,759 		JBrowse link
G UCP2 uncoupling protein 2 ISO mRNA, protein:increased expression:cochlea (rat) RGD PMID:22543089 RGD:10045653 NCBI chr11:73,974,672...73,983,202
Ensembl chr11:73,974,061...73,982,843 		JBrowse link
G UCP3 uncoupling protein 3 ISO mRNA, protein:increased expression:cochlea (rat) RGD PMID:22543089 RGD:10045653 NCBI chr11:74,000,277...74,009,085
Ensembl chr11:74,000,277...74,009,085 		JBrowse link
G UNC45A unc-45 myosin chaperone A IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:35575086 NCBI chr15:90,930,180...90,954,093
Ensembl chr15:90,930,180...90,954,093 		JBrowse link
G USH1C USH1 protein network component harmonin IAGP DNA:mutations:cds:
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment 		ClinVar
RGD		 PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 More... RGD:8694454 NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416 		JBrowse link
G USH1G USH1 protein network component sans IAGP
EXP 		ClinVar Annotator: match by term: Hearing impairment
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar
CTD		 PMID:24033266 PMID:25255398 PMID:25741868 PMID:27068579 PMID:27353947 More... NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256 		JBrowse link
G USH2A usherin ISO
IAGP 		ClinVar Annotator: match by term: Hearing loss
ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar
RGD		 PMID:2564938 PMID:10729113 PMID:10909849 PMID:14970843 PMID:15015129 More... RGD:8547954 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
G USH2A-AS1 USH2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 More... NCBI chr 1:216,193,722...216,238,035
Ensembl chr 1:216,194,051...216,238,122 		JBrowse link
G USH2A-AS2 USH2A antisense RNA 2 IAGP ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 More... NCBI chr 1:216,072,465...216,086,917
Ensembl chr 1:216,072,454...216,086,917 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:11161832 PMID:11317350 PMID:12073007 PMID:15605410 PMID:22238590 More... NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
G WHRN whirlin IAGP ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:20352026 PMID:22135276 PMID:23804846 PMID:24033266 PMID:25741868 More... NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,078...114,505,473 		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 ACAT2 acetyl-CoA acetyltransferase 2 IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:159,762,045...159,779,112
Ensembl chr 6:159,762,045...159,779,112 		JBrowse link
G AGPAT4 1-acylglycerol-3-phosphate O-acyltransferase 4 IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:161,129,967...161,274,061
Ensembl chr 6:161,129,967...161,274,061 		JBrowse link
G AIRN antisense of IGF2R non-protein coding RNA IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:160,003,291...160,007,664
Ensembl chr 6:160,002,409...160,007,664 		JBrowse link
G DYNLT1 dynein light chain Tctex-type 1 IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:158,636,474...158,644,743
Ensembl chr 6:158,636,474...158,644,743 		JBrowse link
G EZR ezrin IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:158,765,748...158,819,368
Ensembl chr 6:158,765,741...158,819,368 		JBrowse link
G FNDC1 fibronectin type III domain containing 1 IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:159,169,400...159,272,108
Ensembl chr 6:159,169,400...159,272,108 		JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344 		JBrowse link
G IGF2R insulin like growth factor 2 receptor IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:159,969,082...160,111,504
Ensembl chr 6:159,969,082...160,113,507 		JBrowse link
G LINC02901 long intergenic non-protein coding RNA 2901 IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:158,869,814...158,910,353
Ensembl chr 6:158,869,067...158,948,522 		JBrowse link
G LPA lipoprotein(a) IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:160,531,482...160,664,275
Ensembl chr 6:160,531,482...160,664,275 		JBrowse link
G MAP3K4 mitogen-activated protein kinase kinase kinase 4 IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:160,991,769...161,117,380
Ensembl chr 6:160,991,727...161,117,385 		JBrowse link
G MAS1 MAS1 proto-oncogene, G protein-coupled receptor IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:159,888,787...159,917,447
Ensembl chr 6:159,890,988...159,917,447 		JBrowse link
G MRPL18 mitochondrial ribosomal protein L18 IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:159,789,812...159,798,429
Ensembl chr 6:159,789,812...159,798,436 		JBrowse link
G PLG plasminogen IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:160,702,193...160,754,097
Ensembl chr 6:160,702,194...160,754,097 		JBrowse link
G PNLDC1 PARN like ribonuclease domain containing exonuclease 1 IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:159,799,455...159,820,704
Ensembl chr 6:159,800,249...159,820,704 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775 		JBrowse link
G RSPH3 radial spoke head 3 IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:158,962,980...159,000,202
Ensembl chr 6:158,970,084...159,000,202 		JBrowse link
G SERAC1 serine active site containing 1 IAGP
ISS 		ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | ClinVar Annotator: match by term: MEGDEL syndrome
ClinVar Annotator: match by term: SERAC1-related neurological disorder
OMIM:614739 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 More... NCBI chr 6:158,109,519...158,168,262
Ensembl chr 6:158,109,519...158,168,280 		JBrowse link
G SLC22A1 solute carrier family 22 member 1 IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:160,121,815...160,158,718
Ensembl chr 6:160,121,815...160,158,718 		JBrowse link
G SLC22A2 solute carrier family 22 member 2 IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:160,216,755...160,258,821
Ensembl chr 6:160,171,061...160,277,638 		JBrowse link
G SLC22A3 solute carrier family 22 member 3 IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:160,348,378...160,452,577
Ensembl chr 6:160,348,378...160,452,577 		JBrowse link
G SOD2 superoxide dismutase 2 IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G SYTL3 synaptotagmin like 3 IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:158,644,936...158,764,871
Ensembl chr 6:158,650,014...158,764,876 		JBrowse link
G TAGAP T cell activation RhoGTPase activating protein IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:159,034,481...159,044,991
Ensembl chr 6:159,034,468...159,095,823 		JBrowse link
G TCP1 t-complex 1 IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:159,778,498...159,789,602
Ensembl chr 6:159,778,498...159,789,703 		JBrowse link
G TMEM181 transmembrane protein 181 IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:158,536,640...158,635,429
Ensembl chr 6:158,536,436...158,635,433 		JBrowse link
G TULP4 TUB like protein 4 IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:158,232,195...158,511,828
Ensembl chr 6:158,232,236...158,511,828 		JBrowse link
G WTAP WT1 associated protein IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 6:159,726,693...159,756,319
Ensembl chr 6:159,725,585...159,756,319 		JBrowse link
Abruzzo-Erickson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX22 T-box transcription factor 22 IAGP
EXP 		ClinVar Annotator: match by term: Abruzzo-Erickson syndrome
ClinVar Annotator: match by term: Abruzzo-Erickson syndrome | ClinVar Annotator: match by term: TBX22-related condition
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:839509 PMID:14729838 PMID:22784330 PMID:25741868 PMID:28492532 NCBI chr  X:80,014,753...80,031,774
Ensembl chr  X:80,014,753...80,031,774 		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 IAGP ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY ClinVar PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 More... NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY ClinVar PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-RNR1 mitochondrially encoded 12S rRNA IAGP ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY ClinVar PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:648...1,601
Ensembl chr MT:648...1,601 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY 		CTD
ClinVar		 PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 More... NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase IAGP
EXP 		ClinVar Annotator: match by term: Aminoglycoside-induced deafness
ClinVar Annotator: match by term: Aminoglycoside-induced deafness | ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of 		OMIM
ClinVar
CTD		 PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 More... NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340 		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 IAGP DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) RGD PMID:17701896 RGD:12910562 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP
EXP 		ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision
ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE | ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision
ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE | ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:1664177 PMID:3278127 PMID:6243137 PMID:7593598 PMID:8253776 More... NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993 		JBrowse link
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-TV mitochondrially encoded tRNA-Val (GUN) IAGP ClinVar Annotator: match by term: Ataxia, progressive seizures, mental deterioration, and hearing loss ClinVar PMID:9450773 PMID:12056939 PMID:20064630 PMID:31965079 NCBI chr MT:1,602...1,670
Ensembl chr MT:1,602...1,670 		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 IAGP
ISS
EXP 		DNA:mutations:cds:185delG,175-176insG,76C>T(human)
ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: Navajo brainstem syndrome
OMIM:601536
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:16155570 PMID:18412118 PMID:24239177 PMID:25741868 PMID:28492532 More... RGD:11553818 NCBI chr 7:27,092,993...27,096,000
Ensembl chr 7:27,092,993...27,096,000 		JBrowse link
G HOXA2 homeobox A2 IAGP ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: Navajo brainstem syndrome ClinVar PMID:25741868 NCBI chr 7:27,100,354...27,102,683
Ensembl chr 7:27,100,354...27,102,686 		JBrowse link
G LOC113748384 Sharpr-MPRA regulatory region 2148 IAGP ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome ClinVar NCBI chr 7:27,095,970...27,096,264 JBrowse link
Auditory Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G CDH2 cadherin 2 IAGP ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:28492532 NCBI chr18:27,932,879...28,177,130
Ensembl chr18:27,932,879...28,177,946 		JBrowse link
G FDXR ferredoxin reductase IAGP ClinVar Annotator: match by term: Auditory dys-synchrony ClinVar PMID:25741868 PMID:28965846 PMID:29040572 NCBI chr17:74,862,497...74,872,994
Ensembl chr17:74,862,497...74,873,031 		JBrowse link
G KIF5A kinesin family member 5A IAGP ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633 		JBrowse link
G MFN2 mitofusin 2 IAGP ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MT-RNR1 mitochondrially encoded 12S rRNA IAGP ClinVar Annotator: match by term: Auditory dys-synchrony ClinVar PMID:11079536 PMID:11313749 PMID:15466285 PMID:15555598 PMID:15637703 More... NCBI chr MT:648...1,601
Ensembl chr MT:648...1,601 		JBrowse link
G MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G NEFL neurofilament light chain IAGP ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G NOTCH3 notch receptor 3 IAGP ClinVar Annotator: match by term: Auditory dys-synchrony
ClinVar Annotator: match by term: Auditory neuropathy 		ClinVar PMID:25741868 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G OTOF otoferlin IAGP ClinVar Annotator: match by term: Auditory neuropathy
ClinVar Annotator: match by term: Auditory dys-synchrony | ClinVar Annotator: match by term: Auditory neuropathy 		ClinVar PMID:18381613 PMID:19250381 PMID:22575033 PMID:25741868 PMID:26818607 More... NCBI chr 2:26,457,203...26,558,756
Ensembl chr 2:26,457,203...26,558,756 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family IAGP ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr  X:130,110,623...130,184,870
Ensembl chr  X:130,171,962...130,184,870 		JBrowse link
G SLC52A3 solute carrier family 52 member 3 IAGP ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:25741868 PMID:28492532 PMID:32579787 NCBI chr20:760,080...780,033
Ensembl chr20:760,080...776,015 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A IAGP ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:30634948 NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742 		JBrowse link
G TP63 tumor protein p63 IAGP ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TWNK twinkle mtDNA helicase IAGP ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:30818899 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:25741868 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
AURONEURODENTAL SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HYAL3 hyaluronidase 3 IAGP ClinVar Annotator: match by term: Auroneurodental syndrome ClinVar PMID:34805998 NCBI chr 3:50,292,832...50,299,405
Ensembl chr 3:50,292,831...50,299,405 		JBrowse link
G NAA80 N-alpha-acetyltransferase 80, NatH catalytic subunit IAGP ClinVar Annotator: match by term: Auroneurodental syndrome ClinVar PMID:34805998 NCBI chr 3:50,296,402...50,299,405
Ensembl chr 3:50,296,402...50,299,416 		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 IAGP
ISS
EXP 		ClinVar Annotator: match by term: AUDITORY NEUROPATHY, NONSYNDROMIC DOMINANT | ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 | ClinVar Annotator: match by term: DIAPH3-related condition
OMIM:609129
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:15520414 PMID:17576681 PMID:20624953 PMID:21220648 More... NCBI chr13:59,665,583...60,163,928
Ensembl chr13:59,665,583...60,163,928 		JBrowse link
G DIAPH3-AS1 DIAPH3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1
ClinVar Annotator: match by term: DIAPH3-related condition 		ClinVar PMID:15520414 PMID:25741868 PMID:28492532 NCBI chr13:60,012,718...60,044,357
Ensembl chr13:60,012,709...60,044,357 		JBrowse link
Autosomal Dominant Auditory Neuropathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP11A ATPase phospholipid transporting 11A IAGP OMIM NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168 		JBrowse link
autosomal dominant auditory neuropathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM43 transmembrane protein 43 IAGP ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3 OMIM
ClinVar		 PMID:18230648 PMID:20435227 PMID:21214875 PMID:21391237 PMID:21636032 More... NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680 		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 IAGP
EXP 		ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:17576681 More... NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286 		JBrowse link
G LOC126862853 CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:10246117-10247316 IAGP ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr19:10,135,441...10,136,640 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 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant
OMIM:124480
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:24913193 PMID:25741868 PMID:28396750 PMID:30311386 PMID:31581539 More... NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,230,399 		JBrowse link
G LOC129999955 ATAC-STARR-seq lymphoblastoid silent region 18971 IAGP ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:20,197,155...20,197,434 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 IAGP
EXP 		DNA:missense mutations:cds:p.P17T, p.V18P (human)
ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 		ClinVar
CTD
OMIM
RGD		 PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 More... RGD:12910984 NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873 		JBrowse link
Autosomal Dominant Deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC121852992 Sharpr-MPRA regulatory region 11309 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 4 ClinVar PMID:28492532 NCBI chr19:50,230,392...50,230,686 JBrowse link
G MYH14 myosin heavy chain 14 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 4 ClinVar PMID:15015131 PMID:15845534 PMID:16222661 PMID:20533261 PMID:23967202 More... NCBI chr19:50,203,622...50,310,540
Ensembl chr19:50,188,186...50,310,542 		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
IAGP
ISS
EXP 		p.S17F(mouse)
ClinVar Annotator: match by term: KID syndrome, autosomal dominant
ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant
ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant
ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant
OMIM:148210
CTD Direct Evidence: marker/mechanism
p.G45E(mouse)
DNA:mutation:cd:p.D50N(human)
DNA:mutation:cds:p.N14K(human)
DNA:mutations:cds:p.G11E,p.D50N(human) 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... RGD:7364809, RGD:7364889, RGD:7364885, RGD:7364813, RGD:7364811 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
autosomal dominant nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATOH1 atonal bHLH transcription factor 1 IAGP ClinVar Annotator: match by term: Dominant progressive sensorineural hearing loss ClinVar PMID:25741868 PMID:33111345 NCBI chr 4:93,828,753...93,830,964
Ensembl chr 4:93,828,753...93,830,964 		JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 IAGP ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar NCBI chr 3:10,324,023...10,708,007
Ensembl chr 3:10,324,023...10,708,007 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G DIABLO diablo IAP-binding mitochondrial protein IAGP ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr12:122,207,662...122,227,456
Ensembl chr12:122,207,668...122,226,062 		JBrowse link
G GREB1L GREB1 like retinoic acid receptor coactivator IAGP ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 PMID:32585897 NCBI chr18:21,242,232...21,526,112
Ensembl chr18:21,242,232...21,526,112 		JBrowse link
G GREB1L-AS1 GREB1L antisense RNA 1 IAGP ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 PMID:32585897 NCBI chr18:21,380,044...21,451,047 JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 IAGP ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr18:46,476,961...46,657,220
Ensembl chr18:46,476,972...46,657,220 		JBrowse link
G MITF melanocyte inducing transcription factor IAGP ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336 		JBrowse link
G MYH14 myosin heavy chain 14 IAGP ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:15015131 PMID:15845534 PMID:25741868 NCBI chr19:50,203,622...50,310,540
Ensembl chr19:50,188,186...50,310,542 		JBrowse link
G MYO6 myosin VI IAGP ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr 6:75,749,239...75,919,537
Ensembl chr 6:75,749,201...75,919,537 		JBrowse link
G P2RX2 purinergic receptor P2X 2 IAGP ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:30311386 NCBI chr12:132,618,776...132,622,388
Ensembl chr12:132,618,776...132,622,388 		JBrowse link
G PDE1C phosphodiesterase 1C IAGP ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:29860631 NCBI chr 7:31,616,777...32,428,224
Ensembl chr 7:31,751,179...32,428,131 		JBrowse link
G PLS1 plastin 1 IAGP ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing impairment
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 		ClinVar PMID:30872814 PMID:31397523 NCBI chr 3:142,596,393...142,713,664
Ensembl chr 3:142,596,393...142,713,664 		JBrowse link
G REST RE1 silencing transcription factor IAGP ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 PMID:34828371 NCBI chr 4:56,907,900...56,935,844
Ensembl chr 4:56,907,876...56,966,808 		JBrowse link
G SIX1 SIX homeobox 1 IAGP ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:11295831 PMID:12955714 PMID:16648378 PMID:17492394 PMID:17603484 More... NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		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 IAGP
EXP 		ClinVar Annotator: match by term: Deafness, autosomal dominant 1
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA | ClinVar Annotator: match by term: DIAPH1-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 1 | ClinVar Annotator: match by term: KONIGSMARK SYNDROME
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA | ClinVar Annotator: match by term: Deafness, autosomal dominant 1
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA | ClinVar Annotator: match by term: Deafness, autosomal dominant 1 | ClinVar Annotator: match by term: KONIGSMARK SYNDROME
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		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 IAGP
EXP 		ClinVar Annotator: match by term: Deafness, autosomal dominant 10
ClinVar Annotator: match by term: Deafness, autosomal dominant 10 | ClinVar Annotator: match by term: EYA4-Related Disorders
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:9536098 PMID:11159937 PMID:15735644 PMID:16199547 PMID:17567890 More... NCBI chr 6:133,240,593...133,532,128
Ensembl chr 6:133,240,514...133,532,128 		JBrowse link
G LOC126859796 MED14-independent group 3 enhancer GRCh37_chr6:133826289-133827488 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 10
ClinVar Annotator: match by term: EYA4-Related Disorders 		ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:28798025 PMID:30311386 More... NCBI chr 6:133,505,151...133,506,350 JBrowse link
G TARID TCF21 antisense RNA inducing promoter demethylation IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 10
ClinVar Annotator: match by term: Deafness, autosomal dominant 10 | ClinVar Annotator: match by term: EYA4-Related Disorders 		ClinVar PMID:11159937 PMID:15735644 PMID:16199547 PMID:17567890 PMID:17568404 More... NCBI chr 6:133,502,252...133,889,006
Ensembl chr 6:133,485,013...133,953,083 		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 IAGP
EXP 		ClinVar Annotator: match by term: Deafness, autosomal dominant 11
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
autosomal dominant nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126861365 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:121000154-121001353 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 12
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12 		ClinVar PMID:9949200 PMID:20947814 PMID:21520338 PMID:24033266 PMID:25262649 More... NCBI chr11:121,129,445...121,130,644 JBrowse link
G TBCEL-TECTA TBCEL-TECTA readthrough IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 12
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12 		ClinVar PMID:9536098 PMID:9590290 PMID:9949200 PMID:10196713 PMID:10987647 More... NCBI chr11:121,024,102...121,191,490
Ensembl chr11:121,024,125...121,113,108 		JBrowse link
G TECTA tectorin alpha IAGP
ISS
EXP 		ClinVar Annotator: match by term: Deafness, autosomal dominant 12
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12
OMIM:601543
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:9590290 PMID:9949200 PMID:10196713 PMID:10987647 More... NCBI chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490 		JBrowse link
autosomal dominant nonsyndromic deafness 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A2 collagen type XI alpha 2 chain IAGP
ISS
EXP 		ClinVar Annotator: match by term: Deafness, autosomal dominant 13
OMIM:601868
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:10581026 PMID:10677296 PMID:15372529 PMID:15558753 More... NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		JBrowse link
autosomal dominant nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC127814297 RBM27-POU4F3 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 15
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 52
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 52 | ClinVar Annotator: match by term: Deafness, autosomal dominant 15 | ClinVar Annotator: match by term: POU4F3-related condition 		ClinVar PMID:9506947 PMID:12522684 PMID:14585957 PMID:18228599 PMID:19462854 More... NCBI chr 5:146,203,605...146,341,728 JBrowse link
G POU4F3 POU class 4 homeobox 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 15
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 52
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 52 | ClinVar Annotator: match by term: Deafness, autosomal dominant 15 | ClinVar Annotator: match by term: POU4F3-related condition 		ClinVar
OMIM		 PMID:9506947 PMID:12522684 PMID:14585957 PMID:18228599 PMID:19462854 More... NCBI chr 5:146,338,839...146,341,728
Ensembl chr 5:146,338,839...146,341,728 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:22147502 PMID:24033266 PMID:25741868 PMID:26969326 NCBI chr15:43,599,563...43,618,800
Ensembl chr15:43,599,563...43,618,800 		JBrowse link
G TBCEL-TECTA TBCEL-TECTA readthrough IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 More... NCBI chr11:121,024,102...121,191,490
Ensembl chr11:121,024,125...121,113,108 		JBrowse link
G TECTA tectorin alpha IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 More... NCBI chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490 		JBrowse link
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC112695089 Sharpr-MPRA regulatory region 2056 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 17 ClinVar NCBI chr22:36,387,611...36,388,278 JBrowse link
G LOC126863137 CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:36696002-36697201 IAGP ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17
ClinVar Annotator: match by term: Deafness, autosomal dominant 17 		ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr22:36,299,956...36,301,155 JBrowse link
G MYH9 myosin heavy chain 9 IAGP
EXP 		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 17
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:10603121 More... NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		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 IAGP
EXP 		ClinVar Annotator: match by term: Deafness, autosomal dominant 20
ClinVar Annotator: match by term: ACTG1-related disorder | ClinVar Annotator: match by term: Deafness, autosomal dominant 20
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:5654493 PMID:9536098 PMID:12519370 PMID:13680526 PMID:14684684 More... NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847 		JBrowse link
G LOC130061940 ATAC-STARR-seq lymphoblastoid active region 12964 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 20
ClinVar Annotator: match by term: ACTG1-related disorder | ClinVar Annotator: match by term: Deafness, autosomal dominant 20 		ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29357087 More... NCBI chr17:81,512,245...81,512,334 JBrowse link
autosomal dominant nonsyndromic deafness 21 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 IAGP
EXP 		ClinVar Annotator: match by term: Deafness, autosomal dominant 21
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10764236 PMID:25741868 PMID:28492532 PMID:32631815 NCBI chr 6:24,804,284...25,042,168
Ensembl chr 6:24,804,282...25,042,170 		JBrowse link
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIN1 bridging integrator 1 IAGP ClinVar Annotator: match by term: DFNA 22 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288 		JBrowse link
G MYO6 myosin VI IAGP
ISS 		ClinVar Annotator: match by term: Deafness, autosomal dominant 22
ClinVar Annotator: match by term: DFNA 22
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DFNA 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 22
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant 22
OMIM:606346 		ClinVar
MouseDO
OMIM		 PMID:9536098 PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 More... NCBI chr 6:75,749,239...75,919,537
Ensembl chr 6:75,749,201...75,919,537 		JBrowse link
autosomal dominant nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130055766 ATAC-STARR-seq lymphoblastoid silent region 5813 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 23 ClinVar NCBI chr14:60,649,394...60,649,633 JBrowse link
G MIR9718 microRNA 9718 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 23 ClinVar PMID:25741868 NCBI chr14:60,648,648...60,648,711 JBrowse link
G SIX1 SIX homeobox 1 IAGP
EXP 		ClinVar Annotator: match by term: Deafness, autosomal dominant 23
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10777717 PMID:12843324 PMID:15141091 PMID:16652090 PMID:16971658 More... NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259 		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 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Deafness, autosomal dominant 25
ClinVar Annotator: match by term: Deafness, autosomal dominant 25 | ClinVar Annotator: match by term: SLC17A8-related condition
OMIM:605583
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:11115382 PMID:18674745 PMID:23967202 PMID:24033266 PMID:25741868 More... NCBI chr12:100,357,074...100,422,055
Ensembl chr12:100,357,074...100,422,055 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISS OMIM:605583 MouseDO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		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 IAGP ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 27
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 27 | ClinVar Annotator: match by term: Deafness, autosomal dominant 27 		ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:29961578 PMID:34828371 NCBI chr 4:56,907,900...56,935,844
Ensembl chr 4:56,907,876...56,966,808 		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 IAGP
EXP 		DNA:nonsense mutation:exon:
ClinVar Annotator: match by term: Deafness, autosomal dominant 28
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:12393799 PMID:23813623 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:1599382 NCBI chr 8:101,492,439...101,681,200
Ensembl chr 8:101,492,439...101,669,726 		JBrowse link
G LOC126860461 CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:102655529-102656728 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 28 ClinVar PMID:12393799 NCBI chr 8:101,643,301...101,644,505 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 IAGP
EXP 		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: Deafness, autosomal dominant 2A
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: KCNQ4-related condition
ClinVar Annotator: match by term: DFNA 2 Nonsyndromic Hearing Loss
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: Deafness, autosomal dominant 2A | ClinVar Annotator: match by term: KCNQ4-related condition
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: DFNA 2 Nonsyndromic Hearing Loss | ClinVar Annotator: match by term: Deafness, autosomal dominant 2A | ClinVar Annotator: match by term: KCNQ4-related condition
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: DFNA 2 Nonsyndromic Hearing Loss | ClinVar Annotator: match by term: KCNQ4-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8035838 PMID:9126484 PMID:9536098 PMID:10025409 PMID:10369879 More... NCBI chr 1:40,783,787...40,840,452
Ensembl chr 1:40,783,787...40,840,452 		JBrowse link
G LOC129930282 ATAC-STARR-seq lymphoblastoid active region 855 IAGP ClinVar Annotator: match by term: KCNQ4-related condition ClinVar PMID:20301388 PMID:26036578 PMID:28492532 NCBI chr 1:40,818,503...40,818,552 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 IAGP
EXP 		ClinVar Annotator: match by term: Deafness, autosomal dominant 2b
CTD Direct Evidence: marker/mechanism 		ClinVar
OMIM
CTD		 PMID:9843210 PMID:12019212 PMID:16077902 PMID:19050930 PMID:21204020 More... NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369 		JBrowse link
autosomal dominant nonsyndromic deafness 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO3A myosin IIIA IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 30 ClinVar PMID:32519820 NCBI chr10:25,934,229...26,212,532
Ensembl chr10:25,934,229...26,212,532 		JBrowse link
autosomal dominant nonsyndromic deafness 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP11A ATPase phospholipid transporting 11A IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 33 ClinVar PMID:25741868 PMID:30311386 PMID:35278131 NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 33 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammation
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION | ClinVar Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammation 		OMIM
ClinVar		 PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 More... NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		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 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Deafness, autosomal dominant 36
ClinVar Annotator: match by term: TMC1-related condition
ClinVar Annotator: match by term: Deafness, autosomal dominant 36 | ClinVar Annotator: match by term: TMC1-related condition
OMIM:606705
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:11850618 PMID:15354000 PMID:15605408 PMID:16134132 More... NCBI chr 9:72,521,608...72,838,297
Ensembl chr 9:72,521,608...72,838,297 		JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 36 ClinVar NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 37
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 37 | ClinVar Annotator: match by term: Deafness, autosomal dominant 37 		ClinVar
OMIM		 PMID:9536098 PMID:10486316 PMID:16199547 PMID:17576681 PMID:17999364 More... NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G LOC126805814 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:103344928-103346127 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 37
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 37 		ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:102,879,372...102,880,571 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 IAGP
EXP 		ClinVar Annotator: match by term: Deafness, autosomal dominant 3a
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB4 gap junction protein beta 4 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3a ClinVar PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532 NCBI chr 1:34,759,740...34,762,327
Ensembl chr 1:34,759,740...34,762,327 		JBrowse link
autosomal dominant nonsyndromic deafness 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRYL1 crystallin lambda 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:27480936 PMID:28492532 NCBI chr13:20,403,669...20,525,857
Ensembl chr13:20,403,666...20,525,873 		JBrowse link
G EEF1AKMT1 EEF1A lysine methyltransferase 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,728,731...20,773,961
Ensembl chr13:20,728,731...20,773,961 		JBrowse link
G GJA3 gap junction protein alpha 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,138,255...20,161,565
Ensembl chr13:20,138,255...20,161,052 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB6 gap junction protein beta 6 IAGP
EXP 		ClinVar Annotator: match by term: Deafness, autosomal dominant 3b
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:10471490 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 More... NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365 		JBrowse link
G IFT88 intraflagellar transport 88 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444 		JBrowse link
G IL17D interleukin 17D IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,701,513...20,723,098
Ensembl chr13:20,702,127...20,723,098 		JBrowse link
G LOC112163647 Sharpr-MPRA regulatory region 6807 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,506,870...20,507,164 JBrowse link
G LOC121466728 Sharpr-MPRA regulatory region 3329 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,534,370...20,534,664 JBrowse link
G LOC124849292 Sharpr-MPRA regulatory region 1468 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,717,550...20,717,844 JBrowse link
G LOC126861703 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:20748586-20749785 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,174,447...20,175,646 JBrowse link
G LOC126861704 BRD4-independent group 4 enhancer GRCh37_chr13:20953976-20955175 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,379,837...20,381,036 JBrowse link
G LOC126861705 CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:20993166-20994365 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,419,027...20,420,226 JBrowse link
G LOC130009312 ATAC-STARR-seq lymphoblastoid silent region 5150 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,160,783...20,160,872 JBrowse link
G LOC130009313 ATAC-STARR-seq lymphoblastoid silent region 5151 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,161,033...20,161,112 JBrowse link
G LOC130009314 ATAC-STARR-seq lymphoblastoid silent region 5152 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,161,343...20,161,702 JBrowse link
G LOC130009315 ATAC-STARR-seq lymphoblastoid active region 7417 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,219,572...20,219,751 JBrowse link
G LOC130009316 ATAC-STARR-seq lymphoblastoid active region 7418 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,425,154...20,425,203 JBrowse link
G LOC130009317 ATAC-STARR-seq lymphoblastoid active region 7419 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,425,214...20,425,453 JBrowse link
G LOC130009318 ATAC-STARR-seq lymphoblastoid active region 7420 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,425,886...20,425,945 JBrowse link
G LOC130009319 ATAC-STARR-seq lymphoblastoid active region 7421 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,426,006...20,426,065 JBrowse link
G LOC130009320 ATAC-STARR-seq lymphoblastoid active region 7422 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,476,106...20,476,305 JBrowse link
G LOC130009321 ATAC-STARR-seq lymphoblastoid active region 7423 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,476,376...20,476,425 JBrowse link
G LOC130009322 ATAC-STARR-seq lymphoblastoid silent region 5153 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,525,533...20,526,082 JBrowse link
G LOC130009323 ATAC-STARR-seq lymphoblastoid active region 7424 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,526,263...20,526,372 JBrowse link
G LOC130009324 ATAC-STARR-seq lymphoblastoid active region 7425 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,528,721...20,528,830 JBrowse link
G LOC130009325 ATAC-STARR-seq lymphoblastoid silent region 5154 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,566,857...20,567,266 JBrowse link
G LOC130009326 ATAC-STARR-seq lymphoblastoid silent region 5155 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,703,081...20,703,160 JBrowse link
G LOC130009327 ATAC-STARR-seq lymphoblastoid silent region 5156 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,703,581...20,703,720 JBrowse link
G LOC130009328 ATAC-STARR-seq lymphoblastoid silent region 5157 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,704,011...20,704,520 JBrowse link
G LOC130009329 ATAC-STARR-seq lymphoblastoid active region 7426 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,773,316...20,773,535 JBrowse link
G LOC132090175 Neanderthal introgressed variant-containing enhancer experimental_32461 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,273,378...20,273,547 JBrowse link
G MIR4499 microRNA 4499 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,433,778...20,433,846
Ensembl chr13:20,433,778...20,433,846 		JBrowse link
G XPO4 exportin 4 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,777,329...20,902,774
Ensembl chr13:20,777,329...20,903,048 		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 IAGP ClinVar Annotator: match by term: CRYM-related condition
ClinVar Annotator: match by term: Deafness, autosomal dominant 40
ClinVar Annotator: match by term: CRYM-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 40 		OMIM
ClinVar		 PMID:12471561 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:21,258,521...21,303,062
Ensembl chr16:21,238,874...21,303,083 		JBrowse link
G LOC130058620 ATAC-STARR-seq lymphoblastoid active region 10553 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 40 ClinVar PMID:25741868 PMID:28492532 NCBI chr16:21,278,082...21,278,291 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 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Deafness, autosomal dominant 41
ClinVar Annotator: match by term: P2RX2-related condition
OMIM:608224
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:12161595 PMID:23345450 PMID:24033266 PMID:24211385 PMID:25741868 More... NCBI chr12:132,618,776...132,622,388
Ensembl chr12:132,618,776...132,622,388 		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 IAGP
EXP 		DNA:duplication:cds:c.1394_1401dupCACGGCAT(human)
ClinVar Annotator: match by term: CCDC50-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 44
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:12483295 PMID:17503326 PMID:24033266 PMID:24875298 PMID:25741868 More... RGD:9685138 NCBI chr 3:191,329,394...191,398,659
Ensembl chr 3:191,329,085...191,398,659 		JBrowse link
autosomal dominant nonsyndromic deafness 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126861538 BRD4-independent group 4 enhancer GRCh37_chr12:57440635-57441834 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 48 ClinVar PMID:12736868 PMID:24033266 PMID:24616153 NCBI chr12:57,046,851...57,048,050 JBrowse link
G MYO1A myosin IA IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 48 ClinVar PMID:12736868 PMID:24033266 PMID:24616153 PMID:25741868 NCBI chr12:57,028,517...57,051,198
Ensembl chr12:57,028,517...57,051,198 		JBrowse link
autosomal dominant nonsyndromic deafness 4A 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 ISS OMIM:600652 MouseDO NCBI chr19:44,699,151...44,710,718
Ensembl chr19:44,699,151...44,710,718 		JBrowse link
G LOC121852992 Sharpr-MPRA regulatory region 11309 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 4A ClinVar PMID:28492532 NCBI chr19:50,230,392...50,230,686 JBrowse link
G MYH14 myosin heavy chain 14 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 4A | ClinVar Annotator: match by term: MYH14-related condition
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 4A | ClinVar Annotator: match by term: Deafness, autosomal dominant 4A 		OMIM
ClinVar		 PMID:15015131 PMID:15845534 PMID:16222661 PMID:20533261 PMID:23967202 More... NCBI chr19:50,203,622...50,310,540
Ensembl chr19:50,188,186...50,310,542 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 4b
ClinVar Annotator: match by term: CEACAM16-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 4b 		ClinVar
OMIM		 PMID:7655461 PMID:21368133 PMID:24033266 PMID:25589040 PMID:25741868 More... NCBI chr19:44,699,151...44,710,718
Ensembl chr19:44,699,151...44,710,718 		JBrowse link
G CEACAM16-AS1 CEACAM16, CEACAM19 and PVR antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 4b
ClinVar Annotator: match by term: CEACAM16-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 4b 		ClinVar PMID:7655461 PMID:21368133 PMID:24033266 PMID:25589040 PMID:25741868 More... NCBI chr19:44,699,038...44,725,184
Ensembl chr19:44,608,568...44,725,315 		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 IAGP
EXP 		ClinVar Annotator: match by term: Deafness, autosomal dominant 5
ClinVar Annotator: match by term: Deafness, autosomal dominant 5 | ClinVar Annotator: match by term: GSDME-related condition
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:7427029 PMID:9536098 PMID:14676472 PMID:15173223 PMID:17427029 More... NCBI chr 7:24,698,355...24,795,539
Ensembl chr 7:24,698,355...24,757,940 		JBrowse link
G LOC129998098 ATAC-STARR-seq lymphoblastoid active region 25750 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:24,718,874...24,719,063 JBrowse link
G LOC129998104 ATAC-STARR-seq lymphoblastoid active region 25754 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 5 ClinVar NCBI chr 7:24,757,734...24,757,963 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 96 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 50
ClinVar Annotator: match by term: MIR96-related condition 		ClinVar
OMIM		 PMID:14757864 PMID:19363479 PMID:24033266 NCBI chr 7:129,774,692...129,774,769
Ensembl chr 7:129,774,692...129,774,769 		JBrowse link
autosomal dominant nonsyndromic deafness 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC124292588 Sharpr-MPRA regulatory region 4978 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar NCBI chr 9:69,204,473...69,204,767 JBrowse link
G LOC130001864 ATAC-STARR-seq lymphoblastoid silent region 19932 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar NCBI chr 9:69,121,690...69,121,859 JBrowse link
G LOC130001865 ATAC-STARR-seq lymphoblastoid active region 28446 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar NCBI chr 9:69,155,380...69,155,439 JBrowse link
