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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 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28492532 PMID:30311386 NCBI chr23:1,496,183...1,562,738
Ensembl chr23:1,496,551...1,562,688 		JBrowse link
G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:19477959 PMID:20301607 PMID:24033266 PMID:25741868 PMID:25792668 More... NCBI chr 9:635,978...638,328
Ensembl chr 9:635,978...638,328 		JBrowse link
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:19357117 PMID:22135276 PMID:22147658 PMID:24033266 PMID:25741868 More... NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:17594715 PMID:24462884 PMID:25296579 PMID:25741868 PMID:26066530 More... NCBI chr17:49,301,397...49,513,729
Ensembl chr17:49,301,606...49,513,625 		JBrowse link
G ANAPC15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:25741868 NCBI chr21:25,971,680...25,975,556
Ensembl chr21:25,972,458...25,975,558 		JBrowse link
G APOE apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:19738398 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440 		JBrowse link
G ARC activity regulated cytoskeleton associated protein treatment ISO mRNA:decreased expression:auditory cortex: RGD PMID:18524887 PMID:18607918 RGD:8655535 RGD:8655538 NCBI chr13:36,743,027...36,744,266 JBrowse link
G ATOH1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Hearing loss ClinVar PMID:25741868 NCBI chr32:16,807,217...16,809,294
Ensembl chr32:16,807,336...16,808,406 		JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474 		JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:9916796 PMID:16769747 PMID:18368028 PMID:24033266 PMID:25741868 More... NCBI chr10:69,261,311...69,287,540
Ensembl chr10:69,252,926...69,287,542 		JBrowse link
G B3GNT4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28492532 PMID:30311386 NCBI chr26:7,145,120...7,147,732
Ensembl chr26:7,145,262...7,146,335 		JBrowse link
G BARHL1 BarH like homeobox 1 ISO RGD PMID:12091321 RGD:14390166 NCBI chr 9:51,704,590...51,711,726
Ensembl chr 9:51,703,936...51,712,093 		JBrowse link
G BCL2L1 BCL2 like 1 ISO CTD Direct Evidence: therapeutic CTD PMID:17697574 NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355 		JBrowse link
G BDNF brain derived neurotrophic factor ISO mRNA:increased expression:cochlea: RGD PMID:18524887 RGD:8655535 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480 		JBrowse link
G BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr 2:54,654,406...54,743,443
Ensembl chr 2:54,654,481...54,740,787 		JBrowse link
G BMP2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28492532 PMID:30872814 NCBI chr24:15,199,667...15,211,509
Ensembl chr24:15,200,291...15,212,217 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:17275231 RGD:8698665 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:9536098 PMID:17576681 PMID:19530235 PMID:21548014 PMID:22632462 More... NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815 		JBrowse link
G BSND barttin CLCNK type accessory subunit beta ISO 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 5:54,225,393...54,239,305
Ensembl chr 5:54,225,389...54,237,110 		JBrowse link
G C10H2orf15 chromosome 10 C2orf15 homolog ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:27247813 PMID:28492532 NCBI chr10:43,545,023...43,556,215 JBrowse link
G C4H10orf105 chromosome 4 C10orf105 homolog ISO 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 chr 4:22,472,365...22,478,931 JBrowse link
G CABP2 calcium binding protein 2 ISO 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 chr18:49,960,656...49,963,889
Ensembl chr18:49,959,544...49,964,268 		JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:16199547 PMID:28492532 PMID:30311386 NCBI chr20:36,189,986...36,488,460
Ensembl chr20:36,191,810...36,613,686 		JBrowse link
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27798183 NCBI chr20:38,859,047...38,995,239
Ensembl chr20:38,883,530...38,993,273 		JBrowse link
G CATSPER2 cation channel sperm associated 2 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar NCBI chr30:10,471,798...10,487,948
Ensembl chr30:10,471,814...10,487,739 		JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:8894709 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 More... NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131 		JBrowse link
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 1:110,652,362...110,661,173
Ensembl chr 1:110,652,584...110,660,334 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr29:11,115,865...11,284,713
Ensembl chr29:11,156,340...11,283,627 		JBrowse link
G CHSY1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30872814 NCBI chr 3:39,844,227...39,916,484
Ensembl chr 3:39,844,195...40,021,573 		JBrowse link
G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:2911222 PMID:23023331 PMID:24033266 PMID:25741868 PMID:26173970 More...
G CLCC1 chloride channel CLIC like 1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 PMID:30311386 NCBI chr 6:42,807,432...42,829,317
Ensembl chr 6:42,807,064...42,829,273 		JBrowse link
G CLDN14 claudin 14 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:11163249 PMID:15880785 PMID:22246673 PMID:23235333 PMID:25741868 More... NCBI chr31:31,677,410...31,725,794
Ensembl chr31:31,677,733...31,678,446 		JBrowse link
G CLDN9 claudin 9 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss ClinVar PMID:25741868 PMID:30311386 PMID:31175426 PMID:34265170 NCBI chr 6:38,172,035...38,174,089
Ensembl chr 6:38,172,550...38,173,203 		JBrowse link
G CLIC5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:30311386 NCBI chr12:14,160,524...14,318,174
Ensembl chr12:14,144,390...14,318,582 		JBrowse link
G CLRN1 clarin 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:11524702 PMID:12145752 PMID:19753315 PMID:20717163 PMID:22681893 More... NCBI chr23:45,512,639...45,551,010
Ensembl chr23:45,513,416...45,551,178 		JBrowse link
G COCH cochlin ISO 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 chr 8:10,215,101...10,230,017
Ensembl chr 8:10,214,536...10,233,550 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:30311386 PMID:33169910 NCBI chr 6:47,425,387...47,622,189
Ensembl chr 6:47,425,307...47,621,012 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:9536098 PMID:16033917 PMID:17576681 PMID:24033266 PMID:25633957 More... NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814 		JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:26626311 PMID:28492532 PMID:30311386 NCBI chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness ClinVar PMID:7987301 PMID:9269635 PMID:11044206 PMID:11134255 PMID:11961012 More... NCBI chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782 		JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:12028435 PMID:16467446 PMID:17396119 PMID:17942953 PMID:24033287 More... NCBI chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:8406498 PMID:8455372 PMID:9536098 PMID:10094548 PMID:11462238 More... NCBI chr  X:81,982,119...82,248,428
Ensembl chr  X:81,982,275...82,247,679 		JBrowse link
G COL9A1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:24036952 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr12:32,763,782...32,847,456
Ensembl chr12:32,764,496...32,847,574 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28492532 PMID:30311386 NCBI chr24:46,653,400...46,669,183
Ensembl chr24:46,662,376...46,667,884 		JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO mRNA, protein:altered expression:cochlea RGD PMID:24781382 RGD:9491762 NCBI chr 2:59,022,794...59,032,095
Ensembl chr 2:59,022,794...59,032,095 		JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO mRNA, protein:increased expression:cochlea RGD PMID:24781382 RGD:9491762 NCBI chr23:8,937,069...8,954,738
Ensembl chr23:8,938,906...8,952,808 		JBrowse link
G DIABLO diablo IAP-binding mitochondrial protein ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28492532 PMID:30311386 NCBI chr26:7,125,320...7,144,884
Ensembl chr26:7,125,405...7,144,308 		JBrowse link
G DIAPH1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed ClinVar PMID:24033266 PMID:24781755 PMID:25741868 PMID:26463574 PMID:28492532 More... NCBI chr 2:36,483,781...36,581,390