G LOC130001866 ATAC-STARR-seq lymphoblastoid silent region 19933 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar NCBI chr 9:69,173,866...69,174,295 JBrowse link
G LOC130001867 ATAC-STARR-seq lymphoblastoid active region 28447 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar NCBI chr 9:69,175,186...69,175,375 JBrowse link
G TJP2 tight junction protein 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 51
ClinVar Annotator: match by term: CHROMOSOME 9q21.11 DUPLICATION SYNDROME 		ClinVar PMID:20602916 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 9:69,121,264...69,255,208
Ensembl chr 9:69,121,264...69,274,615 		JBrowse link
autosomal dominant nonsyndromic deafness 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DELEC1 deleted in esophageal cancer 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr 9:115,141,818...115,402,644
Ensembl chr 9:114,850,968...115,402,644 		JBrowse link
G LOC126860740 CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:117797665-117798864 IAGP ClinVar Annotator: match by term: TNC-related condition ClinVar NCBI chr 9:115,035,386...115,036,585 JBrowse link
G LOC126860741 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:117825442-117826641 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 56 | ClinVar Annotator: match by term: TNC-related condition ClinVar PMID:25741868 PMID:28492532 PMID:36597107 NCBI chr 9:115,063,163...115,064,362 JBrowse link
G PAPPA pappalysin 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr 9:116,153,791...116,402,321
Ensembl chr 9:116,153,791...116,402,321 		JBrowse link
G TNC tenascin C IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 56 | ClinVar Annotator: match by term: TNC-related condition OMIM
ClinVar		 PMID:21681106 PMID:23936043 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 9:115,019,575...115,118,157
Ensembl chr 9:115,019,575...115,118,207 		JBrowse link
G TNFSF8 TNF superfamily member 8 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr 9:114,893,343...114,930,595
Ensembl chr 9:114,893,343...114,930,595 		JBrowse link
autosomal dominant nonsyndromic deafness 58 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNRIP1 cannabinoid receptor interacting protein 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr 2:68,284,171...68,319,949
Ensembl chr 2:68,284,171...68,320,051 		JBrowse link
G LOC101927723 uncharacterized LOC101927723 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr 2:68,361,217...68,366,404 JBrowse link
G LOC115945159 CRISPRi-validated cis-regulatory element chr2.2452 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr 2:68,352,631...68,353,045 JBrowse link
G LOC122757962 Sharpr-MPRA regulatory region 10638 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr 2:68,303,277...68,303,571 JBrowse link
G LOC129933976 ATAC-STARR-seq lymphoblastoid silent region 11586 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr 2:68,251,852...68,251,961 JBrowse link
G LOC129933977 ATAC-STARR-seq lymphoblastoid silent region 11587 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr 2:68,252,142...68,252,191 JBrowse link
G LOC129933978 ATAC-STARR-seq lymphoblastoid silent region 11588 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr 2:68,252,452...68,252,891 JBrowse link
G LOC129933979 ATAC-STARR-seq lymphoblastoid silent region 11589 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr 2:68,295,615...68,295,714 JBrowse link
G LOC129933980 ATAC-STARR-seq lymphoblastoid active region 15948 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr 2:68,362,241...68,362,310 JBrowse link
G LOC129933981 ATAC-STARR-seq lymphoblastoid active region 15949 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr 2:68,365,242...68,365,321 JBrowse link
G LOC129933982 ATAC-STARR-seq lymphoblastoid active region 15950 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr 2:68,387,276...68,387,455 JBrowse link
G LOC129933983 ATAC-STARR-seq lymphoblastoid active region 15951 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr 2:68,387,476...68,387,895 JBrowse link
G LOC129933984 ATAC-STARR-seq lymphoblastoid active region 15952 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr 2:68,389,146...68,389,195 JBrowse link
G LOC129933985 ATAC-STARR-seq lymphoblastoid silent region 11590 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr 2:68,405,160...68,405,209 JBrowse link
G LOC129933986 ATAC-STARR-seq lymphoblastoid silent region 11591 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr 2:68,423,464...68,423,533 JBrowse link
G LOC129933987 ATAC-STARR-seq lymphoblastoid active region 15953 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr 2:68,423,874...68,424,113 JBrowse link
G LOC129933988 ATAC-STARR-seq lymphoblastoid active region 15954 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr 2:68,424,234...68,424,343 JBrowse link
G LOC129933989 ATAC-STARR-seq lymphoblastoid active region 15955 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr 2:68,441,421...68,441,470 JBrowse link
G LOC129933990 ATAC-STARR-seq lymphoblastoid active region 15956 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr 2:68,441,561...68,441,610 JBrowse link
G LOC129933991 ATAC-STARR-seq lymphoblastoid silent region 11592 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr 2:68,441,801...68,442,040 JBrowse link
G LOC132088853 Neanderthal introgressed variant-containing enhancer experimental_59162 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr 2:68,219,719...68,219,888 JBrowse link
G LOC132088854 Neanderthal introgressed variant-containing enhancer experimental_59182 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr 2:68,230,356...68,230,525 JBrowse link
G PLEK pleckstrin IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr 2:68,365,282...68,397,453
Ensembl chr 2:68,365,282...68,397,453 		JBrowse link
G PPP3R1 protein phosphatase 3 regulatory subunit B, alpha IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr 2:68,178,857...68,252,532
Ensembl chr 2:68,178,857...68,256,237 		JBrowse link
autosomal dominant nonsyndromic deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129992166 ATAC-STARR-seq lymphoblastoid silent region 15229 IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38 		ClinVar PMID:12955714 PMID:17603484 PMID:18060660 PMID:20301750 PMID:20738327 More... NCBI chr 4:6,269,828...6,269,937 JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP
EXP 		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:3126496 PMID:3442652 PMID:3478949 PMID:8595423 PMID:9536098 More... NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
autosomal dominant nonsyndromic deafness 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GNT4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 64
ClinVar Annotator: match by term: DIABLO-related condition 		ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:122,203,709...122,208,952
Ensembl chr12:122,203,681...122,208,952 		JBrowse link
G DIABLO diablo IAP-binding mitochondrial protein IAGP ClinVar Annotator: match by term: DIABLO-related condition
ClinVar Annotator: match by term: Deafness, autosomal dominant 64 		OMIM
ClinVar		 PMID:21722859 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:122,207,662...122,227,456
Ensembl chr12:122,207,668...122,226,062 		JBrowse link
G LOC130009040 ATAC-STARR-seq lymphoblastoid active region 7211 IAGP ClinVar Annotator: match by term: DIABLO-related condition ClinVar PMID:24033266 PMID:28492532 NCBI chr12:122,225,829...122,226,068 JBrowse link
autosomal dominant nonsyndromic deafness 65 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNF cyclin F IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 65 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr16:2,429,447...2,458,854
Ensembl chr16:2,429,394...2,458,854 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 65 OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:22277662 PMID:23526554 PMID:23806086 More... NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671 		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 IAGP ClinVar Annotator: match by term: CD164-related condition
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 66 		OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:26197441 PMID:28492532 NCBI chr 6:109,366,514...109,382,467
Ensembl chr 6:109,366,514...109,382,467 		JBrowse link
autosomal dominant nonsyndromic deafness 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OSBPL2 oxysterol binding protein like 2 ISS OMIM:616340 MouseDO NCBI chr20:62,228,243...62,236,301
Ensembl chr20:62,231,922...62,296,213 		JBrowse link
G OSBPL2 oxysterol binding protein like 2 IAGP ClinVar Annotator: match by term: OSBPL2-related condition
ClinVar Annotator: match by term: Deafness, autosomal dominant 67 | ClinVar Annotator: match by term: OSBPL2-related condition 		OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:25759012 PMID:26467025 PMID:28492532 NCBI chr20:62,238,521...62,296,183
Ensembl chr20:62,231,922...62,296,213 		JBrowse link
autosomal dominant nonsyndromic deafness 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOMER2 homer scaffold protein 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 68
ClinVar Annotator: match by term: HOMER2-related condition
ClinVar Annotator: match by term: Deafness, autosomal dominant 68 | ClinVar Annotator: match by term: HOMER2-related condition 		OMIM
ClinVar		 PMID:25741868 PMID:25816005 PMID:26467025 PMID:28492532 PMID:30047143 More... NCBI chr15:82,834,661...82,986,157
Ensembl chr15:82,836,946...82,986,153 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 69, unilateral or asymmetric OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:26522471 PMID:28492532 PMID:33229591 NCBI chr12:88,492,793...88,580,471
Ensembl chr12:88,492,793...88,580,851 		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 IAGP
EXP 		ClinVar Annotator: match by term: Deafness, autosomal dominant 7
ClinVar Annotator: match by term: LMX1A-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:25741868 PMID:28492532 PMID:29754270 PMID:30311386 PMID:32840933 More... NCBI chr 1:165,201,867...165,356,715
Ensembl chr 1:165,201,867...165,356,715 		JBrowse link
G LMX1A-AS2 LMX1A antisense RNA 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 7
ClinVar Annotator: match by term: LMX1A-related condition 		ClinVar PMID:25741868 PMID:28492532 PMID:29754270 NCBI chr 1:165,204,047...165,212,923
Ensembl chr 1:165,210,627...165,213,090 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 70
ClinVar Annotator: match by term: Deafness, autosomal dominant 70 | ClinVar Annotator: match by term: MCM2-related condition 		ClinVar
OMIM		 PMID:25741868 PMID:26196677 PMID:26467025 PMID:28492532 PMID:29706348 NCBI chr 3:127,598,411...127,622,436
Ensembl chr 3:127,598,223...127,622,436 		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 IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 71 | ClinVar Annotator: match by term: Deafness, autosomal dominant 71 OMIM
ClinVar		 PMID:25741868 PMID:27657680 PMID:28492532 PMID:33715530 PMID:35802133 More... NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833 		JBrowse link
autosomal dominant nonsyndromic deafness 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EHMT2-AS1 EHMT2 and SLC44A4 antisense RNA 1 IAGP ClinVar Annotator: match by term: SLC44A4-related condition ClinVar PMID:28492532 NCBI chr 6:31,877,808...31,884,204
Ensembl chr 6:31,877,808...31,884,204
Ensembl chr 6:31,877,808...31,884,204 		JBrowse link
G SLC44A4 solute carrier family 44 member 4 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 72
ClinVar Annotator: match by term: SLC44A4-related condition 		ClinVar
OMIM		 PMID:25741868 PMID:28013291 PMID:28492532 NCBI chr 6:31,863,192...31,878,997
Ensembl chr 6:31,863,192...31,879,046 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 73
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 73 | ClinVar Annotator: match by term: Deafness, autosomal dominant 73 | ClinVar Annotator: match by term: PTPRQ-related condition 		ClinVar
OMIM		 PMID:25741868 PMID:26467025 PMID:29309402 PMID:30311386 PMID:31655630 NCBI chr12:80,444,235...80,680,273
Ensembl chr12:80,402,178...80,680,273 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 74
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 74 | ClinVar Annotator: match by term: Deafness, autosomal dominant 74
ClinVar Annotator: match by term: Deafness, autosomal dominant 74 | ClinVar Annotator: match by term: PDE1C-related condition 		ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:29860631 NCBI chr 7:31,616,777...32,428,224
Ensembl chr 7:31,751,179...32,428,131 		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 IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 75 | ClinVar Annotator: match by term: Deafness, autosomal dominant 75 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31231791 NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 76
ClinVar Annotator: match by term: Deafness, autosomal dominant 76 | ClinVar Annotator: match by term: PLS1-related condition 		ClinVar
OMIM		 PMID:25124451 PMID:25741868 PMID:28492532 PMID:30872814 PMID:31397523 More... NCBI chr 3:142,596,393...142,713,664
Ensembl chr 3:142,596,393...142,713,664 		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 (ABCC1 blood group) IAGP ClinVar Annotator: match by term: ABCC1-related condition
ClinVar Annotator: match by term: Deafness, autosomal dominant 77 		OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31273342 NCBI chr16:15,949,143...16,143,053
Ensembl chr16:15,949,138...16,143,257 		JBrowse link
autosomal dominant nonsyndromic deafness 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129994526 ATAC-STARR-seq lymphoblastoid silent region 16295 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 78 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:128,083,430...128,084,259 JBrowse link
G SLC12A2 solute carrier family 12 member 2 IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 78
ClinVar Annotator: match by term: Deafness, autosomal dominant 78 		OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30311386 PMID:30740830 PMID:32294086 More... NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 79 OMIM
ClinVar		 PMID:31972369 NCBI chr 4:82,629,539...82,798,796
Ensembl chr 4:82,629,539...82,798,796 		JBrowse link
autosomal dominant nonsyndromic deafness 80 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GREB1L GREB1 like retinoic acid receptor coactivator IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 80
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 80 | ClinVar Annotator: match by term: Deafness, autosomal dominant 80 		OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29100090 PMID:29955957 PMID:30311386 More... NCBI chr18:21,242,232...21,526,112
Ensembl chr18:21,242,232...21,526,112 		JBrowse link
G GREB1L-AS1 GREB1L antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 80
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 80 		ClinVar PMID:25741868 PMID:29100090 PMID:29955957 PMID:30311386 PMID:32378186 More... NCBI chr18:21,380,044...21,451,047 JBrowse link
G MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 80 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
autosomal dominant nonsyndromic deafness 81 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELMOD3 ELMO domain containing 3 IAGP ClinVar Annotator: match by term: ELMOD3-related condition
ClinVar Annotator: match by term: Deafness, autosomal dominant 81 | ClinVar Annotator: match by term: ELMOD3-related condition 		OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29713870 NCBI chr 2:85,354,769...85,391,748
Ensembl chr 2:85,354,394...85,391,752 		JBrowse link
autosomal dominant nonsyndromic deafness 82 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 82
ClinVar Annotator: match by term: ATP2B2-related Progressive hearing impairment 		OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30535804 NCBI chr 3:10,324,023...10,708,007
Ensembl chr 3:10,324,023...10,708,007 		JBrowse link
autosomal dominant nonsyndromic deafness 83 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP1B microtubule associated protein 1B IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 83 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33268592 NCBI chr 5:72,107,475...72,209,565
Ensembl chr 5:72,107,234...72,209,565 		JBrowse link
autosomal dominant nonsyndromic deafness 84 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP11A ATPase phospholipid transporting 11A IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 84 ClinVar
OMIM		 PMID:25741868 PMID:30311386 PMID:35278131 NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168 		JBrowse link
G LOC130010167 ATAC-STARR-seq lymphoblastoid silent region 5534 IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 84 ClinVar PMID:35278131 NCBI chr13:112,689,641...112,690,570 JBrowse link
autosomal dominant nonsyndromic deafness 85 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USP48 ubiquitin specific peptidase 48 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 85 OMIM
ClinVar		 PMID:25741868 PMID:34059922 NCBI chr 1:21,678,298...21,783,149
Ensembl chr 1:21,678,298...21,783,606 		JBrowse link
autosomal dominant nonsyndromic deafness 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G THOC1 THO complex subunit 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 86 ClinVar
OMIM		 PMID:25741868 PMID:32776944 NCBI chr18:214,520...268,047
Ensembl chr18:214,520...268,050 		JBrowse link
autosomal dominant nonsyndromic deafness 87 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PI4KB phosphatidylinositol 4-kinase beta IAGP ClinVar Annotator: match by term: PI4KB-related condition
ClinVar Annotator: match by term: Deafness, autosomal dominant 87 		OMIM
ClinVar		 PMID:33358777 NCBI chr 1:151,291,797...151,327,715
Ensembl chr 1:151,291,797...151,327,715 		JBrowse link
autosomal dominant nonsyndromic deafness 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPHA10 EPH receptor A10 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 88 OMIM
ClinVar		 PMID:25741868 NCBI chr 1:37,713,880...37,765,120
Ensembl chr 1:37,713,880...37,765,133 		JBrowse link
autosomal dominant nonsyndromic deafness 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATOH1 atonal bHLH transcription factor 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 89
ClinVar Annotator: match by term: ATOH1-related condition 		ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:33111345 NCBI chr 4:93,828,753...93,830,964
Ensembl chr 4:93,828,753...93,830,964 		JBrowse link
autosomal dominant nonsyndromic deafness 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL049830.3 novel transcript, antisense to COCH IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 9
ClinVar Annotator: match by term: COCH-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 9 		ClinVar PMID:8817345 PMID:9806553 PMID:9931344 PMID:10400989 PMID:11332404 More... NCBI chr14:30,876,179...30,889,808
Ensembl chr14:30,876,179...30,889,808 		JBrowse link
G COCH cochlin IAGP
ISS
EXP 		ClinVar Annotator: match by term: Deafness, autosomal dominant 9
ClinVar Annotator: match by term: COCH-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 9
OMIM:601369
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:8817345 PMID:9806553 PMID:9931344 PMID:10400989 PMID:11332404 More... NCBI chr14:30,874,559...30,895,615
Ensembl chr14:30,874,514...30,895,065 		JBrowse link
autosomal dominant nonsyndromic deafness 90 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO3A myosin IIIA IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 90 OMIM
ClinVar		 PMID:25741868 PMID:26841241 PMID:28492532 PMID:29880844 PMID:34788109 NCBI chr10:25,934,229...26,212,532
Ensembl chr10:25,934,229...26,212,532 		JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK13 cyclin dependent kinase 13 IAGP ClinVar Annotator: match by term: Wolfram-like disorder ClinVar PMID:25741868 PMID:28492532 PMID:33879837 NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP
EXP 		ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3126496 PMID:3478949 PMID:9536098 PMID:9771706 PMID:9817917 More... NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
autosomal recessive nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:25741868 PMID:28492532 PMID:28951997 PMID:30303587 NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437 		JBrowse link
G ANAPC15 anaphase promoting complex subunit 15 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:25741868 NCBI chr11:72,106,372...72,112,780
Ensembl chr11:72,106,378...72,112,780 		JBrowse link
G ANKRD36 ankyrin repeat domain 36 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr 2:97,113,153...97,264,521
Ensembl chr 2:97,113,153...97,264,521 		JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 ISS OMIM:607197 MouseDO NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431 		JBrowse link
G BSND barttin CLCNK type accessory subunit beta IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:11734858 PMID:12574213 PMID:16328537 PMID:16572343 PMID:16935888 More... NCBI chr 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172 		JBrowse link
G C10orf105 chromosome 10 open reading frame 105 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness 		ClinVar PMID:11090341 PMID:11138009 PMID:16679490 PMID:21940737 PMID:25741868 More... NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824 		JBrowse link
G CABP2 calcium binding protein 2 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Deafness, autosomal recessive 		ClinVar PMID:9536098 PMID:17576681 PMID:22981119 PMID:25741868 PMID:28492532 More... NCBI chr11:67,518,912...67,523,446
Ensembl chr11:67,518,912...67,524,517 		JBrowse link
G CDH23 cadherin related 23 IAGP DNA:missense mutations:multiple
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive 		ClinVar
RGD		 PMID:8894709 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 More... RGD:8662281 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30311386 NCBI chr19:44,699,151...44,710,718
Ensembl chr19:44,699,151...44,710,718 		JBrowse link
G CEACAM16-AS1 CEACAM16, CEACAM19 and PVR antisense RNA 1 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30311386 NCBI chr19:44,699,038...44,725,184
Ensembl chr19:44,608,568...44,725,315 		JBrowse link
G CIB2 calcium and integrin binding family member 2 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Deafness, autosomal recessive 		ClinVar PMID:23023331 PMID:24033266 PMID:25741868 PMID:26214305 PMID:26426422 More... NCBI chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535 		JBrowse link
G CLCC1 chloride channel CLIC like 1 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr 1:108,929,505...108,963,484
Ensembl chr 1:108,881,885...108,963,527 		JBrowse link
G CLCNKA chloride voltage-gated channel Ka IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr 1:16,022,036...16,034,050
Ensembl chr 1:16,018,875...16,034,050 		JBrowse link
G CLDN14 claudin 14 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness 		ClinVar PMID:11163249 PMID:15880785 PMID:22246673 PMID:25741868 PMID:30303587 More... NCBI chr21:36,460,621...36,576,569
Ensembl chr21:36,460,621...36,576,569 		JBrowse link
G CLDN14-AS1 CLDN14 antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness 		ClinVar PMID:11163249 PMID:15880785 PMID:22246673 PMID:25741868 PMID:30303587 More... NCBI chr21:36,430,325...36,498,526 JBrowse link
G CLIC5 chloride intracellular channel 5 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr 6:45,880,827...46,129,819
Ensembl chr 6:45,880,827...46,080,348 		JBrowse link
G DYSF dysferlin IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:28492532 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G EDNRB endothelin receptor type B IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:14633923 PMID:16944573 PMID:17554617 PMID:18162831 PMID:20127975 More... NCBI chr13:77,895,487...77,975,527
Ensembl chr13:77,895,481...77,975,529 		JBrowse link
G EDNRB-AS1 EDNRB antisense RNA 1 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:14633923 PMID:16944573 PMID:17554617 PMID:18162831 PMID:20127975 More... NCBI chr13:77,818,937...77,908,442
Ensembl chr13:77,779,723...77,908,445 		JBrowse link
G EPS8 EGFR pathway substrate 8, signaling adaptor IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:30303587 NCBI chr12:15,620,134...15,789,388
Ensembl chr12:15,620,134...15,882,329 		JBrowse link
G ESPN espin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 1:6,424,776...6,461,370
Ensembl chr 1:6,424,776...6,461,367 		JBrowse link
G ESRRB estrogen related receptor beta IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:23967202 PMID:24033266 PMID:30303587 PMID:33524517 NCBI chr14:76,310,777...76,501,837
Ensembl chr14:76,310,712...76,501,837 		JBrowse link
G GIPC3 GIPC PDZ domain containing family member 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr19:3,585,478...3,593,541
Ensembl chr19:3,585,478...3,593,541 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness 		ClinVar PMID:3 PMID:1511312 PMID:2104787 PMID:2706105 PMID:8789457 More... NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB3 gap junction protein beta 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10587579 NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369 		JBrowse link
G GOSR2 golgi SNAP receptor complex member 2 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:35802133 PMID:37074134 NCBI chr17:46,923,160...46,975,890
Ensembl chr17:46,923,075...46,975,524 		JBrowse link
G GPR156 G protein-coupled receptor 156 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:37814107 NCBI chr 3:120,165,478...120,285,222
Ensembl chr 3:120,164,645...120,285,222 		JBrowse link
G GPSM2 G protein signaling modulator 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness 		ClinVar PMID:20602914 PMID:22578326 PMID:25741868 PMID:30303587 PMID:32747562 NCBI chr 1:108,876,985...108,934,545
Ensembl chr 1:108,875,350...108,934,545 		JBrowse link
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20137778 PMID:24033266 PMID:28492532 PMID:30303587 NCBI chr 4:42,892,713...43,030,658
Ensembl chr 4:42,892,713...43,030,658 		JBrowse link
G GRXCR2 glutaredoxin and cysteine rich domain containing 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr 5:145,857,670...145,931,673
Ensembl chr 5:145,858,521...145,937,126 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Deafness, autosomal recessive 		ClinVar PMID:15641023 PMID:21255762 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr 3:121,987,323...122,061,655
Ensembl chr 3:121,987,323...122,022,247 		JBrowse link
G KARS1 lysyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 PMID:30252186 More... NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:25741868 PMID:26467025 PMID:27171548 PMID:28492532 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483 		JBrowse link
G LHFPL5 LHFPL tetraspan subfamily member 5 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive 		ClinVar PMID:16459341 PMID:25741868 PMID:30177809 PMID:30298622 PMID:30303587 More... NCBI chr 6:35,805,352...35,824,070
Ensembl chr 6:35,797,206...35,845,397 		JBrowse link
G LOC105371566 uncharacterized LOC105371566 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr17:18,107,691...18,117,561 JBrowse link
G LOC106501712 CLCNKA recombination region IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr 1:16,023,929...16,036,205 JBrowse link
G LOC111982869 Sharpr-MPRA regulatory region 2121 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:19888295 PMID:21917145 PMID:24006325 PMID:24033266 PMID:25741868 More... NCBI chr10:71,805,832...71,806,126 JBrowse link
G LOC123956210 Sharpr-MPRA regulatory region 3291 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness 		ClinVar PMID:16283880 PMID:17125574 PMID:20301640 PMID:23638949 PMID:24224479 More... NCBI chr 7:107,709,864...107,710,158 JBrowse link
G LOC126861365 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:121000154-121001353 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr11:121,129,445...121,130,644 JBrowse link
G LOC127814297 RBM27-POU4F3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 5:146,203,605...146,341,728 JBrowse link
G LOC129996737 ATAC-STARR-seq lymphoblastoid silent region 17342 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr 6:75,749,046...75,749,215 JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness 		ClinVar PMID:16199547 PMID:19732867 PMID:21465660 PMID:24033266 PMID:25741868 More... NCBI chr18:46,476,961...46,657,220
Ensembl chr18:46,476,972...46,657,220 		JBrowse link
G LRRC37A2 leucine rich repeat containing 37 member A2 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:35802133 PMID:37074134 NCBI chr17:46,372,792...47,049,128
Ensembl chr17:46,511,508...46,556,910 		JBrowse link
G LRRC51 leucine rich repeat containing 51 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr11:72,080,850...72,096,895
Ensembl chr11:72,080,337...72,096,895 		JBrowse link
G LRTOMT leucine rich transmembrane and O-methyltransferase domain containing IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:72,080,850...72,110,782
Ensembl chr11:72,080,331...72,110,782 		JBrowse link
G MARVELD2 MARVEL domain containing 2 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:24033266 PMID:30303587 NCBI chr 5:69,415,116...69,444,330
Ensembl chr 5:69,415,065...69,444,330 		JBrowse link
G MPZL2 myelin protein zero like 2 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:25741868 PMID:28492532 PMID:29961571 PMID:29982980 PMID:30311386 NCBI chr11:118,253,416...118,264,297
Ensembl chr11:118,253,416...118,264,536 		JBrowse link
G MSRB3 methionine sulfoxide reductase B3 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:19650862 PMID:21185009 PMID:25741868 PMID:30303587 NCBI chr12:65,278,683...65,466,907
Ensembl chr12:65,278,643...65,491,430 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G MYO15A myosin XVA IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive 		ClinVar PMID:9536098 PMID:16199547 PMID:17546645 PMID:17576681 PMID:19309289 More... NCBI chr17:18,108,756...18,179,800
Ensembl chr17:18,108,756...18,179,802 		JBrowse link
G MYO3A myosin IIIA IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:25741868 NCBI chr10:25,934,229...26,212,532
Ensembl chr10:25,934,229...26,212,532 		JBrowse link
G MYO6 myosin VI IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:75,749,239...75,919,537
Ensembl chr 6:75,749,201...75,919,537 		JBrowse link
G MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive 		ClinVar PMID:8900236 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10930322 More... NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G OTOA otoancorin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:23173898 PMID:24033266 PMID:28492532 PMID:30303587 NCBI chr16:21,663,968...21,760,729
Ensembl chr16:21,663,968...21,761,935 		JBrowse link
G OTOF otoferlin ISO
IAGP 		DNA:missense mutation:cds:p.I318N (mouse)
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive 		ClinVar
RGD		 PMID:12525542 PMID:14635104 PMID:18381613 PMID:19250381 PMID:19461658 More... RGD:9479154 NCBI chr 2:26,457,203...26,558,756
Ensembl chr 2:26,457,203...26,558,756 		JBrowse link
G OTOG otogelin IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 PMID:30311386 NCBI chr11:17,547,259...17,646,044
Ensembl chr11:17,547,259...17,647,150 		JBrowse link
G OTOGL otogelin like IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr12:80,099,537...80,380,880
Ensembl chr12:80,099,537...80,380,880 		JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness 		ClinVar PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942 		JBrowse link
G PDZD7 PDZ domain containing 7 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:20440071 PMID:25741868 PMID:28492532 PMID:29048736 PMID:30311386 More... NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295 		JBrowse link
G PJVK pejvakin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive 		ClinVar PMID:17301963 PMID:17718875 PMID:19888295 PMID:21696384 PMID:24033266 More... NCBI chr 2:178,451,378...178,462,102
Ensembl chr 2:178,451,346...178,462,102 		JBrowse link
G POU4F3 POU class 4 homeobox 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 5:146,338,839...146,341,728
Ensembl chr 5:146,338,839...146,341,728 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512 		JBrowse link
G PSAP prosaposin IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive 		ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness 		ClinVar PMID:30303587 PMID:30311386 NCBI chr12:80,444,235...80,680,273
Ensembl chr12:80,402,178...80,680,273 		JBrowse link
G RDX radixin IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 NCBI chr11:110,174,922...110,296,614
Ensembl chr11:109,864,295...110,296,712 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive 		ClinVar PMID:9398842 PMID:9536098 PMID:9618166 PMID:9618167 PMID:10700480 More... NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809 		JBrowse link
G SLC26A4-AS1 SLC26A4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:19287372 PMID:25372295 PMID:28492532 PMID:30303587 NCBI chr 7:107,656,516...107,661,798
Ensembl chr 7:107,650,260...107,662,204 		JBrowse link
G SLC26A5 solute carrier family 26 member 5 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr 7:103,352,730...103,446,207
Ensembl chr 7:103,352,730...103,446,207 		JBrowse link
G TBCEL-TECTA TBCEL-TECTA readthrough IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr11:121,024,102...121,191,490
Ensembl chr11:121,024,125...121,113,108 		JBrowse link
G TECTA tectorin alpha IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490 		JBrowse link
G TMC1 transmembrane channel like 1 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive 		ClinVar PMID:11850618 PMID:16134132 PMID:16199547 PMID:17877751 PMID:18414213 More... NCBI chr 9:72,521,608...72,838,297
Ensembl chr 9:72,521,608...72,838,297 		JBrowse link
G TMIE transmembrane inner ear IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:28492532 More... NCBI chr 3:46,693,778...46,710,886
Ensembl chr 3:46,694,528...46,710,886 		JBrowse link
G TMPRSS3 transmembrane serine protease 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive 		ClinVar PMID:11137999 PMID:11424922 PMID:12920079 PMID:16021470 PMID:17551081 More... NCBI chr21:42,371,890...42,396,052
Ensembl chr21:42,371,887...42,396,091 		JBrowse link
G TOGARAM2 TOG array regulator of axonemal microtubules 2 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:20642360 PMID:38374469 NCBI chr 2:28,956,518...29,052,230
Ensembl chr 2:28,956,611...29,052,230 		JBrowse link
G TOMT transmembrane O-methyltransferase IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr11:72,105,924...72,109,596
Ensembl chr11:72,105,924...72,109,596 		JBrowse link
G TPRN taperin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20170899 PMID:30303587 NCBI chr 9:137,191,619...137,200,741
Ensembl chr 9:137,191,617...137,204,193 		JBrowse link
G TRIOBP TRIO and F-actin binding protein IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness 		ClinVar PMID:16385457 PMID:16385458 PMID:20510926 PMID:28492532 PMID:30303587 More... NCBI chr22:37,697,048...37,776,556
Ensembl chr22:37,697,048...37,776,556 		JBrowse link
G USH1C USH1 protein network component harmonin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness 		ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 More... NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416 		JBrowse link
G USH1G USH1 protein network component sans IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Deafness, autosomal recessive 		ClinVar PMID:25741868 PMID:30303587 NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256 		JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 More... NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
G USH2A-AS1 USH2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 More... NCBI chr 1:216,193,722...216,238,035
Ensembl chr 1:216,194,051...216,238,122 		JBrowse link
G WHRN whirlin IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,078...114,505,473 		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 IAGP ClinVar Annotator: match by term: PPIP5K2-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 100 		OMIM
ClinVar		 PMID:15538632 PMID:25741868 PMID:29590114 NCBI chr 5:103,120,301...103,212,799
Ensembl chr 5:103,120,149...103,212,799 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 101
ClinVar Annotator: match by term: Deafness, autosomal recessive 101 | ClinVar Annotator: match by term: GRXCR2-related condition 		ClinVar
OMIM		 PMID:24619944 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr 5:145,857,670...145,931,673
Ensembl chr 5:145,858,521...145,937,126 		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 EGFR pathway substrate 8, signaling adaptor IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 102
ClinVar Annotator: match by term: Deafness, autosomal recessive 102 | ClinVar Annotator: match by term: EPS8-related condition 		ClinVar
OMIM		 PMID:24033266 PMID:24741995 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr12:15,620,134...15,789,388
Ensembl chr12:15,620,134...15,882,329 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 103
ClinVar Annotator: match by term: CLIC5-related condition
ClinVar Annotator: match by term: CLIC5-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 103 		ClinVar
OMIM		 PMID:24033266 PMID:24781754 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 6:45,880,827...46,129,819
Ensembl chr 6:45,880,827...46,080,348 		JBrowse link
autosomal recessive nonsyndromic deafness 104 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 104 ClinVar PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More... NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G RIPOR2 RHO family interacting cell polarization regulator 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 104
ClinVar Annotator: match by term: Deafness, autosomal recessive 104 | ClinVar Annotator: match by term: RIPOR2-related condition 		ClinVar
OMIM		 PMID:24033266 PMID:24958875 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:24,804,284...25,042,168
Ensembl chr 6:24,804,282...25,042,170 		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 EGFR pathway substrate 8, signaling adaptor IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 106 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:15,620,134...15,789,388
Ensembl chr12:15,620,134...15,882,329 		JBrowse link
G EPS8L2 EPS8 signaling adaptor L2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 106
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 106
ClinVar Annotator: match by term: Deafness, autosomal recessive 106 | ClinVar Annotator: match by term: EPS8L2-related condition 		ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26282398 PMID:28281779 More... NCBI chr11:706,231...727,727
Ensembl chr11:694,438...727,727 		JBrowse link
G LOC130005076 ATAC-STARR-seq lymphoblastoid silent region 3016 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 106 ClinVar NCBI chr11:720,719...720,978 JBrowse link
G LOC130005078 ATAC-STARR-seq lymphoblastoid silent region 3018 IAGP ClinVar Annotator: match by term: EPS8L2-related condition ClinVar PMID:28492532 NCBI chr11:721,089...721,238 JBrowse link
G LOC130005080 ATAC-STARR-seq lymphoblastoid silent region 3020 IAGP ClinVar Annotator: match by term: EPS8L2-related condition ClinVar PMID:28492532 NCBI chr11:725,756...726,055 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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 107
ClinVar Annotator: match by term: Deafness, autosomal recessive 107 | ClinVar Annotator: match by term: WBP2-related condition 		OMIM
ClinVar		 PMID:25741868 PMID:26881968 PMID:28492532 NCBI chr17:75,845,699...75,856,436
Ensembl chr17:75,845,699...75,856,507 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 108
ClinVar Annotator: match by term: Deafness, autosomal recessive 108 | ClinVar Annotator: match by term: ROR1-related condition 		ClinVar
OMIM		 PMID:25741868 PMID:26467025 PMID:27162350 PMID:28492532 NCBI chr 1:63,774,017...64,181,498
Ensembl chr 1:63,774,017...64,181,498 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 109
ClinVar Annotator: match by term: ESRP1-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 109 | ClinVar Annotator: match by term: ESRP1-related condition 		ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:29107558 NCBI chr 8:94,641,174...94,707,466
Ensembl chr 8:94,641,074...94,707,466 		JBrowse link
autosomal recessive nonsyndromic deafness 110 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL049830.3 novel transcript, antisense to COCH IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 110 ClinVar PMID:24033266 PMID:25230692 PMID:25741868 PMID:28492532 PMID:29449721 More... NCBI chr14:30,876,179...30,889,808
Ensembl chr14:30,876,179...30,889,808 		JBrowse link
G COCH cochlin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 110 OMIM
ClinVar		 PMID:24033266 PMID:25230692 PMID:25741868 PMID:28492532 PMID:29449721 More... NCBI chr14:30,874,559...30,895,615
Ensembl chr14:30,874,514...30,895,065 		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 IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 111 | ClinVar Annotator: match by term: Deafness, autosomal recessive 111
ClinVar Annotator: match by term: Deafness, autosomal recessive 111 | ClinVar Annotator: match by term: MPZL2-related condition 		OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29961571 PMID:29982980 PMID:30311386 More... NCBI chr11:118,253,416...118,264,297
Ensembl chr11:118,253,416...118,264,536 		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 BDP1 general transcription factor IIIB subunit IAGP ClinVar Annotator: match by term: BDP1-related condition | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 112 | ClinVar Annotator: match by term: Deafness, autosomal recessive 112
ClinVar Annotator: match by term: BDP1-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 112 		OMIM
ClinVar		 PMID:24312468 PMID:25741868 PMID:26467025 NCBI chr 5:71,455,651...71,578,288
Ensembl chr 5:71,455,651...71,567,820 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 113 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29703829 More... NCBI chr19:44,699,151...44,710,718
Ensembl chr19:44,699,151...44,710,718 		JBrowse link
G CEACAM16-AS1 CEACAM16, CEACAM19 and PVR antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 113 ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29703829 More... NCBI chr19:44,699,038...44,725,184
Ensembl chr19:44,608,568...44,725,315 		JBrowse link
autosomal recessive nonsyndromic deafness 114 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRAP GRB2 related adaptor protein IAGP ClinVar Annotator: match by term: Hearing loss, autosomal recessive 114 OMIM
ClinVar		 PMID:25741868 PMID:30610177 NCBI chr17:19,020,656...19,051,373
Ensembl chr17:19,020,656...19,047,011 		JBrowse link
autosomal recessive nonsyndromic deafness 115 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPNS2 SPNS lysolipid transporter 2, sphingosine-1-phosphate IAGP ClinVar Annotator: match by term: Hearing loss, autosomal recessive 115
ClinVar Annotator: match by term: SPNS2-related condition
ClinVar Annotator: match by term: Hearing loss, autosomal recessive 115 | ClinVar Annotator: match by term: SPNS2-related condition 		OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr17:4,498,881...4,539,035
Ensembl chr17:4,498,881...4,539,035 		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 IAGP ClinVar Annotator: match by term: CLDN9-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 116 		OMIM
ClinVar		 PMID:25741868 PMID:30311386 PMID:31175426 PMID:34265170 PMID:35802133 More... NCBI chr16:3,012,923...3,014,505
Ensembl chr16:3,012,923...3,014,505 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 117 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLRN2 clarin 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 117
ClinVar Annotator: match by term: CLRN2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 117 		OMIM
ClinVar		 PMID:25741868 PMID:33496845 PMID:38243601 NCBI chr 4:17,515,165...17,527,104
Ensembl chr 4:17,515,165...17,527,104 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 119 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFG2B AFG2 AAA ATPase homolog B IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 119 OMIM