Ensembl chr 2:36,485,571...36,581,320 		JBrowse link
G DIAPH3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr22:15,573,485...16,078,580
Ensembl chr22:15,573,629...16,079,031 		JBrowse link
G DMXL2 Dmx like 2 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr30:17,156,077...17,308,641
Ensembl chr30:17,156,791...17,308,803 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532572 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029 		JBrowse link
G DSPP dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 NCBI chr32:11,017,440...11,022,780 JBrowse link
G EDNRB endothelin receptor type B ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:14633923 PMID:16944573 PMID:17554617 PMID:18162831 PMID:20127975 More... NCBI chr22:31,415,324...31,438,772
Ensembl chr22:31,417,308...31,437,587 		JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 ISO associated with mandibulofacial dysostosis, Guion-Almeida type;DNA:mutations:cds:multiple RGD PMID:24470203 RGD:155791662 NCBI chr 9:18,585,918...18,631,743
Ensembl chr 9:18,585,971...18,635,570 		JBrowse link
G EPS8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:25741868 PMID:30303587 NCBI chr27:30,893,884...31,070,401
Ensembl chr27:30,893,713...31,069,770 		JBrowse link
G ERAL1 Era like 12S mitochondrial rRNA chaperone 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar NCBI chr 9:43,025,743...43,030,728
Ensembl chr 9:43,025,782...43,030,578 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25440059 NCBI chr28:1,358,383...1,432,276
Ensembl chr28:1,361,107...1,427,162 		JBrowse link
G ESPN espin ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:30303587 NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676 		JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:18317592 RGD:8553063 NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691 		JBrowse link
G ESRRB estrogen related receptor beta ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:23967202 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 More... NCBI chr 8:49,253,877...49,424,148
Ensembl chr 8:49,253,332...49,421,332 		JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:23552953 PMID:24033266 PMID:25741868 PMID:26667035 PMID:28492532 More... NCBI chr29:20,176,306...20,595,131
Ensembl chr29:20,177,014...20,525,653 		JBrowse link
G EYA4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:24033266 PMID:28492532 PMID:30311386 NCBI chr 1:26,208,514...26,514,601
Ensembl chr 1:26,272,448...26,514,201 		JBrowse link
G FOXC1 forkhead box C1 ISO associated with Axenfeld-Rieger Syndrome;DNA:deletion:cds:437-453del17(human) RGD PMID:17653043 RGD:12904051
G FOXI1 forkhead box I1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed ClinVar PMID:25741868 PMID:30311386 NCBI chr 4:41,760,899...41,764,887
Ensembl chr 4:41,761,016...41,764,836 		JBrowse link
G GATA3 GATA binding protein 3 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 2:28,068,143...28,098,445
Ensembl chr 2:28,069,051...28,087,760 		JBrowse link
G GIPC3 GIPC PDZ domain containing family member 3 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:30303587 PMID:30311386 PMID:32682410 NCBI chr20:55,833,876...55,837,621 JBrowse link
G GJA1 gap junction protein alpha 1 no_association ISO DNA:polymorphisms RGD PMID:12791041 RGD:8662384 NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936 		JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289 		JBrowse link
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:10587579 PMID:11309368 PMID:12165562 PMID:15276679 PMID:19050930 More... NCBI chr15:7,175,010...7,177,145 JBrowse link
G GJB6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605 		JBrowse link
G GOSR2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:35802133 PMID:37074134 NCBI chr 9:10,201,625...10,220,688 JBrowse link
G GPR156 G protein-coupled receptor 156 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:37814107 NCBI chr33:23,720,883...23,804,289
Ensembl chr33:23,722,672...23,774,283 		JBrowse link
G GPSM2 G protein signaling modulator 2 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:20602914 PMID:22578326 PMID:24033266 PMID:25741868 PMID:30303587 More... NCBI chr 6:42,828,611...42,878,334
Ensembl chr 6:42,824,455...42,868,690 		JBrowse link
G GRHL2 grainyhead like transcription factor 2 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr13:3,204,898...3,362,533
Ensembl chr13:3,204,925...3,362,096 		JBrowse link
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:20137778 PMID:24033266 PMID:25802247 PMID:28492532 PMID:30303587 More... NCBI chr13:39,766,910...39,882,076
Ensembl chr13:39,766,919...39,882,086 		JBrowse link
G GRXCR2 glutaredoxin and cysteine rich domain containing 2 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar NCBI chr 2:40,310,285...40,330,200
Ensembl chr 2:40,315,807...40,328,240 		JBrowse link
G GSDME gasdermin E ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed ClinVar PMID:28492532 PMID:30311386 NCBI chr14:38,210,975...38,286,729
Ensembl chr14:38,211,540...38,292,280 		JBrowse link
G HGF hepatocyte growth factor ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263 		JBrowse link
G HOXA2 homeobox A2 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 NCBI chr14:40,273,992...40,276,975
Ensembl chr14:40,274,469...40,276,239 		JBrowse link
G IL10 interleukin 10 treatment ISO associated with Autoimmune Diseases
associated with Meningitis, Pneumococcal 		RGD PMID:21697956 PMID:22644021 RGD:7364829 RGD:7364842 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 ISO 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 chr33:25,207,537...25,238,071
Ensembl chr33:25,207,572...25,237,949 		JBrowse link
G KARS1 lysyl-tRNA synthetase 1 ISO 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 chr 5:75,172,976...75,188,197
Ensembl chr 5:75,173,032...75,188,197 		JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Hereditary hearing loss and deafness ClinVar NCBI chr31:29,858,428...29,868,315 JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:27171548 PMID:28492532 NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:19716085 PMID:23788249 PMID:25525159 PMID:25741868 PMID:27707468 More... NCBI chr18:46,554,390...46,830,533
Ensembl chr18:46,518,908...46,830,043 		JBrowse link
G KCNQ4 potassium voltage-gated channel subfamily Q member 4 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr15:2,203,938...2,257,152
Ensembl chr15:2,205,276...2,242,093 		JBrowse link
G LHFPL5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:16459341 PMID:25741868 PMID:28492532 PMID:30177809 PMID:30298622 More... NCBI chr12:4,919,732...4,936,823
Ensembl chr12:4,902,832...4,936,413 		JBrowse link
G LMX1A LIM homeobox transcription factor 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29971487 NCBI chr38:17,958,366...18,111,155
Ensembl chr38:17,956,961...18,109,049 		JBrowse link
G LOC106560171 transmembrane O-methyltransferase ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:27260575 PMID:28492532 More... NCBI chr21:25,975,547...25,981,097 JBrowse link
G LOC478277 creatine kinase U-type, mitochondrial ISO ClinVar Annotator: match by term: Hearing impairment ClinVar NCBI chr30:10,438,566...10,444,532 JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:16199547 PMID:19732867 PMID:21465660 PMID:22341973 PMID:23804846 More... NCBI chr 7:44,662,800...44,828,405
Ensembl chr 7:44,663,182...44,826,858 		JBrowse link
G LRP2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr36:13,910,450...14,107,081
Ensembl chr36:13,911,865...14,107,546 		JBrowse link
G LRTOMT leucine rich transmembrane and O-methyltransferase domain containing ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar NCBI chr21:25,987,687...26,000,545
Ensembl chr21:25,987,433...26,000,327 		JBrowse link
G MANBA mannosidase beta ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:2079835 PMID:9384606 PMID:12468273 PMID:16199547 PMID:18565776 More... NCBI chr32:24,052,078...24,167,565
Ensembl chr32:24,038,920...24,167,535 		JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss ClinVar PMID:25741868 PMID:28492532 PMID:30311386 PMID:30872814 NCBI chr 2:43,918,210...43,996,817