ClinVar		 PMID:25741868 PMID:26138355 PMID:28492532 PMID:34626583 NCBI chr15:45,402,336...45,421,415
Ensembl chr15:45,402,336...45,421,415 		JBrowse link
G LOC130056998 ATAC-STARR-seq lymphoblastoid silent region 6408 IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 119 ClinVar PMID:34626583 NCBI chr15:45,403,019...45,403,168 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 IAGP
EXP 		ClinVar Annotator: match by term: ATP2B2-related disorder
ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal recessive 12
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 12, modifier of 		OMIM
ClinVar
CTD		 PMID:15829536 PMID:22047666 PMID:25741868 PMID:26467025 PMID:27535533 More... NCBI chr 3:10,324,023...10,708,007
Ensembl chr 3:10,324,023...10,708,007 		JBrowse link
G C10orf105 chromosome 10 open reading frame 105 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 12
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 12
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 		ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824 		JBrowse link
G CDH23 cadherin related 23 IAGP
ISS
EXP 		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12
OMIM:601386
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CDH23-AS1 CDH23 antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 12
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 12
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 		ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:21940737 PMID:24033266 More... NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:24367894 PMID:25741868 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G LOC111982869 Sharpr-MPRA regulatory region 2121 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 12
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 		ClinVar PMID:11138009 PMID:19888295 PMID:21917145 PMID:21940737 PMID:24006325 More... NCBI chr10:71,805,832...71,806,126 JBrowse link
G PSAP prosaposin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 12
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 12 		ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G VSIR V-set immunoregulatory receptor IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:25741868 NCBI chr10:71,747,556...71,773,520
Ensembl chr10:71,747,556...71,773,520 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 120 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MINAR2 membrane integral NOTCH2 associated receptor 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 120 OMIM
ClinVar		 PMID:35727972 NCBI chr 5:129,748,094...129,766,732
Ensembl chr 5:129,748,094...129,766,732 		JBrowse link
G OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 120 ClinVar NCBI chr 1:228,208,044...228,378,876
Ensembl chr 1:228,208,044...228,378,876 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 121 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPR156 G protein-coupled receptor 156 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 121 OMIM
ClinVar		 PMID:25741868 PMID:37814107 NCBI chr 3:120,165,478...120,285,222
Ensembl chr 3:120,164,645...120,285,222 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 122 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 122 OMIM
ClinVar		 PMID:37943620 NCBI chr13:100,603,625...100,675,075
Ensembl chr13:100,603,625...100,675,093 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 123 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STX4 syntaxin 4 IAGP OMIM NCBI chr16:31,033,095...31,040,168
Ensembl chr16:31,032,889...31,042,975 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 124 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PKHD1L1 PKHD1 like 1 IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 124 ClinVar
OMIM		 PMID:38459354 NCBI chr 8:109,362,461...109,537,207
Ensembl chr 8:109,362,461...109,537,207 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 125 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GAS2 growth arrest specific 2 IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 125 OMIM
ClinVar		 PMID:33964205 NCBI chr11:22,626,002...22,813,055
Ensembl chr11:22,625,509...22,813,001 		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 IAGP
EXP 		ClinVar Annotator: match by term: Deafness, autosomal recessive 15
ClinVar Annotator: match by term: GIPC3-related condition
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95 | ClinVar Annotator: match by term: Deafness, autosomal recessive 15
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:9286457 PMID:17690910 PMID:21326233 PMID:21660509 PMID:23510777 More... NCBI chr19:3,585,478...3,593,541
Ensembl chr19:3,585,478...3,593,541 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:11687802 PMID:21681106 PMID:25741868 PMID:26011646 NCBI chr15:43,628,503...43,648,884
Ensembl chr15:43,628,503...43,668,118 		JBrowse link
G CKMT1A creatine kinase, mitochondrial 1A IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr15:43,692,786...43,699,222
Ensembl chr15:43,692,886...43,699,222
Ensembl chr15:43,692,886...43,699,222 		JBrowse link
G CKMT1B creatine kinase, mitochondrial 1B IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr15:43,592,857...43,599,406
Ensembl chr15:43,593,054...43,604,901
Ensembl chr15:43,593,054...43,604,901 		JBrowse link
G FRMD5 FERM domain containing 5 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr15:43,870,764...44,199,473
Ensembl chr15:43,870,761...44,195,271 		JBrowse link
G LOC130056948 ATAC-STARR-seq lymphoblastoid active region 9316 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:11687802 PMID:21681106 PMID:25741868 PMID:26011646 NCBI chr15:43,638,496...43,638,625 JBrowse link
G LOC130056949 ATAC-STARR-seq lymphoblastoid active region 9317 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:11687802 PMID:21681106 PMID:25741868 PMID:26011646 NCBI chr15:43,638,676...43,639,205 JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr15:43,746,438...43,773,278
Ensembl chr15:43,746,394...43,773,279 		JBrowse link
G PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr15:43,533,475...43,590,253
Ensembl chr15:43,533,462...43,590,208 		JBrowse link
G STRC stereocilin IAGP
ISS
EXP 		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 16 | ClinVar Annotator: match by term: Deafness, autosomal recessive 16
ClinVar Annotator: match by term: STRC-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 | ClinVar Annotator: match by term: STRC-related condition
OMIM:603720
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:11687802 PMID:18414213 PMID:21078986 PMID:21681106 PMID:22147502 More... NCBI chr15:43,599,563...43,618,800
Ensembl chr15:43,599,563...43,618,800 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 18
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18 | ClinVar Annotator: match by term: Deafness, autosomal recessive 18 		ClinVar PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416 		JBrowse link
G USH1G USH1 protein network component sans IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256 		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
IAGP
ISS 		ClinVar Annotator: match by term: Deafness, autosomal recessive 18A
ClinVar Annotator: match by term: Deafness, autosomal recessive 18A | ClinVar Annotator: match by term: USH1C-related condition
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18A
OMIM:602092 		ClinVar
MouseDO
OMIM
RGD		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... RGD:8694458 NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416 		JBrowse link
G USH1G USH1 protein network component sans IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 18A ClinVar PMID:25741868 PMID:28492532 NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256 		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 IAGP
ISS 		ClinVar Annotator: match by term: Deafness, autosomal recessive 18b
ClinVar Annotator: match by term: Deafness, autosomal recessive 18b | ClinVar Annotator: match by term: OTOG-related condition
OMIM:614945 		ClinVar
MouseDO
OMIM		 PMID:9536098 PMID:10655058 PMID:16199547 PMID:17576681 PMID:23122587 More... NCBI chr11:17,547,259...17,646,044
Ensembl chr11:17,547,259...17,647,150 		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 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A 		ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,403,669...20,525,857
Ensembl chr13:20,403,666...20,525,873 		JBrowse link
G EEF1AKMT1 EEF1A lysine methyltransferase 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,728,731...20,773,961
Ensembl chr13:20,728,731...20,773,961 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:19894250 PMID:25741868 PMID:29572252 PMID:30820731 PMID:30871974 More... NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G GJA3 gap junction protein alpha 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,138,255...20,161,565
Ensembl chr13:20,138,255...20,161,052 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3
OMIM:220290
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 		ClinVar
MouseDO
CTD
OMIM		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB3 gap junction protein beta 3 IAGP
EXP 		ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
CTD Direct Evidence: marker/mechanism 		ClinVar
OMIM
CTD		 PMID:12791041 PMID:19050930 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369 		JBrowse link
G GJB4 gap junction protein beta 4 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532 NCBI chr 1:34,759,740...34,762,327
Ensembl chr 1:34,759,740...34,762,327 		JBrowse link
G GJB6 gap junction protein beta 6 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
OMIM:220290
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:10471490 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 More... NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365 		JBrowse link
G IFT88 intraflagellar transport 88 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444 		JBrowse link
G IL17D interleukin 17D IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,701,513...20,723,098
Ensembl chr13:20,702,127...20,723,098 		JBrowse link
G LOC112163647 Sharpr-MPRA regulatory region 6807 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 		ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,506,870...20,507,164 JBrowse link
G LOC121466728 Sharpr-MPRA regulatory region 3329 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,534,370...20,534,664 JBrowse link
G LOC124849292 Sharpr-MPRA regulatory region 1468 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,717,550...20,717,844 JBrowse link
G LOC126861703 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:20748586-20749785 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,174,447...20,175,646 JBrowse link
G LOC126861704 BRD4-independent group 4 enhancer GRCh37_chr13:20953976-20955175 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A 		ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,379,837...20,381,036 JBrowse link
G LOC126861705 CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:20993166-20994365 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A 		ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,419,027...20,420,226 JBrowse link
G LOC130009312 ATAC-STARR-seq lymphoblastoid silent region 5150 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,160,783...20,160,872 JBrowse link
G LOC130009313 ATAC-STARR-seq lymphoblastoid silent region 5151 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,161,033...20,161,112 JBrowse link
G LOC130009314 ATAC-STARR-seq lymphoblastoid silent region 5152 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,161,343...20,161,702 JBrowse link
G LOC130009315 ATAC-STARR-seq lymphoblastoid active region 7417 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,219,572...20,219,751 JBrowse link
G LOC130009316 ATAC-STARR-seq lymphoblastoid active region 7418 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A 		ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,425,154...20,425,203 JBrowse link
G LOC130009317 ATAC-STARR-seq lymphoblastoid active region 7419 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A 		ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,425,214...20,425,453 JBrowse link
G LOC130009318 ATAC-STARR-seq lymphoblastoid active region 7420 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A 		ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,425,886...20,425,945 JBrowse link
G LOC130009319 ATAC-STARR-seq lymphoblastoid active region 7421 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A 		ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,426,006...20,426,065 JBrowse link
G LOC130009320 ATAC-STARR-seq lymphoblastoid active region 7422 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A 		ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,476,106...20,476,305 JBrowse link
G LOC130009321 ATAC-STARR-seq lymphoblastoid active region 7423 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A 		ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,476,376...20,476,425 JBrowse link
G LOC130009322 ATAC-STARR-seq lymphoblastoid silent region 5153 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A 		ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,525,533...20,526,082 JBrowse link
G LOC130009323 ATAC-STARR-seq lymphoblastoid active region 7424 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A 		ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,526,263...20,526,372 JBrowse link
G LOC130009324 ATAC-STARR-seq lymphoblastoid active region 7425 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A 		ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,528,721...20,528,830 JBrowse link
G LOC130009325 ATAC-STARR-seq lymphoblastoid silent region 5154 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,566,857...20,567,266 JBrowse link
G LOC130009326 ATAC-STARR-seq lymphoblastoid silent region 5155 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,703,081...20,703,160 JBrowse link
G LOC130009327 ATAC-STARR-seq lymphoblastoid silent region 5156 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,703,581...20,703,720 JBrowse link
G LOC130009328 ATAC-STARR-seq lymphoblastoid silent region 5157 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,704,011...20,704,520 JBrowse link
G LOC130009329 ATAC-STARR-seq lymphoblastoid active region 7426 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,773,316...20,773,535 JBrowse link
G LOC132090175 Neanderthal introgressed variant-containing enhancer experimental_32461 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A 		ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,273,378...20,273,547 JBrowse link
G MIR4499 microRNA 4499 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A 		ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,433,778...20,433,846
Ensembl chr13:20,433,778...20,433,846 		JBrowse link
G XPO4 exportin 4 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,777,329...20,902,774
Ensembl chr13:20,777,329...20,903,048 		JBrowse link
autosomal recessive nonsyndromic deafness 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRYL1 crystallin lambda 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,403,669...20,525,857
Ensembl chr13:20,403,666...20,525,873 		JBrowse link
G EEF1AKMT1 EEF1A lysine methyltransferase 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,728,731...20,773,961
Ensembl chr13:20,728,731...20,773,961 		JBrowse link
G GJA3 gap junction protein alpha 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,138,255...20,161,565
Ensembl chr13:20,138,255...20,161,052 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:3 PMID:2706105 PMID:2956987 PMID:8789457 PMID:9139825 More... NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB6 gap junction protein beta 6 IAGP
EXP 		ClinVar Annotator: match by term: Deafness, autosomal recessive 1b
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 1B | ClinVar Annotator: match by term: Deafness, autosomal recessive 1b
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:10471490 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 More... NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365 		JBrowse link
G IFT88 intraflagellar transport 88 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444 		JBrowse link
G IL17D interleukin 17D IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,701,513...20,723,098
Ensembl chr13:20,702,127...20,723,098 		JBrowse link
G LOC112163647 Sharpr-MPRA regulatory region 6807 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,506,870...20,507,164 JBrowse link
G LOC121466728 Sharpr-MPRA regulatory region 3329 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,534,370...20,534,664 JBrowse link
G LOC124849292 Sharpr-MPRA regulatory region 1468 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,717,550...20,717,844 JBrowse link
G LOC126861703 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:20748586-20749785 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,174,447...20,175,646 JBrowse link
G LOC126861704 BRD4-independent group 4 enhancer GRCh37_chr13:20953976-20955175 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,379,837...20,381,036 JBrowse link
G LOC126861705 CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:20993166-20994365 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,419,027...20,420,226 JBrowse link
G LOC130009312 ATAC-STARR-seq lymphoblastoid silent region 5150 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,160,783...20,160,872 JBrowse link
G LOC130009313 ATAC-STARR-seq lymphoblastoid silent region 5151 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,161,033...20,161,112 JBrowse link
G LOC130009314 ATAC-STARR-seq lymphoblastoid silent region 5152 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,161,343...20,161,702 JBrowse link
G LOC130009315 ATAC-STARR-seq lymphoblastoid active region 7417 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,219,572...20,219,751 JBrowse link
G LOC130009316 ATAC-STARR-seq lymphoblastoid active region 7418 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,425,154...20,425,203 JBrowse link
G LOC130009317 ATAC-STARR-seq lymphoblastoid active region 7419 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,425,214...20,425,453 JBrowse link
G LOC130009318 ATAC-STARR-seq lymphoblastoid active region 7420 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,425,886...20,425,945 JBrowse link
G LOC130009319 ATAC-STARR-seq lymphoblastoid active region 7421 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,426,006...20,426,065 JBrowse link
G LOC130009320 ATAC-STARR-seq lymphoblastoid active region 7422 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,476,106...20,476,305 JBrowse link
G LOC130009321 ATAC-STARR-seq lymphoblastoid active region 7423 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,476,376...20,476,425 JBrowse link
G LOC130009322 ATAC-STARR-seq lymphoblastoid silent region 5153 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,525,533...20,526,082 JBrowse link
G LOC130009323 ATAC-STARR-seq lymphoblastoid active region 7424 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,526,263...20,526,372 JBrowse link
G LOC130009324 ATAC-STARR-seq lymphoblastoid active region 7425 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,528,721...20,528,830 JBrowse link
G LOC130009325 ATAC-STARR-seq lymphoblastoid silent region 5154 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,566,857...20,567,266 JBrowse link
G LOC130009326 ATAC-STARR-seq lymphoblastoid silent region 5155 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,703,081...20,703,160 JBrowse link
G LOC130009327 ATAC-STARR-seq lymphoblastoid silent region 5156 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,703,581...20,703,720 JBrowse link
G LOC130009328 ATAC-STARR-seq lymphoblastoid silent region 5157 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,704,011...20,704,520 JBrowse link
G LOC130009329 ATAC-STARR-seq lymphoblastoid active region 7426 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,773,316...20,773,535 JBrowse link
G LOC132090175 Neanderthal introgressed variant-containing enhancer experimental_32461 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,273,378...20,273,547 JBrowse link
G MIR4499 microRNA 4499 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,433,778...20,433,846
Ensembl chr13:20,433,778...20,433,846 		JBrowse link
G XPO4 exportin 4 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,777,329...20,902,774
Ensembl chr13:20,777,329...20,903,048 		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 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Deafness, autosomal recessive 2
ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2
ClinVar Annotator: match by term: Deafness, autosomal recessive 2 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2
OMIM:600060
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
autosomal recessive nonsyndromic deafness 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126861365 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:121000154-121001353 IAGP ClinVar Annotator: match by term: Deafness, neurosensory autosomal recessive 21
ClinVar Annotator: match by term: Deafness, autosomal recessive 21 | ClinVar Annotator: match by term: TECTA-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 21 | ClinVar Annotator: match by term: Deafness, neurosensory autosomal recessive 21 | ClinVar Annotator: match by term: TECTA-related condition 		ClinVar PMID:9949200 PMID:21520338 PMID:24033266 PMID:25262649 PMID:25741868 More... NCBI chr11:121,129,445...121,130,644 JBrowse link
G TBCEL-TECTA TBCEL-TECTA readthrough IAGP ClinVar Annotator: match by term: Deafness, neurosensory autosomal recessive 21
ClinVar Annotator: match by term: TECTA-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 21 | ClinVar Annotator: match by term: TECTA-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 21 | ClinVar Annotator: match by term: Deafness, neurosensory autosomal recessive 21 		ClinVar PMID:9536098 PMID:9949200 PMID:11087000 PMID:12746400 PMID:17431902 More... NCBI chr11:121,024,102...121,191,490
Ensembl chr11:121,024,125...121,113,108 		JBrowse link
G TECTA tectorin alpha IAGP
EXP 		ClinVar Annotator: match by term: Deafness, neurosensory autosomal recessive 21
ClinVar Annotator: match by term: Deafness, autosomal recessive 21
ClinVar Annotator: match by term: Deafness, autosomal recessive 21 | ClinVar Annotator: match by term: TECTA-related condition
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:9536098 PMID:9949200 PMID:11087000 PMID:12746400 PMID:17431902 More... NCBI chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490 		JBrowse link
autosomal recessive nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGSF6 immunoglobulin superfamily member 6 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr16:21,639,550...21,652,608
Ensembl chr16:21,639,550...21,652,608 		JBrowse link
G LOC130058625 ATAC-STARR-seq lymphoblastoid active region 10558 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 NCBI chr16:21,645,546...21,645,725 JBrowse link
G LOC130058626 ATAC-STARR-seq lymphoblastoid active region 10559 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 NCBI chr16:21,658,237...21,658,376 JBrowse link
G LOC130058627 ATAC-STARR-seq lymphoblastoid active region 10560 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 NCBI chr16:21,703,962...21,704,051 JBrowse link
G METTL9 methyltransferase 9, His-X-His N1(pi)-histidine IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr16:21,597,208...21,657,471
Ensembl chr16:21,597,218...21,657,471 		JBrowse link
G NPIPB4 nuclear pore complex interacting protein family member B4 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr16:21,834,582...21,857,756
Ensembl chr16:21,834,563...21,880,827 		JBrowse link
G OTOA otoancorin IAGP
ISS
EXP 		ClinVar Annotator: match by term: Deafness, autosomal recessive 22
ClinVar Annotator: match by term: OTOA-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 22 | ClinVar Annotator: match by term: OTOA-related condition
OMIM:607039
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:11972037 PMID:16199547 PMID:17576681 PMID:19888295 More... NCBI chr16:21,663,968...21,760,729
Ensembl chr16:21,663,968...21,761,935 		JBrowse link
G UQCRC2 ubiquinol-cytochrome c reductase core protein 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr16:21,953,361...21,983,660
Ensembl chr16:21,953,288...21,983,660 		JBrowse link
autosomal recessive nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL353784.1 novel transcript, antisense to PCDH15 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 23 ClinVar PMID:11398101 PMID:11487575 PMID:14570705 PMID:25741868 PMID:26166082 More... NCBI chr10:54,486,230...54,656,051
Ensembl chr10:54,486,230...54,656,051 		JBrowse link
G PCDH15 protocadherin related 15 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Deafness, autosomal recessive 23
OMIM:609533
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942 		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 IAGP
EXP 		ClinVar Annotator: match by term: Deafness, autosomal recessive 24
ClinVar Annotator: match by term: Deafness, autosomal recessive 24 | ClinVar Annotator: match by term: RDX-related condition
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:17226784 PMID:19215054 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr11:110,174,922...110,296,614
Ensembl chr11:109,864,295...110,296,712 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 25
ClinVar Annotator: match by term: GRXCR1-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 25 | ClinVar Annotator: match by term: GRXCR1-related condition 		ClinVar
OMIM		 PMID:16380907 PMID:20137774 PMID:20137778 PMID:24033266 PMID:25741868 More... NCBI chr 4:42,892,713...43,030,658
Ensembl chr 4:42,892,713...43,030,658 		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 IAGP
EXP 		ClinVar Annotator: match by term: Deafness, autosomal recessive 26
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:11101839 PMID:25741868 PMID:29408807 NCBI chr 4:143,336,876...143,474,565
Ensembl chr 4:143,336,876...143,474,565 		JBrowse link
G LOC126807172 MED14-independent group 3 enhancer GRCh37_chr4:144358834-144360033 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 26 ClinVar NCBI chr 4:143,437,681...143,438,880 JBrowse link
autosomal recessive nonsyndromic deafness 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126863145 CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:38150829-38152028 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 28
ClinVar Annotator: match by term: TRIOBP-related condition 		ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr22:37,754,822...37,756,021 JBrowse link
G TRIO trio Rho guanine nucleotide exchange factor IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 28 ClinVar PMID:25741868 PMID:28492532 PMID:32109419 NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128 		JBrowse link
G TRIOBP TRIO and F-actin binding protein IAGP
ISS
EXP 		ClinVar Annotator: match by term: Deafness, autosomal recessive 28
ClinVar Annotator: match by term: Deafness, autosomal recessive 28 | ClinVar Annotator: match by term: TRIOBP-related condition
OMIM:609823
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:16199547 PMID:16385457 PMID:16385458 PMID:20510926 PMID:23967202 More... NCBI chr22:37,697,048...37,776,556
Ensembl chr22:37,697,048...37,776,556 		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 IAGP
ISS 		ClinVar Annotator: match by term: Deafness, autosomal recessive 29
ClinVar Annotator: match by term: CLDN14-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 29
OMIM:614035 		ClinVar
MouseDO
OMIM		 PMID:11163249 PMID:15880785 PMID:22246673 PMID:23235333 PMID:23590985 More... NCBI chr21:36,460,621...36,576,569
Ensembl chr21:36,460,621...36,576,569 		JBrowse link
G CLDN14-AS1 CLDN14 antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 29
ClinVar Annotator: match by term: CLDN14-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 29 		ClinVar PMID:11163249 PMID:15880785 PMID:22246673 PMID:23235333 PMID:23590985 More... NCBI chr21:36,430,325...36,498,526 JBrowse link
autosomal recessive nonsyndromic deafness 3 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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 3 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:33111345 NCBI chr19:44,699,151...44,710,718
Ensembl chr19:44,699,151...44,710,718 		JBrowse link
G CEACAM16-AS1 CEACAM16, CEACAM19 and PVR antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 3 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:33111345 NCBI chr19:44,699,038...44,725,184
Ensembl chr19:44,608,568...44,725,315 		JBrowse link
G COASY Coenzyme A synthase IAGP ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3 ClinVar PMID:28492532 NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277 		JBrowse link
G KIFBP kinesin family binding protein IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:68,988,803...69,016,982
Ensembl chr10:68,988,803...69,043,544 		JBrowse link
G LOC105371566 uncharacterized LOC105371566 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 ClinVar NCBI chr17:18,107,691...18,117,561 JBrowse link
G LOC130003959 ATAC-STARR-seq lymphoblastoid active region 3474 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:68,988,595...68,988,974 JBrowse link
G LOC130060416 ATAC-STARR-seq lymphoblastoid silent region 8266 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 ClinVar PMID:28492532 NCBI chr17:18,154,079...18,154,128 JBrowse link
G LOC130060418 ATAC-STARR-seq lymphoblastoid active region 11828 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 ClinVar PMID:17546645 PMID:23208854 PMID:25741868 PMID:28492532 PMID:30311386 More... NCBI chr17:18,161,221...18,161,360 JBrowse link
G MYO15A myosin XVA IAGP
ISS
EXP 		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 | ClinVar Annotator: match by term: MYO15A-related condition
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 | ClinVar Annotator: match by term: Deafness, autosomal recessive 3 | ClinVar Annotator: match by term: MYO15A-related condition
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 | ClinVar Annotator: match by term: Deafness, autosomal recessive 3 | ClinVar Annotator: match by term: MYO15A-related condition | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3
OMIM:600316
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:2574186 PMID:7616538 PMID:7704031 PMID:9536098 PMID:9603736 More... NCBI chr17:18,108,756...18,179,800
Ensembl chr17:18,108,756...18,179,802 		JBrowse link
G OTOF otoferlin IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 ClinVar PMID:25741868 NCBI chr 2:26,457,203...26,558,756
Ensembl chr 2:26,457,203...26,558,756 		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 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Deafness, autosomal recessive 30
ClinVar Annotator: match by term: Deafness, autosomal recessive 30 | ClinVar Annotator: match by term: MYO3A-related condition
OMIM:607101
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:12032315 PMID:16199547 PMID:17344846 PMID:17576681 More... NCBI chr10:25,934,229...26,212,532
Ensembl chr10:25,934,229...26,212,532 		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 IAGP
EXP
ISS 		ClinVar Annotator: match by term: Deafness, autosomal recessive 31
ClinVar Annotator: match by term: Deafness, autosomal recessive 31 | ClinVar Annotator: match by term: WHIRLER, MOUSE, HOMOLOG OF | ClinVar Annotator: match by term: WHRN-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 31 | ClinVar Annotator: match by term: WHRN-related condition
CTD Direct Evidence: marker/mechanism
OMIM:607084 		ClinVar
CTD
MouseDO
OMIM		 PMID:9536098 PMID:11973626 PMID:12833159 PMID:15841483 PMID:16199547 More... NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,078...114,505,473 		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 EXP
IAGP
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CDC14A-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 32
ClinVar Annotator: match by term: Deafness, autosomal recessive 105 | ClinVar Annotator: match by term: Deafness, autosomal recessive 32
OMIM:608653 		CTD
ClinVar
MouseDO
OMIM		 PMID:12634867 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27259055 More... NCBI chr 1:100,345,001...100,520,277
Ensembl chr 1:100,325,629...100,520,277 		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 IAGP
EXP 		ClinVar Annotator: match by term: Deafness, autosomal recessive 35
ClinVar Annotator: match by term: ESRRB-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 35 | ClinVar Annotator: match by term: ESRRB-related condition
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:12529709 PMID:16199547 PMID:18179891 PMID:22951369 PMID:23767834 More... NCBI chr14:76,310,777...76,501,837
Ensembl chr14:76,310,712...76,501,837 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 36, without vestibular involvement
ClinVar Annotator: match by term: Deafness, without vestibular involvement, autosomal dominant
ClinVar Annotator: match by term: Deafness, autosomal recessive 36, with or without vestibular involvement 		ClinVar
OMIM		 PMID:9763424 PMID:15286153 PMID:15930085 PMID:18973245 PMID:24033266 More... NCBI chr 1:6,424,776...6,461,370
Ensembl chr 1:6,424,776...6,461,367 		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 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Deafness, autosomal recessive 37
ClinVar Annotator: match by term: Deafness, autosomal recessive 37 | ClinVar Annotator: match by term: MYO6-related condition
OMIM:607821
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11167014 PMID:12687499 PMID:16199547 PMID:17576681 More... NCBI chr 6:75,749,239...75,919,537
Ensembl chr 6:75,749,201...75,919,537 		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 IAGP
ISS
EXP 		DNA:deletions,mutation:intron,exon:
ClinVar Annotator: match by term: Deafness, autosomal recessive 39 | ClinVar Annotator: match by term: HGF-related condition
OMIM:608265
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:18564920 PMID:19576567 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:8548545 NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438 		JBrowse link
autosomal recessive nonsyndromic deafness 4 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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 4 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:33111345 NCBI chr19:44,699,151...44,710,718
Ensembl chr19:44,699,151...44,710,718 		JBrowse link
G CEACAM16-AS1 CEACAM16, CEACAM19 and PVR antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 4 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:33111345 NCBI chr19:44,699,038...44,725,184
Ensembl chr19:44,608,568...44,725,315 		JBrowse link
G FOXI1 forkhead box I1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: FOXI1-related condition | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 		OMIM
ClinVar		 PMID:17503324 PMID:20621367 PMID:20809947 PMID:22285650 PMID:24860705 More... NCBI chr 5:170,105,897...170,109,737
Ensembl chr 5:170,105,897...170,109,734 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP ClinVar Annotator: match by term: KCNJ10-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4
ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-related disorder | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 		OMIM
ClinVar		 PMID:19289823 PMID:19426954 PMID:20651251 PMID:20678478 PMID:20807765 More... NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483 		JBrowse link
G LOC123956210 Sharpr-MPRA regulatory region 3291 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
ClinVar Annotator: match by term: SLC26A4-related disorder
ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 		ClinVar PMID:9618166 PMID:9618167 PMID:10190331 PMID:11405873 PMID:11748854 More... NCBI chr 7:107,709,864...107,710,158 JBrowse link
G SLC26A4 solute carrier family 26 member 4 IAGP
ISO 		DNA:missense mutations, insertions, snp:multiple (human)
ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
ClinVar Annotator: match by term: SLC26A4-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4
ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: SLC26A4-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: SLC26A4-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: SLC26A4-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4
DNA:mutations:multiple (human)
DNA:transition:intron:g.IVS7-2A>G (human) 		ClinVar
OMIM
RGD		 PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More... RGD:7411543, RGD:7421508, RGD:7411671, RGD:7411556 NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809 		JBrowse link
G SLC26A4-AS1 SLC26A4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
ClinVar Annotator: match by term: SLC26A4-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 		ClinVar PMID:9536098 PMID:11317356 PMID:11748854 PMID:11919333 PMID:12642503 More... NCBI chr 7:107,656,516...107,661,798
Ensembl chr 7:107,650,260...107,662,204 		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 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Deafness, autosomal recessive 42
ClinVar Annotator: match by term: ILDR1-related condition
OMIM:609646
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:15641023 PMID:21255762 PMID:24033266 PMID:25668204 PMID:25741868 More... NCBI chr 3:121,987,323...122,061,655
Ensembl chr 3:121,987,323...122,022,247 		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 IAGP
EXP 		ClinVar Annotator: match by term: Deafness, autosomal recessive 44
ClinVar Annotator: match by term: ADCY1-related condition
ClinVar Annotator: match by term: ADCY1-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 44
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:15583425 PMID:24033266 PMID:24482543 PMID:24824130 PMID:25741868 More... NCBI chr 7:45,574,140...45,723,116
Ensembl chr 7:45,574,140...45,723,116 		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 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Deafness, autosomal recessive 48
ClinVar Annotator: match by term: CIB2-related condition
ClinVar Annotator: match by term: CIB2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 48
OMIM:609439
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:2911222 PMID:23023331 PMID:24033266 PMID:25741868 PMID:26173970 More... NCBI chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535 		JBrowse link
G LOC130057683 ATAC-STARR-seq lymphoblastoid silent region 6705 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 48 ClinVar PMID:25741868 NCBI chr15:78,131,150...78,131,669 JBrowse link
G SH2D7 SH2 domain containing 7 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 48 ClinVar PMID:25741868 NCBI chr15:78,090,122...78,104,362
Ensembl chr15:78,077,808...78,104,370 		JBrowse link
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 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Deafness, autosomal recessive 49
ClinVar Annotator: match by term: Deafness, neurosensory, autosomal recessive 49
ClinVar Annotator: match by term: Deafness, autosomal recessive 49 | ClinVar Annotator: match by term: MARVELD2-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 49 | ClinVar Annotator: match by term: Deafness, neurosensory, autosomal recessive 49 | ClinVar Annotator: match by term: MARVELD2-related condition
OMIM:610153
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:16199547 PMID:17186462 PMID:18084694 PMID:22097895 PMID:23767834 More... NCBI chr 5:69,415,116...69,444,330
Ensembl chr 5:69,415,065...69,444,330 		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 IAGP
EXP 		ClinVar Annotator: match by term: Deafness, autosomal recessive 53
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:9536098 PMID:10677296 PMID:15558753 PMID:16033917 PMID:16199547 More... NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 57
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 57 | ClinVar Annotator: match by term: Deafness, autosomal recessive 57 		ClinVar
OMIM		 PMID:16199547 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26416264 More... NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295 		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 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Deafness, autosomal recessive 59
OMIM:610220
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:16804542 PMID:17301963 PMID:17329413 PMID:17373699 PMID:17718865 More... NCBI chr 2:178,451,378...178,462,102
Ensembl chr 2:178,451,346...178,462,102 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 59 ClinVar PMID:25741868 NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512 		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 IAGP
EXP 		ClinVar Annotator: match by term: Deafness, autosomal recessive 6
ClinVar Annotator: match by term: Deafness, autosomal recessive 6 | ClinVar Annotator: match by term: TMIE-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 6 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 6
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:8593615 PMID:12145746 PMID:16389551 PMID:19438934 PMID:24033266 More... NCBI chr 3:46,693,778...46,710,886
Ensembl chr 3:46,694,528...46,710,886 		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 IAGP ClinVar Annotator: match by term: SLC26A5-related condition
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 61
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 61 | ClinVar Annotator: match by term: SLC26A5-related condition 		OMIM
ClinVar		 PMID:12239568 PMID:12719379 PMID:16086836 PMID:24033266 PMID:24164807 More... NCBI chr 7:103,352,730...103,446,207
Ensembl chr 7:103,352,730...103,446,207 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 63
ClinVar Annotator: match by term: Deafness, autosomal recessive 63 | ClinVar Annotator: match by term: LRTOMT-related condition 		ClinVar PMID:24033266 PMID:25741868 PMID:25788562 PMID:26467025 PMID:28492532 More... NCBI chr11:72,106,372...72,112,780
Ensembl chr11:72,106,378...72,112,780 		JBrowse link
G LRRC51 leucine rich repeat containing 51 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 63
ClinVar Annotator: match by term: Deafness, autosomal recessive 63 | ClinVar Annotator: match by term: LRTOMT-related condition 		ClinVar PMID:24033266 PMID:25741868 NCBI chr11:72,080,850...72,096,895
Ensembl chr11:72,080,337...72,096,895 		JBrowse link
G LRTOMT leucine rich transmembrane and O-methyltransferase domain containing IAGP
ISS
EXP 		ClinVar Annotator: match by term: Deafness, autosomal recessive 63
ClinVar Annotator: match by term: Deafness, autosomal recessive 63 | ClinVar Annotator: match by term: LRTOMT-related condition
OMIM:611451
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:17211611 PMID:17576681 PMID:18794526 PMID:18953341 More... NCBI chr11:72,080,850...72,110,782
Ensembl chr11:72,080,331...72,110,782 		JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693 		JBrowse link
G TOMT transmembrane O-methyltransferase IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 63
ClinVar Annotator: match by term: Deafness, autosomal recessive 63 | ClinVar Annotator: match by term: LRTOMT-related condition 		ClinVar PMID:9536098 PMID:17211611 PMID:17576681 PMID:18794526 PMID:18953341 More... NCBI chr11:72,105,924...72,109,596
Ensembl chr11:72,105,924...72,109,596 		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 IAGP
EXP 		DNA:missense mutation:cds:p.Q424P (human)
ClinVar Annotator: match by term: Deafness, autosomal recessive 66
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:16199547 PMID:16244493 PMID:23677054 PMID:23746548 PMID:25557784 More... RGD:10412291 NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059 		JBrowse link
G KAAG1 kidney associated DCDC2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 66 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:24,356,903...24,358,285
Ensembl chr 6:24,356,903...24,358,285 		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 IAGP
EXP 		ClinVar Annotator: match by term: Deafness, autosomal recessive 67
ClinVar Annotator: match by term: Deafness, autosomal recessive 67 | ClinVar Annotator: match by term: LHFPL5-related condition
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:16459341 PMID:16752389 PMID:24033266 PMID:25741868 PMID:27148795 More... NCBI chr 6:35,805,352...35,824,070
Ensembl chr 6:35,797,206...35,845,397 		JBrowse link