Ensembl chr 2:43,917,604...43,995,209 		JBrowse link
G MARVELD2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:16199547 PMID:17186462 PMID:18084694 PMID:22097895 PMID:24033266 More... NCBI chr 2:54,438,046...54,458,890
Ensembl chr 2:54,441,797...54,457,515 		JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:11007980 PMID:11071498 PMID:11309367 PMID:11772708 PMID:11805248 More... NCBI chr  X:121,866,721...121,876,088
Ensembl chr  X:121,873,218...121,932,994 		JBrowse link
G MIR96 microRNA mir-96 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr14:7,068,754...7,068,842
Ensembl chr14:7,068,754...7,068,842 		JBrowse link
G MITD1 microtubule interacting and trafficking domain containing 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:27247813 PMID:28492532 NCBI chr10:43,513,240...43,525,543
Ensembl chr10:43,513,277...43,523,883 		JBrowse link
G MITF melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:8659547 PMID:9856573 PMID:25741868 NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578 		JBrowse link
G MPZL2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:21270786 PMID:25741868 PMID:27981572 PMID:28492532 PMID:29961571 More... NCBI chr 5:15,446,803...15,458,667
Ensembl chr 5:15,447,104...15,458,515 		JBrowse link
G MSRB3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:19650862 PMID:21185009 PMID:24033266 PMID:25741868 PMID:30303587 NCBI chr10:7,892,745...8,040,196
Ensembl chr10:7,892,640...8,038,043 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28027978 NCBI chr MT:14,183...15,322
Ensembl chr MT:14,183...15,322 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28027978 NCBI chr MT:10,201...11,578
Ensembl chr MT:10,201...11,578 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28027978 NCBI chr MT:11,778...13,598
Ensembl chr MT:11,778...13,598 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T(human) RGD PMID:21385350 RGD:7387225 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:SNP::2756A>G(human) RGD PMID:21385350 RGD:7387225 NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115 		JBrowse link
G MYH14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss ClinVar PMID:24033266 PMID:25741868 PMID:27393652 PMID:28492532 PMID:29293505 More... NCBI chr 1:106,371,952...106,460,388
Ensembl chr 1:106,371,939...106,458,901 		JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:18059020 PMID:24033266 PMID:28492532 PMID:30311386 PMID:30872814 More... NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953 		JBrowse link
G MYO15A myosin XVA ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:2574186 PMID:7616538 PMID:7704031 PMID:9536098 PMID:16199547 More... NCBI chr 5:41,369,484...41,421,303
Ensembl chr 5:41,370,509...41,392,881 		JBrowse link
G MYO3A myosin IIIA ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 PMID:36147510 More... NCBI chr 2:7,455,125...7,695,483
Ensembl chr 2:7,455,625...7,696,043 		JBrowse link
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:9536098 PMID:12687499 PMID:17576681 PMID:18348273 PMID:21078986 More... NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:8900236 PMID:9259201 PMID:10094549 PMID:10425080 PMID:10447383 More... NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279 		JBrowse link
G NDP norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:14635119 PMID:25741868 PMID:28492532 PMID:30311386 PMID:31456290 More... NCBI chr  X:37,949,560...37,975,573
Ensembl chr  X:37,950,489...37,975,346 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:28492532 PMID:29922587 PMID:30311386 NCBI chr 8:251,776...313,290
Ensembl chr 8:253,407...313,059 		JBrowse link
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 NCBI chr  X:120,720,118...120,754,573
Ensembl chr  X:120,720,183...120,754,143 		JBrowse link
G NTF3 neurotrophin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:18024279 NCBI chr27:39,383,017...39,454,613
Ensembl chr27:39,383,152...39,454,601 		JBrowse link
G OTOA otoancorin ISO 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 chr 6:23,106,650...23,175,159
Ensembl chr 6:23,106,804...23,168,380 		JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:12525542 PMID:14635104 PMID:18381613 PMID:19250381 PMID:19461658 More... NCBI chr17:20,518,480...20,619,713
Ensembl chr17:20,518,813...20,614,750 		JBrowse link
G OTOG otogelin ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 PMID:28492532 PMID:30303587 PMID:30311386 PMID:32048449 NCBI chr21:40,103,163...40,193,680
Ensembl chr21:40,106,826...40,192,475 		JBrowse link
G OTOGL otogelin like ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 PMID:28492532 PMID:30311386 NCBI chr15:22,623,183...22,754,605
Ensembl chr15:22,556,295...22,753,956 		JBrowse link
G OXR1 oxidation resistance 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:36130215 NCBI chr13:7,220,959...7,580,881
Ensembl chr13:7,220,958...7,579,473 		JBrowse link
G PAX3 paired box 3 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:24033266 PMID:28492532 PMID:30311386 NCBI chr37:28,346,476...28,443,648
Ensembl chr37:28,346,563...28,444,561 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 PMID:25468891 PMID:25741868 PMID:28492532 PMID:30303587 More... NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017 		JBrowse link
G PDE5A phosphodiesterase 5A treatment ISO RGD PMID:22270721 RGD:7775056 NCBI chr32:38,272,573...38,407,517
Ensembl chr32:38,244,338...38,407,522 		JBrowse link
G PDZD7 PDZ domain containing 7 ISO 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 chr28:13,693,032...13,711,654
Ensembl chr28:13,693,023...13,711,784 		JBrowse link
G PJVK pejvakin ISO 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 chr36:22,080,574...22,087,537
Ensembl chr36:22,040,303...22,092,249 		JBrowse link
G PLS1 plastin 1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness ClinVar PMID:25741868 PMID:30872814 PMID:31397523 PMID:31432506 NCBI chr23:38,243,631...38,347,195
Ensembl chr23:38,243,024...38,347,202 		JBrowse link
G POLR1C RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:610060 PMID:22855961 PMID:25741868 PMID:26151409 PMID:28492532 More... NCBI chr12:11,978,337...11,982,265
Ensembl chr12:11,978,422...12,008,579 		JBrowse link
G POLR1D RNA polymerase I and III subunit D ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr25:11,997,020...11,998,742 JBrowse link
G POLR2F RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:17999358 PMID:20127975 PMID:26467025 PMID:27240497 PMID:28492532 More... NCBI chr10:26,694,895...26,707,451
Ensembl chr10:26,691,256...26,707,507 		JBrowse link
G POU3F4 POU class 3 homeobox 4 ISO ClinVar Annotator: match by term: X-linked nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr  X:64,427,161...64,428,825
Ensembl chr  X:64,427,325...64,428,410 		JBrowse link
G POU4F3 POU class 4 homeobox 3 ISO 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 2:40,762,499...40,764,131
Ensembl chr 2:40,762,477...40,765,161 		JBrowse link
G PRKG1 protein kinase cGMP-dependent 1 ISO RGD PMID:22270721 RGD:7775056 NCBI chr26:35,732,974...36,932,744
Ensembl chr26:35,737,242...36,932,729 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr36:22,061,226...22,080,324
Ensembl chr36:22,061,461...22,080,612 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: X-linked nonsyndromic hearing loss ClinVar NCBI chr  X:81,150,537...81,171,521
Ensembl chr  X:81,150,536...81,212,689 		JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848 		JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:25741868 PMID:30303587 PMID:30311386 NCBI chr15:22,771,653...23,017,694
Ensembl chr15:22,825,348...23,013,762 		JBrowse link
G PTPRS protein tyrosine phosphatase receptor type S ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30872814 NCBI chr20:54,575,853...54,672,141
Ensembl chr20:54,575,895...54,672,068 		JBrowse link
G RDX radixin ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:25741868 PMID:30311386 NCBI chr 5:22,555,913...22,642,822
Ensembl chr 5:22,571,286...22,642,811 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12920075 NCBI chr  X:33,056,371...33,105,036