G LOC129996260 ATAC-STARR-seq lymphoblastoid silent region 17101 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 67 ClinVar NCBI chr 6:35,805,221...35,805,390 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 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Deafness, autosomal recessive 68
ClinVar Annotator: match by term: S1PR2-related condition
OMIM:610419
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:16703383 PMID:24033266 PMID:24824130 PMID:25741868 PMID:26467025 More... NCBI chr19:10,221,433...10,231,331
Ensembl chr19:10,221,433...10,231,331 		JBrowse link
autosomal recessive nonsyndromic deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 7 ClinVar PMID:16449806 PMID:19461658 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G OTOA otoancorin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 7 ClinVar PMID:35802133 PMID:36633841 NCBI chr16:21,663,968...21,760,729
Ensembl chr16:21,663,968...21,761,935 		JBrowse link
G TMC1 transmembrane channel like 1 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Deafness, autosomal recessive 7
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 | ClinVar Annotator: match by term: Deafness, autosomal recessive 7
OMIM:600974
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:11850618 PMID:15605408 PMID:16134132 PMID:16199547 More... NCBI chr 9:72,521,608...72,838,297
Ensembl chr 9:72,521,608...72,838,297 		JBrowse link
autosomal recessive nonsyndromic deafness 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129933770 ATAC-STARR-seq lymphoblastoid active region 15785 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 70 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:55,693,664...55,693,783 JBrowse link
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 70 ClinVar
OMIM		 PMID:11080643 PMID:23084290 PMID:23084291 PMID:24088041 PMID:25326635 More... NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863 		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 IAGP
ISS 		ClinVar Annotator: match by term: Deafness, autosomal recessive 74
ClinVar Annotator: match by term: MSRB3-related condition
OMIM:613718 		ClinVar
MouseDO
OMIM		 PMID:19650862 PMID:21185009 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr12:65,278,683...65,466,907
Ensembl chr12:65,278,643...65,491,430 		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 IAGP ClinVar Annotator: match by term: SYNE4-related hearing loss
ClinVar Annotator: match by term: Deafness, autosomal recessive 76
ClinVar Annotator: match by term: Deafness, autosomal recessive 76 | ClinVar Annotator: match by term: SYNE4-related condition 		OMIM
ClinVar		 PMID:16199547 PMID:23348741 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr19:36,003,307...36,008,813
Ensembl chr19:36,003,307...36,008,813 		JBrowse link
autosomal recessive nonsyndromic deafness 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOXHD1 lipoxygenase homology PLAT domains 1 IAGP
EXP 		ClinVar Annotator: match by term: Deafness, autosomal recessive 77
ClinVar Annotator: match by term: Deafness, autosomal recessive 77 | ClinVar Annotator: match by term: LOXHD1-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16936105 PMID:17576681 PMID:19732867 More... NCBI chr18:46,476,961...46,657,220
Ensembl chr18:46,476,972...46,657,220 		JBrowse link
autosomal recessive nonsyndromic deafness 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130003092 ATAC-STARR-seq lymphoblastoid silent region 20589 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 79 ClinVar PMID:25741868 NCBI chr 9:137,200,343...137,200,412 JBrowse link
G LOC130003093 ATAC-STARR-seq lymphoblastoid silent region 20590 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 79 ClinVar NCBI chr 9:137,200,503...137,200,972 JBrowse link
G TMEM203 transmembrane protein 203 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 79 ClinVar PMID:25741868 NCBI chr 9:137,204,082...137,205,648
Ensembl chr 9:137,204,082...137,205,648 		JBrowse link
G TPRN taperin IAGP
ISS
EXP 		ClinVar Annotator: match by term: Deafness, autosomal recessive 79
ClinVar Annotator: match by term: Deafness, autosomal recessive 79 | ClinVar Annotator: match by term: TPRN-related condition
OMIM:613307
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:20170898 PMID:20170899 PMID:24033266 PMID:25741868 PMID:26969326 More... NCBI chr 9:137,191,619...137,200,741
Ensembl chr 9:137,191,617...137,204,193 		JBrowse link
autosomal recessive nonsyndromic deafness 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB3 gap junction protein beta 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 10 ClinVar PMID:25741868 NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369 		JBrowse link
G TMPRSS3 transmembrane serine protease 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 8
ClinVar Annotator: match by term: Deafness, autosomal recessive 10
ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 8
ClinVar Annotator: match by term: Deafness, autosomal recessive 10 | ClinVar Annotator: match by term: Deafness, autosomal recessive 8
ClinVar Annotator: match by term: TMPRSS3-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 10 | ClinVar Annotator: match by term: TMPRSS3-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 8 | ClinVar Annotator: match by term: TMPRSS3-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 10 | ClinVar Annotator: match by term: Deafness, autosomal recessive 8 | ClinVar Annotator: match by term: TMPRSS3-related condition 		ClinVar
OMIM		 PMID:3285355 PMID:3459936 PMID:9536098 PMID:11137999 PMID:11424922 More... NCBI chr21:42,371,890...42,396,052
Ensembl chr21:42,371,887...42,396,091 		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 IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION | ClinVar Annotator: match by term: Deafness, autosomal recessive 84 OMIM
ClinVar		 PMID:20346435 PMID:25557914 PMID:25741868 PMID:26467025 PMID:29309402 More... NCBI chr12:80,444,235...80,680,273
Ensembl chr12:80,402,178...80,680,273 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 84b
ClinVar Annotator: match by term: Deafness, autosomal recessive 84b | ClinVar Annotator: match by term: OTOGL-related condition 		ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 PMID:21931168 More... NCBI chr12:80,099,537...80,380,880
Ensembl chr12:80,099,537...80,380,880 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 86 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr16:2,429,447...2,458,854
Ensembl chr16:2,429,394...2,458,854 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 86
ClinVar Annotator: match by term: Deafness , autosomal recessive 86 		ClinVar
OMIM		 PMID:22211675 PMID:22277662 PMID:23526554 PMID:24033266 PMID:24291220 More... NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671 		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 IAGP
ISS 		ClinVar Annotator: match by term: Deafness, autosomal recessive 88
OMIM:615429 		OMIM
ClinVar
MouseDO		 PMID:24039609 PMID:25741868 PMID:28492532 NCBI chr 2:85,354,769...85,391,748
Ensembl chr 2:85,354,394...85,391,752 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 89 OMIM
ClinVar		 PMID:21181198 PMID:21427441 PMID:23596069 PMID:23768514 PMID:24033266 More... NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		JBrowse link
G LOC126862402 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:75663368-75664567 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 89 ClinVar PMID:21427441 PMID:25741868 PMID:28492532 PMID:28496994 PMID:28887846 More... NCBI chr16:75,629,470...75,630,669 JBrowse link
autosomal recessive nonsyndromic deafness 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G CEP135 centrosomal protein 135 IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:28866084 NCBI chr 4:55,948,945...56,033,361
Ensembl chr 4:55,948,871...56,033,361 		JBrowse link
G COQ8A coenzyme Q8A IAGP ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 ClinVar PMID:24218524 PMID:25326637 PMID:26467025 PMID:28492532 PMID:32743982 More... NCBI chr 1:226,940,294...226,987,544
Ensembl chr 1:226,940,286...226,987,544 		JBrowse link
G DIAPH1 diaphanous related formin 1 IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		JBrowse link
G H1-4 H1.4 linker histone, cluster member IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:25741868 PMID:28475857 PMID:29704315 PMID:31130284 PMID:31400068 More... NCBI chr 6:26,156,329...26,157,115
Ensembl chr 6:26,156,329...26,157,115 		JBrowse link
G IGSF6 immunoglobulin superfamily member 6 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr16:21,639,550...21,652,608
Ensembl chr16:21,639,550...21,652,608 		JBrowse link
G LOC112840921 BRD4-independent group 4 enhancer GRCh37_chr2:26685720-26686919 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar Annotator: match by term: OTOF-related condition 		ClinVar PMID:16199547 PMID:18381613 PMID:19250381 PMID:19461658 PMID:20224275 More... NCBI chr 2:26,462,852...26,464,051 JBrowse link
G LOC129933334 ATAC-STARR-seq lymphoblastoid active region 15473 IAGP ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9
ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar Annotator: match by term: OTOF-related condition 		ClinVar PMID:18381613 PMID:19250381 PMID:20301429 PMID:22575033 PMID:24033266 More... NCBI chr 2:26,477,559...26,477,748 JBrowse link
G LOC129933336 ATAC-STARR-seq lymphoblastoid silent region 11274 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar Annotator: match by term: OTOF-related condition 		ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 2:26,503,710...26,503,839 JBrowse link
G METTL9 methyltransferase 9, His-X-His N1(pi)-histidine IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr16:21,597,208...21,657,471
Ensembl chr16:21,597,218...21,657,471 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 More... NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MYO15A myosin XVA IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 PMID:28492532 PMID:28964305 NCBI chr17:18,108,756...18,179,800
Ensembl chr17:18,108,756...18,179,802 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:26467025 PMID:28492532 PMID:29952689 PMID:30201499 PMID:33884488 More... NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G OTOA otoancorin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr16:21,663,968...21,760,729
Ensembl chr16:21,663,968...21,761,935 		JBrowse link
G OTOF otoferlin IAGP
ISS
EXP
ISO 		DNA:nonsense mutation:cds:p.Y730X (human)
ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar Annotator: match by term: Deafness, autosomal recessive 9 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 | ClinVar Annotator: match by term: OTOF-related condition
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder | ClinVar Annotator: match by term: Deafness, autosomal recessive 9 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 | ClinVar Annotator: match by term: OTOF-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 9 | ClinVar Annotator: match by term: OTOF-related condition
OMIM:601071
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Auditory neuropathy, autosomal recessive, 1
DNA:duplication:cds:c.1981dupG (human)
DNA:missense mutation:cds:p.D1767G (mouse)
DNA:missense mutation:cds:p.R1939Q (human)
DNA:snps, deletion:cds:multiple (human)
associated with Fever;DNA:missense mutation, deletion:p.R1157Q, c.5410_5412delGAG (human)
DNA:missense mutation:cds:p.L1011P (human)
DNA:snp:intron:IVS8-2A>G (human)
DNA:nonsense mutation:cds:p.Q829X (human) 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:8789454 PMID:9536098 PMID:9657592 PMID:10192385 PMID:10878664 More... RGD:9479153, RGD:9585724, RGD:9491826, RGD:9491826, RGD:9491386, RGD:9479161, RGD:9479157, RGD:737640, RGD:9479156 NCBI chr 2:26,457,203...26,558,756
Ensembl chr 2:26,457,203...26,558,756 		JBrowse link
G PLP1 proteolipid protein 1 IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:130,110,623...130,184,870
Ensembl chr  X:130,171,962...130,184,870 		JBrowse link
G RAB9B RAB9B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:103,776,324...103,832,257
Ensembl chr  X:103,822,327...103,832,257 		JBrowse link
G RAI1 retinoic acid induced 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 PMID:27082237 PMID:28492532 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G SLC17A8 solute carrier family 17 member 8 IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:27068579 PMID:28492532 NCBI chr12:100,357,074...100,422,055
Ensembl chr12:100,357,074...100,422,055 		JBrowse link
G SLC52A2 solute carrier family 52 member 2 IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr 8:144,358,552...144,361,272
Ensembl chr 8:144,333,957...144,361,286 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671 		JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:24706558 PMID:24850488 PMID:24974158 PMID:25168210 PMID:25356970 More... NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848 		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 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 91
ClinVar Annotator: match by term: SERPINB6-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 91 		ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:20451170 PMID:24033266 PMID:25741868 More... NCBI chr 6:2,948,159...2,971,793
Ensembl chr 6:2,948,159...2,972,165 		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 IAGP
ISS 		ClinVar Annotator: match by term: CABP2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 93
OMIM:614899 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:17576681 PMID:22981119 PMID:24033266 PMID:25741868 More... NCBI chr11:67,518,912...67,523,446
Ensembl chr11:67,518,912...67,524,517 		JBrowse link
autosomal recessive nonsyndromic deafness 94 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130006506 ATAC-STARR-seq lymphoblastoid active region 5325 IAGP ClinVar Annotator: match by term: NARS2-related condition ClinVar PMID:28492532 NCBI chr11:78,465,690...78,465,929 JBrowse link
G NARS2 asparaginyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 94 | ClinVar Annotator: match by term: NARS2-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25807530 PMID:26402642 More... NCBI chr11:78,435,968...78,574,864
Ensembl chr11:78,435,620...78,575,194 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 97 ClinVar
OMIM		 PMID:12920089 PMID:15735036 PMID:16189274 PMID:19318576 PMID:19723643 More... NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377 		JBrowse link
autosomal recessive nonsyndromic deafness 98 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRTAP10-1 keratin associated protein 10-1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 98 ClinVar PMID:25741868 NCBI chr21:44,538,981...44,540,195
Ensembl chr21:44,538,981...44,540,195 		JBrowse link
G KRTAP10-12 keratin associated protein 10-12 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 98 ClinVar PMID:25741868 NCBI chr21:44,697,172...44,698,044
Ensembl chr21:44,697,172...44,698,044 		JBrowse link
G KRTAP10-3 keratin associated protein 10-3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 98 ClinVar PMID:25741868 NCBI chr21:44,557,790...44,558,795
Ensembl chr21:44,557,790...44,558,795 		JBrowse link
G LOC126653398 CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:45928270-45929469 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 98 ClinVar PMID:22678063 PMID:24033266 PMID:25741868 PMID:27736875 PMID:28492532 More... NCBI chr21:44,508,387...44,509,586 JBrowse link
G TSPEAR thrombospondin type laminin G domain and EAR repeats IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 98 OMIM
ClinVar		 PMID:22678063 PMID:24033266 PMID:25741868 PMID:25855803 PMID:26467025 More... NCBI chr21:44,497,893...44,711,572
Ensembl chr21:44,497,893...44,711,572 		JBrowse link
G TSPEAR-AS1 TSPEAR antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 98 ClinVar PMID:22678063 PMID:24033266 PMID:25741868 PMID:27736875 PMID:28492532 More... NCBI chr21:44,506,044...44,516,575
Ensembl chr21:44,506,807...44,525,952 		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 IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 99 | ClinVar Annotator: match by term: Deafness, autosomal recessive 99
ClinVar Annotator: match by term: TMEM132E-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 99 | ClinVar Annotator: match by term: TMEM132E-related condition 		OMIM
ClinVar		 PMID:12673573 PMID:25331638 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr17:34,579,582...34,639,318
Ensembl chr17:34,579,487...34,639,318 		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 IAGP ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome
ClinVar Annotator: match by term: SLC9A1-related condition
ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome | ClinVar Annotator: match by term: SLC9A1-related condition 		ClinVar
OMIM		 PMID:25205112 PMID:25741868 PMID:28492532 PMID:30018422 NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981 		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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP ClinVar Annotator: match by term: Deafness, sensorineural, autosomal-mitochondrial type ClinVar PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-RNR1 mitochondrially encoded 12S rRNA EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, sensorineural, autosomal-mitochondrial type 		CTD
ClinVar		 PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:648...1,601
Ensembl chr MT:648...1,601 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		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 IAGP
EXP 		ClinVar Annotator: match by term: MAF-related condition
ClinVar Annotator: match by term: Ayme-Gripp syndrome | ClinVar Annotator: match by term: MAF-related condition
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:8834052 PMID:8867660 PMID:12072800 PMID:17935251 PMID:25064449 More... NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737 		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 IAGP
EXP 		DNA:mutation:cds:p.N54K(human)
ClinVar Annotator: match by term: Bart-Pumphrey syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... RGD:7364821 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		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 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Bartter disease type 4A
ClinVar Annotator: match by term: BSND-related condition | ClinVar Annotator: match by term: Bartter disease type 4A
OMIM:602522
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS 		OMIM
ClinVar
MouseDO
CTD		 PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... NCBI chr 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172 		JBrowse link
G LOC129930596 ATAC-STARR-seq lymphoblastoid active region 1070 IAGP ClinVar Annotator: match by term: Bartter disease type 4A ClinVar PMID:25741868 NCBI chr 1:54,998,926...54,998,975 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 IAGP
EXP 		ClinVar Annotator: match by term: Bartter disease type 4B
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:16,022,036...16,034,050
Ensembl chr 1:16,018,875...16,034,050 		JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP
EXP 		ClinVar Annotator: match by term: Bartter disease type 4B
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G LOC106501712 CLCNKA recombination region IAGP ClinVar Annotator: match by term: Bartter disease type 4B ClinVar PMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:16,023,929...16,036,205 JBrowse link
G LOC106501713 CLCNKB recombination region IAGP ClinVar Annotator: match by term: Bartter disease type 4B ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:16,044,593...16,059,459 JBrowse link
Behr syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126806913 BRD4-independent group 4 enhancer GRCh37_chr3:193364377-193365576 IAGP ClinVar Annotator: match by term: Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss ClinVar PMID:25146916 PMID:25741868 PMID:28492532 NCBI chr 3:193,646,588...193,647,787 JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP
EXP 		ClinVar Annotator: match by term: Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss
ClinVar Annotator: match by term: OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Optic atrophy, infantile hereditary, Behr complicated form of 		ClinVar
OMIM
CTD		 PMID:9490303 PMID:9536098 PMID:9917792 PMID:11017079 PMID:11440988 More... NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G OPA1-AS1 OPA1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:193,618,599...193,627,332
Ensembl chr 3:193,618,609...193,627,337 		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 IAGP DFNB30, OMIM:607101, DNA:point mutation:exon:Y1043X RGD PMID:12032315 RGD:1600555 NCBI chr10:25,934,229...26,212,532
Ensembl chr10:25,934,229...26,212,532 		JBrowse link
G NEFH neurofilament heavy chain disease_progression ISO RGD PMID:27457532 RGD:27372873 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 IAGP associated with Enlarged Vestibular Aqueduct;DNA:missense mutation:cds:p.V138L (human) RGD PMID:19645628 RGD:7411669 NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809 		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 IAGP
EXP 		ClinVar Annotator: match by term: Bjornstad syndrome with mild mitochondrial complex III deficiency
ClinVar Annotator: match by term: Pili torti-deafness syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443 		JBrowse link
G LOC129935609 ATAC-STARR-seq lymphoblastoid active region 17127 IAGP ClinVar Annotator: match by term: Pili torti-deafness syndrome ClinVar PMID:25741868 NCBI chr 2:218,659,677...218,659,806 JBrowse link
BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KMT2D lysine methyltransferase 2D IAGP ClinVar Annotator: match by term: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
ClinVar Annotator: match by term: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME | ClinVar Annotator: match by term: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 		ClinVar
OMIM		 PMID:9536098 PMID:12002153 PMID:17576681 PMID:18414213 PMID:21658225 More... NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G LOC126861520 CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:49442744-49443943 IAGP ClinVar Annotator: match by term: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME
ClinVar Annotator: match by term: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME | ClinVar Annotator: match by term: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 		ClinVar PMID:25741868 PMID:28492532 NCBI chr12:49,048,961...49,050,160 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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:144,358,552...144,361,272
Ensembl chr 8:144,333,957...144,361,286 		JBrowse link
G SLC52A3 solute carrier family 52 member 3 EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pontobulbar palsy and neurosensory deafness 		CTD
ClinVar		 PMID:22718020 PMID:24033266 PMID:25741868 PMID:26072523 PMID:27702554 More... NCBI chr20:760,080...780,033
Ensembl chr20:760,080...776,015 		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 CSNK2A1 casein kinase 2 alpha 1 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chr20:472,498...543,790
Ensembl chr20:472,498...543,835 		JBrowse link
G RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chr20:408,299...432,139
Ensembl chr20:407,498...432,139 		JBrowse link
G SCRT2 scratch family transcriptional repressor 2 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chr20:661,596...675,802
Ensembl chr20:661,596...675,802 		JBrowse link
G SLC52A2 solute carrier family 52 member 2 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:24253200 PMID:25741868 PMID:27148561 PMID:28492532 NCBI chr 8:144,358,552...144,361,272
Ensembl chr 8:144,333,957...144,361,286 		JBrowse link
G SLC52A3 solute carrier family 52 member 3 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar
OMIM		 PMID:2020633 PMID:9536098 PMID:16122634 PMID:16199547 PMID:17576681 More... NCBI chr20:760,080...780,033
Ensembl chr20:760,080...776,015 		JBrowse link
G SRXN1 sulfiredoxin 1 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chr20:646,615...653,200
Ensembl chr20:646,615...653,200 		JBrowse link
G TBC1D20 TBC1 domain family member 20 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566 		JBrowse link
G TCF15 transcription factor 15 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chr20:604,257...610,309
Ensembl chr20:604,257...610,309 		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 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:144,373,088...144,393,242
Ensembl chr 8:144,373,101...144,393,242 		JBrowse link
G BOP1 BOP1 ribosomal biogenesis factor IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:144,262,045...144,291,438
Ensembl chr 8:144,262,045...144,291,438 		JBrowse link
G CCDC166 coiled-coil domain containing 166 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,706,694...143,708,109
Ensembl chr 8:143,706,694...143,708,109 		JBrowse link
G CPSF1 cleavage and polyadenylation specific factor 1 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:144,393,231...144,409,335
Ensembl chr 8:144,393,229...144,409,335 		JBrowse link
G CYC1 cytochrome c1 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:144,095,076...144,097,525
Ensembl chr 8:144,095,039...144,097,525 		JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:144,314,584...144,326,852
Ensembl chr 8:144,314,584...144,326,910 		JBrowse link
G EEF1D eukaryotic translation elongation factor 1 delta IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,579,728...143,597,415
Ensembl chr 8:143,579,697...143,599,541 		JBrowse link
G EPPK1 epiplakin 1 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,857,324...143,879,194
Ensembl chr 8:143,857,324...143,878,467 		JBrowse link
G EXOSC4 exosome component 4 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:144,064,056...144,080,648
Ensembl chr 8:144,078,648...144,080,648 		JBrowse link
G FAM83H family with sequence similarity 83 member H IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,723,933...143,733,779
Ensembl chr 8:143,723,933...143,738,234 		JBrowse link
G FBXL6 F-box and leucine rich repeat protein 6 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:144,355,431...144,358,472
Ensembl chr 8:144,355,431...144,359,376 		JBrowse link
G FOXH1 forkhead box H1 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849 		JBrowse link
G GFUS GDP-L-fucose synthase IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,612,618...143,618,048
Ensembl chr 8:143,612,618...143,618,048 		JBrowse link
G GLI4 GLI family zinc finger 4 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,267,445...143,276,931
Ensembl chr 8:143,267,433...143,276,931 		JBrowse link
G GPAA1 glycosylphosphatidylinositol anchor attachment 1 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:144,082,634...144,086,216
Ensembl chr 8:144,082,337...144,093,149 		JBrowse link
G GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,213,218...143,217,170
Ensembl chr 8:143,213,218...143,217,170 		JBrowse link
G GRINA glutamate ionotropic receptor NMDA type subunit associated protein 1 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,990,056...143,993,415
Ensembl chr 8:143,990,056...143,993,415 		JBrowse link
G GSDMD gasdermin D IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,553,387...143,563,062
Ensembl chr 8:143,553,207...143,563,062 		JBrowse link
G HGH1 HGH1 homolog IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:144,137,774...144,140,851
Ensembl chr 8:144,137,774...144,140,851 		JBrowse link
G HSF1 heat shock transcription factor 1 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:144,291,604...144,314,720
Ensembl chr 8:144,291,591...144,314,720 		JBrowse link
G KIFC2 kinesin family member C2 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:144,466,049...144,474,202
Ensembl chr 8:144,466,043...144,474,202 		JBrowse link
G MAF1 MAF1 homolog, negative regulator of RNA polymerase III IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:144,104,461...144,107,611
Ensembl chr 8:144,104,420...144,107,611 		JBrowse link
G MAFA MAF bZIP transcription factor A IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,428,064...143,430,732
Ensembl chr 8:143,419,182...143,430,732 		JBrowse link
G MAPK15 mitogen-activated protein kinase 15 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,716,349...143,722,458
Ensembl chr 8:143,716,340...143,722,458 		JBrowse link
G MIR1234 microRNA 1234 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:144,400,086...144,400,165
Ensembl chr 8:144,400,086...144,400,165 		JBrowse link
G MIR661 microRNA 661 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,945,191...143,945,279
Ensembl chr 8:143,945,191...143,945,279 		JBrowse link
G MROH1 maestro heat like repeat family member 1 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:144,148,016...144,261,926
Ensembl chr 8:144,148,016...144,261,927 		JBrowse link
G MROH6 maestro heat like repeat family member 6 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,566,192...143,572,772
Ensembl chr 8:143,566,192...143,572,772 		JBrowse link
G NAPRT nicotinate phosphoribosyltransferase IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,572,874...143,578,330
Ensembl chr 8:143,574,785...143,578,649 		JBrowse link
G NRBP2 nuclear receptor binding protein 2 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,829,776...143,840,973
Ensembl chr 8:143,833,583...143,840,973 		JBrowse link
G OPLAH 5-oxoprolinase, ATP-hydrolysing IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:144,050,322...144,063,961
Ensembl chr 8:144,051,266...144,063,965 		JBrowse link
G PARP10 poly(ADP-ribose) polymerase family member 10 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,977,158...144,012,764
Ensembl chr 8:143,977,153...144,012,772 		JBrowse link
G PLEC plectin IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G PYCR3 pyrroline-5-carboxylate reductase 3 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,603,210...143,609,575
Ensembl chr 8:143,603,210...143,609,773 		JBrowse link
G RHPN1 rhophilin Rho GTPase binding protein 1 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,364,255...143,384,221
Ensembl chr 8:143,368,876...143,384,221 		JBrowse link
G SCRIB scribble planar cell polarity protein IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,790,925...143,815,773
Ensembl chr 8:143,790,920...143,815,773 		JBrowse link
G SCRT1 scratch family transcriptional repressor 1 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:144,330,565...144,336,482
Ensembl chr 8:144,330,565...144,336,482 		JBrowse link
G SCX scleraxis bHLH transcription factor IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:144,266,453...144,268,481
Ensembl chr 8:144,266,453...144,268,481 		JBrowse link
G SHARPIN SHANK associated RH domain interactor IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:144,098,637...144,103,773
Ensembl chr 8:144,098,633...144,108,124 		JBrowse link
G SLC39A4 solute carrier family 39 member 4 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844 		JBrowse link
G SLC52A2 solute carrier family 52 member 2 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2
ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 | ClinVar Annotator: match by term: Riboflavin transporter deficiency type 2 		ClinVar
OMIM		 PMID:9536098 PMID:10797435 PMID:11175288 PMID:16199547 PMID:17576681 More... NCBI chr 8:144,358,552...144,361,272
Ensembl chr 8:144,333,957...144,361,286 		JBrowse link
G SPATC1 spermatogenesis and centriole associated 1 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:144,010,977...144,047,114
Ensembl chr 8:144,012,280...144,047,114 		JBrowse link
G TIGD5 tigger transposable element derived 5 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,597,831...143,603,224
Ensembl chr 8:143,597,831...143,603,224 		JBrowse link
G TMEM249 transmembrane protein 249 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:144,353,228...144,354,931
Ensembl chr 8:144,352,219...144,354,954 		JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440 		JBrowse link
G TOP1MT DNA topoisomerase I mitochondrial IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,309,324...143,359,977
Ensembl chr 8:143,304,384...143,359,979 		JBrowse link
G VPS28 VPS28 subunit of ESCRT-I IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:144,423,617...144,428,548
Ensembl chr 8:144,423,601...144,428,563 		JBrowse link
G ZC3H3 zinc finger CCCH-type containing 3 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,437,659...143,541,447
Ensembl chr 8:143,437,659...143,541,447 		JBrowse link
G ZFP41 ZFP41 zinc finger protein IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,246,939...143,262,705
Ensembl chr 8:143,246,821...143,262,705 		JBrowse link
G ZFTRAF1 zinc finger TRAF-type containing 1 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:144,449,582...144,462,871
Ensembl chr 8:144,449,582...144,462,871 		JBrowse link
G ZNF623 zinc finger protein 623 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,636,019...143,653,730
Ensembl chr 8:143,636,019...143,656,418 		JBrowse link
G ZNF696 zinc finger protein 696 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,291,417...143,299,952
Ensembl chr 8:143,289,676...143,299,952 		JBrowse link
G ZNF707 zinc finger protein 707 IAGP ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr 8:143,684,479...143,695,385
Ensembl chr 8:143,684,452...143,713,898 		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 IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,109,262...80,140,346
Ensembl chr18:80,109,262...80,147,523 		JBrowse link
G ATP9B ATPase phospholipid transporting 9B (putative) IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,069,394...79,378,283
Ensembl chr18:79,069,285...79,378,287 		JBrowse link
G CTDP1 CTD phosphatase subunit 1 IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,676,768...79,756,625
Ensembl chr18:79,679,803...79,754,503 		JBrowse link
G GALR1 galanin receptor 1 IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:77,249,848...77,277,900
Ensembl chr18:77,249,848...77,277,900 		JBrowse link
G HSBP1L1 heat shock factor binding protein 1 like 1 IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,964,643...79,970,822
Ensembl chr18:79,964,582...79,970,822 		JBrowse link
G KCNG2 potassium voltage-gated channel modifier subfamily G member 2 IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,797,938...79,900,100
Ensembl chr18:79,797,938...79,900,184 		JBrowse link
G LINC00683 long intergenic non-protein coding RNA 683 IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,619,777...76,623,559
Ensembl chr18:76,528,580...76,693,637 		JBrowse link
G LINC01879 long intergenic non-protein coding RNA 1879 IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,690,029...76,693,636
Ensembl chr18:76,528,580...76,693,637 		JBrowse link
G LOC130062794 ATAC-STARR-seq lymphoblastoid silent region 9585 IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar Annotator: match by term: TXNL4A-related condition 		ClinVar PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More... NCBI chr18:79,988,376...79,988,615 JBrowse link
G MBP myelin basic protein IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,978,833...77,133,708
Ensembl chr18:76,978,827...77,133,683 		JBrowse link
G NFATC1 nuclear factor of activated T cells 1 IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,395,930...79,529,323
Ensembl chr18:79,395,856...79,529,325 		JBrowse link
G PARD6G par-6 family cell polarity regulator gamma IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,157,232...80,247,514
Ensembl chr18:80,157,232...80,247,514 		JBrowse link
G RBFA ribosome binding factor A IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,034,434...80,050,651
Ensembl chr18:80,034,389...80,050,651 		JBrowse link
G SALL3 spalt like transcription factor 3 IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:78,979,818...78,998,969
Ensembl chr18:78,979,818...79,002,677 		JBrowse link
G SLC66A2 solute carrier family 66 member 2 IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,902,420...79,951,653
Ensembl chr18:79,902,420...79,951,657 		JBrowse link
G TXNL4A thioredoxin like 4A IAGP
EXP 		ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome | ClinVar Annotator: match by term: TXNL4A-related condition
CTD Direct Evidence: marker/mechanism
DNA:missense mutations,deletions:promoter, cds:
DNA:deletions:promoter: 		OMIM
ClinVar
CTD
RGD		 PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More... RGD:11531484, RGD:155882456 NCBI chr18:79,970,813...80,033,936
Ensembl chr18:79,970,813...80,033,949 		JBrowse link
G ZNF236 zinc finger protein 236 IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,822,557...76,972,901
Ensembl chr18:76,822,557...76,972,901 		JBrowse link
G ZNF516 zinc finger protein 516 IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,357,682...76,496,419
Ensembl chr18:76,357,682...76,495,242 		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 IAGP
EXP 		ClinVar Annotator: match by term: Camptodactyly-tall stature-scoliosis-hearing loss syndrome
ClinVar Annotator: match by term: CATSHL SYNDROME | ClinVar Annotator: match by term: Camptodactyly-tall stature-scoliosis-hearing loss syndrome | ClinVar Annotator: match by term: FGFR3-related CATSHL syndrome
ClinVar Annotator: match by term: Camptodactyly, tall stature, and hearing loss syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		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 IAGP
EXP 		DNA:missense mutation:exon:p.E818K (c.2452G>A) (human)
ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS
ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:8733056 PMID:15260953 PMID:18414213 PMID:18675996 PMID:19652145 More... RGD:11576280 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G LOC130064543 ATAC-STARR-seq lymphoblastoid silent region 10681 IAGP ClinVar Annotator: match by term: CAPOS syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:41,993,964...41,994,403 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 IAGP ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
ClinVar Annotator: match by term: IARS2-related condition
ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | ClinVar Annotator: match by term: IARS2-related condition 		OMIM
ClinVar		 PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 More... NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041 		JBrowse link
G LOC129932529 ATAC-STARR-seq lymphoblastoid silent region 1823 IAGP ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | ClinVar Annotator: match by term: IARS2-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:220,094,022...220,094,351 JBrowse link
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DKC1 dyskerin pseudouridine synthase 1 IAGP ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 ClinVar
OMIM		 PMID:32554502 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOP10 NOP10 ribonucleoprotein IAGP ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 ClinVar
OMIM		 PMID:32554502 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180 		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 IAGP ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, MENTAL RETARDATION, AND ABSENT SENSORY LARGE MYELINATED FIBERS ClinVar PMID:12402337 PMID:15241803 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1E
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease and deafness
OMIM:118300
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:7139106 PMID:7829101 PMID:8995589 PMID:9324088 PMID:9544841 More... NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		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 IAGP
EXP 		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2J
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8816708 PMID:9452091 PMID:10071056 PMID:10329755 PMID:10764043 More... NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968 		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 IAGP
EXP 		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 More... NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G LOC130068679 ATAC-STARR-seq lymphoblastoid active region 29939 IAGP ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:130,165,490...130,165,829 JBrowse link
G RAB33A RAB33A, member RAS oncogene family IAGP ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation 		ClinVar PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 More... NCBI chr  X:130,110,623...130,184,870
Ensembl chr  X:130,171,962...130,184,870 		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 IAGP
EXP 		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: ROSENBERG-CHUTORIAN SYNDROME
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:3278127 PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 More... NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993 		JBrowse link
CHIME syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130060313 ATAC-STARR-seq lymphoblastoid active region 11748 IAGP ClinVar Annotator: match by term: CHIME syndrome ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr17:16,216,986...16,217,235 JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP
EXP 		ClinVar Annotator: match by term: CHIME syndrome
ClinVar Annotator: match by term: CHIME syndrome | ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome
ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome | ClinVar Annotator: match by term: PIGL-related condition
ClinVar Annotator: match by term: CHIME syndrome | ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome | ClinVar Annotator: match by term: PIGL-related condition
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:CDS:c.500T>C (p.L167P) (human) 		OMIM
ClinVar
CTD
RGD		 PMID:3041916 PMID:7666399 PMID:8893234 PMID:11438011 PMID:16199547 More... RGD:243048422 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		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 IAGP ClinVar Annotator: match by term: GPSM2-Related Disorders
ClinVar Annotator: match by term: Chudley-McCullough syndrome
ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: GPSM2-Related Disorders 		ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:108,929,505...108,963,484
Ensembl chr 1:108,881,885...108,963,527 		JBrowse link
G GPSM2 G protein signaling modulator 2 IAGP
EXP 		DNA:deletion, transversion mutations:cds,splice junction:c.1471delG,c.741delC,c.1661C>A,c.1062+1G>T (human);
ClinVar Annotator: match by term: Chudley-McCullough syndrome
ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: GPSM2-Related Disorders
ClinVar Annotator: match by term: Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction
ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: Deafness, autosomal recessive 82
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:10449658 PMID:17576681 PMID:20602914 PMID:21348867 More... RGD:11062393 NCBI chr 1:108,876,985...108,934,545
Ensembl chr 1:108,875,350...108,934,545 		JBrowse link
G LOC129931083 ATAC-STARR-seq lymphoblastoid silent region 1138 IAGP ClinVar Annotator: match by term: Chudley-McCullough syndrome ClinVar PMID:25741868 NCBI chr 1:108,876,821...108,877,220 JBrowse link
G SPTB spectrin beta, erythrocytic IAGP ClinVar Annotator: match by term: Chudley-McCullough syndrome ClinVar PMID:1391962 PMID:1498324 PMID:8844207 PMID:25741868 PMID:26830532 More... NCBI chr14:64,746,283...64,879,907
Ensembl chr14:64,746,283...64,879,907 		JBrowse link
CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HYAL2 hyaluronidase 2 IAGP ClinVar Annotator: match by term: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome ClinVar PMID:25741868 NCBI chr 3:50,317,808...50,322,745
Ensembl chr 3:50,317,790...50,322,782 		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 IAGP ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ClinVar
OMIM		 PMID:2440678 PMID:8659547 PMID:16199547 PMID:20127975 PMID:22012259 More... NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336 		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 IAGP ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
ClinVar Annotator: match by term: DNAJC3-related condition 		OMIM
ClinVar		 PMID:25466870 PMID:25741868 PMID:28492532 PMID:28940199 PMID:32738013 More... NCBI chr13:95,677,139...95,794,988
Ensembl chr13:95,677,139...95,794,988 		JBrowse link
G DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 IAGP ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ClinVar PMID:2256350 PMID:22563501 PMID:24220513 PMID:32214227 PMID:33983693 NCBI chr 1:65,264,749...65,415,871
Ensembl chr 1:65,248,219...65,415,871 		JBrowse link
G MAFA MAF bZIP transcription factor A IAGP ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ClinVar PMID:25741868 NCBI chr 8:143,428,064...143,430,732
Ensembl chr 8:143,419,182...143,430,732 		JBrowse link
combined pituitary hormone deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXA2 forkhead box A2 IAGP ClinVar Annotator: match by term: Non-acquired combined pituitary hormone deficiency ClinVar PMID:25741868 PMID:29329447 PMID:30414530 PMID:33729509 PMID:33999151 NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455 		JBrowse link
G LHX3 LIM homeobox 3 IAGP
EXP 		ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome
ClinVar Annotator: match by term: LHX3-related condition | ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10835633 PMID:12780757 PMID:16199547 PMID:16394081 PMID:16940453 More... NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
Conductive Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EYA1 EYA transcriptional coactivator and phosphatase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10471511 NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025 		JBrowse link
G NOG noggin ISO RGD PMID:18096605 RGD:12801451 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G TBX1 T-box transcription factor 1 ISO DNA:missense mutation:CDS:p.W118R (mouse) RGD PMID:28105375 RGD:155663349 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		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 IAGP ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss ClinVar PMID:25741868 PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 More... NCBI chr 9:78,236,075...78,279,690
Ensembl chr 9:78,236,062...78,279,690 		JBrowse link
Cone-Rod Dystrophy and Hearing Loss 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP78 centrosomal protein 78 IAGP ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 1
ClinVar Annotator: match by term: CEP78-related condition
ClinVar Annotator: match by term: CEP78-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 1 		ClinVar
OMIM		 PMID:3196484 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 9:78,236,075...78,279,690
Ensembl chr 9:78,236,062...78,279,690 		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 IAGP ClinVar Annotator: match by term: CEP250-related condition
ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 2
ClinVar Annotator: match by term: CEP250-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 2 		OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24780881 PMID:25741868 PMID:28005958 More... NCBI chr20:35,455,165...35,519,280
Ensembl chr20:35,455,164...35,519,280 		JBrowse link
G CEP250-AS1 CEP250 antisense RNA 1 IAGP ClinVar Annotator: match by term: CEP250-related condition
ClinVar Annotator: match by term: CEP250-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 2 		ClinVar PMID:9536098 PMID:17576681 PMID:24780881 PMID:25741868 PMID:28005958 More... NCBI chr20:35,471,655...35,490,982
Ensembl chr20:35,476,203...35,491,017 		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 IAGP ClinVar Annotator: match by term: SLC33A1-related condition
ClinVar Annotator: match by term: Huppke-Brendel syndrome | ClinVar Annotator: match by term: SLC33A1-related condition 		OMIM
ClinVar		 PMID:15902551 PMID:22243965 PMID:22508683 PMID:24215330 PMID:25741868 More... NCBI chr 3:155,821,024...155,854,427
Ensembl chr 3:155,821,024...155,854,456 		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 IAGP
EXP 		ClinVar Annotator: match by term: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia
ClinVar Annotator: match by term: DEAFNESS WITH LAMM
ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
ClinVar Annotator: match by term: DEAFNESS WITH LAMM | ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:17236138 PMID:18435799 PMID:18701883 PMID:19950373 PMID:21306635 More... NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416 		JBrowse link
G LOC109115964 FGF3 5' regulatory region IAGP ClinVar Annotator: match by term: DEAFNESS WITH LAMM
ClinVar Annotator: match by term: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia
ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM) 		ClinVar PMID:18435799 PMID:18701883 PMID:21480479 PMID:22993869 PMID:25741868 More... NCBI chr11:69,817,540...69,825,634 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 ITGB4 integrin subunit beta 4 IAGP ClinVar Annotator: match by term: Myopathy, congenital, with neuropathy and deafness ClinVar PMID:25741868 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818 		JBrowse link
G LOC130064467 ATAC-STARR-seq lymphoblastoid silent region 10632 IAGP ClinVar Annotator: match by term: Myopathy, congenital, with neuropathy and deafness ClinVar PMID:25741868 PMID:29861105 NCBI chr19:40,570,496...40,571,065 JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 IAGP ClinVar Annotator: match by term: Myopathy, congenital, with neuropathy and deafness
ClinVar Annotator: match by term: Myopathy, congenital, with neuropathy and deafness | ClinVar Annotator: match by term: SPTBN4-related condition 		ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:28540413 PMID:29861105 PMID:34440880 NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464 		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 IAGP
EXP 		ClinVar Annotator: match by term: Corneal dystrophy-perceptive deafness syndrome
ClinVar Annotator: match by term: Corneal dystrophy and sensorineural deafness | ClinVar Annotator: match by term: Corneal dystrophy-perceptive deafness syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16767101 PMID:16825429 PMID:17220209 More... NCBI chr20:3,227,417...3,239,559
Ensembl chr20:3,227,417...3,239,559 		JBrowse link
craniofacial-deafness-hand syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC140 CCDC140 long non-coding RNA IAGP ClinVar Annotator: match by term: Craniofacial-deafness-hand syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:222,298,147...222,305,217
Ensembl chr 2:222,298,147...222,305,217 		JBrowse link
G LOC107980445 PAX3 promoter region IAGP ClinVar Annotator: match by term: Craniofacial-deafness-hand syndrome ClinVar NCBI chr 2:222,298,598...222,300,448 JBrowse link
G LOC126806529 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:223084735-223085934 IAGP ClinVar Annotator: match by term: Craniofacial-deafness-hand syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 2:222,220,016...222,221,215 JBrowse link
G PAX3 paired box 3 IAGP
EXP 		ClinVar Annotator: match by term: Craniofacial-deafness-hand syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:6859126 PMID:8589691 PMID:8664898 PMID:8863157 PMID:9584079 More... NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		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 MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness ClinVar PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness ClinVar PMID:9536098 PMID:12730828 PMID:15141358 PMID:15154116 PMID:15211651 More... NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580 		JBrowse link
De Hauwere syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXC1 forkhead box C1 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897 		JBrowse link
G PITX2 paired like homeodomain 2 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123 		JBrowse link
Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AK2 adenylate kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19043416 NCBI chr 1:33,007,940...33,036,883
Ensembl chr 1:33,007,986...33,080,996 		JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:11406631 RGD:734598 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771 		JBrowse link
G BDNF brain derived neurotrophic factor treatment IDA
EXP
ISO 		CTD Direct Evidence: therapeutic CTD
RGD		 PMID:18607918 PMID:19365690 PMID:21452221 PMID:23150788 RGD:8639313, RGD:8655576 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058 		JBrowse link
G BDP1 BDP1 general transcription factor IIIB subunit IAGP ClinVar Annotator: match by term: Deafness ClinVar NCBI chr 5:71,455,651...71,578,288
Ensembl chr 5:71,455,651...71,567,820 		JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D ISO
EXP 		CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15357422 PMID:10929716 RGD:1300292 NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733 		JBrowse link
G CDC14A cell division cycle 14A EXP CTD Direct Evidence: marker/mechanism CTD PMID:29293958 NCBI chr 1:100,345,001...100,520,277
Ensembl chr 1:100,325,629...100,520,277 		JBrowse link
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CLCNKA chloride voltage-gated channel Ka IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 1:16,022,036...16,034,050
Ensembl chr 1:16,018,875...16,034,050 		JBrowse link
G CLDN14 claudin 14 susceptibility IAGP
EXP 		DNA:deletion, missense mutation: :398delT, p.V85D
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:11163249 PMID:11163249 RGD:1600866 NCBI chr21:36,460,621...36,576,569
Ensembl chr21:36,460,621...36,576,569 		JBrowse link
G COCH cochlin susceptibility IAGP deafness, autosomal dominant nonsyndromic sensorineural 9, OMIM:9601369;DNA:missense mutations RGD PMID:9806553 RGD:1600878 NCBI chr14:30,874,559...30,895,615
Ensembl chr14:30,874,514...30,895,065 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:10677296 PMID:21204229 PMID:22246659 PMID:24033266 PMID:25741868 More... NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		JBrowse link
G CRYM crystallin mu IAGP DNA:missense mutation:cds:p.K314T (human) RGD PMID:12471561 RGD:734836 NCBI chr16:21,258,521...21,303,062
Ensembl chr16:21,238,874...21,303,083 		JBrowse link
G DIAPH1 diaphanous related formin 1 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:25741868 PMID:26463574 NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		JBrowse link
G EPS8 EGFR pathway substrate 8, signaling adaptor IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr12:15,620,134...15,789,388
Ensembl chr12:15,620,134...15,882,329 		JBrowse link
G ESPN espin ISO
EXP 		CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15286153 PMID:15930085 PMID:10975527 RGD:734943 NCBI chr 1:6,424,776...6,461,370
Ensembl chr 1:6,424,776...6,461,367 		JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:19293293 RGD:8553051 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		JBrowse link
G GJB1 gap junction protein beta 1 treatment ISO RGD PMID:21813206 RGD:7364894 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516 		JBrowse link
G GJB2 gap junction protein beta 2 ISO
IAGP
EXP 		ClinVar Annotator: match by term: Deafness
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More... RGD:7364799 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB3 gap junction protein beta 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9843210 NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369 		JBrowse link
G GPSM2 G protein signaling modulator 2 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 1:108,876,985...108,934,545
Ensembl chr 1:108,875,350...108,934,545 		JBrowse link
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 4:42,892,713...43,030,658
Ensembl chr 4:42,892,713...43,030,658 		JBrowse link
G IGF1 insulin like growth factor 1 ISO RGD PMID:20661454 RGD:8549497 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 3:121,987,323...122,061,655
Ensembl chr 3:121,987,323...122,022,247 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness 		CTD
ClinVar		 PMID:12022040 PMID:25741868 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO RGD PMID:12618319 RGD:8662867 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483 		JBrowse link
G KCNK1 potassium two pore domain channel subfamily K member 1 ISO mRNA:decreased expression:brain, neuron RGD PMID:17884299 RGD:2316516 NCBI chr 1:233,614,106...233,672,514
Ensembl chr 1:233,614,106...233,672,514 		JBrowse link
G KCNK10 potassium two pore domain channel subfamily K member 10 ISO mRNA:decreased expression:inferior colliculus (rat) RGD PMID:17884299 RGD:2316516 NCBI chr14:88,180,108...88,326,912
Ensembl chr14:88,180,103...88,326,907 		JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 ISO mRNA:decreased expression:brain, neuron RGD PMID:17884299 RGD:2316516 NCBI chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO DNA:deletion:exon (rat) RGD PMID:16368876 RGD:1581602 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G LHFPL5 LHFPL tetraspan subfamily member 5 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:24033266 PMID:25741868 PMID:26437881 PMID:28492532 PMID:30298622 NCBI chr 6:35,805,352...35,824,070
Ensembl chr 6:35,797,206...35,845,397 		JBrowse link
G LOC106501712 CLCNKA recombination region IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 1:16,023,929...16,036,205 JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:19732867 PMID:21465660 PMID:23897863 PMID:24033266 PMID:25333069 More... NCBI chr18:46,476,961...46,657,220
Ensembl chr18:46,476,972...46,657,220 		JBrowse link
G LRRC51 leucine rich repeat containing 51 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18953341 NCBI chr11:72,080,850...72,096,895
Ensembl chr11:72,080,337...72,096,895 		JBrowse link
G MARVELD2 MARVEL domain containing 2 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 5:69,415,116...69,444,330
Ensembl chr 5:69,415,065...69,444,330 		JBrowse link
G MITF melanocyte inducing transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:9158138 NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336 		JBrowse link
G MT-RNR1 mitochondrially encoded 12S rRNA EXP CTD Direct Evidence: marker/mechanism CTD PMID:9391883 PMID:12031626 PMID:12037390 PMID:15722487 NCBI chr MT:648...1,601
Ensembl chr MT:648...1,601 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:8280620 PMID:10973259 PMID:10973260 PMID:11159552 PMID:11590545 More... NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G MYO7A myosin VIIA ISO
IAGP 		DNA:mutations:cds:multiple (mouse)
ClinVar Annotator: match by term: Deafness
DNA:nonsense mutation:cds
DNA:deletions:exons 		ClinVar
RGD		 PMID:22135276 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 More... RGD:4892285, RGD:1581470, RGD:8694136 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G OTOF otoferlin ISO
IAGP
EXP 		ClinVar Annotator: match by term: Deafness
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:17967520 PMID:30303587 PMID:17055430 RGD:9491387 NCBI chr 2:26,457,203...26,558,756
Ensembl chr 2:26,457,203...26,558,756 		JBrowse link
G OTOG otogelin IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr11:17,547,259...17,646,044
Ensembl chr11:17,547,259...17,647,150 		JBrowse link
G PAX3 paired box 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14556253 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G PCDH15 protocadherin related 15 EXP
ISO 		CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation:cds:c.2911C>T|p.Arg971X (rat) 		CTD
RGD		 PMID:10978835 PMID:19151506 RGD:2306012 NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942 		JBrowse link
G PJVK pejvakin EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness 		CTD
ClinVar		 PMID:17301963 PMID:17329413 PMID:17718875 PMID:19888295 PMID:21696384 More... NCBI chr 2:178,451,378...178,462,102
Ensembl chr 2:178,451,346...178,462,102 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:23770608 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G POLR2C RNA polymerase II subunit C IAGP ClinVar Annotator: match by term: Deafness ClinVar NCBI chr16:57,462,679...57,472,009
Ensembl chr16:57,462,660...57,472,009 		JBrowse link
G POLR2F RNA polymerase II, I and III subunit F IAGP ClinVar Annotator: match by term: Deafness with anatomical inner ear anomalies ClinVar PMID:25077900 PMID:25741868 PMID:27562378 PMID:28492532 PMID:29419413 More... NCBI chr22:37,953,663...38,041,915
Ensembl chr22:37,952,607...38,041,915 		JBrowse link
G POU3F4 POU class 3 homeobox 4 IAGP RGD PMID:9298820 PMID:7839145 RGD:1599156, RGD:1599155 NCBI chr  X:83,508,290...83,512,127
Ensembl chr  X:83,508,290...83,512,127 		JBrowse link
G POU4F3 POU class 4 homeobox 3 IAGP RGD PMID:9506947 RGD:1599168 NCBI chr 5:146,338,839...146,341,728
Ensembl chr 5:146,338,839...146,341,728 		JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr12:80,444,235...80,680,273
Ensembl chr12:80,402,178...80,680,273 		JBrowse link
G RAI1 retinoic acid induced 1 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:28492532 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G RET ret proto-oncogene ISO mRNA:increased expression:vestibulocochlear VIII nerve cochlear component RGD PMID:16738479 RGD:2324943 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G SERAC1 serine active site containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22683713 NCBI chr 6:158,109,519...158,168,262
Ensembl chr 6:158,109,519...158,168,280 		JBrowse link
G SLC19A2 solute carrier family 19 member 2 IAGP RGD PMID:10391221 RGD:1599325 NCBI chr 1:169,463,909...169,485,970
Ensembl chr 1:169,463,909...169,485,944 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 IAGP
ISO
IMP 		DNA:deletion, missense mutation:cds:c.1341delG, p.H723R (human)
ClinVar Annotator: match by term: Deafness
human gene in mouse model
DNA:missense mutation:cds:p.L445W (human)
DNA:mutations:multiple (human) 		ClinVar
RGD		 PMID:9500541 PMID:9618166 PMID:10861298 PMID:11317356 PMID:12354788 More... RGD:1599217, RGD:7411670, RGD:7411562, RGD:7411559, RGD:11062194, RGD:1599215 NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809 		JBrowse link
G SLC26A4-AS1 SLC26A4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 7:107,656,516...107,661,798
Ensembl chr 7:107,650,260...107,662,204 		JBrowse link
G SLC26A5 solute carrier family 26 member 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12719379 NCBI chr 7:103,352,730...103,446,207
Ensembl chr 7:103,352,730...103,446,207 		JBrowse link
G SMAD4 SMAD family member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22158539 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP ClinVar Annotator: match by term: Deafness with anatomical inner ear anomalies ClinVar PMID:25077900 PMID:25741868 PMID:27562378 PMID:28492532 PMID:29419413 More... NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G TBCEL-TECTA TBCEL-TECTA readthrough IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr11:121,024,102...121,191,490
Ensembl chr11:121,024,125...121,113,108 		JBrowse link
G TECTA tectorin alpha IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490 		JBrowse link
G TMC1 transmembrane channel like 1 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:11850618 PMID:16199547 PMID:22105175 PMID:25741868 PMID:28492532 More... NCBI chr 9:72,521,608...72,838,297
Ensembl chr 9:72,521,608...72,838,297 		JBrowse link
G TMTC2 transmembrane O-mannosyltransferase targeting cadherins 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27311106 NCBI chr12:82,686,906...83,134,866
Ensembl chr12:82,686,880...83,134,870 		JBrowse link
G TRIO trio Rho guanine nucleotide exchange factor IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:25741868 NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128 		JBrowse link
G TRIOBP TRIO and F-actin binding protein IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr22:37,697,048...37,776,556
Ensembl chr22:37,697,048...37,776,556 		JBrowse link
G USH1G USH1 protein network component sans IAGP Usher syndrome, type IG, OMIM:607696
ClinVar Annotator: match by term: Deafness 		ClinVar
RGD		 PMID:25741868 PMID:30303587 PMID:12588794 RGD:1599547 NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256 		JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 More... NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
G USH2A-AS1 USH2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 More... NCBI chr 1:216,193,722...216,238,035
Ensembl chr 1:216,194,051...216,238,122 		JBrowse link
G WHRN whirlin IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,078...114,505,473 		JBrowse link
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSMC3 proteasome 26S subunit, ATPase 3 IAGP ClinVar Annotator: match by term: Deafness, cataract, impaired intellectual development, and polyneuropathy ClinVar
OMIM		 PMID:32500975 NCBI chr11:47,418,775...47,426,439
Ensembl chr11:47,418,769...47,426,473 		JBrowse link
Deafness, Congenital Heart Defects, and Posterior Embryotoxon term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JAG1 jagged canonical Notch ligand 1 IAGP ClinVar Annotator: match by term: Deafness, congenital heart defects, and posterior embryotoxon OMIM
ClinVar		 PMID:9585603 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 More... NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KARS1 lysyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Deafness, congenital, and adult-onset progressive leukoencephalopathy OMIM
ClinVar		 PMID:21427441 PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 More... NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		JBrowse link
G LOC126862402 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:75663368-75664567 IAGP ClinVar Annotator: match by term: Deafness, congenital, and adult-onset progressive leukoencephalopathy ClinVar PMID:21427441 PMID:28887846 PMID:29615062 PMID:31116475 PMID:33260297 NCBI chr16:75,629,470...75,630,669 JBrowse link
Deafness, with Smith-Magenis Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO15A myosin XVA IAGP ClinVar Annotator: match by term: Deafness, with smith-magenis syndrome ClinVar PMID:11735029 PMID:17546645 PMID:19274735 PMID:24033266 PMID:25741868 More... NCBI chr17:18,108,756...18,179,800
Ensembl chr17:18,108,756...18,179,802 		JBrowse link
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTK Bruton tyrosine kinase IAGP ClinVar Annotator: match by term: Deafness dystonia syndrome ClinVar NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796 		JBrowse link
G LOC130068494 ATAC-STARR-seq lymphoblastoid active region 29808 IAGP ClinVar Annotator: match by term: Deafness dystonia syndrome ClinVar PMID:8841189 PMID:15037720 NCBI chr  X:101,348,664...101,348,713 JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A IAGP
EXP 		DNA:mutation:intron:IVS1-23A>C(human)
ClinVar Annotator: match by term: Deafness dystonia syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:116delT(Q38fsX64)(human)
DNA:deletion:cds:108delG(human) 		ClinVar
CTD
OMIM
RGD		 PMID:8841189 PMID:9536098 PMID:10878669 PMID:11405816 PMID:11601506 More... RGD:13209130, RGD:13209136, RGD:13209134 NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742 		JBrowse link
Deafness-Infertility Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CATSPER2 cation channel sperm associated 2 EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness-infertility syndrome 		CTD
ClinVar		 PMID:19344877 PMID:24033266 PMID:25741868 NCBI chr15:43,628,503...43,648,884
Ensembl chr15:43,628,503...43,668,118 		JBrowse link
G CKMT1A creatine kinase, mitochondrial 1A IAGP ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr15:43,692,786...43,699,222
Ensembl chr15:43,692,886...43,699,222
Ensembl chr15:43,692,886...43,699,222 		JBrowse link
G CKMT1B creatine kinase, mitochondrial 1B IAGP ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr15:43,592,857...43,599,406
Ensembl chr15:43,593,054...43,604,901
Ensembl chr15:43,593,054...43,604,901 		JBrowse link
G LOC130056949 ATAC-STARR-seq lymphoblastoid active region 9317 IAGP ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:19344877 PMID:24033266 NCBI chr15:43,638,676...43,639,205 JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 IAGP ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr15:43,746,438...43,773,278
Ensembl chr15:43,746,394...43,773,279 		JBrowse link
G PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 IAGP ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr15:43,533,475...43,590,253
Ensembl chr15:43,533,462...43,590,208 		JBrowse link
G STRC stereocilin EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness-infertility syndrome 		CTD
ClinVar		 PMID:18414213 PMID:21078986 PMID:22147502 PMID:24033266 PMID:25157971 More... NCBI chr15:43,599,563...43,618,800
Ensembl chr15:43,599,563...43,618,800 		JBrowse link
deafness-intellectual disability, Martin-Probst type syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LINC00630 long intergenic non-protein coding RNA 630 IAGP ClinVar Annotator: match by term: Deafness-intellectual disability, Martin-Probst type syndrome ClinVar PMID:22581972 PMID:24863632 PMID:25044830 PMID:25741868 NCBI chr  X:102,769,153...102,964,523
Ensembl chr  X:102,720,701...102,997,186 		JBrowse link
G RAB40AL RAB40A like EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness-intellectual disability, Martin-Probst type syndrome 		CTD
ClinVar		 PMID:22581972 PMID:24863632 PMID:25044830 PMID:25741868 NCBI chr  X:102,937,272...102,938,300
Ensembl chr  X:102,937,272...102,938,300 		JBrowse link
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129936816 ATAC-STARR-seq lymphoblastoid silent region 14408 IAGP ClinVar Annotator: match by term: Diabetes, deafness, developmental delay, and short stature syndrome ClinVar PMID:25741868 PMID:26077850 PMID:33500254 NCBI chr 3:51,385,117...51,385,486 JBrowse link
G MANF mesencephalic astrocyte derived neurotrophic factor IAGP ClinVar Annotator: match by term: Diabetes, deafness, developmental delay, and short stature syndrome OMIM
ClinVar		 PMID:25741868 PMID:26077850 PMID:33500254 NCBI chr 3:51,385,291...51,389,397
Ensembl chr 3:51,385,291...51,389,397 		JBrowse link
dilated cardiomyopathy 1J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EYA4 EYA transcriptional coactivator and phosphatase 4 IAGP
EXP 		ClinVar Annotator: match by term: Dilated cardiomyopathy 1J
ClinVar Annotator: match by term: Dilated cardiomyopathy 1J | ClinVar Annotator: match by term: EYA4-related disorder
ClinVar Annotator: match by term: EYA4-related condition
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:9536098 PMID:10769282 PMID:11159937 PMID:15735644 PMID:16199547 More... NCBI chr 6:133,240,593...133,532,128
Ensembl chr 6:133,240,514...133,532,128 		JBrowse link
G LOC126859796 MED14-independent group 3 enhancer GRCh37_chr6:133826289-133827488 IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1J
ClinVar Annotator: match by term: EYA4-related disorder
ClinVar Annotator: match by term: Dilated cardiomyopathy 1J | ClinVar Annotator: match by term: EYA4-related disorder 		ClinVar PMID:9536098 PMID:11159937 PMID:17576681 PMID:24033266 PMID:25741868 More... NCBI chr 6:133,505,151...133,506,350 JBrowse link
G TARID TCF21 antisense RNA inducing promoter demethylation IAGP ClinVar Annotator: match by term: Dilated cardiomyopathy 1J
ClinVar Annotator: match by term: Dilated cardiomyopathy 1J | ClinVar Annotator: match by term: EYA4-related disorder
ClinVar Annotator: match by term: EYA4-related condition 		ClinVar PMID:9536098 PMID:11159937 PMID:16199547 PMID:17576681 PMID:23861362 More... NCBI chr 6:133,502,252...133,889,006
Ensembl chr 6:133,485,013...133,953,083 		JBrowse link
Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 IAGP
EXP 		ClinVar Annotator: match by term: Renal tubular acidosis with progressive nerve deafness
ClinVar Annotator: match by term: ATP6V1B1-related condition | ClinVar Annotator: match by term: Renal tubular acidosis with progressive nerve deafness
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8651253 PMID:9536098 PMID:9916796 PMID:12414817 PMID:12566520 More... NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431 		JBrowse link
G ATP6V1B1-AS1 ATP6V1B1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Renal tubular acidosis with progressive nerve deafness
ClinVar Annotator: match by term: ATP6V1B1-related condition | ClinVar Annotator: match by term: Renal tubular acidosis with progressive nerve deafness 		ClinVar PMID:9536098 PMID:9916796 PMID:17576681 PMID:18368028 PMID:24033266 More... NCBI chr 2:70,942,013...70,948,611
Ensembl chr 2:70,941,817...70,948,610 		JBrowse link
G LOC129934049 ATAC-STARR-seq lymphoblastoid silent region 11614 IAGP ClinVar Annotator: match by term: Renal tubular acidosis with progressive nerve deafness ClinVar PMID:25741868 NCBI chr 2:70,965,166...70,965,275 JBrowse link
Distal Renal Tubular Acidosis 3, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V0A4 ATPase H+ transporting V0 subunit a4 IAGP
EXP 		ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing | ClinVar Annotator: match by term: Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
ClinVar Annotator: match by term: RTA, distal, autosomal recessive | ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing | ClinVar Annotator: match by term: Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Recessive 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:10973252 PMID:12414817 PMID:16199547 PMID:16611712 More... NCBI chr 7:138,706,294...138,798,196
Ensembl chr 7:138,706,294...138,799,560 		JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 IAGP ClinVar Annotator: match by term: Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431 		JBrowse link
G LOC123956241 Sharpr-MPRA regulatory region 1249 IAGP ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing ClinVar PMID:25741868 NCBI chr 7:138,797,964...138,798,258 JBrowse link
G LOC129389889 MPRA-validated peak6777 silencer IAGP ClinVar Annotator: match by term: Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss ClinVar PMID:10973252 PMID:25741868 PMID:28492532 NCBI chr 7:138,771,030...138,771,230 JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) ISO
IAGP 		ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:35738466 PMID:17409310 RGD:13208934 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
G TMEM213 transmembrane protein 213 IAGP ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing ClinVar PMID:25741868 NCBI chr 7:138,797,994...138,806,759
Ensembl chr 7:138,797,952...138,838,101 		JBrowse link
dominant optic atrophy plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126806913 BRD4-independent group 4 enhancer GRCh37_chr3:193364377-193365576 IAGP ClinVar Annotator: match by term: Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy ClinVar PMID:18065439 PMID:18158317 PMID:19319978 PMID:20157015 PMID:20185555 More... NCBI chr 3:193,646,588...193,647,787 JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP
EXP 		ClinVar Annotator: match by term: Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
ClinVar Annotator: match by term: OPA1-related optic atrophy with or without extraocular features
ClinVar Annotator: match by term: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
ClinVar Annotator: match by term: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
CTD Direct Evidence: marker/mechanism 		ClinVar
OMIM
CTD		 PMID:4058877 PMID:6493699 PMID:9490303 PMID:9917792 PMID:11017079 More... NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G OPA1-AS1 OPA1 antisense RNA 1 IAGP ClinVar Annotator: match by term: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
ClinVar Annotator: match by term: Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 		ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:193,618,599...193,627,332
Ensembl chr 3:193,618,609...193,627,337 		JBrowse link
Donnai-Barrow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBRD1 LMBR1 domain containing 1 IAGP ClinVar Annotator: match by term: Donnai-Barrow syndrome ClinVar PMID:19136951 PMID:25741868 PMID:28492532 NCBI chr 6:69,674,010...69,797,010
Ensembl chr 6:69,672,757...69,867,236 		JBrowse link
G LRP2 LDL receptor related protein 2 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Donnai-Barrow syndrome
ClinVar Annotator: match by term: DBS/FOAR SYNDROME | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: LRP2-related condition
ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: Donnai-Barrow syndrome
ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: LRP2-related condition
ClinVar Annotator: match by term: DBS/FOAR SYNDROME | ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: LRP2-related condition
OMIM:222448
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 More... NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534 		JBrowse link
DOORS syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1C1 ATPase H+ transporting V1 subunit C1 IAGP ClinVar Annotator: match by term: DOORS syndrome ClinVar PMID:25741868 NCBI chr 8:103,021,083...103,073,051
Ensembl chr 8:103,021,063...103,073,051 		JBrowse link
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 IAGP ClinVar Annotator: match by term: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 2:239,892,442...240,025,342
Ensembl chr 2:239,892,450...240,025,743 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP ClinVar Annotator: match by term: DOORS syndrome ClinVar PMID:25326637 PMID:28492532 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP ClinVar Annotator: match by term: DOORS syndrome
ClinVar Annotator: match by term: DOOR SYNDROME
ClinVar Annotator: match by term: DOOR SYNDROME | ClinVar Annotator: match by term: DOORS syndrome 		ClinVar
OMIM		 PMID:1029242 PMID:3402014 PMID:16199547 PMID:20727515 PMID:22211675 More... NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671 		JBrowse link
drug-induced hearing loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SIRT3 sirtuin 3 EXP CTD Direct Evidence: therapeutic CTD PMID:36800006 NCBI chr11:215,030...236,931
Ensembl chr11:215,030...236,931 		JBrowse link
EAST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		JBrowse link
G IGSF8 immunoglobulin superfamily member 8 IAGP ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr 1:160,091,339...160,099,468
Ensembl chr 1:160,091,340...160,098,943 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP
ISS
EXP 		DNA:missense mutations:cds:c.194G>C (p.R65P), c.229G>C (p.G77R) (human)
ClinVar Annotator: match by term: EAST syndrome
ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy | ClinVar Annotator: match by term: SeSAME-like syndrome
ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome
OMIM:612780
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:19289823 PMID:19420365 PMID:19426954 PMID:20651251 PMID:20678478 More... RGD:8662866 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483 		JBrowse link
G KCNJ9 potassium inwardly rectifying channel subfamily J member 9 IAGP ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr 1:160,081,538...160,090,563
Ensembl chr 1:160,081,538...160,090,563 		JBrowse link
G LOC129931687 ATAC-STARR-seq lymphoblastoid silent region 1457 IAGP ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome ClinVar NCBI chr 1:160,070,122...160,070,351 JBrowse link
Ehlers-Danlos syndrome kyphoscoliotic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP1 aquaporin 1 (Colton blood group) IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 7:30,911,853...30,925,516
Ensembl chr 7:30,911,853...30,925,517 		JBrowse link
G CRHR2 corticotropin releasing hormone receptor 2 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 7:30,651,942...30,700,103
Ensembl chr 7:30,651,942...30,700,129 		JBrowse link
G FKBP14 FKBP prolyl isomerase 14 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 		ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22265013 PMID:24677762 More... NCBI chr 7:30,005,923...30,026,702
Ensembl chr 7:30,010,587...30,026,702 		JBrowse link
G FKBP14-AS1 FKBP14 antisense RNA 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 		ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:22265013 PMID:24677762 More... NCBI chr 7:29,988,656...30,027,241 JBrowse link
G GARS1 glycyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 7:30,594,735...30,634,033
Ensembl chr 7:30,580,533...30,634,033 		JBrowse link
G GGCT gamma-glutamylcyclotransferase IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 7:30,496,621...30,504,829
Ensembl chr 7:30,496,621...30,504,841 		JBrowse link
G GHRHR growth hormone releasing hormone receptor IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 7:30,963,953...30,979,528
Ensembl chr 7:30,938,669...30,993,254 		JBrowse link
G INMT indolethylamine N-methyltransferase IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 7:30,752,135...30,757,602
Ensembl chr 7:30,697,985...30,757,602 		JBrowse link
G MINDY4 MINDY lysine 48 deubiquitinase 4 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 7:30,771,417...30,892,387
Ensembl chr 7:30,771,417...30,892,387 		JBrowse link
G MTURN maturin, neural progenitor differentiation regulator homolog IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 7:30,134,986...30,162,762
Ensembl chr 7:30,134,986...30,162,765 		JBrowse link
G NOD1 nucleotide binding oligomerization domain containing 1 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 7:30,424,527...30,478,784
Ensembl chr 7:30,424,527...30,478,784 		JBrowse link
G PLEKHA8 pleckstrin homology domain containing A8 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 7:30,028,412...30,130,483
Ensembl chr 7:30,027,404...30,130,483 		JBrowse link
G ZNRF2 zinc and ring finger 2 IAGP ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 7:30,284,597...30,367,689
Ensembl chr 7:30,284,597...30,367,689 		JBrowse link
Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD151 CD151 molecule (Raph blood group) IAGP
EXP 		ClinVar Annotator: match by term: Epidermolysis bullosa simplex 7, with nephropathy and deafness
ClinVar Annotator: match by term: CD151-related condition
ClinVar Annotator: match by term: CD151-related condition | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 7, with nephropathy and deafness
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:9536098 PMID:15265795 PMID:17576681 PMID:25741868 PMID:25741871 More... NCBI chr11:832,952...838,831
Ensembl chr11:832,887...839,831 		JBrowse link
Familial Visceral Neuropathy 2, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP ClinVar Annotator: match by term: Visceral neuropathy, familial, 2, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28164408 PMID:28492532 PMID:29072371 PMID:33497358 More... NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426 		JBrowse link
Fine-Lubinsky Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HDLBP high density lipoprotein binding protein IAGP ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:25741868 NCBI chr 2:241,227,291...241,315,672
Ensembl chr 2:241,227,264...241,317,061 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:22162478 PMID:25741868 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:25741868 NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496 		JBrowse link
Forney Robinson Pascoe Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
Griscelli syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAB27A RAB27A, member RAS oncogene family IAGP ClinVar Annotator: match by term: Griscelli syndrome ClinVar PMID:10835631 PMID:12148598 PMID:16551969 PMID:18350256 PMID:19953648 More... NCBI chr15:55,202,966...55,289,813
Ensembl chr15:55,202,966...55,319,113 		JBrowse link
Griscelli syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130057087 ATAC-STARR-seq lymphoblastoid active region 9427 IAGP ClinVar Annotator: match by term: MYO5A-related condition ClinVar PMID:28492532 NCBI chr15:52,379,319...52,379,708 JBrowse link
G LOC130057090 ATAC-STARR-seq lymphoblastoid silent region 6447 IAGP ClinVar Annotator: match by term: MYO5A-related condition ClinVar PMID:28492532 NCBI chr15:52,528,530...52,529,409 JBrowse link
G MYO5A myosin VA IAGP
EXP 		ClinVar Annotator: match by term: Griscelli syndrome type 1
ClinVar Annotator: match by term: MYO5A-related condition
ClinVar Annotator: match by term: Griscelli syndrome type 1 | ClinVar Annotator: match by term: MYO5A-related condition
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:9207796 PMID:9536098 PMID:10704277 PMID:12058346 PMID:17576681 More... NCBI chr15:52,307,283...52,529,050
Ensembl chr15:52,307,281...52,529,132 		JBrowse link
Griscelli syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCPG1 cell cycle progression 1 IAGP ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr15:55,355,239...55,408,359
Ensembl chr15:55,340,032...55,408,510 		JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 IAGP ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234 		JBrowse link
G PIERCE2 piercer of microtubule wall 2 IAGP ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr15:55,408,495...55,418,798
Ensembl chr15:55,408,495...55,418,798 		JBrowse link
G PIGB phosphatidylinositol glycan anchor biosynthesis class B IAGP ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:10835631 PMID:23160464 PMID:28492532 NCBI chr15:55,319,222...55,355,648
Ensembl chr15:55,318,960...55,355,648 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family IAGP
EXP 		ClinVar Annotator: match by term: PAID SYNDROME
ClinVar Annotator: match by term: Griscelli syndrome type 2
ClinVar Annotator: match by term: Griscelli syndrome type 2 | ClinVar Annotator: match by term: PAID SYNDROME | ClinVar Annotator: match by term: PARTIAL ALBINISM AND IMMUNODEFICIENCY SYNDROME
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12148598 More... NCBI chr15:55,202,966...55,289,813
Ensembl chr15:55,202,966...55,319,113 		JBrowse link
Griscelli syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR6811 microRNA 6811 IAGP ClinVar Annotator: match by term: Griscelli syndrome type 3 ClinVar PMID:25741868 NCBI chr 2:237,510,931...237,510,988
Ensembl chr 2:237,510,931...237,510,988 		JBrowse link
G MLPH melanophilin IAGP
EXP 		ClinVar Annotator: match by term: MLPH-related condition
ClinVar Annotator: match by term: Griscelli syndrome type 3 | ClinVar Annotator: match by term: MLPH-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:12148598 PMID:12897212 PMID:21883982 PMID:22711375 PMID:25741868 More... NCBI chr 2:237,486,410...237,555,322
Ensembl chr 2:237,485,428...237,555,322 		JBrowse link
G MYO5A myosin VA IAGP ClinVar Annotator: match by term: Griscelli syndrome type 3 ClinVar PMID:12148598 PMID:12897212 PMID:22711375 PMID:25283056 NCBI chr15:52,307,283...52,529,050
Ensembl chr15:52,307,281...52,529,132 		JBrowse link
Hearing Loss, Cisplatin-Induced term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAMK2A calcium/calmodulin dependent protein kinase II alpha treatment ISO RGD PMID:23558232 RGD:9685025 NCBI chr 5:150,219,491...150,290,130
Ensembl chr 5:150,219,491...150,290,093 		JBrowse link
G CAMK2B calcium/calmodulin dependent protein kinase II beta treatment ISO RGD PMID:23558232 RGD:9685025 NCBI chr 7:44,217,154...44,326,013
Ensembl chr 7:44,210,019...44,334,577 		JBrowse link
G CAT catalase ISO protein:decreased expression:cochlear: RGD PMID:10220857 RGD:9197256 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G GSK3B glycogen synthase kinase 3 beta treatment ISO RGD PMID:19666099 RGD:10045579 NCBI chr 3:119,821,321...120,094,447
Ensembl chr 3:119,821,321...120,094,994 		JBrowse link
Hearing Loss, Noise-Induced term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARC activity regulated cytoskeleton associated protein ISO RGD PMID:17275194 RGD:8655559 NCBI chr 8:142,611,049...142,614,479
Ensembl chr 8:142,611,049...142,614,479 		JBrowse link
G BDNF brain derived neurotrophic factor ISO protein:increased expression:cochlea: RGD PMID:19925854 PMID:22723694 PMID:17275194 RGD:8636263, RGD:8655575, RGD:8655559 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058 		JBrowse link
G CALB1 calbindin 1 ISO RGD PMID:22428005 RGD:401940127 NCBI chr 8:90,058,608...90,082,879
Ensembl chr 8:90,058,608...90,095,475 		JBrowse link
G CAT catalase susceptibility
severity
treatment 		IAGP
IEP
ISO 		DNA:SNPs,haplotype:: RGD PMID:17567781 PMID:18212468 PMID:23179931 RGD:9068906, RGD:9190810, RGD:9068923 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:cochlea (mouse) RGD PMID:17081714 RGD:8549464 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:17075702 RGD:8657356 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940 		JBrowse link
G CDH23 cadherin related 23 no_association IAGP DNA:SNPs: :rs1227049, rs3802711 (human)
DNA:SNPs: :rs1227049, rs1227051 (human) 		RGD PMID:16598924 PMID:16598924 RGD:8662283, RGD:8662283 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO RGD PMID:21187137 RGD:8661793 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397 		JBrowse link
G CFI complement factor I ISO mRNA:increased expression:spiral organ of cochlea, sensory epithelium RGD PMID:23727008 RGD:8662317 NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150 		JBrowse link
G CNTN1 contactin 1 ISO RGD PMID:22044737 RGD:5685697 NCBI chr12:40,692,439...41,072,415