Ensembl chr  X:32,745,020...33,330,841 		JBrowse link
G SEMA3F semaphorin 3F ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr20:39,135,580...39,165,381
Ensembl chr20:39,136,523...39,161,325 		JBrowse link
G SERPINB6 serpin family B member 6 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr35:3,234,694...3,245,726
Ensembl chr35:3,234,697...3,262,829 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 ISO ClinVar Annotator: match by term: Hereditary hearing loss and deafness ClinVar PMID:25741868 NCBI chr17:59,208,989...59,214,643
Ensembl chr17:59,208,990...59,213,991 		JBrowse link
G SH3PXD2B SH3 and PX domains 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19669234 NCBI chr 4:39,854,213...39,950,704
Ensembl chr 4:39,854,211...39,949,958 		JBrowse link
G SIX1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:28492532 PMID:30311386 PMID:34906515 NCBI chr 8:35,676,705...35,679,534
Ensembl chr 8:35,676,479...35,679,534 		JBrowse link
G SLC12A2 solute carrier family 12 member 2 ISO ClinVar Annotator: match by term: Hearing loss ClinVar PMID:25741868 PMID:28492532 PMID:32294086 PMID:32658972 NCBI chr11:17,143,943...17,256,248
Ensembl chr11:17,143,943...17,253,695 		JBrowse link
G SLC22A4 solute carrier family 22 member 4 ISO ClinVar Annotator: match by term: Hereditary hearing loss and deafness ClinVar PMID:27023905 PMID:28492532 PMID:33643381 PMID:34194829 NCBI chr11:20,599,281...20,643,893 JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:9070918 PMID:9398842 PMID:9500541 PMID:9536098 PMID:9618166 More... NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212 		JBrowse link
G SLC26A5 solute carrier family 26 member 5 no_association ISO DNA:snp:intron:IVS2-2A>G (human)
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		RGD
ClinVar		 PMID:16086836 PMID:30311386 RGD:9479051 NCBI chr18:16,783,795...16,841,946
Ensembl chr18:16,788,759...16,839,940 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20140240 NCBI chr 4:22,094,899...22,135,066
Ensembl chr 4:22,097,764...22,133,197 		JBrowse link
G SLC33A1 solute carrier family 33 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22243965 NCBI chr23:49,522,325...49,548,004
Ensembl chr23:49,523,852...49,547,904 		JBrowse link
G SLITRK6 SLIT and NTRK like family member 6 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:24033266 PMID:28492532 PMID:30311386 NCBI chr22:37,911,533...37,918,273
Ensembl chr22:37,912,612...37,925,177 		JBrowse link
G SMPX small muscle protein X-linked ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr  X:17,520,564...17,578,453
Ensembl chr  X:17,520,644...17,573,614 		JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: therapeutic RGD
CTD		 PMID:11474137 PMID:16055286 RGD:1581213 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815 		JBrowse link
G SOX10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:17999358 PMID:20127975 PMID:26467025 PMID:27240497 PMID:28492532 More... NCBI chr10:26,680,441...26,690,530
Ensembl chr10:26,681,122...26,689,882 		JBrowse link
G SPNS2 SPNS lysolipid transporter 2, sphingosine-1-phosphate ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr 5:30,494,355...30,527,669 JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20712533 NCBI chr37:1,513,438...1,549,837
Ensembl chr37:1,507,219...1,550,178 		JBrowse link
G STRC stereocilin ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:30311386 NCBI chr30:10,444,726...10,459,058
Ensembl chr30:10,444,793...10,460,785 		JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 4:58,699,069...58,738,677
Ensembl chr 4:58,699,069...58,738,681 		JBrowse link
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:11087000 PMID:12746400 PMID:17431902 PMID:21520338 PMID:24033266 More... NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147 		JBrowse link
G THBS1 thrombospondin 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 NCBI chr30:6,770,212...6,786,875
Ensembl chr30:6,769,470...6,784,915 		JBrowse link
G TJP2 tight junction protein 2 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 1:88,126,134...88,251,018
Ensembl chr 1:88,126,136...88,230,654 		JBrowse link
G TLR2 toll like receptor 2 susceptibility ISO associated with Meningitis,Bacterial; DNA:haplotype: :2477G>A(rs5743708)(human) RGD PMID:22662111 RGD:7800663 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241 		JBrowse link
G TLR4 toll like receptor 4 susceptibility ISO associated with Meningitis,Bacterial; DNA:SNP,haplotype: :896A>G(rs4986790)(human)
CTD Direct Evidence: marker/mechanism 		RGD
CTD		 PMID:21148032 PMID:22662111 RGD:7800663 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165 		JBrowse link
G TLR9 toll like receptor 9 ISO associated with Meningitis,Bacterial; DNA:SNP: :-1237T>C(rs5743836)(human) RGD PMID:22662111 RGD:7800663 NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114 		JBrowse link
G TMC1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: 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 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369 		JBrowse link
G TMIE transmembrane inner ear ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:28492532 More... NCBI chr20:42,052,607...42,061,424
Ensembl chr20:42,053,817...42,061,262 		JBrowse link
G TMPRSS3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:11137999 PMID:11424922 PMID:11462234 PMID:11907649 PMID:12920079 More... NCBI chr31:36,706,229...36,730,444
Ensembl chr31:36,707,723...36,730,520 		JBrowse link
G TNC tenascin C ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr11:69,077,532...69,169,673
Ensembl chr11:69,077,535...69,170,281 		JBrowse link
G TNF tumor necrosis factor ISO associated with Cytomegalovirus Infections;protein:increased expression:scala tympani: RGD PMID:22001951 RGD:7394702 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G TOGARAM2 TOG array regulator of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:20642360 PMID:38374469 NCBI chr17:22,829,957...22,913,565
Ensembl chr17:22,849,467...22,892,447 		JBrowse link
G TPRN taperin ISO 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
G TRIOBP TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:16385457 PMID:16385458 PMID:20510926 PMID:24033266 PMID:25741868 More... NCBI chr10:26,856,981...26,913,330
Ensembl chr10:26,857,678...26,911,083 		JBrowse link
G TSPEAR thrombospondin type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr31:38,273,306...38,340,525
Ensembl chr31:38,272,592...38,337,373 		JBrowse link
G TYR tyrosinase ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:1429711 PMID:1642278 PMID:1903591 PMID:5516239 PMID:9242509 More... NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191 		JBrowse link
G UCP2 uncoupling protein 2 ISO mRNA, protein:increased expression:cochlea (rat) RGD PMID:22543089 RGD:10045653 NCBI chr21:24,304,410...24,311,392
Ensembl chr21:24,304,457...24,311,128 		JBrowse link
G UCP3 uncoupling protein 3 ISO mRNA, protein:increased expression:cochlea (rat) RGD PMID:22543089 RGD:10045653 NCBI chr21:24,272,522...24,290,304
Ensembl chr21:24,277,896...24,288,639 		JBrowse link
G UNC45A unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:35575086 NCBI chr 3:53,294,628...53,307,759
Ensembl chr 3:53,295,197...53,309,067 		JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 More... NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430 		JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 PMID:25255398 PMID:25741868 PMID:27068579 PMID:27353947 More... NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900 		JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Hearing impairment
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:2564938 PMID:10729113 PMID:10909849 PMID:14970843 PMID:15015129 More... NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:11161832 PMID:11317350 PMID:12073007 PMID:15605410 PMID:22238590 More... NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827 		JBrowse link
G WHRN whirlin ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:20352026 PMID:22135276 PMID:23804846 PMID:24033266 PMID:25741868 More... NCBI chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977 		JBrowse link