Ensembl chr12:40,692,439...41,072,415 		JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO RGD PMID:22428005 RGD:401940127 NCBI chr 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981 		JBrowse link
G GAD1 glutamate decarboxylase 1 ISO RGD PMID:22428005 RGD:401940127 NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151 		JBrowse link
G GAP43 growth associated protein 43 ISO RGD PMID:22428005 RGD:401940127 NCBI chr 3:115,623,510...115,721,483
Ensembl chr 3:115,623,510...115,721,490 		JBrowse link
G GJB2 gap junction protein beta 2 ISO protein:increased expression:cochlea: RGD PMID:15224875 RGD:7349367 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility
no_association 		IAGP DNA:deletion, haplotype:cds (human)
DNA:deletion:cds (human) 		RGD PMID:19643173 PMID:16535824 RGD:7488956, RGD:7495798 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G GSTT1 glutathione S-transferase theta 1 susceptibility
no_association 		IAGP DNA:deletion:cds (human) RGD PMID:16535824 PMID:15811702 RGD:7495798, RGD:7794850
G HIF1A hypoxia inducible factor 1 subunit alpha treatment ISO RGD PMID:21787680 RGD:8695948 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259 		JBrowse link
G HSPA1A heat shock protein family A (Hsp70) member 1A IAGP DNA:SNP, haplotype: :rs1043618 (human) RGD PMID:17009596 RGD:8662466 NCBI chr 6:31,815,543...31,817,942
Ensembl chr 6:31,815,543...31,817,946 		JBrowse link
G HSPA1B heat shock protein family A (Hsp70) member 1B IAGP DNA:SNP, haplotype: :rs1061581 (human) RGD PMID:18813331 RGD:8662841 NCBI chr 6:31,827,738...31,830,254
Ensembl chr 6:31,827,738...31,830,254 		JBrowse link
G HSPA1L heat shock protein family A (Hsp70) member 1 like IAGP DNA:SNP, haplotype: :rs2227956 (human) RGD PMID:17009596 RGD:8662466 NCBI chr 6:31,809,619...31,815,283
Ensembl chr 6:31,809,619...31,815,283 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO RGD PMID:19213042 RGD:8547577 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G IGF1 insulin like growth factor 1 IEP RGD PMID:16585854 RGD:8549455 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IL6 interleukin 6 ISO RGD PMID:16429448 RGD:7829818 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Noise induced hearing loss 		CTD
ClinVar		 PMID:7828904 PMID:9445165 PMID:12402336 PMID:14661677 PMID:14760488 More... NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16823764 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G KCNQ4 potassium voltage-gated channel subfamily Q member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16823764 NCBI chr 1:40,783,787...40,840,452
Ensembl chr 1:40,783,787...40,840,452 		JBrowse link
G MIR107 microRNA 107 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr10:89,592,747...89,592,827
Ensembl chr10:89,592,747...89,592,827 		JBrowse link
G MIR10A microRNA 10a EXP CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr17:48,579,838...48,579,947
Ensembl chr17:48,579,838...48,579,947 		JBrowse link
G MIR130B microRNA 130b EXP CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr22:21,653,304...21,653,385
Ensembl chr22:21,653,304...21,653,385 		JBrowse link
G MIR146B microRNA 146b EXP CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr10:102,436,512...102,436,584
Ensembl chr10:102,436,512...102,436,584 		JBrowse link
G MIR183 microRNA 183 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 7:129,774,905...129,775,014
Ensembl chr 7:129,774,905...129,775,014 		JBrowse link
G MIR186 microRNA 186 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 1:71,067,631...71,067,716
Ensembl chr 1:71,067,631...71,067,716 		JBrowse link
G MIR190B microRNA 190b EXP CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 1:154,193,665...154,193,743
Ensembl chr 1:154,193,665...154,193,743 		JBrowse link
G MIR200C microRNA 200c EXP CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr12:6,963,699...6,963,766
Ensembl chr12:6,963,699...6,963,766 		JBrowse link
G MIR30D microRNA 30d EXP CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 8:134,804,876...134,804,945
Ensembl chr 8:134,804,876...134,804,945 		JBrowse link
G MIR30E microRNA 30e EXP CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 1:40,754,355...40,754,446
Ensembl chr 1:40,754,355...40,754,446 		JBrowse link
G MIR325 microRNA 325 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr  X:77,005,404...77,005,501
Ensembl chr  X:77,005,404...77,005,501 		JBrowse link
G MIR331 microRNA 331 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr12:95,308,420...95,308,513
Ensembl chr12:95,308,420...95,308,513 		JBrowse link
G MIR339 microRNA 339 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 7:1,022,933...1,023,026
Ensembl chr 7:1,022,933...1,023,026 		JBrowse link
G MIR381 microRNA 381 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr14:101,045,920...101,045,994
Ensembl chr14:101,045,920...101,045,994 		JBrowse link
G MIR429 microRNA 429 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 1:1,169,005...1,169,087
Ensembl chr 1:1,169,005...1,169,087 		JBrowse link
G MIR532 microRNA 532 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr  X:50,003,148...50,003,238
Ensembl chr  X:50,003,148...50,003,238 		JBrowse link
G MIR99B microRNA 99b EXP CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr19:51,692,612...51,692,681
Ensembl chr19:51,692,612...51,692,681 		JBrowse link
G MMP7 matrix metallopeptidase 7 ISO RGD PMID:23100416 RGD:9685340 NCBI chr11:102,520,508...102,530,747
Ensembl chr11:102,520,508...102,530,750 		JBrowse link
G NOB1 NIN1 (RPN12) binding protein 1 homolog ISO mRNA:increased expression:cochlea RGD PMID:21219967 RGD:10766449 NCBI chr16:69,741,871...69,754,926
Ensembl chr16:69,741,871...69,754,926 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO protein:increased expression:hippocampus RGD PMID:31071644 RGD:408364986 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase susceptibility IAGP
EXP 		DNA:missense mutation:exon:p.S326C (rs1052133) (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:24599382 PMID:24599382 RGD:8657374 NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219 		JBrowse link
G PON2 paraoxonase 2 susceptibility IAGP DNA:SNPs: :multiple RGD PMID:23327886 RGD:8661240 NCBI chr 7:95,404,862...95,435,028
Ensembl chr 7:95,404,862...95,435,329 		JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa treatment IDA RGD PMID:25108045 RGD:11100045 NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242 		JBrowse link
G PTGER4 prostaglandin E receptor 4 resistance ISO RGD PMID:22198478 RGD:6483524 NCBI chr 5:40,679,915...40,746,800
Ensembl chr 5:40,679,915...40,693,735 		JBrowse link
G SELL selectin L ISO RGD PMID:22044737 RGD:5685697 NCBI chr 1:169,690,667...169,711,620
Ensembl chr 1:169,690,665...169,711,702 		JBrowse link
G SLC26A5 solute carrier family 26 member 5 ISO mRNA, protein:increased expression:cochlea (mouse) RGD PMID:24376553 RGD:9585684 NCBI chr 7:103,352,730...103,446,207
Ensembl chr 7:103,352,730...103,446,207 		JBrowse link
G SOD1 superoxide dismutase 1 susceptibility
severity 		IAGP
ISO 		DNA:snps, haplotypes:introns:multiple (human)
DNA:snps:introns:IVS2+193T>G (rs10432782), IVS3-251A>G (rs2070424) (human) 		RGD PMID:19895330 PMID:10436316 PMID:22931816 RGD:8655611, RGD:8655966, RGD:8655851 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G SOD2 superoxide dismutase 2 susceptibility IAGP DNA:polymorphisms:intron:IVS3-23T>G, IVS3-60T>G (human)
DNA:SNP:cds:p.V16A(rs4880)(human) 		RGD PMID:15345661 PMID:20534900 RGD:8158044, RGD:8158046 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase treatment ISO RGD PMID:21840347 RGD:11554196 NCBI chr20:37,344,699...37,406,050
Ensembl chr20:37,344,685...37,406,050 		JBrowse link
G TAOK1 TAO kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr17:29,390,363...29,551,903
Ensembl chr17:29,390,363...29,551,903 		JBrowse link
G TNF tumor necrosis factor ISO mRNA:increased expression:cochlea: RGD PMID:19051071 RGD:7394705 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
Hearing Loss, Unilateral Sensorineural term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-B major histocompatibility complex, class I, B IAGP Unilateral Childhood Sensorineural Hearing Loss; DNA:polymorphism:cds:HLA-Bw54 (human) RGD PMID:2909230 RGD:7365120 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
Heimler syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATAD1 GATA zinc finger domain containing 1 IAGP ClinVar Annotator: match by term: Heimler syndrome 1
ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C
ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C 		ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chr 7:92,447,482...92,495,769
Ensembl chr 7:92,447,482...92,460,075 		JBrowse link
G LOC129998796 ATAC-STARR-seq lymphoblastoid silent region 18372 IAGP ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C
ClinVar Annotator: match by term: Heimler syndrome 1 		ClinVar PMID:9398847 PMID:16086329 PMID:16141001 PMID:21031596 PMID:25741868 More... NCBI chr 7:92,528,349...92,528,578 JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP
EXP 		ClinVar Annotator: match by term: Heimler syndrome 1
ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C
ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:1301993 PMID:2063923 PMID:2324705 PMID:3196484 PMID:9398847 More... NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		JBrowse link
G PEX26 peroxisomal biogenesis factor 26 IAGP ClinVar Annotator: match by term: Heimler syndrome 1 ClinVar PMID:28492532 NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181 		JBrowse link
HID Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 IAGP
EXP 		ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness
ClinVar Annotator: match by term: HID SYNDROME
ClinVar Annotator: match by term: HID SYNDROME | ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
high myopia-sensorineural deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLITRK6 SLIT and NTRK like family member 6 IAGP
ISS 		ClinVar Annotator: match by term: High myopia-sensorineural deafness syndrome
ClinVar Annotator: match by term: SLITRK6-related condition
ClinVar Annotator: match by term: High myopia-sensorineural deafness syndrome | ClinVar Annotator: match by term: SLITRK6-related condition
OMIM:221200
ClinVar Annotator: match by term: Deafness and myopia 		ClinVar
MouseDO
OMIM		 PMID:23543054 PMID:23946138 PMID:24033266 PMID:25363768 PMID:25741868 More... NCBI chr13:85,792,790...85,799,419
Ensembl chr13:85,792,790...85,806,683 		JBrowse link
High-Frequency Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNF tumor necrosis factor ISO RGD PMID:23996384 RGD:7394699 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
histiocytosis-lymphadenopathy plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130004025 ATAC-STARR-seq lymphoblastoid silent region 2461 IAGP ClinVar Annotator: match by term: H syndrome ClinVar PMID:16199547 PMID:19336477 PMID:20595384 PMID:22653152 PMID:23406517 More... NCBI chr10:71,319,056...71,319,505 JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP
EXP 		ClinVar Annotator: match by term: H syndrome
ClinVar Annotator: match by term: H syndrome | ClinVar Annotator: match by term: Histiocytosis-lymphadenopathy plus syndrome
ClinVar Annotator: match by term: Faisalabad histiocytosis
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:9536098 PMID:9545394 PMID:16118898 PMID:16155931 PMID:16199547 More... NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
Hittner Hirsch Kreh Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:9536098 PMID:15300250 PMID:16155193 PMID:16400610 PMID:16615981 More... NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G EP300 E1A binding protein p300 IAGP ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:29300383 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G LOC126860403 CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:61693034-61694233 IAGP ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:22461308 PMID:25741868 PMID:28492532 NCBI chr 8:60,780,475...60,781,674 JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:25741868 PMID:29300383 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G SEMA3E semaphorin 3E IAGP ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:9536098 PMID:15235037 PMID:17576681 PMID:25741868 PMID:25985275 More... NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139 		JBrowse link
Hypokalemic Tubulopathy and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNJ16 potassium inwardly rectifying channel subfamily J member 16 IAGP ClinVar Annotator: match by term: Hypokalemic tubulopathy and deafness OMIM
ClinVar		 PMID:25741868 PMID:33811157 NCBI chr17:70,075,225...70,135,608
Ensembl chr17:70,053,429...70,135,608 		JBrowse link
hypoparathyroidism-deafness-renal disease syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACBD7 acyl-CoA binding domain containing 7 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:15,075,475...15,088,776
Ensembl chr10:15,075,475...15,088,776 		JBrowse link
G AKR1C1 aldo-keto reductase family 1 member C1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:4,963,415...4,983,283
Ensembl chr10:4,963,253...4,983,283 		JBrowse link
G AKR1C2 aldo-keto reductase family 1 member C2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:4,987,775...5,018,000
Ensembl chr10:4,987,775...5,018,031 		JBrowse link
G AKR1C3 aldo-keto reductase family 1 member C3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,048,781...5,107,686
Ensembl chr10:5,035,354...5,107,686 		JBrowse link
G AKR1C4 aldo-keto reductase family 1 member C4 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,196,837...5,218,949
Ensembl chr10:5,195,462...5,218,949 		JBrowse link
G AKR1E2 aldo-keto reductase family 1 member E2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:4,824,973...4,873,237
Ensembl chr10:4,786,629...4,848,062 		JBrowse link
G ANKRD16 ankyrin repeat domain 16 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,861,616...5,889,893
Ensembl chr10:5,861,616...5,889,906 		JBrowse link
G ARL5B ARF like GTPase 5B IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:18,659,431...18,681,639
Ensembl chr10:18,659,431...18,681,639 		JBrowse link
G ASB13 ankyrin repeat and SOCS box containing 13 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,638,867...5,666,595
Ensembl chr10:5,638,867...5,666,595 		JBrowse link
G ATP5F1C ATP synthase F1 subunit gamma IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:7,788,177...7,807,801
Ensembl chr10:7,788,147...7,807,815 		JBrowse link
G BEND7 BEN domain containing 7 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:13,438,481...13,529,634
Ensembl chr10:13,438,484...13,529,014 		JBrowse link
G C1QL3 complement C1q like 3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:16,513,734...16,521,879
Ensembl chr10:16,513,734...16,521,879 		JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:18,140,424...18,543,557
Ensembl chr10:18,140,424...18,543,557 		JBrowse link
G CALML3 calmodulin like 3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,524,961...5,526,771
Ensembl chr10:5,524,961...5,526,771 		JBrowse link
G CALML3-AS1 CALML3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,514,244...5,526,246
Ensembl chr10:5,510,036...5,551,111 		JBrowse link
G CALML5 calmodulin like 5 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,498,697...5,499,570
Ensembl chr10:5,498,697...5,499,570 		JBrowse link
G CAMK1D calcium/calmodulin dependent protein kinase ID IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:12,349,547...12,835,545
Ensembl chr10:12,349,547...12,835,545 		JBrowse link
G CCDC3 coiled-coil domain containing 3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:12,896,625...13,099,989
Ensembl chr10:12,896,625...13,099,652 		JBrowse link
G CDC123 cell division cycle 123 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:12,196,188...12,250,589
Ensembl chr10:12,195,965...12,250,589 		JBrowse link
G CDNF cerebral dopamine neurotrophic factor IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:14,819,245...14,838,037
Ensembl chr10:14,819,245...14,838,575 		JBrowse link
G CELF2 CUGBP Elav-like family member 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:10,462,550...11,336,675
Ensembl chr10:10,798,397...11,336,675 		JBrowse link
G CUBN cubilin IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:16,823,966...17,129,811
Ensembl chr10:16,823,966...17,129,811 		JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432 		JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:12,068,954...12,123,221
Ensembl chr10:12,068,954...12,123,221 		JBrowse link
G ECHDC3 enoyl-CoA hydratase domain containing 3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:11,742,382...11,764,070
Ensembl chr10:11,742,366...11,764,070 		JBrowse link
G FAM107B family with sequence similarity 107 member B IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:14,518,557...14,774,897
Ensembl chr10:14,518,557...14,774,897 		JBrowse link
G FAM171A1 family with sequence similarity 171 member A1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:15,211,643...15,374,554
Ensembl chr10:15,211,643...15,371,289 		JBrowse link
G FBH1 F-box DNA helicase 1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,889,572...5,937,593
Ensembl chr10:5,890,203...5,937,594 		JBrowse link
G FRMD4A FERM domain containing 4A IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:13,643,706...14,330,924
Ensembl chr10:13,643,706...14,462,142 		JBrowse link
G GATA3 GATA binding protein 3 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar Annotator: match by term: GATA3-related condition | ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
OMIM:146255
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:10935639 PMID:11389161 PMID:14985365 PMID:15705923 More... NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198 		JBrowse link
G GDI2 GDP dissociation inhibitor 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,765,223...5,813,434
Ensembl chr10:5,765,222...5,842,132 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374 		JBrowse link
G HSPA14 heat shock protein family A (Hsp70) member 14 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:14,838,306...14,871,741
Ensembl chr10:14,838,306...14,871,741 		JBrowse link
G IL15RA interleukin 15 receptor subunit alpha IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,948,900...5,978,741
Ensembl chr10:5,943,639...5,978,187 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G ITGA8 integrin subunit alpha 8 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:15,513,954...15,719,922
Ensembl chr10:15,513,954...15,719,922 		JBrowse link
G ITIH2 inter-alpha-trypsin inhibitor heavy chain 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:7,703,316...7,749,520
Ensembl chr10:7,703,316...7,749,520 		JBrowse link
G ITIH5 inter-alpha-trypsin inhibitor heavy chain 5 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:7,559,270...7,666,966
Ensembl chr10:7,559,270...7,666,998 		JBrowse link
G KIN Kin17 DNA and RNA binding protein IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:7,750,962...7,787,993
Ensembl chr10:7,750,962...7,787,993 		JBrowse link
G LOC130003278 ATAC-STARR-seq lymphoblastoid silent region 2118 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr10:8,055,838...8,055,917 JBrowse link
G MCM10 minichromosome maintenance 10 replication initiation factor IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:13,161,558...13,211,110
Ensembl chr10:13,161,558...13,211,110 		JBrowse link
G MEIG1 meiosis/spermiogenesis associated 1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:14,954,228...14,988,050
Ensembl chr10:14,959,388...14,988,050 		JBrowse link
G MINDY3 MINDY lysine 48 deubiquitinase 3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:15,778,174...15,860,507
Ensembl chr10:15,778,170...15,860,507 		JBrowse link
G NET1 neuroepithelial cell transforming 1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,412,557...5,459,056
Ensembl chr10:5,412,557...5,459,056 		JBrowse link
G NMT2 N-myristoyltransferase 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:15,105,700...15,168,693
Ensembl chr10:15,102,584...15,168,693 		JBrowse link
G NSUN6 NOP2/Sun RNA methyltransferase 6 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:18,545,561...18,659,327
Ensembl chr10:18,545,561...18,659,285 		JBrowse link
G NUDT5 nudix hydrolase 5 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:12,165,330...12,195,891
Ensembl chr10:12,165,330...12,195,891 		JBrowse link
G OLAH oleoyl-ACP hydrolase IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:15,032,195...15,073,853
Ensembl chr10:15,032,227...15,073,853 		JBrowse link
G OPTN optineurin IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308 		JBrowse link
G PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:6,144,921...6,326,637
Ensembl chr10:6,144,934...6,254,644 		JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412 		JBrowse link
G PRKCQ protein kinase C theta IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:6,394,097...6,580,646
Ensembl chr10:6,427,143...6,580,301 		JBrowse link
G PROSER2 proline and serine rich 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:11,823,356...11,872,277
Ensembl chr10:11,823,339...11,872,277 		JBrowse link
G PRPF18 pre-mRNA processing factor 18 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:13,586,965...13,655,929
Ensembl chr10:13,586,939...13,668,445 		JBrowse link
G PTER phosphotriesterase related IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:16,437,010...16,519,020
Ensembl chr10:16,436,943...16,513,745 		JBrowse link
G RBM17 RNA binding motif protein 17 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:6,089,034...6,117,447
Ensembl chr10:6,089,034...6,117,457 		JBrowse link
G RPP38 ribonuclease P/MRP subunit p38 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:15,097,355...15,104,257
Ensembl chr10:15,097,180...15,139,818 		JBrowse link
G RPP38-DT RPP38 divergent transcript IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:15,095,385...15,097,319
Ensembl chr10:15,095,385...15,097,319 		JBrowse link
G RSU1 Ras suppressor protein 1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:16,590,611...16,817,424
Ensembl chr10:16,590,611...16,817,463 		JBrowse link
G SEC61A2 SEC61 translocon subunit alpha 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:12,129,641...12,169,958
Ensembl chr10:12,129,637...12,169,961 		JBrowse link
G SEPHS1 selenophosphate synthetase 1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:13,317,428...13,348,293
Ensembl chr10:13,317,428...13,348,298 		JBrowse link
G SFMBT2 Scm like with four mbt domains 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:7,158,624...7,411,490
Ensembl chr10:7,158,624...7,411,488 		JBrowse link
G SLC39A12 solute carrier family 39 member 12 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:17,951,918...18,043,285
Ensembl chr10:17,951,839...18,043,292 		JBrowse link
G ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:17,315,421...17,454,595
Ensembl chr10:17,315,421...17,454,595 		JBrowse link
G STAM signal transducing adaptor molecule IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:17,644,151...17,716,824
Ensembl chr10:17,644,151...17,716,824 		JBrowse link
G SUV39H2 SUV39H2 histone lysine methyltransferase IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:14,878,866...14,904,315
Ensembl chr10:14,878,820...14,904,315 		JBrowse link
G TAF3 TATA-box binding protein associated factor 3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:7,818,505...8,016,631
Ensembl chr10:7,818,497...8,016,631 		JBrowse link
G TASOR2 transcription activation suppressor family member 2 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,684,838...5,763,740
Ensembl chr10:5,684,731...5,763,779 		JBrowse link
G TRDMT1 tRNA aspartic acid methyltransferase 1 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:17,137,336...17,201,672
Ensembl chr10:17,137,336...17,202,054 		JBrowse link
G TUBAL3 tubulin alpha like 3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,393,101...5,404,828
Ensembl chr10:5,393,101...5,404,828 		JBrowse link
G UCMA upper zone of growth plate and cartilage matrix associated IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:13,221,766...13,234,374
Ensembl chr10:13,221,766...13,234,374 		JBrowse link
G UCN3 urocortin 3 IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:5,364,966...5,374,692
Ensembl chr10:5,364,966...5,374,692 		JBrowse link
G UPF2 UPF2 regulator of nonsense mediated mRNA decay IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:11,920,022...12,043,170
Ensembl chr10:11,920,022...12,043,170 		JBrowse link
G USP6NL USP6 N-terminal like IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:11,460,510...11,611,650
Ensembl chr10:11,460,510...11,611,666 		JBrowse link
G VIM vimentin IAGP ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593 		JBrowse link
Ichthyosiform Erythroderma, Corneal Involvement, Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP1B1 adaptor related protein complex 1 subunit beta 1 IAGP ClinVar Annotator: match by term: Autosomal recessive keratitis-ichthyosis-deafness syndrome OMIM
ClinVar		 PMID:25741868 PMID:31630788 PMID:31630791 PMID:32969855 PMID:33349978 More... NCBI chr22:29,327,680...29,388,570
Ensembl chr22:29,327,680...29,388,583 		JBrowse link
Insulin-Like Growth Factor I Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGF1 insulin like growth factor 1 IAGP
EXP 		ClinVar Annotator: match by term: Growth retardation with sensorineural deafness and mental retardation
ClinVar Annotator: match by term: Growth retardation with sensorineural deafness and mental retardation | ClinVar Annotator: match by term: Insulin-like growth factor I deficiency
ClinVar Annotator: match by term: Growth retardation with sensorineural deafness and mental retardation | ClinVar Annotator: match by term: IGF1-related condition
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:8857020 PMID:14684690 PMID:15769976 PMID:18317720 PMID:19240240 More... NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G LINC02456 long intergenic non-protein coding RNA 2456 IAGP ClinVar Annotator: match by term: Growth retardation with sensorineural deafness and mental retardation
ClinVar Annotator: match by term: Growth retardation with sensorineural deafness and mental retardation | ClinVar Annotator: match by term: Insulin-like growth factor I deficiency
ClinVar Annotator: match by term: Growth retardation with sensorineural deafness and mental retardation | ClinVar Annotator: match by term: IGF1-related condition 		ClinVar PMID:14684690 PMID:15769976 PMID:18317720 PMID:19240240 PMID:21915365 More... NCBI chr12:102,279,574...102,711,995
Ensembl chr12:102,257,213...102,463,502 		JBrowse link
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITM2B integral membrane protein 2B IAGP
EXP 		ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:5457846 PMID:10781099 PMID:25741868 PMID:28492532 PMID:31719132 NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357 		JBrowse link
G LOC130009751 ATAC-STARR-seq lymphoblastoid silent region 5331 IAGP ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica ClinVar PMID:25741868 NCBI chr13:48,233,082...48,233,441 JBrowse link
G LOC130009752 ATAC-STARR-seq lymphoblastoid silent region 5332 IAGP ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica ClinVar PMID:25741868 PMID:28492532 PMID:31719132 NCBI chr13:48,233,452...48,233,661 JBrowse link
IVIC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SALL4 spalt like transcription factor 4 IAGP
EXP 		ClinVar Annotator: match by term: Oculootoradial syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders 		OMIM
ClinVar
CTD		 PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
Johanson-Blizzard syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130056936 ATAC-STARR-seq lymphoblastoid active region 9309 IAGP ClinVar Annotator: match by term: Johanson-Blizzard syndrome ClinVar PMID:25741868 NCBI chr15:43,105,857...43,106,136 JBrowse link
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 IAGP
EXP
ISS 		ClinVar Annotator: match by term: Johanson-Blizzard syndrome
ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: UBR1-related condition
CTD Direct Evidence: marker/mechanism
OMIM:243800
DNA:mutation:exon:exon 15, c.1759C>T, p.Q587X (human)
DNA:splice-site mutation:cds:IVS26+5G>A (human) 		ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:16311597 PMID:18553553 PMID:19006206 PMID:19058315 PMID:20556423 More... RGD:155882463, RGD:155882462 NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113 		JBrowse link
Keipert syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPC4 glypican 4 IAGP ClinVar Annotator: match by term: Keipert syndrome
ClinVar Annotator: match by term: GPC4-related condition | ClinVar Annotator: match by term: Keipert syndrome 		OMIM
ClinVar		 PMID:4708024 PMID:25741868 PMID:30982611 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
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 IAGP ClinVar Annotator: match by term: Keratitis-Ichthyosis-Deafness Syndrome ClinVar PMID:22567369 PMID:25741868 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C12orf43 chromosome 12 open reading frame 43 IAGP ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive ClinVar PMID:30561130 NCBI chr12:121,000,486...121,016,487
Ensembl chr12:121,000,486...121,016,502 		JBrowse link
G HNF1A HNF1 homeobox A IAGP ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive ClinVar PMID:30561130 NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated IAGP ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive OMIM
ClinVar		 PMID:8151641 PMID:9536098 PMID:11668108 PMID:15052268 PMID:16199547 More... NCBI chr15:90,998,416...91,022,621
Ensembl chr15:90,998,673...91,022,603 		JBrowse link
Kilquist Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129994526 ATAC-STARR-seq lymphoblastoid silent region 16295 IAGP ClinVar Annotator: match by term: Kilquist syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:128,083,430...128,084,259 JBrowse link
G SLC12A2 solute carrier family 12 member 2 IAGP ClinVar Annotator: match by term: Kilquist syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30740830 PMID:32294086 PMID:32658972 More... NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677 		JBrowse link
lacrimoauriculodentodigital syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF10 fibroblast growth factor 10 ISS
IAGP 		OMIM:149730
ClinVar Annotator: match by term: Levy-Hollister syndrome 		MouseDO
ClinVar		 PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP ClinVar Annotator: match by term: Levy-Hollister syndrome
ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 1 | ClinVar Annotator: match by term: Levy-Hollister syndrome
ClinVar Annotator: match by term: LADD syndrome 1 | ClinVar Annotator: match by term: Levy-Hollister syndrome 		OMIM
ClinVar		 PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Levy-Hollister syndrome
ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 1 		ClinVar PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
lacrimoauriculodentodigital syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: LADD SYNDROME 2
ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 2 		OMIM
ClinVar		 PMID:1908846 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
lacrimoauriculodentodigital syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF10 fibroblast growth factor 10 IAGP ClinVar Annotator: match by term: LADD syndrome 3
ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 3 		OMIM
ClinVar		 PMID:15654336 PMID:16501574 PMID:16630169 PMID:25741868 PMID:28492532 More... NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706 		JBrowse link
LADD syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF10 fibroblast growth factor 10 IAGP ClinVar Annotator: match by term: Levy-Hollister syndrome
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome 		ClinVar PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP
EXP 		ClinVar Annotator: match by term: Levy-Hollister syndrome
ClinVar Annotator: match by term: LADD syndrome
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: LADD syndrome
ClinVar Annotator: match by term: Levy-Hollister syndrome
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome 		ClinVar PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KARS1 lysyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Leukoencephalopathy, progressive, infantile-onset, with or without deafness
ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS 		OMIM
ClinVar		 PMID:21181198 PMID:21427441 PMID:23596069 PMID:23768514 PMID:24824130 More... NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		JBrowse link
G LOC126862402 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:75663368-75664567 IAGP ClinVar Annotator: match by term: Leukoencephalopathy, progressive, infantile-onset, with or without deafness
ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS 		ClinVar PMID:21427441 PMID:25741868 PMID:28492532 PMID:28887846 PMID:29615062 More... NCBI chr16:75,629,470...75,630,669 JBrowse link
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLD1 DNA polymerase delta 1, catalytic subunit susceptibility IAGP ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome ClinVar
OMIM		 PMID:7704014 PMID:9536098 PMID:17576681 PMID:19966286 PMID:21157497 More... NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
Marshall syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A1 collagen type XI alpha 1 chain susceptibility IAGP
EXP 		DNA:SNP:splice junction:
ClinVar Annotator: match by term: Marshall syndrome
ClinVar Annotator: match by term: Deafness, myopia, cataract, saddle nose-Marshall type | ClinVar Annotator: match by term: Marshall syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
RGD		 PMID:9129742 PMID:9529347 PMID:9536098 PMID:9792885 PMID:10486316 More... RGD:1600881 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G LOC126805814 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:103344928-103346127 IAGP ClinVar Annotator: match by term: Marshall syndrome
ClinVar Annotator: match by term: Deafness, myopia, cataract, saddle nose-Marshall type 		ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:102,879,372...102,880,571 JBrowse link
G PCDH12 protocadherin 12 IAGP ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:141,943,581...141,958,202
Ensembl chr 5:141,943,581...141,969,741 		JBrowse link
G RNF14 ring finger protein 14 IAGP ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:141,949,337...141,990,292
Ensembl chr 5:141,958,328...141,990,292 		JBrowse link
G RNPC3 RNA binding region (RNP1, RRM) containing 3 IAGP ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 NCBI chr 1:103,525,699...103,555,239
Ensembl chr 1:103,525,691...103,555,239 		JBrowse link
Marshall/Stickler Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A1 collagen type XI alpha 1 chain IAGP ClinVar Annotator: match by term: Marshall/Stickler syndrome ClinVar PMID:1536174 PMID:10486316 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
Microtia, Hearing Impairment, and Cleft Palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXA1 homeobox A1 IAGP ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate ClinVar PMID:25741868 NCBI chr 7:27,092,993...27,096,000
Ensembl chr 7:27,092,993...27,096,000 		JBrowse link
G HOXA2 homeobox A2 IAGP
EXP 		ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microtia with or without hearing impairment 		ClinVar
CTD
OMIM		 PMID:18394579 PMID:23775976 PMID:24239177 PMID:25691070 PMID:25741868 NCBI chr 7:27,100,354...27,102,683
Ensembl chr 7:27,100,354...27,102,686 		JBrowse link
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMMECR1 AMMECR nuclear protein 1 IAGP ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
ClinVar Annotator: match by term: AMMECR1-related condition | ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 		ClinVar
OMIM		 PMID:21681106 PMID:25741868 PMID:27811305 PMID:28089922 PMID:28492532 More... NCBI chr  X:110,194,186...110,440,233
Ensembl chr  X:110,194,186...110,440,318 		JBrowse link
G CRIPTO3 cripto, EGF-CFC family member 3 IAGP ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:110,520,896...110,523,021
Ensembl chr  X:110,520,896...110,523,021 		JBrowse link
G GNG5B G protein subunit gamma 5B IAGP ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:110,346,454...110,346,973
Ensembl chr  X:110,346,103...110,440,372 		JBrowse link
G LOC130068552 ATAC-STARR-seq lymphoblastoid active region 29850 IAGP ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:110,310,861...110,310,910 JBrowse link
G LOC130068553 ATAC-STARR-seq lymphoblastoid active region 29851 IAGP ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:110,310,921...110,310,970 JBrowse link
G LOC130068554 ATAC-STARR-seq lymphoblastoid silent region 20939 IAGP ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:110,315,646...110,315,745 JBrowse link
G LOC130068555 ATAC-STARR-seq lymphoblastoid silent region 20940 IAGP ClinVar Annotator: match by term: AMMECR1-related condition | ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:110,317,798...110,317,857 JBrowse link
G LOC130068556 ATAC-STARR-seq lymphoblastoid active region 29853 IAGP ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:110,341,445...110,341,594 JBrowse link
G LOC130068557 ATAC-STARR-seq lymphoblastoid active region 29854 IAGP ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:110,341,605...110,341,664 JBrowse link
G LOC130068558 ATAC-STARR-seq lymphoblastoid active region 29855 IAGP ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:110,408,028...110,408,077 JBrowse link
G RTL9 retrotransposon Gag like 9 IAGP ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:110,358,848...110,456,334
Ensembl chr  X:110,358,848...110,456,334 		JBrowse link
G TMEM164 transmembrane protein 164 IAGP ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar PMID:21681106 PMID:27811305 PMID:28089922 NCBI chr  X:110,002,369...110,184,251
Ensembl chr  X:110,002,631...110,184,247 		JBrowse link
Mitchell syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOX1 acyl-CoA oxidase 1 IAGP ClinVar Annotator: match by term: Mitchell syndrome OMIM
ClinVar		 PMID:8040306 PMID:16199547 PMID:17458872 PMID:25741868 PMID:28492532 More... NCBI chr17:75,941,507...75,979,166
Ensembl chr17:75,941,507...75,979,177 		JBrowse link
Mitochondrial Myopathy with Lactic Acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP ClinVar Annotator: match by term: Exercise intolerance, muscle pain, and lactic acidemia ClinVar PMID:9778262 PMID:14605505 PMID:16199753 PMID:20064630 PMID:31965079 More... NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G PNPLA8 patatin like phospholipase domain containing 8 IAGP
EXP 		ClinVar Annotator: match by term: PNPLA8-related condition
ClinVar Annotator: match by term: Mitochondrial myopathy with lactic acidosis | ClinVar Annotator: match by term: PNPLA8-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:19840936 PMID:25512002 PMID:25741868 PMID:28492532 PMID:29681094 More... NCBI chr 7:108,470,417...108,528,178
Ensembl chr 7:108,470,417...108,569,666 		JBrowse link
mitochondrial nonsyndromic 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 IAGP ClinVar Annotator: match by term: Deafness, nonsyndromic sensorineural, mitochondrial ClinVar PMID:127819 PMID:1322638 PMID:1634041 PMID:1732158 PMID:6213205 More... NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP ClinVar Annotator: match by term: Deafness, nonsyndromic sensorineural, mitochondrial ClinVar PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-RNR1 mitochondrially encoded 12S rRNA IAGP ClinVar Annotator: match by term: Deafness, nonsyndromic sensorineural, mitochondrial ClinVar PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:648...1,601
Ensembl chr MT:648...1,601 		JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP ClinVar Annotator: match by term: Deafness, nonsyndromic sensorineural, mitochondrial ClinVar PMID:21931169 PMID:31965079 PMID:32906214 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G MT-TI mitochondrially encoded tRNA-Ile (AUU/C) IAGP ClinVar Annotator: match by term: Deafness, nonsyndromic sensorineural, mitochondrial ClinVar PMID:8889580 PMID:9461455 PMID:11406419 PMID:12655007 PMID:15233983 More... NCBI chr MT:4,263...4,331
Ensembl chr MT:4,263...4,331 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP ClinVar Annotator: match by term: Deafness, nonsyndromic sensorineural, mitochondrial ClinVar PMID:127819 PMID:1322638 PMID:1634041 PMID:1732158 PMID:6213205 More... NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GFER growth factor, augmenter of liver regeneration IAGP
EXP 		ClinVar Annotator: match by term: GFER-related condition | ClinVar Annotator: match by term: Myopathy with cataract and combined respiratory-chain deficiency
ClinVar Annotator: match by term: GFER-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED | ClinVar Annotator: match by term: Myopathy with cataract and combined respiratory-chain deficiency
ClinVar Annotator: match by term: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8627443 PMID:16199547 PMID:18414213 PMID:19409522 PMID:20593814 More... NCBI chr16:1,984,193...1,987,749
Ensembl chr16:1,984,193...1,987,749 		JBrowse link
G LOC130058203 ATAC-STARR-seq lymphoblastoid silent region 7014 IAGP ClinVar Annotator: match by term: Myopathy with cataract and combined respiratory-chain deficiency
ClinVar Annotator: match by term: GFER-related condition
ClinVar Annotator: match by term: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 		ClinVar PMID:16199547 PMID:25326635 PMID:25741868 PMID:26757139 PMID:28155230 More... NCBI chr16:1,983,945...1,984,484 JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Myopathy, progressive axial with cataracts ClinVar PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 More... NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP ClinVar Annotator: match by term: Cardiospondylocarpofacial syndrome
DNA:missense mutations, deletions:CDS:multiple (human) 		OMIM
ClinVar
RGD		 PMID:20186786 PMID:25741868 PMID:27426733 PMID:27426734 PMID:28492532 More... RGD:11552967 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
Muckle-Wells syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1RN interleukin 1 receptor antagonist IDA RGD PMID:22146561 RGD:6906895 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP ClinVar Annotator: match by term: UDA syndrome
ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME
ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar Annotator: match by term: UDA syndrome 		ClinVar
OMIM		 PMID:49161 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 More... NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		JBrowse link
multiple epiphyseal dysplasia with myopia and deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP
EXP 		ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, with myopia and conductive deafness
ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, with myopia and conductive deafness | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia, Beighton type
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
Multiple mitochondrial dysfunctions syndrome 9A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FDXR ferredoxin reductase IAGP ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY | ClinVar Annotator: match by term: FDXR-related condition | ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 9A OMIM
ClinVar		 PMID:6766943 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28965846 More... NCBI chr17:74,862,497...74,872,994
Ensembl chr17:74,862,497...74,873,031 		JBrowse link
G GRIN2C glutamate ionotropic receptor NMDA type subunit 2C IAGP ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 9A ClinVar PMID:25741868 NCBI chr17:74,842,023...74,861,532
Ensembl chr17:74,842,023...74,861,504 		JBrowse link
G LOC112533667 Sharpr-MPRA regulatory region 86 IAGP ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 9A ClinVar PMID:25741868 PMID:30250212 NCBI chr17:74,872,346...74,873,338 JBrowse link
multiple synostoses syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF9 fibroblast growth factor 9 IAGP ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar PMID:25741868 NCBI chr13:21,671,073...21,704,498
Ensembl chr13:21,671,073...21,704,498 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP DNA:missense mutation:cds:p.R438L(1313G>T)(human)
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome 		ClinVar
RGD		 PMID:16532400 RGD:12738199 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G LOC109461476 GDF5 promoter region IAGP ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar NCBI chr20:35,437,929...35,438,683 JBrowse link
G NOG noggin IAGP ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:mutation:cds:1426G>C (P.W205C)(Human) 		ClinVar
OMIM
RGD		 PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 More... RGD:1600234, RGD:12801467 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GGPS1 geranylgeranyl diphosphate synthase 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome ClinVar
OMIM		 PMID:25741868 PMID:32403198 PMID:35869884 NCBI chr 1:235,327,216...235,344,532
Ensembl chr 1:235,327,350...235,344,532 		JBrowse link
MYH-9 related disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC112695089 Sharpr-MPRA regulatory region 2056 IAGP ClinVar Annotator: match by term: MYH9-related disorder ClinVar NCBI chr22:36,387,611...36,388,278 JBrowse link
G LOC126863137 CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:36696002-36697201 IAGP ClinVar Annotator: match by term: MYH9-related disorder
ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
ClinVar Annotator: match by term: MYH9-related disorder | ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 		ClinVar PMID:24033266 PMID:24165359 PMID:25077172 PMID:25741868 PMID:27610647 More... NCBI chr22:36,299,956...36,301,155 JBrowse link
G MIR6819 microRNA 6819 IAGP ClinVar Annotator: match by term: MYH9-related disorder ClinVar PMID:28492532 NCBI chr22:36,286,847...36,286,907
Ensembl chr22:36,286,847...36,286,907 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP
ISS
EXP
ISO
IEP 		DNA:missense mutation:exon:p.R702H(human)
ClinVar Annotator: match by term: MYH9-related disorder | ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
ClinVar Annotator: match by term: Sebastian platelet syndrome
OMIM:155100
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.R702C(mouse)
protein:increased expression:neutrophil:
DNA:mutation:exon:p.E1841K(human)
DNA:missense mutations:exons:multiple 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:9536098 More... RGD:6902926, RGD:11533924, RGD:11532766, RGD:11532766, RGD:6903235 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G TUBB1 tubulin beta 1 class VI IAGP ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ClinVar PMID:25741868 NCBI chr20:59,016,438...59,026,654
Ensembl chr20:59,019,429...59,026,654 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFG2B AFG2 AAA ATPase homolog B IAGP ClinVar Annotator: match by term: SPATA5L1-associated disorder
ClinVar Annotator: match by term: Neurodevelopmental disorder with hearing loss and spasticity | ClinVar Annotator: match by term: SPATA5L1-associated disorder 		OMIM
ClinVar		 PMID:25741868 PMID:26138355 PMID:28492532 PMID:34626583 NCBI chr15:45,402,336...45,421,415
Ensembl chr15:45,402,336...45,421,415 		JBrowse link
G LOC130056997 ATAC-STARR-seq lymphoblastoid silent region 6407 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with hearing loss and spasticity ClinVar PMID:34626583 NCBI chr15:45,402,549...45,402,628 JBrowse link
G LOC130056998 ATAC-STARR-seq lymphoblastoid silent region 6408 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with hearing loss and spasticity ClinVar PMID:34626583 NCBI chr15:45,403,019...45,403,168 JBrowse link
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAD1 adenosine deaminase domain containing 1 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 4:122,379,011...122,429,784
Ensembl chr 4:122,378,966...122,429,802 		JBrowse link
G AFG2A AFG2 AAA ATPase homolog A IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25640679 PMID:25741868 More... NCBI chr 4:122,923,078...123,319,433
Ensembl chr 4:122,923,070...123,319,433 		JBrowse link
G ANXA5 annexin A5 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 4:121,667,946...121,696,980
Ensembl chr 4:121,667,946...121,696,995 		JBrowse link
G BBS12 Bardet-Biedl syndrome 12 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:26299366 PMID:28492532 NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942 		JBrowse link
G BBS7 Bardet-Biedl syndrome 7 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487 		JBrowse link
G BLTP1 bridge-like lipid transfer protein family member 1 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 4:122,152,331...122,362,752
Ensembl chr 4:122,152,331...122,364,167 		JBrowse link
G CCNA2 cyclin A2 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 4:121,816,444...121,823,883
Ensembl chr 4:121,816,444...121,823,883 		JBrowse link
G EXOSC9 exosome component 9 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 4:121,801,323...121,817,021
Ensembl chr 4:121,801,318...121,817,021 		JBrowse link
G FGF2 fibroblast growth factor 2 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:26299366 PMID:28492532 NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236 		JBrowse link
G IL2 interleukin 2 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725 		JBrowse link
G IL21 interleukin 21 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066 		JBrowse link
G NDNF neuron derived neurotrophic factor IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 4:121,035,613...121,072,535
Ensembl chr 4:121,035,613...121,073,021 		JBrowse link
G NUDT6 nudix hydrolase 6 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:26299366 PMID:28492532 NCBI chr 4:122,892,577...122,922,968
Ensembl chr 4:122,888,697...122,922,968 		JBrowse link
G PRDM5 PR/SET domain 5 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 4:120,684,291...120,922,726
Ensembl chr 4:120,684,919...120,922,870 		JBrowse link
G QRFPR pyroglutamylated RFamide peptide receptor IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 4:121,328,642...121,381,018
Ensembl chr 4:121,328,642...121,381,059 		JBrowse link
G SMIM43 small integral membrane protein 43 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 4:121,758,930...121,765,433
Ensembl chr 4:121,758,881...121,765,427 		JBrowse link
G SPRY1 sprouty RTK signaling antagonist 1 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 4:123,396,795...123,403,760
Ensembl chr 4:123,396,795...123,403,760 		JBrowse link
G TNIP3 TNFAIP3 interacting protein 3 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 4:121,131,408...121,227,483
Ensembl chr 4:121,131,408...121,227,466 		JBrowse link
G TRPC3 transient receptor potential cation channel subfamily C member 3 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 4:121,874,481...121,952,060
Ensembl chr 4:121,874,481...121,952,060 		JBrowse link
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NRDE2 NRDE-2, necessary for RNA interference, domain containing IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss ClinVar PMID:35861243 NCBI chr14:90,267,860...90,331,941
Ensembl chr14:90,267,860...90,331,969 		JBrowse link
G PSMC1 proteasome 26S subunit, ATPase 1 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss ClinVar
OMIM		 PMID:35861243 NCBI chr14:90,256,553...90,275,429
Ensembl chr14:90,256,527...90,275,429 		JBrowse link
Noninsulin-Dependent Diabetes Mellitus with Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-TE mitochondrially encoded tRNA-Glu (GAA/G) IAGP ClinVar Annotator: match by term: Diabetes-deafness syndrome maternally transmitted
ClinVar Annotator: match by term: Diabetes mellitus type II with deafness 		ClinVar PMID:4114165 PMID:7726154 PMID:7726155 PMID:9353617 PMID:10392369 More... NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742 		JBrowse link
G MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP ClinVar Annotator: match by term: Diabetes-deafness syndrome maternally transmitted ClinVar PMID:9571188 PMID:12504210 PMID:31965079 NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diabetes mellitus type II with deafness 		CTD
ClinVar		 PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 More... NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TL2 mitochondrially encoded tRNA-Leu (CUN) 2 IAGP ClinVar Annotator: match by term: Diabetes-deafness syndrome maternally transmitted ClinVar PMID:25741868 PMID:31965079 NCBI chr MT:12,266...12,336
Ensembl chr MT:12,266...12,336 		JBrowse link
nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG1 actin gamma 1 IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:13680526 PMID:19477959 PMID:30311386 NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847 		JBrowse link
G AL049830.3 novel transcript, antisense to COCH IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:9931344 PMID:10400989 PMID:11332404 PMID:14512963 PMID:16151338 More... NCBI chr14:30,876,179...30,889,808
Ensembl chr14:30,876,179...30,889,808 		JBrowse link
G ALG10B ALG10 alpha-1,2-glucosyltransferase B ISS MouseDO NCBI chr12:38,316,687...38,329,721
Ensembl chr12:38,316,762...38,329,721 		JBrowse link
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness
ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness 		ClinVar PMID:15660226 PMID:16679490 PMID:17850630 PMID:18429043 PMID:19683999 More... NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CDH23-AS1 CDH23 antisense RNA 1 IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:24033266 PMID:24416283 PMID:28492532 PMID:30718709 NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873 		JBrowse link
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:25589040 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29703829 More... NCBI chr19:44,699,151...44,710,718
Ensembl chr19:44,699,151...44,710,718 		JBrowse link
G CEACAM16-AS1 CEACAM16, CEACAM19 and PVR antisense RNA 1 IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:25589040 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29703829 More... NCBI chr19:44,699,038...44,725,184
Ensembl chr19:44,608,568...44,725,315 		JBrowse link
G CGN cingulin IAGP ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:25741868 NCBI chr 1:151,510,170...151,538,692
Ensembl chr 1:151,510,510...151,538,692 		JBrowse link
G CLDN9 claudin 9 IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:25741868 PMID:34265170 NCBI chr16:3,012,923...3,014,505
Ensembl chr16:3,012,923...3,014,505 		JBrowse link
G COCH cochlin IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:9931344 PMID:10400989 PMID:11332404 PMID:14512963 PMID:16151338 More... NCBI chr14:30,874,559...30,895,615
Ensembl chr14:30,874,514...30,895,065 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:25633957 PMID:28492532 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:28492532 PMID:30311386 NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545 		JBrowse link
G CRYL1 crystallin lambda 1 IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:11807148 PMID:12917317 PMID:14571368 PMID:14681039 PMID:15994881 More... NCBI chr13:20,403,669...20,525,857
Ensembl chr13:20,403,666...20,525,873 		JBrowse link
G DCDC2 doublecortin domain containing 2 IAGP ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:16244493 PMID:25601850 NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059 		JBrowse link
G EYA4 EYA transcriptional coactivator and phosphatase 4 IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:30311386 NCBI chr 6:133,240,593...133,532,128
Ensembl chr 6:133,240,514...133,532,128 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness
ClinVar Annotator: match by term: Non-syndromic genetic deafness
ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness
ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic Deafness 		ClinVar PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB3 gap junction protein beta 3 IAGP ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369 		JBrowse link
G GJB6 gap junction protein beta 6 IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness
ClinVar Annotator: match by term: Nonsyndromic Deafness 		ClinVar PMID:11807148 PMID:12917317 PMID:14571368 PMID:14681039 PMID:15994881 More... NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365 		JBrowse link
G GSDME gasdermin E IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:7427029 PMID:15173223 PMID:17427029 PMID:24033266 PMID:28492532 More... NCBI chr 7:24,698,355...24,795,539
Ensembl chr 7:24,698,355...24,757,940 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr 3:121,987,323...122,061,655
Ensembl chr 3:121,987,323...122,022,247 		JBrowse link
G KARS1 lysyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:21181198 PMID:23768514 PMID:24824130 PMID:25741868 NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		JBrowse link
G KCNQ4 potassium voltage-gated channel subfamily Q member 4 IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:8035838 PMID:10025409 PMID:10369879 PMID:18786918 PMID:20832469 More... NCBI chr 1:40,783,787...40,840,452
Ensembl chr 1:40,783,787...40,840,452 		JBrowse link
G KLC2 kinesin light chain 2 ISS MouseDO NCBI chr11:66,243,938...66,267,860
Ensembl chr11:66,257,294...66,267,860 		JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness
ClinVar Annotator: match by term: Non-syndromic genetic deafness 		ClinVar PMID:23541342 PMID:28492532 PMID:30311386 PMID:30737337 NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726 		JBrowse link
G LARS2-AS1 LARS2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:23541342 PMID:28492532 PMID:30311386 PMID:30737337 NCBI chr 3:45,482,695...45,509,545
Ensembl chr 3:45,483,974...45,509,545 		JBrowse link
G LHFPL5 LHFPL tetraspan subfamily member 5 IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr 6:35,805,352...35,824,070
Ensembl chr 6:35,797,206...35,845,397 		JBrowse link
G LOC112840921 BRD4-independent group 4 enhancer GRCh37_chr2:26685720-26686919 IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:20224275 PMID:20301429 PMID:21557232 PMID:24814232 PMID:25326637 More... NCBI chr 2:26,462,852...26,464,051 JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:19732867 PMID:21465660 PMID:22975204 PMID:23226338 PMID:24033266 More... NCBI chr18:46,476,961...46,657,220
Ensembl chr18:46,476,972...46,657,220 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive ClinVar PMID:25941349 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377 		JBrowse link
G MITF melanocyte inducing transcription factor IAGP ClinVar Annotator: match by term: Nonsyndromic Deafness
ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness 		ClinVar PMID:8659547 PMID:20127975 PMID:25741868 PMID:28492532 PMID:28690485 More... NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336 		JBrowse link
G MPDZ multiple PDZ domain crumbs cell polarity complex component IAGP ClinVar Annotator: match by term: Nonsyndromic hearing impairment ClinVar PMID:28492532 NCBI chr 9:13,105,707...13,279,692
Ensembl chr 9:13,105,706...13,279,692 		JBrowse link
G MSX1 msh homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27356075 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936 		JBrowse link
G MYO15A myosin XVA IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness
ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness
ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness 		ClinVar PMID:7704031 PMID:9603736 PMID:11735029 PMID:17546645 PMID:19274735 More... NCBI chr17:18,108,756...18,179,800
Ensembl chr17:18,108,756...18,179,802 		JBrowse link
G MYO3A myosin IIIA IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness
ClinVar Annotator: match by term: Non-syndromic genetic deafness 		ClinVar PMID:25741868 PMID:29880844 PMID:34788109 NCBI chr10:25,934,229...26,212,532
Ensembl chr10:25,934,229...26,212,532 		JBrowse link
G MYO6 myosin VI IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness
ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness 		ClinVar PMID:12687499 PMID:18348273 PMID:23767834 PMID:24033266 PMID:25080041 More... NCBI chr 6:75,749,239...75,919,537
Ensembl chr 6:75,749,201...75,919,537 		JBrowse link
G MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness
ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness 		ClinVar PMID:8900236 PMID:9382091 PMID:10094549 PMID:10930322 PMID:15028842 More... NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G OTOF otoferlin IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness
ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness 		ClinVar PMID:8789454 PMID:10192385 PMID:10903124 PMID:12114484 PMID:12127154 More... NCBI chr 2:26,457,203...26,558,756
Ensembl chr 2:26,457,203...26,558,756 		JBrowse link
G OTOG otogelin IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:24033266 NCBI chr11:17,547,259...17,646,044
Ensembl chr11:17,547,259...17,647,150 		JBrowse link
G OTOGL otogelin like IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr12:80,099,537...80,380,880
Ensembl chr12:80,099,537...80,380,880 		JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:25741868 PMID:28281779 PMID:28492532 NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942 		JBrowse link
G PDZD7 PDZ domain containing 7 IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 PMID:30311386 NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295 		JBrowse link
G POU3F4 POU class 3 homeobox 4 IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:24033266 PMID:33976695 NCBI chr  X:83,508,290...83,512,127
Ensembl chr  X:83,508,290...83,512,127 		JBrowse link
G PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 ISS MouseDO NCBI chr 5:103,120,301...103,212,799
Ensembl chr 5:103,120,149...103,212,799 		JBrowse link
G RDX radixin IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr11:110,174,922...110,296,614
Ensembl chr11:109,864,295...110,296,712 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:15355436 PMID:16570074 PMID:19017801 PMID:19509082 PMID:21045265 More... NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809 		JBrowse link
G STRC stereocilin IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:22147502 PMID:24033266 PMID:25741868 PMID:26969326 PMID:29425068 More... NCBI chr15:43,599,563...43,618,800
Ensembl chr15:43,599,563...43,618,800 		JBrowse link
G SYNE4 spectrin repeat containing nuclear envelope family member 4 IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:23348741 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28958982 NCBI chr19:36,003,307...36,008,813
Ensembl chr19:36,003,307...36,008,813 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP DNA:mutations:cds:c.457G>A(p.E53K),c.641G>A(p.R214H),c.1316delT(p.V439Vfs32)(human) RGD PMID:26371875 RGD:11098120 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671 		JBrowse link
G TBCEL-TECTA TBCEL-TECTA readthrough IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness
ClinVar Annotator: match by term: Non-syndromic genetic deafness
ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness 		ClinVar PMID:11087000 PMID:12162770 PMID:12746400 PMID:16718611 PMID:17431902 More... NCBI chr11:121,024,102...121,191,490
Ensembl chr11:121,024,125...121,113,108 		JBrowse link
G TECTA tectorin alpha IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness
ClinVar Annotator: match by term: Non-syndromic genetic deafness
ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness 		ClinVar PMID:11087000 PMID:12162770 PMID:12746400 PMID:16718611 PMID:17431902 More... NCBI chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490 		JBrowse link
G TGFA transforming growth factor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:27356075 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193 		JBrowse link
G TGFB3 transforming growth factor beta 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27356075 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TMC1 transmembrane channel like 1 IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:9536098 PMID:16134132 PMID:16287143 PMID:17576681 PMID:18616530 More... NCBI chr 9:72,521,608...72,838,297
Ensembl chr 9:72,521,608...72,838,297 		JBrowse link
G TMPRSS3 transmembrane serine protease 3 IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness
ClinVar Annotator: match by term: Non-syndromic genetic deafness 		ClinVar PMID:11907649 PMID:12920079 PMID:15447792 PMID:16021470 PMID:16283880 More... NCBI chr21:42,371,890...42,396,052
Ensembl chr21:42,371,887...42,396,091 		JBrowse link
G TRIOBP TRIO and F-actin binding protein IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness
ClinVar Annotator: match by term: Non-syndromic genetic deafness 		ClinVar PMID:16385458 PMID:24033266 PMID:25741868 NCBI chr22:37,697,048...37,776,556
Ensembl chr22:37,697,048...37,776,556 		JBrowse link
G USH2A usherin IAGP DNA:missense mutations, frameshift mutation, snp:cds, intron:multiple (human)
ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness 		ClinVar
RGD		 PMID:2525289 PMID:10729113 PMID:10909849 PMID:12525556 PMID:15823922 More... RGD:8548458 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP
ISS 		ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar
MouseDO		 PMID:16648378 PMID:17492394 PMID:18544103 PMID:20301750 PMID:21917145 More... NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
Nonsyndromic Deafness, Modifier 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G METTL13 methyltransferase 13, eEF1A N-terminus and K55 IAGP ClinVar Annotator: match by term: DFNM1 ClinVar
OMIM		 PMID:29408807 NCBI chr 1:171,781,660...171,797,716
Ensembl chr 1:171,781,660...171,814,023 		JBrowse link
Nonsyndromic Sensorineural Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment ClinVar PMID:18429043 PMID:21228398 PMID:21569298 PMID:22135276 PMID:22995991 More... NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G COCH cochlin IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr14:30,874,559...30,895,615
Ensembl chr14:30,874,514...30,895,065 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		JBrowse link
G EYA4 EYA transcriptional coactivator and phosphatase 4 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr 6:133,240,593...133,532,128
Ensembl chr 6:133,240,514...133,532,128 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP DNA:mutations:cds:c.30C>T,c.71T>G(human) RGD PMID:11741837 RGD:1578475 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP DNA:mutations:multiple:
ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant
DNA:missense mutations,deletion:cds:
DNA:misssense mutations,deletion:cds:
DNA:mutations:cds:c.35delG,p.W24X(human)
DNA:mutations:cds:c.235delC,p.Y136X,P.R143W(human) 		ClinVar
RGD		 PMID:10376574 PMID:11102979 PMID:11216656 PMID:11313763 PMID:11493200 More... RGD:7364796, RGD:7364892, RGD:7364888, RGD:7364883, RGD:7364823, RGD:7364817, RGD:7364812, RGD:7364803, RGD:7364798 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB3 gap junction protein beta 3 no_association IAGP DNA:missense mutations:cds:p.N166S, p.A194T (human)
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant
DNA:missense mutation, SNPs:exon:p.R32W (94C>T), C357C>T, 798C>T (human)
DNA:nonsense mutation, missense mutation:cds:p.A180X, p.Q183K (human) 		ClinVar
RGD		 PMID:19050930 PMID:15276679 PMID:9843210 RGD:7364900, RGD:12050154, RGD:1300214 NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369 		JBrowse link
G GJB6 gap junction protein beta 6 no_association IAGP DNA:mutations:multiple:
DNA:del::GJB6-D13S1854(human)
DNA:del:cds:del(GJB6-D13S1830) 		RGD PMID:23554706 PMID:21227513 PMID:22186156 PMID:23668481 PMID:20022641 RGD:7364803, RGD:7364892, RGD:7364891, RGD:7364817, RGD:7364812 NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365 		JBrowse link
G LOC112695089 Sharpr-MPRA regulatory region 2056 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr22:36,387,611...36,388,278 JBrowse link
G LOC126861538 BRD4-independent group 4 enhancer GRCh37_chr12:57440635-57441834 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 NCBI chr12:57,046,851...57,048,050 JBrowse link
G LOC127814297 RBM27-POU4F3 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:28492532 NCBI chr 5:146,203,605...146,341,728 JBrowse link
G LOC129996737 ATAC-STARR-seq lymphoblastoid silent region 17342 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr 6:75,749,046...75,749,215 JBrowse link
G LOC130055442 ATAC-STARR-seq lymphoblastoid silent region 5649 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr14:30,874,121...30,874,640 JBrowse link
G LOC130055766 ATAC-STARR-seq lymphoblastoid silent region 5813 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr14:60,649,394...60,649,633 JBrowse link
G MYH14 myosin heavy chain 14 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:28492532 NCBI chr19:50,203,622...50,310,540
Ensembl chr19:50,188,186...50,310,542 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP DNA:mutation:cds:p.R705H(human)
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant 		ClinVar
RGD		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:11023810 RGD:11533925 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G MYO1A myosin IA IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 NCBI chr12:57,028,517...57,051,198
Ensembl chr12:57,028,517...57,051,198 		JBrowse link
G MYO3A myosin IIIA IAGP ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss ClinVar PMID:25741868 PMID:29880844 PMID:34788109 NCBI chr10:25,934,229...26,212,532
Ensembl chr10:25,934,229...26,212,532 		JBrowse link
G MYO6 myosin VI IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:75,749,239...75,919,537
Ensembl chr 6:75,749,201...75,919,537 		JBrowse link
G MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G OTOA otoancorin IAGP ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss ClinVar PMID:25741868 NCBI chr16:21,663,968...21,760,729
Ensembl chr16:21,663,968...21,761,935 		JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment ClinVar PMID:23804846 PMID:25741868 PMID:26226137 PMID:28492532 PMID:30029624 NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942 		JBrowse link
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP DNA:missense mutation:cds:c.1424A>G(p.E475G)(human) RGD PMID:23084290 RGD:11554169 NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863 		JBrowse link
G POU4F3 POU class 4 homeobox 3 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:28492532 NCBI chr 5:146,338,839...146,341,728
Ensembl chr 5:146,338,839...146,341,728 		JBrowse link
G SIX1 SIX homeobox 1 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259 		JBrowse link
G SLC17A8 solute carrier family 17 member 8 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:25741868 NCBI chr12:100,357,074...100,422,055
Ensembl chr12:100,357,074...100,422,055 		JBrowse link
G SLC26A5 solute carrier family 26 member 5 IAGP DNA:snp:intron:IVS2-2A>G (human) RGD PMID:23554706 RGD:7364803 NCBI chr 7:103,352,730...103,446,207
Ensembl chr 7:103,352,730...103,446,207 		JBrowse link
G STRC stereocilin IAGP ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss ClinVar PMID:25741868 NCBI chr15:43,599,563...43,618,800
Ensembl chr15:43,599,563...43,618,800 		JBrowse link
G TARID TCF21 antisense RNA inducing promoter demethylation IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr 6:133,502,252...133,889,006
Ensembl chr 6:133,485,013...133,953,083 		JBrowse link
G TBCEL-TECTA TBCEL-TECTA readthrough IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:25741868 NCBI chr11:121,024,102...121,191,490
Ensembl chr11:121,024,125...121,113,108 		JBrowse link
G TECTA tectorin alpha IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:25741868 NCBI chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490 		JBrowse link
G TJP2 tight junction protein 2 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 9:69,121,264...69,255,208
Ensembl chr 9:69,121,264...69,274,615 		JBrowse link
G TMC1 transmembrane channel like 1 IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr 9:72,521,608...72,838,297
Ensembl chr 9:72,521,608...72,838,297 		JBrowse link
G TMTC2 transmembrane O-mannosyltransferase targeting cadherins 2 susceptibility IAGP DNA:SNP:exon:rs35725509(human) RGD PMID:27311106 RGD:11252147 NCBI chr12:82,686,906...83,134,866
Ensembl chr12:82,686,880...83,134,870 		JBrowse link
G USH1G USH1 protein network component sans IAGP ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment ClinVar PMID:28492532 PMID:30029624 NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:12955714 PMID:17603484 PMID:18060660 PMID:20301750 PMID:20738327 More... NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
ocular albinism with sensorineural deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MITF melanocyte inducing transcription factor ISS MouseDO NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336 		JBrowse link
G PAX3 paired box 3 IAGP ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G TYR tyrosinase IAGP ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:1429711 PMID:1642278 PMID:1676041 PMID:1899321 PMID:1903591 More... NCBI chr11:89,177,875...89,295,759
Ensembl chr11:89,177,875...89,295,759 		JBrowse link
Odontochondrodysplasia 2 with Hearing Loss and Diabetes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIA3 MIA SH3 domain ER export factor 3 IAGP ClinVar Annotator: match by term: Odontochondrodysplasia 2 with hearing loss and diabetes OMIM
ClinVar		 PMID:25741868 NCBI chr 1:222,618,097...222,668,007
Ensembl chr 1:222,618,097...222,668,007 		JBrowse link
Osteootohepatoenteric Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130057954 ATAC-STARR-seq lymphoblastoid silent region 6833 IAGP ClinVar Annotator: match by term: UNC45A-related condition
ClinVar Annotator: match by term: Osteootohepatoenteric syndrome 		ClinVar PMID:25741868 PMID:28492532 NCBI chr15:90,935,101...90,935,500 JBrowse link
G RCCD1-AS1 RCCD1 and UNC45A antisense RNA 1 IAGP ClinVar Annotator: match by term: Osteootohepatoenteric syndrome
ClinVar Annotator: match by term: UNC45A-related condition 		ClinVar PMID:25741868 PMID:28492532 PMID:29429573 PMID:35575086 NCBI chr15:90,952,238...90,954,493 JBrowse link
G UNC45A unc-45 myosin chaperone A IAGP ClinVar Annotator: match by term: Osteootohepatoenteric syndrome
ClinVar Annotator: match by term: Osteootohepatoenteric syndrome | ClinVar Annotator: match by term: UNC45A-related condition 		OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29429573 PMID:31231135 PMID:35575086 NCBI chr15:90,930,180...90,954,093
Ensembl chr15:90,930,180...90,954,093 		JBrowse link
otospondylomegaepiphyseal dysplasia, autosomal recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A2 collagen type XI alpha 2 chain IAGP
ISS
EXP 		DNA:missense mutation:exon:p.G175R (human)
ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive
ClinVar Annotator: match by term: Insley-Astley syndrome | ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive
OMIM:215150
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:7859284 PMID:9188673 PMID:9536098 PMID:10677296 PMID:15558753 More... RGD:12904710 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		JBrowse link
G COL2A1 collagen type II alpha 1 chain EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive 		CTD
ClinVar		 PMID:16189708 PMID:25326635 PMID:25741868 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
palmoplantar keratoderma-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSG1 desmoglein 1 IAGP ClinVar Annotator: match by term: Hereditary palmoplantar keratoderma ClinVar PMID:25741868 NCBI chr18:31,318,160...31,359,246
Ensembl chr18:31,318,160...31,359,246 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP
EXP 		DNA:missense mutation:cds:p.S183F(human)
ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness
ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome
ClinVar Annotator: match by term: Keratoderma palmoplantar, with deafness
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.G130V(human)
DNA:missense mutation:cds:c.224G>A (p.R75Q)(human)
DNA:mutation:cds:p.H73R(human) 		ClinVar
CTD
OMIM
RGD		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... RGD:7364814, RGD:11097846, RGD:11568636, RGD:7364819 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome ClinVar PMID:127819 PMID:6213205 PMID:7219534 PMID:7987332 PMID:8019558 More... NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome ClinVar PMID:127819 PMID:6213205 PMID:7219534 PMID:7987332 PMID:8019558 More... NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
Paragangliomas with Sensorineural Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126861339 BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234 IAGP ClinVar Annotator: match by term: Paragangliomas with sensorineural hearing loss ClinVar PMID:10657297 PMID:11156372 PMID:11391796 PMID:11526495 PMID:12007193 More... NCBI chr11:112,086,311...112,087,510 JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP ClinVar Annotator: match by term: Paragangliomas with sensorineural hearing loss ClinVar PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 More... NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
Pendred syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN9 claudin 9 IAGP ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 PMID:35802133 PMID:36633841 NCBI chr16:3,012,923...3,014,505
Ensembl chr16:3,012,923...3,014,505 		JBrowse link
G DIAPH1 diaphanous related formin 1 IAGP ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		JBrowse link
G FOXI1 forkhead box I1 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Pendred syndrome
ClinVar Annotator: match by term: Goiter-deafness syndrome
ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome
OMIM:274600
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD		 PMID:17503324 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 5:170,105,897...170,109,737
Ensembl chr 5:170,105,897...170,109,734 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome 		CTD
ClinVar		 PMID:19289823 PMID:20651251 PMID:20678478 PMID:20807765 PMID:21088294 More... NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483 		JBrowse link
G LOC123956210 Sharpr-MPRA regulatory region 3291 IAGP ClinVar Annotator: match by term: Pendred syndrome
ClinVar Annotator: match by term: SLC26A4-related condition 		ClinVar PMID:9618166 PMID:9618167 PMID:10190331 PMID:10902795 PMID:11405873 More... NCBI chr 7:107,709,864...107,710,158 JBrowse link
G MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:24033266 PMID:28492532 PMID:30311386 PMID:30718709 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G OTOF otoferlin IAGP ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chr 2:26,457,203...26,558,756
Ensembl chr 2:26,457,203...26,558,756 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO
IAGP
ISS
EXP 		ClinVar Annotator: match by term: Pendred syndrome
ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome
ClinVar Annotator: match by term: Pendred's syndrome
ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome | ClinVar Annotator: match by term: Pendred's syndrome
ClinVar Annotator: match by term: SLC26A4-related condition
ClinVar Annotator: match by term: Pendred syndrome | ClinVar Annotator: match by term: SLC26A4-related condition
OMIM:274600
ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human) 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More... RGD:7411554, RGD:7421514, RGD:7421510 NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809 		JBrowse link
G SLC26A4-AS1 SLC26A4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Pendred syndrome
ClinVar Annotator: match by term: Goiter-deafness syndrome
ClinVar Annotator: match by term: SLC26A4-related condition 		ClinVar PMID:9536098 PMID:11317356 PMID:11748854 PMID:11919333 PMID:12642503 More... NCBI chr 7:107,656,516...107,661,798
Ensembl chr 7:107,650,260...107,662,204 		JBrowse link
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH14 myosin heavy chain 14 IAGP ClinVar Annotator: match by term: Peripheral neuropathy, myopathy, hoarseness, and hearing loss ClinVar
OMIM		 PMID:15015131 PMID:21480433 PMID:23806086 PMID:24033266 PMID:24088041 More... NCBI chr19:50,203,622...50,310,540
Ensembl chr19:50,188,186...50,310,542 		JBrowse link
Perrault syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit ISS
IAGP 		OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300
ClinVar Annotator: match by term: Perrault syndrome 		MouseDO
ClinVar		 PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24824130 NCBI chr19:6,361,531...6,370,242
Ensembl chr19:6,361,427...6,370,242 		JBrowse link
G ERAL1 Era like 12S mitochondrial rRNA chaperone 1 IAGP ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:28449065 NCBI chr17:28,855,016...28,861,061
Ensembl chr17:28,855,010...28,861,061 		JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:517579 PMID:21464306 PMID:25741868 PMID:28492532 PMID:31827252 NCBI chr 5:140,691,455...140,699,305
Ensembl chr 5:140,691,430...140,699,305 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 IAGP ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 More... NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199 		JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726 		JBrowse link
G LARS2-AS1 LARS2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chr 3:45,482,695...45,509,545
Ensembl chr 3:45,483,974...45,509,545 		JBrowse link
G LOC126862526 BRD4-independent group 4 enhancer GRCh37_chr17:27185111-27186310 IAGP ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:28449065 NCBI chr17:28,858,093...28,859,292 JBrowse link
G LOC129994460 ATAC-STARR-seq lymphoblastoid active region 22989 IAGP ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 PMID:16385454 More... NCBI chr 5:119,452,598...119,452,647 JBrowse link
G LOC130063288 ATAC-STARR-seq lymphoblastoid silent region 9948 IAGP ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:23541340 PMID:24824130 NCBI chr19:6,361,778...6,362,007 JBrowse link
G TWNK twinkle mtDNA helicase IAGP ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:26970254 More... NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
Perrault Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:30311386 NCBI chr19:6,361,531...6,370,242
Ensembl chr19:6,361,427...6,370,242 		JBrowse link
G DAP3 death associated protein 3 IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:39701103 NCBI chr 1:155,687,948...155,739,010
Ensembl chr 1:155,687,960...155,739,010 		JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:25741868 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FSHR follicle stimulating hormone receptor IAGP ClinVar Annotator: match by term: Gonadal dysgenesis XX type deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527 		JBrowse link
G GON4L gon-4 like IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 1:155,745,112...155,859,431
Ensembl chr 1:155,749,659...155,859,400 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 IAGP
EXP 		ClinVar Annotator: match by term: HSD17B4-related condition | ClinVar Annotator: match by term: Perrault syndrome 1
ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 More... NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199 		JBrowse link
G LOC129931572 ATAC-STARR-seq lymphoblastoid active region 1818 IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 1:155,689,190...155,689,239 JBrowse link
G LOC129931573 ATAC-STARR-seq lymphoblastoid active region 1819 IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 1:155,745,310...155,745,509 JBrowse link
G LOC129994460 ATAC-STARR-seq lymphoblastoid active region 22989 IAGP ClinVar Annotator: match by term: Perrault syndrome 1
ClinVar Annotator: match by term: HSD17B4-related condition 		ClinVar PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 PMID:16385454 More... NCBI chr 5:119,452,598...119,452,647 JBrowse link
G MRPL49 mitochondrial ribosomal protein L49 IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr11:65,122,183...65,127,371
Ensembl chr11:65,122,183...65,127,371 		JBrowse link
G PRORP protein only RNase P catalytic subunit IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:34715011 PMID:37558808 NCBI chr14:35,121,839...35,277,622
Ensembl chr14:35,121,846...35,277,622 		JBrowse link
G PRORP-PSMA6 PRORP-PSMA6 readthrough IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:34715011 PMID:37558808 NCBI chr14:35,121,839...35,317,471 JBrowse link
G SCARNA26A small Cajal body-specific RNA 26A IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 1:155,679,108...155,679,255 JBrowse link
G YY1AP1 YY1 associated protein 1 IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 1:155,659,442...155,688,996
Ensembl chr 1:155,659,446...155,689,334 		JBrowse link
Perrault syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HARS2 histidyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Perrault syndrome 2
ClinVar Annotator: match by term: HARS2-related condition
ClinVar Annotator: match by term: HARS2-related condition | ClinVar Annotator: match by term: Perrault syndrome 2 		ClinVar
OMIM		 PMID:517579 PMID:21464306 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 5:140,691,455...140,699,305
Ensembl chr 5:140,691,430...140,699,305 		JBrowse link
Perrault Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit IAGP ClinVar Annotator: match by term: Perrault syndrome 3
ClinVar Annotator: match by term: CLPP-related condition 		ClinVar
OMIM		 PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:23851121 More... NCBI chr19:6,361,531...6,370,242
Ensembl chr19:6,361,427...6,370,242 		JBrowse link
G LOC130063288 ATAC-STARR-seq lymphoblastoid silent region 9948 IAGP ClinVar Annotator: match by term: Perrault syndrome 3
ClinVar Annotator: match by term: CLPP-related condition 		ClinVar PMID:23541340 PMID:24824130 PMID:25741868 PMID:28492532 NCBI chr19:6,361,778...6,362,007 JBrowse link
Perrault Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARS2 leucyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Perrault syndrome 4 ClinVar
OMIM		 PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726 		JBrowse link
G LARS2-AS1 LARS2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Perrault syndrome 4 ClinVar PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr 3:45,482,695...45,509,545
Ensembl chr 3:45,483,974...45,509,545 		JBrowse link
Perrault Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TWNK twinkle mtDNA helicase IAGP ClinVar Annotator: match by term: Perrault syndrome 5 OMIM
ClinVar		 PMID:18593709 PMID:25355836 PMID:25741868 PMID:26467025 PMID:27551684 More... NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
Perrault syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERAL1 Era like 12S mitochondrial rRNA chaperone 1 IAGP ClinVar Annotator: match by term: Perrault syndrome 6 ClinVar
OMIM		 PMID:25741868 PMID:28449065 NCBI chr17:28,855,016...28,861,061
Ensembl chr17:28,855,010...28,861,061 		JBrowse link
G LOC126862526 BRD4-independent group 4 enhancer GRCh37_chr17:27185111-27186310 IAGP ClinVar Annotator: match by term: Perrault syndrome 6 ClinVar PMID:25741868 PMID:28449065 NCBI chr17:28,858,093...28,859,292 JBrowse link
Perrault syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DAP3 death associated protein 3 IAGP ClinVar Annotator: match by term: PERRAULT SYNDROME 7 OMIM
ClinVar		 PMID:39701103 NCBI chr 1:155,687,948...155,739,010
Ensembl chr 1:155,687,960...155,739,010 		JBrowse link
Pigmentary Retinopathy and Sensorineural Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP ClinVar Annotator: match by term: Pigmentary retinopathy and sensorineural deafness ClinVar PMID:12682337 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
Presbycusis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG1 actin gamma 1 IEA GAD PMID:15118671 RGD:1331525 NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847 		JBrowse link
G AQP4 aquaporin 4 severity ISO RGD PMID:19070604 RGD:8695953 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771 		JBrowse link
G BDNF brain derived neurotrophic factor ISO mRNA:decreased expression:cochlea RGD PMID:17168119 RGD:8655551 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058 		JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D ISO mRNA, protein:decreased expression:cochlea RGD PMID:23470431 RGD:10045570 NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733 		JBrowse link
G CAT catalase ISO RGD PMID:11678164 RGD:8655636 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CDH23 cadherin related 23 no_association ISO
IAGP 		DNA:SNP:intron:g.72996763C>T (rs7087735) (human) RGD PMID:12910270 PMID:22581638 RGD:737781, RGD:8662287 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G EDN1 endothelin 1 susceptibility IAGP DNA:missense mutation:cds:p.L198N (rs5370) (human) RGD PMID:19358249 RGD:8661662 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility