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAT2 acetyl-CoA acetyltransferase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,011,665...49,029,368
Ensembl chr 1:49,011,706...49,029,327 		JBrowse link
G AGPAT4 1-acylglycerol-3-phosphate O-acyltransferase 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,709,437...49,837,848
Ensembl chr 1:49,709,741...49,837,091 		JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: MEGDEL syndrome ClinVar PMID:25741868 NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474 		JBrowse link
G DYNLT1 dynein light chain Tctex-type 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:48,058,804...48,066,389
Ensembl chr 1:48,058,804...48,066,609 		JBrowse link
G EZR ezrin ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:48,160,206...48,210,036
Ensembl chr 1:48,160,206...48,210,036 		JBrowse link
G FNDC1 fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:48,501,657...48,602,962
Ensembl chr 1:48,501,355...48,602,336 		JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:47,669,196...47,681,370
Ensembl chr 1:47,669,248...47,681,368 		JBrowse link
G IGF2R insulin like growth factor 2 receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,161,551...49,262,260
Ensembl chr 1:49,161,444...49,262,277 		JBrowse link
G MAP3K4 mitogen-activated protein kinase kinase kinase 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,590,615...49,702,289
Ensembl chr 1:49,548,274...49,702,289 		JBrowse link
G MAS1 MAS1 proto-oncogene, G protein-coupled receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,090,041...49,105,244
Ensembl chr 1:49,090,041...49,105,244 		JBrowse link
G MRPL18 mitochondrial ribosomal protein L18 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,038,814...49,043,667
Ensembl chr 1:49,038,871...49,043,501 		JBrowse link
G PLG plasminogen ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,497,229...49,535,260
Ensembl chr 1:49,497,229...49,535,260 		JBrowse link
G PNLDC1 PARN like ribonuclease domain containing exonuclease 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,045,153...49,063,008
Ensembl chr 1:49,044,979...49,062,802 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764 		JBrowse link
G RSPH3 radial spoke head 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:48,329,171...48,349,924
Ensembl chr 1:48,329,211...48,349,088 		JBrowse link
G SERAC1 serine active site containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | ClinVar Annotator: match by term: MEGDEL syndrome | ClinVar Annotator: match by term: SERAC1-related neurological disorder OMIM
ClinVar		 PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 More... NCBI chr 1:47,599,802...47,651,034
Ensembl chr 1:47,578,472...47,669,494 		JBrowse link
G SLC22A1 solute carrier family 22 member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,268,978...49,296,522 JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,327,621...49,348,435
Ensembl chr 1:49,327,296...49,348,435 		JBrowse link
G SLC22A3 solute carrier family 22 member 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,407,949...49,496,627
Ensembl chr 1:49,407,966...49,496,620 		JBrowse link
G SOD2 superoxide dismutase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		JBrowse link
G SYTL3 synaptotagmin like 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:48,066,449...48,159,980
Ensembl chr 1:48,067,612...48,159,936 		JBrowse link
G TAGAP T cell activation RhoGTPase activating protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:48,382,688...48,392,977
Ensembl chr 1:48,383,504...48,392,188 		JBrowse link
G TCP1 t-complex 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:49,029,260...49,038,023
Ensembl chr 1:49,029,282...49,038,020 		JBrowse link
G TMEM181 transmembrane protein 181 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:47,969,247...48,058,207
Ensembl chr 1:47,983,174...48,055,111 		JBrowse link
G TULP4 TUB like protein 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:47,727,642...47,952,818
Ensembl chr 1:47,791,993...47,951,710 		JBrowse link
G WTAP WT1 associated protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:48,976,523...49,004,536
Ensembl chr 1:48,976,499...49,003,961 		JBrowse link
aminoglycoside-induced deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY ClinVar PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 More... NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY ClinVar PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703 		JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: Aminoglycoside-induced deafness | ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of | ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY OMIM
ClinVar		 PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 More... NCBI chr10:19,841,813...19,859,514
Ensembl chr10:19,841,854...19,859,470 		JBrowse link
Arts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITX2 paired like homeodomain 2 ISO DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) RGD PMID:17701896 RGD:12910562 NCBI chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE OMIM
ClinVar		 PMID:1664177 PMID:3278127 PMID:6243137 PMID:7593598 PMID:8253776 More... NCBI chr  X:81,150,537...81,171,521
Ensembl chr  X:81,150,536...81,212,689 		JBrowse link
Athabaskan brainstem dysgenesis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXA1 homeobox A1 ISO ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: Navajo brainstem syndrome OMIM
ClinVar		 PMID:16155570 PMID:18412118 PMID:25741868 PMID:28492532 NCBI chr14:40,267,033...40,272,212
Ensembl chr14:40,267,528...40,269,681 		JBrowse link
G HOXA2 homeobox A2 ISO ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: Navajo brainstem syndrome ClinVar PMID:25741868 NCBI chr14:40,273,992...40,276,975
Ensembl chr14:40,274,469...40,276,239 		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 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr  X:101,275,027...101,307,551
Ensembl chr  X:101,275,017...101,307,367 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032 		JBrowse link
G CDH2 cadherin 2 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:28492532 NCBI chr 7:60,736,760...60,950,477
Ensembl chr 7:60,736,760...60,951,034 		JBrowse link
G DIAPH3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:25741868 PMID:28492532 NCBI chr22:15,573,485...16,078,580
Ensembl chr22:15,573,629...16,079,031 		JBrowse link
G FDXR ferredoxin reductase ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:25741868 PMID:28965846 PMID:29040572 NCBI chr 9:5,567,411...5,577,427
Ensembl chr 9:5,567,328...5,577,277 		JBrowse link
G KIF5A kinesin family member 5A ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr10:1,637,007...1,666,790
Ensembl chr10:1,636,932...1,664,767 		JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279 		JBrowse link
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224 		JBrowse link
G NOTCH3 notch receptor 3 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:25741868 NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr23:52,068,123...52,154,410
Ensembl chr23:52,068,118...52,151,593 		JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:18381613 PMID:19250381 PMID:22575033 PMID:25741868 PMID:26818607 More... NCBI chr17:20,518,480...20,619,713
Ensembl chr17:20,518,813...20,614,750 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr  X:101,311,752...101,322,825
Ensembl chr  X:101,312,611...101,322,689 		JBrowse link
G SLC52A3 solute carrier family 52 member 3 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:25741868 PMID:28492532 PMID:32579787 NCBI chr24:20,127,527...20,141,070
Ensembl chr24:20,127,520...20,156,003 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:30634948 NCBI chr  X:75,267,437...75,270,288
Ensembl chr  X:75,267,450...75,270,288 		JBrowse link
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165 		JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:30818899 NCBI chr28:13,672,772...13,680,732
Ensembl chr28:13,676,304...13,680,044 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:25741868 NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827 		JBrowse link
AURONEURODENTAL SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HYAL3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Auroneurodental syndrome ClinVar PMID:34805998 NCBI chr20:39,041,940...39,047,388
Ensembl chr20:39,042,070...39,047,365 		JBrowse link
G NAA80 N-alpha-acetyltransferase 80, NatH catalytic subunit ISO ClinVar Annotator: match by term: Auroneurodental syndrome ClinVar PMID:34805998 NCBI chr20:39,042,078...39,044,894 JBrowse link
autosomal dominant auditory neuropathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIAPH3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 | ClinVar Annotator: match by term: DIAPH3-related condition OMIM
ClinVar		 PMID:9536098 PMID:15520414 PMID:17576681 PMID:20624953 PMID:21220648 More... NCBI chr22:15,573,485...16,078,580
Ensembl chr22:15,573,629...16,079,031 		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 ISO OMIM NCBI chr22:60,302,098...60,431,070
Ensembl chr22:60,302,309...60,428,080 		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 ISO ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3 OMIM
ClinVar		 PMID:18230648 PMID:20435227 PMID:21214875 PMID:21270786 PMID:21391237 More... NCBI chr20:4,281,815...4,298,634
Ensembl chr20:4,281,845...4,297,069 		JBrowse link
autosomal dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy OMIM
ClinVar		 PMID:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:17576681 More... NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029 		JBrowse link
autosomal dominant congenital deafness with onychodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 ISO ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant OMIM
ClinVar		 PMID:24913193 PMID:25741868 PMID:28396750 PMID:30311386 PMID:31581539 More... NCBI chr25:36,833,246...36,858,846
Ensembl chr25:36,834,196...36,858,819 		JBrowse link
Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSPP dentin sialophosphoprotein ISO ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 OMIM
ClinVar		 PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 More... NCBI chr32:11,017,440...11,022,780 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 ClinVar Annotator: match by term: KID SYNDROME, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant OMIM
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289 		JBrowse link
autosomal dominant nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr 6:27,855,702...27,950,140
Ensembl chr 6:27,855,702...27,989,331 		JBrowse link
G ATOH1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Dominant progressive sensorineural hearing loss ClinVar PMID:25741868 PMID:33111345 NCBI chr32:16,807,217...16,809,294
Ensembl chr32:16,807,336...16,808,406 		JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr 6:47,425,387...47,622,189
Ensembl chr 6:47,425,307...47,621,012 		JBrowse link
G DIABLO diablo IAP-binding mitochondrial protein ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr26:7,125,320...7,144,884
Ensembl chr26:7,125,405...7,144,308 		JBrowse link
G GREB1L GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 PMID:32585897 NCBI chr 7:66,489,124...66,758,207
Ensembl chr 7:66,503,999...66,639,013 		JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr 7:44,662,800...44,828,405
Ensembl chr 7:44,663,182...44,826,858 		JBrowse link
G MITF melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578 		JBrowse link
G MYH14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:15015131 PMID:15845534 PMID:25741868 NCBI chr 1:106,371,952...106,460,388
Ensembl chr 1:106,371,939...106,458,901 		JBrowse link
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724 		JBrowse link
G P2RX2 purinergic receptor P2X 2 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:30311386 NCBI chr26:480,370...485,527
Ensembl chr26:482,425...485,502 		JBrowse link
G PDE1C phosphodiesterase 1C ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:29860631 NCBI chr14:44,250,612...44,543,818
Ensembl chr14:44,145,534...44,644,937 		JBrowse link
G PLS1 plastin 1 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing impairment | ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:30872814 PMID:31397523 NCBI chr23:38,243,631...38,347,195
Ensembl chr23:38,243,024...38,347,202 		JBrowse link
G REST RE1 silencing transcription factor ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 PMID:34828371 NCBI chr13:49,041,082...49,062,596
Ensembl chr13:49,041,047...49,059,388 		JBrowse link
G SIX1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr 8:35,676,705...35,679,534
Ensembl chr 8:35,676,479...35,679,534 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:11295831 PMID:12955714 PMID:16648378 PMID:17492394 PMID:17603484 More... NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827 		JBrowse link
autosomal dominant nonsyndromic deafness 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIAPH1 diaphanous related formin 1 ISO 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: KONIGSMARK SYNDROME OMIM
ClinVar		 PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr 2:36,483,781...36,581,390
Ensembl chr 2:36,485,571...36,581,320 		JBrowse link
G ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA ClinVar PMID:28492532 NCBI chr 2:34,763,814...34,773,491 JBrowse link
G EIF4EBP3 eukaryotic translation initiation factor 4E binding protein 3 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA ClinVar PMID:28492532 NCBI chr 2:35,742,811...35,744,749
Ensembl chr 2:35,618,282...35,744,734 		JBrowse link
autosomal dominant nonsyndromic deafness 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EYA4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: EYA4-Related Disorders OMIM
ClinVar		 PMID:11159937 PMID:16199547 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr 1:26,208,514...26,514,601
Ensembl chr 1:26,272,448...26,514,201 		JBrowse link
autosomal dominant nonsyndromic deafness 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO7A myosin VIIA ISO OMIM NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279 		JBrowse link
autosomal dominant nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 OMIM
ClinVar		 PMID:9536098 PMID:9590290 PMID:9949200 PMID:10196713 PMID:10987647 More... NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147 		JBrowse link
autosomal dominant nonsyndromic deafness 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A2 collagen type XI alpha 2 chain ISO OMIM NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814 		JBrowse link
autosomal dominant nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POU4F3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 52 | ClinVar Annotator: match by term: POU4F3-related condition OMIM
ClinVar		 PMID:9506947 PMID:12522684 PMID:14585957 PMID:18228599 PMID:19462854 More... NCBI chr 2:40,762,499...40,764,131
Ensembl chr 2:40,762,477...40,765,161 		JBrowse link
autosomal dominant nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STRC stereocilin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:22147502 PMID:24033266 PMID:25741868 PMID:26969326 NCBI chr30:10,444,726...10,459,058
Ensembl chr30:10,444,793...10,460,785 		JBrowse link
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 More... NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147 		JBrowse link
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 OMIM
ClinVar		 PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:10603121 More... NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953 		JBrowse link
autosomal dominant nonsyndromic deafness 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: ACTG1-related disorder OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:33604570 NCBI chr 9:635,978...638,328
Ensembl chr 9:635,978...638,328 		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 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 21 OMIM
ClinVar		 PMID:10764236 PMID:25741868 PMID:28492532 PMID:32631815 NCBI chr35:22,823,053...23,041,765
Ensembl chr35:22,824,106...23,041,743 		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 ISO ClinVar Annotator: match by term: DFNA 22 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:23,503,934...23,534,407