no_association 		IAGP DNA:deletion:cds (human) RGD PMID:17513527 PMID:15891640 RGD:7495801, RGD:7495803 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G GSTT1 glutathione S-transferase theta 1 susceptibility
no_association 		IAGP DNA:deletion:cds (human) RGD PMID:22965834 PMID:15891640 RGD:7794838, RGD:7495803
G HSPB1 heat shock protein family B (small) member 1 ISO RGD PMID:24587312 RGD:10402574 NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,305,813 		JBrowse link
G IL1R2 interleukin 1 receptor type 2 ISO RGD PMID:22652460 RGD:8662870 NCBI chr 2:101,991,960...102,028,544
Ensembl chr 2:101,991,960...102,028,544 		JBrowse link
G NAT2 N-acetyltransferase 2 susceptibility IAGP DNA:polymorphism: : RGD PMID:16369173 RGD:8552649 NCBI chr 8:18,386,301...18,401,218
Ensembl chr 8:18,391,282...18,401,218 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO RGD PMID:21664445 RGD:8694161 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POTEI POTE ankyrin domain family member I IEA GAD PMID:15118671 RGD:1331525 NCBI chr 2:130,459,455...130,509,707
Ensembl chr 2:130,459,455...130,509,707 		JBrowse link
G SIRT3 sirtuin 3 ISO protein:decreased expression:auditory cortex: RGD PMID:24505357 RGD:8158103 NCBI chr11:215,030...236,931
Ensembl chr11:215,030...236,931 		JBrowse link
G SLC26A5 solute carrier family 26 member 5 ISO protein:altered expression:cochlear outer hair cell (rat) RGD PMID:19111601 RGD:9585690 NCBI chr 7:103,352,730...103,446,207
Ensembl chr 7:103,352,730...103,446,207 		JBrowse link
G SOD1 superoxide dismutase 1 severity ISO mRNA:increased expression:cochlea (mouse) RGD PMID:11678164 PMID:10464373 RGD:8655636, RGD:8655665 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G SOD2 superoxide dismutase 2 ISO protein:decreased expression,decreased activity:auditory cortex: RGD PMID:24505357 RGD:8158103 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP DNA:mutation:cds:c.533C>T (p.S178L)(human) RGD PMID:24729539 RGD:11537394 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671 		JBrowse link
G TYR tyrosinase treatment
onset 		ISO associated with Albinism; RGD PMID:19843244 PMID:19141317 RGD:8694324, RGD:8694327 NCBI chr11:89,177,875...89,295,759
Ensembl chr11:89,177,875...89,295,759 		JBrowse link
retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10orf105 chromosome 10 open reading frame 105 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824 		JBrowse link
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:12075507 PMID:16963483 PMID:18429043 PMID:19683999 PMID:21174530 More... NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CRB1 crumbs cell polarity complex component 1 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 More... NCBI chr 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537 		JBrowse link
G LOC130004038 ATAC-STARR-seq lymphoblastoid silent region 2466 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:25741868 NCBI chr10:71,773,420...71,773,749 JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:9792552 PMID:10090882 PMID:32906214 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942 		JBrowse link
G PSAP prosaposin IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G USH1C USH1 protein network component harmonin IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416 		JBrowse link
G USH1G USH1 protein network component sans IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:25741868 NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256 		JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
G USH2A-AS1 USH2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr 1:216,193,722...216,238,035
Ensembl chr 1:216,194,051...216,238,122 		JBrowse link
G VSIR V-set immunoregulatory receptor IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:25741868 NCBI chr10:71,747,556...71,773,520
Ensembl chr10:71,747,556...71,773,520 		JBrowse link
G WHRN whirlin IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:21569298 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,078...114,505,473 		JBrowse link
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP ClinVar Annotator: match by term: Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction OMIM
ClinVar		 PMID:8279480 PMID:17486094 PMID:21378381 PMID:24741716 PMID:25741868 More... NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
Sensorineural Deafness and Migraine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP ClinVar Annotator: match by term: Sensorineural deafness and migraine ClinVar PMID:11424923 PMID:20700462 PMID:21526175 PMID:25741868 PMID:26467025 More... NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400 		JBrowse link
Sensorineural Deafness with Hypertrophic Cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP ClinVar Annotator: match by term: Cardiomyopathy and Deafness ClinVar PMID:8651277 PMID:20301693 PMID:31965079 PMID:32906214 NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364 		JBrowse link
G MYO6 myosin VI IAGP ClinVar Annotator: match by term: Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome ClinVar PMID:15060111 PMID:18212818 PMID:18348273 PMID:24033266 PMID:28492532 NCBI chr 6:75,749,239...75,919,537
Ensembl chr 6:75,749,201...75,919,537 		JBrowse link
Sensorineural Deafness with Mild Renal Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSND barttin CLCNK type accessory subunit beta IAGP ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction ClinVar PMID:11687798 PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 More... NCBI chr 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172 		JBrowse link
sensorineural hearing loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:16685646 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G ADPRS ADP-ribosylserine hydrolase IAGP ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar NCBI chr 1:36,088,892...36,093,932
Ensembl chr 1:36,088,892...36,093,932 		JBrowse link
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:28492532 PMID:32219868 NCBI chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227 		JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25590979 PMID:25741868 PMID:28492532 PMID:28967629 PMID:31523922 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G AL049830.3 novel transcript, antisense to COCH IAGP ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:16261627 PMID:19461658 PMID:25780252 PMID:28492532 PMID:30311386 More... NCBI chr14:30,876,179...30,889,808
Ensembl chr14:30,876,179...30,889,808 		JBrowse link
G APOE apolipoprotein E susceptibility IAGP DNA:polymorphism:exon: RGD PMID:17454231 RGD:7771593 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G ATF6 activating transcription factor 6 IAGP ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:25741868 PMID:26029869 PMID:28028229 PMID:28492532 NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574 		JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr 1:116,373,244...116,404,774
Ensembl chr 1:116,372,668...116,410,261 		JBrowse link
G ATP1B1 ATPase Na+/K+ transporting subunit beta 1 ISO protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr 1:169,106,690...169,132,719
Ensembl chr 1:169,105,697...169,310,992 		JBrowse link
G BCAP31 B cell receptor associated protein 31 IAGP DNA:mutation, deletion:exon:p.Q33X (human) RGD PMID:24011989 RGD:7483567 NCBI chr  X:153,700,492...153,724,387
Ensembl chr  X:153,700,492...153,724,565 		JBrowse link
G BDNF brain derived neurotrophic factor ISO mRNA,protein:increased expression:inferior colliculus: RGD PMID:20598895 RGD:8655560 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058 		JBrowse link
G BRF1 BRF1 general transcription factor IIIB subunit IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589 		JBrowse link
G BSND barttin CLCNK type accessory subunit beta IAGP Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon RGD PMID:11687798 RGD:1600603 NCBI chr 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172 		JBrowse link
G CARMIL1 capping protein regulator and myosin 1 linker 1 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 6:25,279,374...25,620,530
Ensembl chr 6:25,279,078...25,620,530 		JBrowse link
G CAT catalase ISO RGD PMID:15109710 RGD:8547516 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CDC14A cell division cycle 14A IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 1:100,345,001...100,520,277
Ensembl chr 1:100,325,629...100,520,277 		JBrowse link
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:22899989 PMID:25741868 PMID:25963016 PMID:28492532 PMID:30303587 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CEP78 centrosomal protein 78 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 NCBI chr 9:78,236,075...78,279,690
Ensembl chr 9:78,236,062...78,279,690 		JBrowse link
G CLCN3 chloride voltage-gated channel 3 IAGP ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673 		JBrowse link
G CLCNKA chloride voltage-gated channel Ka IAGP Bartter syndrome type 4, OMIM:602522, C80W
ClinVar Annotator: match by term: Sensorineural hearing loss disorder 		ClinVar
RGD		 PMID:25741868 PMID:15044642 RGD:1300378 NCBI chr 1:16,022,036...16,034,050
Ensembl chr 1:16,018,875...16,034,050 		JBrowse link
G CLDN14 claudin 14 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr21:36,460,621...36,576,569
Ensembl chr21:36,460,621...36,576,569 		JBrowse link
G CLDN14-AS1 CLDN14 antisense RNA 1 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr21:36,430,325...36,498,526 JBrowse link
G COCH cochlin IAGP ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:16261627 PMID:19461658 PMID:25780252 PMID:28492532 PMID:30311386 More... NCBI chr14:30,874,559...30,895,615
Ensembl chr14:30,874,514...30,895,065 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:28492532 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP
EXP 		ClinVar Annotator: match by term: Sensorineural hearing loss disorder
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:16637051 PMID:25741868 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		JBrowse link
G COL2A1 collagen type II alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:16189708 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL9A1 collagen type IX alpha 1 chain EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sensorineural hearing loss disorder 		CTD
ClinVar		 PMID:16909383 PMID:25741868 NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:25741868 PMID:28492532 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159 		JBrowse link
G COX18 cytochrome c oxidase assembly factor COX18 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 4:73,052,362...73,069,759
Ensembl chr 4:73,052,362...73,069,755 		JBrowse link
G DBH dopamine beta-hydroxylase IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 9:133,636,363...133,659,329
Ensembl chr 9:133,636,363...133,659,329 		JBrowse link
G DBH-AS1 DBH antisense RNA 1 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 9:133,654,587...133,657,408
Ensembl chr 9:133,654,586...133,657,313 		JBrowse link
G DIAPH1 diaphanous related formin 1 susceptibility IAGP autosomal dominant nonsyndromic sensorineural deafness 1, OMIM:124900;DNA:splice-site mutation RGD PMID:9360932 RGD:1601058 NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		JBrowse link
G DPT dermatopontin IAGP ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr 1:168,695,468...168,729,206
Ensembl chr 1:168,695,468...168,729,206 		JBrowse link
G EDN3 endothelin 3 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr20:59,300,611...59,325,992
Ensembl chr20:59,300,443...59,325,992 		JBrowse link
G EDNRB endothelin receptor type B ISO DNA:mutation:cds: RGD PMID:21915282 RGD:6480217 NCBI chr13:77,895,487...77,975,527
Ensembl chr13:77,895,481...77,975,529 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO RGD PMID:25762674 RGD:11567237 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO associated with Cockayne Syndrome RGD PMID:25762674 RGD:11567237 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G ESPN espin IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 1:6,424,776...6,461,370
Ensembl chr 1:6,424,776...6,461,367 		JBrowse link
G EYA4 EYA transcriptional coactivator and phosphatase 4 IAGP DNA:deletion:introns, exon (human) RGD PMID:15735644 RGD:1598455 NCBI chr 6:133,240,593...133,532,128
Ensembl chr 6:133,240,514...133,532,128 		JBrowse link
G F2 coagulation factor II, thrombin no_association IAGP
IDA 		DNA:transition: :20210G>A (human)
associated with Stroke
DNA:transition: :20210G>A(human) 		RGD PMID:17334320 PMID:18636032 PMID:16572609 RGD:7387261, RGD:7387268, RGD:7387240 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 		JBrowse link
G F5 coagulation factor V no_association IAGP DNA:mutation
DNA:SNP: :1691G>A (human) 		RGD PMID:16015153 PMID:16572609 RGD:7387260, RGD:7387240 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G FADD Fas associated via death domain EXP CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chr11:70,203,296...70,207,390
Ensembl chr11:70,203,296...70,207,390 		JBrowse link
G FGF3 fibroblast growth factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:19461658 PMID:30311386 PMID:34652575 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FOXP4 forkhead box P4 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:41,546,381...41,602,384
Ensembl chr 6:41,546,381...41,602,384 		JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:28492532 NCBI chr 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981 		JBrowse link
G GABRR2 gamma-aminobutyric acid type A receptor subunit rho2 IAGP ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr 6:89,254,464...89,315,299
Ensembl chr 6:89,254,464...89,315,299 		JBrowse link
G GAS2 growth arrest specific 2 ISS MouseDO NCBI chr11:22,626,002...22,813,055
Ensembl chr11:22,625,509...22,813,001 		JBrowse link
G GATA3 GATA binding protein 3 IAGP HDR Syndrome/Barakat Syndrome, OMIM:146255 DNA:point_mutation, deletion, deletion:CDS:Arg277Ter, 49bpDELnt465-513, 12bpDELnt946-957 RGD PMID:10935639 RGD:1358706 NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198 		JBrowse link
G GCC2 GRIP and coiled-coil domain containing 2 IAGP ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr 2:108,449,206...108,509,415
Ensembl chr 2:108,449,107...108,509,415 		JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:32403198 NCBI chr 1:235,327,216...235,344,532
Ensembl chr 1:235,327,350...235,344,532 		JBrowse link
G GIPC3 GIPC PDZ domain containing family member 3 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:23510777 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32747562 More... NCBI chr19:3,585,478...3,593,541
Ensembl chr19:3,585,478...3,593,541 		JBrowse link
G GJB2 gap junction protein beta 2 ISO
IAGP
EXP 		protein:increased expression:cochlea:
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment
ClinVar Annotator: match by term: Sensorineural hearing loss disorder
ClinVar Annotator: match by term: Progressive sensorineural hearing impairment
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More... RGD:7349365 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB3 gap junction protein beta 3 EXP
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant, with peripheral neuropathy 		CTD
ClinVar		 PMID:11309368 PMID:12165562 PMID:15276679 PMID:19050930 PMID:19197336 More... NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369 		JBrowse link
G GJC3 gap junction protein gamma 3 ISO RGD PMID:16481432 RGD:1578421 NCBI chr 7:99,923,266...99,930,747
Ensembl chr 7:99,923,266...99,929,620 		JBrowse link
G GPSM2 G protein signaling modulator 2 IAGP DNA:nonsense mutation:exon:c.1684C>T(p.Q562X(human)
DNA:nonsense mutation:cds:p.R127X(human) 		RGD PMID:21348867 PMID:20602914 RGD:11552574, RGD:11552577 NCBI chr 1:108,876,985...108,934,545
Ensembl chr 1:108,875,350...108,934,545 		JBrowse link
G GRHL2 grainyhead like transcription factor 2 IAGP ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr 8:101,492,439...101,681,200
Ensembl chr 8:101,492,439...101,669,726 		JBrowse link
G GSDME gasdermin E IAGP DNA:deletion:intron
ClinVar Annotator: match by term: Sensorineural hearing loss disorder 		ClinVar
RGD		 PMID:25741868 PMID:9771715 RGD:1599770 NCBI chr 7:24,698,355...24,795,539
Ensembl chr 7:24,698,355...24,757,940 		JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 PMID:31827252 NCBI chr 5:140,691,455...140,699,305
Ensembl chr 5:140,691,430...140,699,305 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP associated with Behcet Syndrome; DNA:polymorphism:cds:HLA-B51 (human) RGD PMID:15855027 RGD:7364915 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphism: :DRB1*0301(human) RGD PMID:8712634 RGD:7365101 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IFNG interferon gamma IDA
IEP 		associated with Hearing Loss, Sensorineural;protein:increased expression:serum: RGD PMID:15937357 PMID:19684145 RGD:7987908, RGD:8142347 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IL2 interleukin 2 IDA RGD PMID:9693304 RGD:8662926 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 IAGP ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:21255762 PMID:25741868 PMID:28492532 NCBI chr 3:121,987,323...122,061,655
Ensembl chr 3:121,987,323...122,022,247 		JBrowse link
G IRX5 iroquois homeobox 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr16:54,930,865...54,934,485
Ensembl chr16:54,930,865...54,934,485 		JBrowse link
G ITGA2 integrin subunit alpha 2 IAGP DNA:snp:cds:c.807C>T (rs1126643) (human) RGD PMID:22948415 RGD:8686432 NCBI chr 5:52,989,352...53,094,779
Ensembl chr 5:52,989,340...53,094,779 		JBrowse link
G KARS1 lysyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Congenital sensorineural hearing impairment
ClinVar Annotator: match by term: Sensorineural hearing loss disorder 		ClinVar PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 PMID:28496994 More... NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483 		JBrowse link
G KCNQ4 potassium voltage-gated channel subfamily Q member 4 IAGP autosomal dominant non-syndromic sensorineural deafness 2, OMIM:600101 DNA:point_mutation:CDS:G827C, amino acid W276S
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment 		ClinVar
RGD		 PMID:19461658 PMID:27081546 PMID:30311386 PMID:34652575 PMID:10369879 RGD:1600303 NCBI chr 1:40,783,787...40,840,452
Ensembl chr 1:40,783,787...40,840,452 		JBrowse link
G KL klotho ISO RGD PMID:21167925 RGD:10403058 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		JBrowse link
G LARS1 leucyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:146,113,034...146,182,650
Ensembl chr 5:146,110,566...146,182,696 		JBrowse link
G LMX1A LIM homeobox transcription factor 1 alpha IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:29971487 NCBI chr 1:165,201,867...165,356,715
Ensembl chr 1:165,201,867...165,356,715 		JBrowse link
G LOC119407423 HARS1 and HARS2 bidirectional promoter region IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar NCBI chr 5:140,691,305...140,691,805 JBrowse link
G LOC126862402 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:75663368-75664567 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 PMID:28496994 PMID:30252186 PMID:33260297 More... NCBI chr16:75,629,470...75,630,669 JBrowse link
G LOC127814297 RBM27-POU4F3 IAGP ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:25741868 NCBI chr 5:146,203,605...146,341,728 JBrowse link
G LRP2 LDL receptor related protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534 		JBrowse link
G MBL2 mannose binding lectin 2 susceptibility IAGP DNA:SNP:cds: RGD PMID:23246423 RGD:8693695 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784 		JBrowse link
G MITF melanocyte inducing transcription factor IAGP ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:8659547 PMID:20127975 PMID:20478267 PMID:22320238 PMID:24194866 More... NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336 		JBrowse link
G MRPS7 mitochondrial ribosomal protein S7 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr17:75,261,879...75,266,376
Ensembl chr17:75,261,674...75,266,376 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:28027978 NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 More... NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MYH14 myosin heavy chain 14 IAGP DFNA4, OMIM:600652, DNA:point mutation:exon:S7X
ClinVar Annotator: match by term: Sensorineural hearing loss disorder 		ClinVar
RGD		 PMID:25741868 PMID:15015131 RGD:1600531 NCBI chr19:50,203,622...50,310,540
Ensembl chr19:50,188,186...50,310,542 		JBrowse link
G MYH9 myosin heavy chain 9 disease_progression IAGP associated with MYH9-Related Disorders;DNA:mutations:cds: RGD PMID:26226608 RGD:11533922 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G MYO15A myosin XVA IAGP DFNB3, OMIM:600316, DNA:point mutation:exon:I892F
ClinVar Annotator: match by term: Congenital sensorineural hearing impairment 		ClinVar
RGD		 PMID:9536098 PMID:17546645 PMID:17576681 PMID:24033266 PMID:24875298 More... RGD:1600554 NCBI chr17:18,108,756...18,179,800
Ensembl chr17:18,108,756...18,179,802 		JBrowse link
G MYO1A myosin IA IAGP DFNA48, OMIM:607841 RGD PMID:12736868 RGD:1600218 NCBI chr12:57,028,517...57,051,198
Ensembl chr12:57,028,517...57,051,198 		JBrowse link
G MYO1F myosin IF IAGP ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar NCBI chr19:8,520,778...8,577,442
Ensembl chr19:8,517,463...8,577,442 		JBrowse link
G MYO3A myosin IIIA IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:12032315 PMID:23990876 PMID:25741868 PMID:28492532 PMID:32006683 More... NCBI chr10:25,934,229...26,212,532
Ensembl chr10:25,934,229...26,212,532 		JBrowse link
G MYO6 myosin VI IAGP DFNA22, OMIM:606346, DNA:point mutation:exon:C442Y RGD PMID:11468689 RGD:1600556 NCBI chr 6:75,749,239...75,919,537
Ensembl chr 6:75,749,201...75,919,537 		JBrowse link
G MYO7A myosin VIIA IAGP DNA:missense mutation:exon:c.5660C>T (p.P1887L) (human)
ClinVar Annotator: match by term: Sensorineural hearing loss disorder
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment 		ClinVar
RGD		 PMID:16449806 PMID:19461658 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:8694138 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G NARS2 asparaginyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr11:78,435,968...78,574,864
Ensembl chr11:78,435,620...78,575,194 		JBrowse link
G NCOA3 nuclear receptor coactivator 3 IAGP ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:19461658 PMID:30311386 PMID:33326993 PMID:34652575 NCBI chr20:47,501,887...47,656,872
Ensembl chr20:47,501,887...47,656,877 		JBrowse link
G NEFL neurofilament light chain IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:12477167 PMID:12566280 PMID:19158810 PMID:20301384 PMID:21840889 More... NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G NGF nerve growth factor IEP protein:decreased expression:serum: RGD PMID:14587217 RGD:8655553 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770 		JBrowse link
G OTOF otoferlin IAGP ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:12525542 PMID:16199547 PMID:16371502 PMID:18381613 PMID:19250381 More... NCBI chr 2:26,457,203...26,558,756
Ensembl chr 2:26,457,203...26,558,756 		JBrowse link
G P2RX2 purinergic receptor P2X 2 IAGP ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:19461658 PMID:28492532 PMID:30311386 PMID:34652575 NCBI chr12:132,618,776...132,622,388
Ensembl chr12:132,618,776...132,622,388 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:19877282 PMID:25079577 PMID:25741868 PMID:28492532 PMID:32399598 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked ISO DNA:mutations:cds: RGD PMID:15029877 RGD:11556244 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G PHF7 PHD finger protein 7 IAGP ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr 3:52,410,660...52,423,641
Ensembl chr 3:52,410,660...52,423,641 		JBrowse link
G PLS1 plastin 1 IAGP ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:31397523 NCBI chr 3:142,596,393...142,713,664
Ensembl chr 3:142,596,393...142,713,664 		JBrowse link
G PLSCR4 phospholipid scramblase 4 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 3:146,192,335...146,251,105
Ensembl chr 3:146,192,335...146,251,179 		JBrowse link
G POU4F3 POU class 4 homeobox 3 IAGP ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:25741868 NCBI chr 5:146,338,839...146,341,728
Ensembl chr 5:146,338,839...146,341,728 		JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 IAGP ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr  X:49,174,802...49,186,373
Ensembl chr  X:49,174,802...49,186,528 		JBrowse link
G PRKCB protein kinase C beta IAGP ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27329761 NCBI chr16:23,835,983...24,220,611
Ensembl chr16:23,835,983...24,220,611 		JBrowse link
G PTGDS prostaglandin D2 synthase ISO protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr 9:136,977,504...136,981,742
Ensembl chr 9:136,975,092...136,981,742 		JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr12:80,444,235...80,680,273
Ensembl chr12:80,402,178...80,680,273 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25590979 PMID:25741868 PMID:28492532 PMID:28967629 PMID:31523922 NCBI chr  X:130,110,623...130,184,870
Ensembl chr  X:130,171,962...130,184,870 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:8279480 PMID:25741868 PMID:28492532 PMID:32827185 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G SCP2 sterol carrier protein 2 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 PMID:33713422 NCBI chr 1:52,927,276...53,051,698
Ensembl chr 1:52,927,276...53,051,698 		JBrowse link
G SEMA3D semaphorin 3D IAGP ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr 7:84,995,553...85,250,243
Ensembl chr 7:84,995,553...85,187,056 		JBrowse link
G SLC12A2 solute carrier family 12 member 2 ISO
IAGP 		protein:decreased expression:cochlea:
ClinVar Annotator: match by term: Sensorineural hearing loss disorder 		ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:34374074 PMID:23827367 RGD:7349365 NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 More... NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15279074 PMID:16053392 PMID:17322586 NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809 		JBrowse link
G SLC26A5 solute carrier family 26 member 5 ISO mRNA:decreased expression:organ of Corti (mouse) RGD PMID:19363478 RGD:9585667 NCBI chr 7:103,352,730...103,446,207
Ensembl chr 7:103,352,730...103,446,207 		JBrowse link
G SLC52A2 solute carrier family 52 member 2 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 8:144,358,552...144,361,272
Ensembl chr 8:144,333,957...144,361,286 		JBrowse link
G SLC7A14 solute carrier family 7 member 14 ISS MouseDO NCBI chr 3:170,459,548...170,586,075
Ensembl chr 3:170,459,548...170,586,075 		JBrowse link
G SLC7A8 solute carrier family 7 member 8 ISS OMIM:304400 MouseDO NCBI chr14:23,125,295...23,183,660
Ensembl chr14:23,125,295...23,183,674 		JBrowse link
G SLITRK6 SLIT and NTRK like family member 6 ISS OMIM:304400 MouseDO NCBI chr13:85,792,790...85,799,419
Ensembl chr13:85,792,790...85,806,683 		JBrowse link
G SOD2 superoxide dismutase 2 ISO protein:increased activity:cochlea: RGD PMID:15109710 RGD:8547516 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G SPNS2 SPNS lysolipid transporter 2, sphingosine-1-phosphate IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr17:4,498,881...4,539,035
Ensembl chr17:4,498,881...4,539,035 		JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase treatment ISO RGD PMID:24472721 RGD:11554193 NCBI chr20:37,344,699...37,406,050
Ensembl chr20:37,344,685...37,406,050 		JBrowse link
G STRC stereocilin IAGP RGD PMID:11687802 RGD:1599186 NCBI chr15:43,599,563...43,618,800
Ensembl chr15:43,599,563...43,618,800 		JBrowse link
G STX4 syntaxin 4 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:30311386 PMID:36355422 NCBI chr16:31,033,095...31,040,168
Ensembl chr16:31,032,889...31,042,975 		JBrowse link
G TBCEL-TECTA TBCEL-TECTA readthrough IAGP ClinVar Annotator: match by term: Congenital sensorineural hearing impairment
ClinVar Annotator: match by term: Sensorineural hearing loss disorder 		ClinVar PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 More... NCBI chr11:121,024,102...121,191,490
Ensembl chr11:121,024,125...121,113,108 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP DNA:frameshift mutation:CDS:p.G387AfsX73 (human) RGD PMID:32110744 RGD:155641234 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TCF19 transcription factor 19 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 6:31,158,589...31,164,215
Ensembl chr 6:31,158,331...31,167,159 		JBrowse link
G TECTA tectorin alpha IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder
ClinVar Annotator: match by term: Congenital sensorineural hearing impairment
autosomal dominant nonsyndromic sensorineural deafness DFNA12, OMIM:601842 and DFNA8, OMIM:601543 		ClinVar
RGD		 PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 More... RGD:1599381, RGD:1599380 NCBI chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490 		JBrowse link
G TENM1 teneurin transmembrane protein 1 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr  X:124,375,903...125,204,312
Ensembl chr  X:124,375,903...125,204,312 		JBrowse link
G TFAM transcription factor A, mitochondrial IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr10:58,385,410...58,399,220
Ensembl chr10:58,385,345...58,399,220 		JBrowse link
G TMC1 transmembrane channel like 1 IAGP DFNA36, OMIM:606705, DFNB7, OMIM:600974
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment 		ClinVar
RGD		 PMID:11850618 RGD:1599440 NCBI chr 9:72,521,608...72,838,297
Ensembl chr 9:72,521,608...72,838,297 		JBrowse link
G TMIE transmembrane inner ear IAGP DFNB6, OMIM:600971
ClinVar Annotator: match by term: Sensorineural hearing loss disorder 		ClinVar
RGD		 PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:30303587 More... RGD:1599441 NCBI chr 3:46,693,778...46,710,886
Ensembl chr 3:46,694,528...46,710,886 		JBrowse link
G TMPRSS3 transmembrane serine protease 3 IAGP DFNB10, OMIM:605316, DFNB8 OMIM:601072 RGD PMID:11137999 RGD:1599443 NCBI chr21:42,371,890...42,396,052
Ensembl chr21:42,371,887...42,396,091 		JBrowse link
G TNC tenascin C IAGP ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:25741868 NCBI chr 9:115,019,575...115,118,157
Ensembl chr 9:115,019,575...115,118,207 		JBrowse link
G TNF tumor necrosis factor IMP
IEP
IDA 		associated with Hearing Loss, Sensorineural;protein:increased expression:serum: RGD PMID:16988499 PMID:19684145 PMID:23165380 RGD:7387303, RGD:8142347, RGD:7394704 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TOP1MT DNA topoisomerase I mitochondrial IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 8:143,309,324...143,359,977
Ensembl chr 8:143,304,384...143,359,979 		JBrowse link
G TOP3A DNA topoisomerase III alpha IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr17:18,271,428...18,314,994
Ensembl chr17:18,271,428...18,315,007 		JBrowse link
G USH1C USH1 protein network component harmonin ISO RGD PMID:20211154 RGD:8695932 NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416 		JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Congenital sensorineural hearing impairment
ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder 		ClinVar PMID:2564938 PMID:10729113 PMID:10909849 PMID:15015129 PMID:16963483 More... NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
G USH2A-AS2 USH2A antisense RNA 2 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 1:216,072,465...216,086,917
Ensembl chr 1:216,072,454...216,086,917 		JBrowse link
G USP31 ubiquitin specific peptidase 31 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr16:23,061,406...23,149,452
Ensembl chr16:23,061,406...23,149,452 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP DNA:missense mutations: :multiple
ClinVar Annotator: match by term: Sensorineural hearing loss
DNA:missense mutation:cds:p.R456H (rs1801206) (human)
associated with Diabetes Mellitus, Type 2 		ClinVar
RGD		 PMID:12107816 PMID:22238590 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:8694398, RGD:8694404, RGD:8694401 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
G WHRN whirlin IAGP RGD PMID:12833159 RGD:1580603 NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,078...114,505,473 		JBrowse link
G ZSCAN10 zinc finger and SCAN domain containing 10 IAGP ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:38386308 NCBI chr16:3,088,890...3,099,294
Ensembl chr16:3,088,890...3,099,295 		JBrowse link
short stature, hearing loss, retinitis pigmentosa, and distinctive facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EXOSC2 exosome component 2 IAGP ClinVar Annotator: match by term: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES
ClinVar Annotator: match by term: EXOSC2-related condition
ClinVar Annotator: match by term: EXOSC2-related condition | ClinVar Annotator: match by term: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
ClinVar Annotator: match by term: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | ClinVar Annotator: match by term: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies 		ClinVar
OMIM		 PMID:14647208 PMID:15060126 PMID:16199547 PMID:24447024 PMID:25741868 More... NCBI chr 9:130,693,760...130,704,894
Ensembl chr 9:130,693,721...130,707,288 		JBrowse link
G LOC130002815 ATAC-STARR-seq lymphoblastoid active region 29156 IAGP ClinVar Annotator: match by term: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES ClinVar PMID:14647208 PMID:15060126 PMID:24447024 PMID:25741868 PMID:26843489 More... NCBI chr 9:130,693,843...130,694,032 JBrowse link
Siddiqi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FITM2 fat storage inducing transmembrane protein 2 IAGP ClinVar Annotator: match by term: FITM2-related condition | ClinVar Annotator: match by term: Siddiqi syndrome OMIM
ClinVar		 PMID:25741868 PMID:28067622 PMID:30214770 PMID:30288795 NCBI chr20:44,302,840...44,311,202
Ensembl chr20:44,302,840...44,311,202 		JBrowse link
Sinoatrial Node Dysfunction and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1D calcium voltage-gated channel subunit alpha1 D IAGP ClinVar Annotator: match by term: Sinoatrial node dysfunction and deafness OMIM
ClinVar		 PMID:21131953 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26842699 More... NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733 		JBrowse link
G DNAH9 dynein axonemal heavy chain 9 IAGP ClinVar Annotator: match by term: Sinoatrial node dysfunction and deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748 		JBrowse link
G LOC129936904 ATAC-STARR-seq lymphoblastoid active region 19969 IAGP ClinVar Annotator: match by term: Sinoatrial node dysfunction and deafness ClinVar PMID:25741868 PMID:26842699 PMID:28492532 PMID:30054272 NCBI chr 3:53,749,273...53,749,472 JBrowse link
split hand-foot malformation 1 with sensorineural hearing loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLX5 distal-less homeobox 5 IAGP
EXP 		ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss
ClinVar Annotator: match by term: DLX5-related condition
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:22121204 PMID:25741868 PMID:28492532 NCBI chr 7:97,020,396...97,024,831
Ensembl chr 7:97,020,396...97,024,950 		JBrowse link
G LOC126860116 CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:96650255-96651454 IAGP ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss
ClinVar Annotator: match by term: DLX5-related condition 		ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:97,020,943...97,022,142 JBrowse link
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 IAGP ClinVar Annotator: match by term: SHILCA SYNDROME OMIM
ClinVar		 PMID:22842227 PMID:22842230 PMID:22842231 PMID:25741868 PMID:26018082 More... NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501 		JBrowse link
Sudden Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPX3 glutathione peroxidase 3 IAGP DNA:SNP: :rs3805435 (human) RGD PMID:28738977 RGD:401827121 NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 treatment IAGP DNA:polymorphism: : HLA-DQA1*01 RGD PMID:11493203 RGD:8547564 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphism: :HLA-DRB1*14,HLA-DRB1*04(human)
DNA:polymorphism: :HLA-DRB1*0403(human) 		RGD PMID:11099146 PMID:16303674 RGD:7365092, RGD:7365115 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HSPA1A heat shock protein family A (Hsp70) member 1A IAGP DNA:SNP, haplotype: :rs1043618 (human) RGD PMID:22922572 RGD:8662465 NCBI chr 6:31,815,543...31,817,942
Ensembl chr 6:31,815,543...31,817,946 		JBrowse link
G HSPA1B heat shock protein family A (Hsp70) member 1B IAGP DNA:SNP, haplotype: :rs2763979 (human) RGD PMID:22922572 RGD:8662465 NCBI chr 6:31,827,738...31,830,254
Ensembl chr 6:31,827,738...31,830,254 		JBrowse link
G HSPA1L heat shock protein family A (Hsp70) member 1 like IAGP DNA:SNP, haplotype: :rs2075800 (human) RGD PMID:22922572 RGD:8662465 NCBI chr 6:31,809,619...31,815,283
Ensembl chr 6:31,809,619...31,815,283 		JBrowse link
G IGF1 insulin like growth factor 1 treatment IDA RGD PMID:21108784 RGD:8548824 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IL4R interleukin 4 receptor IAGP DNA:SNP: :p.Q576R (rs 180275) (human) RGD PMID:16280132 RGD:7829784 NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778 		JBrowse link
G IL6 interleukin 6 susceptibility IEP
IAGP 		protein:increased expression:serum:
DNA:polymorphism:cds:p.C572G(human) 		RGD PMID:11189185 PMID:22385075 RGD:7394753, RGD:8547982 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G ITGA2 integrin subunit alpha 2 susceptibility IAGP DNA:SNP: :807C>T (human) RGD PMID:16525573 RGD:1582302 NCBI chr 5:52,989,352...53,094,779
Ensembl chr 5:52,989,340...53,094,779 		JBrowse link
G LTA lymphotoxin alpha IAGP DNA:polymorphism:intron:252A>G (human) RGD PMID:19833626 RGD:8548795 NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324 		JBrowse link
G MMP1 matrix metallopeptidase 1 IAGP DNA:insertion, SNP, haplotypes:promoter:-1607_-1606insG (rs1799750), -519A>G (human) RGD PMID:21154774 RGD:8549733 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility
no_association 		IAGP
EXP 		DNA:SNP: :677C>T(human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:cds:677C>T,1298A>C(human)
DNA:SNP:cds:677C>T(human) 		CTD
RGD		 PMID:16275406 PMID:20798492 PMID:15775757 PMID:16572609 RGD:7387236, RGD:7387243, RGD:7387240 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility IAGP DNA:SNP::2756A>G(human) RGD PMID:16778415 RGD:8694081 NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278 		JBrowse link
G NOS3 nitric oxide synthase 3 IAGP DNA:snp:cds:p.E298D (rs1799983) (human) RGD PMID:23560644 RGD:7771541 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G SERPINE1 serpin family E member 1 susceptibility IAGP DNA:deletion, haplotype:promoter:g.-676_-674delG (human) RGD PMID:22672326 RGD:8547731 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G TNF tumor necrosis factor IEP protein:increased expression:serum: RGD PMID:11189185 RGD:7394753 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
temtamy preaxial brachydactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHSY1 chondroitin sulfate synthase 1 IAGP
EXP 		ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome
ClinVar Annotator: match by term: CHSY1-related condition | ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:9823490 PMID:19952732 PMID:21129727 PMID:21129728 PMID:25741868 More... NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048 		JBrowse link
G LOC130058068 ATAC-STARR-seq lymphoblastoid silent region 6885 IAGP ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome ClinVar PMID:9823490 PMID:21129727 PMID:21129728 PMID:25741868 PMID:26467025 More... NCBI chr15:101,251,033...101,251,462 JBrowse link
thiamine-responsive megaloblastic anemia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC120893165 Sharpr-MPRA regulatory region 5964 IAGP ClinVar Annotator: match by term: Thiamine-responsive megaloblastic anemia ClinVar NCBI chr 1:169,485,951...169,487,001 JBrowse link
G LOC129931894 ATAC-STARR-seq lymphoblastoid silent region 1546 IAGP ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ClinVar Annotator: match by term: Thiamine-responsive megaloblastic anemia ClinVar PMID:14994241 PMID:17331069 PMID:25741868 PMID:28492532 NCBI chr 1:169,485,589...169,485,768 JBrowse link
G SLC19A2 solute carrier family 19 member 2 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ClinVar Annotator: match by term: Thiamine-responsive megaloblastic anemia
ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ClinVar Annotator: match by term: SLC19A2-related condition | ClinVar Annotator: match by term: Thiamine-responsive megaloblastic anemia
OMIM:249270
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:9399900 PMID:9856490 PMID:10391221 PMID:10391222 PMID:10391223 More... NCBI chr 1:169,463,909...169,485,970
Ensembl chr 1:169,463,909...169,485,944 		JBrowse link
Tietz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC107988030 MITF-M promoter region IAGP ClinVar Annotator: match by term: Tietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:69,934,398...69,936,727 JBrowse link
G LOC107988042 MITF-A promoter region IAGP ClinVar Annotator: match by term: Tietz syndrome ClinVar PMID:25741868 NCBI chr 3:69,737,258...69,739,699 JBrowse link
G MITF melanocyte inducing transcription factor IAGP
ISS
EXP 		ClinVar Annotator: match by term: Tietz syndrome
OMIM:103500
CTD Direct Evidence: marker/mechanism 		ClinVar
OMIM
MouseDO
CTD		 PMID:2440678 PMID:7874167 PMID:7874168 PMID:8589691 PMID:8659547 More... NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336 		JBrowse link
Townes-Brocks syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY7 adenylate cyclase 7 IAGP ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr16:50,244,699...50,318,135
Ensembl chr16:50,246,137...50,318,135 		JBrowse link
G BRD7 bromodomain containing 7 IAGP ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr16:50,315,957...50,368,988
Ensembl chr16:50,313,487...50,368,988 		JBrowse link
G CNEP1R1 CTD nuclear envelope phosphatase 1 regulatory subunit 1 IAGP ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr16:50,025,225...50,037,081
Ensembl chr16:50,024,410...50,037,088 		JBrowse link
G CYLD CYLD lysine 63 deubiquitinase IAGP ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr16:50,742,086...50,801,935
Ensembl chr16:50,742,050...50,801,935 		JBrowse link
G DACT1 dishevelled binding antagonist of beta catenin 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321 		JBrowse link
G HEATR3 HEAT repeat containing 3 IAGP ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272 		JBrowse link
G NKD1 NKD inhibitor of WNT signaling pathway 1 IAGP ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr16:50,548,396...50,649,249
Ensembl chr16:50,548,396...50,649,249 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G SALL1 spalt like transcription factor 1 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Townes-Brocks syndrome 1
ClinVar Annotator: match by term: Townes syndrome
ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1
ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1
ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome
OMIM:107480
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:8133838 PMID:9425907 PMID:9536098 PMID:9973281 PMID:10533063 More... NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334 		JBrowse link
G SNX20 sorting nexin 20 IAGP ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr16:50,666,300...50,681,312
Ensembl chr16:50,666,300...50,681,353 		JBrowse link
G TENT4B terminal nucleotidyltransferase 4B IAGP ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr16:50,152,911...50,235,310
Ensembl chr16:50,152,911...50,235,310 		JBrowse link
G ZNF423 zinc finger protein 423 IAGP ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr16:49,487,524...49,859,279
Ensembl chr16:49,487,524...49,857,919 		JBrowse link
Townes-Brocks Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DACT1 dishevelled binding antagonist of beta catenin 1 IAGP ClinVar Annotator: match by term: Townes-Brocks syndrome 2
ClinVar Annotator: match by term: DACT1-related condition | ClinVar Annotator: match by term: Townes-Brocks syndrome 2 		ClinVar
OMIM		 PMID:25741868 PMID:28054444 PMID:28492532 PMID:36066768 NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321 		JBrowse link
G LOC130055736 ATAC-STARR-seq lymphoblastoid silent region 5801