Ensembl chr19:23,375,363...23,534,303 		JBrowse link
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DFNA 22 OMIM
ClinVar		 PMID:9536098 PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 More... NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724 		JBrowse link
autosomal dominant nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SIX1 SIX homeobox 1 ISO OMIM NCBI chr 8:35,676,705...35,679,534
Ensembl chr 8:35,676,479...35,679,534 		JBrowse link
autosomal dominant nonsyndromic deafness 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC17A8 solute carrier family 17 member 8 ISO ClinVar Annotator: match by term: SLC17A8-related condition OMIM
ClinVar		 PMID:23967202 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:39,443,790...39,489,988
Ensembl chr15:39,443,518...39,486,595 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO OMIM:605583 MouseDO NCBI chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165 		JBrowse link
autosomal dominant nonsyndromic deafness 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G REST RE1 silencing transcription factor ISO 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 chr13:49,041,082...49,062,596
Ensembl chr13:49,041,047...49,059,388 		JBrowse link
autosomal dominant nonsyndromic deafness 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRHL2 grainyhead like transcription factor 2 ISO OMIM NCBI chr13:3,204,898...3,362,533
Ensembl chr13:3,204,925...3,362,096 		JBrowse link
autosomal dominant nonsyndromic deafness 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNQ4 potassium voltage-gated channel subfamily Q member 4 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: DFNA 2 Nonsyndromic Hearing Loss | ClinVar Annotator: match by term: Deafness, autosomal dominant 2A | ClinVar Annotator: match by term: KCNQ4-related condition OMIM
ClinVar		 PMID:8035838 PMID:9126484 PMID:9536098 PMID:10025409 PMID:10369879 More... NCBI chr15:2,203,938...2,257,152
Ensembl chr15:2,205,276...2,242,093 		JBrowse link
autosomal dominant nonsyndromic deafness 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB3 gap junction protein beta 3 ISO OMIM NCBI chr15:7,175,010...7,177,145 JBrowse link
autosomal dominant nonsyndromic deafness 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO3A myosin IIIA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 30 ClinVar PMID:32519820 NCBI chr 2:7,455,125...7,695,483
Ensembl chr 2:7,455,625...7,696,043 		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 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 33 ClinVar PMID:25741868 PMID:30311386 PMID:35278131 NCBI chr22:60,302,098...60,431,070
Ensembl chr22:60,302,309...60,428,080 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 33 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814 		JBrowse link
autosomal dominant nonsyndromic deafness 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP3 NLR family pyrin domain containing 3 ISO 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:12522564 More... NCBI chr 8:251,776...313,290
Ensembl chr 8:253,407...313,059 		JBrowse link
autosomal dominant nonsyndromic deafness 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: TMC1-related condition OMIM
ClinVar		 PMID:11850618 PMID:16199547 PMID:19187973 PMID:22105175 PMID:24033266 More... NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369 		JBrowse link
autosomal dominant nonsyndromic deafness 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A1 collagen type XI alpha 1 chain susceptibility ISO 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 6:47,425,387...47,622,189
Ensembl chr 6:47,425,307...47,621,012 		JBrowse link
autosomal dominant nonsyndromic deafness 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO OMIM NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289 		JBrowse link
autosomal dominant nonsyndromic deafness 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB6 gap junction protein beta 6 ISO OMIM NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605 		JBrowse link
autosomal dominant nonsyndromic deafness 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRYM crystallin mu ISO 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 chr 6:24,187,073...24,204,304
Ensembl chr 6:24,187,121...24,204,304 		JBrowse link
autosomal dominant nonsyndromic deafness 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P2RX2 purinergic receptor P2X 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 41 | ClinVar Annotator: match by term: P2RX2-related condition OMIM
ClinVar		 PMID:12161595 PMID:23345450 PMID:24033266 PMID:24211385 PMID:25741868 More... NCBI chr26:480,370...485,527
Ensembl chr26:482,425...485,502 		JBrowse link
autosomal dominant nonsyndromic deafness 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC50 coiled-coil domain containing 50 ISO ClinVar Annotator: match by term: CCDC50-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr34:23,168,594...23,243,221
Ensembl chr34:23,168,525...23,258,497 		JBrowse link
autosomal dominant nonsyndromic deafness 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO1A myosin IA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 48 ClinVar PMID:12736868 PMID:24033266 PMID:24616153 PMID:25741868 NCBI chr10:1,159,816...1,194,452
Ensembl chr10:1,159,812...1,193,153 		JBrowse link
autosomal dominant nonsyndromic deafness 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component ISO OMIM:600652 MouseDO NCBI chr 1:110,652,362...110,661,173
Ensembl chr 1:110,652,584...110,660,334 		JBrowse link
G MYH14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 4A | ClinVar Annotator: match by term: Deafness, autosomal dominant 4A | ClinVar Annotator: match by term: MYH14-related condition OMIM
ClinVar		 PMID:15015131 PMID:15845534 PMID:16222661 PMID:20533261 PMID:23967202 More... NCBI chr 1:106,371,952...106,460,388
Ensembl chr 1:106,371,939...106,458,901 		JBrowse link
autosomal dominant nonsyndromic deafness 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: CEACAM16-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:110,652,362...110,661,173
Ensembl chr 1:110,652,584...110,660,334 		JBrowse link
autosomal dominant nonsyndromic deafness 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSDME gasdermin E ISO ClinVar Annotator: match by term: GSDME-related condition OMIM
ClinVar		 PMID:7427029 PMID:15173223 PMID:17427029 PMID:24033266 PMID:25741868 More... NCBI chr14:38,210,975...38,286,729
Ensembl chr14:38,211,540...38,292,280 		JBrowse link
autosomal dominant nonsyndromic deafness 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR96 microRNA mir-96 ISO ClinVar Annotator: match by term: MIR96-related condition OMIM
ClinVar		 PMID:24033266 NCBI chr14:7,068,754...7,068,842
Ensembl chr14:7,068,754...7,068,842 		JBrowse link
autosomal dominant nonsyndromic deafness 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TJP2 tight junction protein 2 ISO ClinVar Annotator: match by term: CHROMOSOME 9q21.11 DUPLICATION SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar PMID:20602916 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 1:88,126,134...88,251,018
Ensembl chr 1:88,126,136...88,230,654 		JBrowse link
autosomal dominant nonsyndromic deafness 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAPPA pappalysin 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr11:69,979,295...70,220,256
Ensembl chr11:69,982,268...70,219,550 		JBrowse link
G TNC tenascin C ISO 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 chr11:69,077,532...69,169,673
Ensembl chr11:69,077,535...69,170,281 		JBrowse link
G TNFSF8 TNF superfamily member 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355 		JBrowse link
autosomal dominant nonsyndromic deafness 58 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNRIP1 cannabinoid receptor interacting protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr10:67,340,452...67,358,927
Ensembl chr10:67,340,604...67,357,360 		JBrowse link
G PLEK pleckstrin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr10:67,395,972...67,421,247
Ensembl chr10:67,395,972...67,421,247 		JBrowse link
G PPP3R1 protein phosphatase 3 regulatory subunit B, alpha ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr10:67,242,552...67,308,469
Ensembl chr10:67,244,329...67,275,487 		JBrowse link
autosomal dominant nonsyndromic deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38 OMIM
ClinVar		 PMID:1161832 PMID:3126496 PMID:3442652 PMID:3478949 PMID:9536098 More... NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827 		JBrowse link
autosomal dominant nonsyndromic deafness 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GNT4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 ISO ClinVar Annotator: match by term: DIABLO-related condition ClinVar PMID:24033266 PMID:28492532 NCBI chr26:7,145,120...7,147,732
Ensembl chr26:7,145,262...7,146,335 		JBrowse link
G DIABLO diablo IAP-binding mitochondrial protein ISO ClinVar Annotator: match by term: DIABLO-related condition OMIM
ClinVar		 PMID:24033266 PMID:28492532 NCBI chr26:7,125,320...7,144,884
Ensembl chr26:7,125,405...7,144,308 		JBrowse link
autosomal dominant nonsyndromic deafness 65 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNF cyclin F ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 65 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr 6:38,572,883...38,592,465
Ensembl chr 6:38,574,234...38,592,435 		JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 65 OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:22277662 PMID:23526554 PMID:23806086 More... NCBI chr 6:38,531,547...38,557,472 JBrowse link
autosomal dominant nonsyndromic deafness 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD164 CD164 molecule ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 66 | ClinVar Annotator: match by term: CD164-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:26197441 PMID:28492532 NCBI chr12:66,295,444...66,309,691
Ensembl chr12:66,297,248...66,310,186 		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 ISO OMIM:616340 MouseDO NCBI chr24:46,268,498...46,299,407 JBrowse link
autosomal dominant nonsyndromic deafness 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3H15orf40 chromosome 3 C15orf40 homolog ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 68 | ClinVar Annotator: match by term: HOMER2-related condition OMIM
ClinVar		 PMID:25741868 PMID:25816005 PMID:26467025 PMID:28492532 PMID:30047143 More... NCBI chr 3:54,788,092...54,793,197
Ensembl chr 3:54,657,075...54,794,206 		JBrowse link
autosomal dominant nonsyndromic deafness 69 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KITLG KIT ligand ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 69 | ClinVar Annotator: match by term: Deafness, autosomal dominant 69, unilateral or asymmetric OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:26522471 PMID:28492532 PMID:33229591 NCBI chr15:29,591,068...29,671,985
Ensembl chr15:29,591,170...29,671,974 		JBrowse link
autosomal dominant nonsyndromic deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMX1A LIM homeobox transcription factor 1 alpha ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 7 | ClinVar Annotator: match by term: LMX1A-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29754270 PMID:30311386 PMID:32840933 More... NCBI chr38:17,958,366...18,111,155
Ensembl chr38:17,956,961...18,109,049 		JBrowse link
autosomal dominant nonsyndromic deafness 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCM2 minichromosome maintenance complex component 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 70 | ClinVar Annotator: match by term: MCM2-related condition OMIM
ClinVar		 PMID:25741868 PMID:26196677 PMID:26467025 PMID:28492532 PMID:29706348 More... NCBI chr20:1,682,928...1,702,689
Ensembl chr20:1,682,886...1,702,366 		JBrowse link
autosomal dominant nonsyndromic deafness 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMXL2 Dmx like 2 ISO 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 chr30:17,156,077...17,308,641
Ensembl chr30:17,156,791...17,308,803 		JBrowse link
autosomal dominant nonsyndromic deafness 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC44A4 solute carrier family 44 member 4 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 72 | ClinVar Annotator: match by term: Deafness, autosomal dominant 72 | ClinVar Annotator: match by term: SLC44A4-related condition OMIM
ClinVar		 PMID:25741868 PMID:28013291 PMID:28492532 NCBI chr12:1,328,276...1,340,752
Ensembl chr12:1,328,399...1,340,778 		JBrowse link
autosomal dominant nonsyndromic deafness 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTPRQ protein tyrosine phosphatase receptor type Q ISO 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 OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:29309402 PMID:30311386 PMID:31655630 NCBI chr15:22,771,653...23,017,694
Ensembl chr15:22,825,348...23,013,762 		JBrowse link
autosomal dominant nonsyndromic deafness 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE1C phosphodiesterase 1C ISO 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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29860631 NCBI chr14:44,250,612...44,543,818
Ensembl chr14:44,145,534...44,644,937 		JBrowse link
autosomal dominant nonsyndromic deafness 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRRAP transformation/transcription domain associated protein ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 75 | ClinVar Annotator: match by term: Deafness, autosomal dominant 75 OMIM
ClinVar		 PMID:9708738 PMID:11418595 PMID:12138177 PMID:12660246 PMID:12743606 More... NCBI chr 6:10,519,734...10,635,175
Ensembl chr 6:10,519,711...10,632,776 		JBrowse link
autosomal dominant nonsyndromic deafness 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLS1 plastin 1 ISO 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 OMIM
ClinVar		 PMID:25124451 PMID:25741868 PMID:28492532 PMID:30872814 PMID:31397523 More... NCBI chr23:38,243,631...38,347,195
Ensembl chr23:38,243,024...38,347,202 		JBrowse link
autosomal dominant nonsyndromic deafness 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC1 ATP binding cassette subfamily C member 1 ISO 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 chr 6:27,855,702...27,950,140
Ensembl chr 6:27,855,702...27,989,331 		JBrowse link
autosomal dominant nonsyndromic deafness 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC12A2 solute carrier family 12 member 2 ISO 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 chr11:17,143,943...17,256,248
Ensembl chr11:17,143,943...17,253,695 		JBrowse link
autosomal dominant nonsyndromic deafness 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCD5 stearoyl-CoA desaturase 5 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 79 | ClinVar Annotator: match by term: Deafness, autosomal dominant 79 OMIM
ClinVar		 PMID:25741868 PMID:31972369 NCBI chr32:6,594,607...6,745,379
Ensembl chr32:6,595,424...6,745,308 		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 ISO 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 chr 7:66,489,124...66,758,207
Ensembl chr 7:66,503,999...66,639,013 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 80 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279 		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 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 81 | ClinVar Annotator: match by term: ELMOD3-related condition OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29713870 NCBI chr17:39,642,101...39,668,079
Ensembl chr17:39,643,676...39,665,726 		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 ISO ClinVar Annotator: match by term: ATP2B2-related Progressive hearing impairment | ClinVar Annotator: match by term: Deafness, autosomal dominant 82 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30535804 NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474 		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 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 83 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33268592 NCBI chr 2:55,175,000...55,258,160
Ensembl chr 2:55,174,837...55,253,975 		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 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 84 ClinVar
OMIM		 PMID:25741868 PMID:30311386 PMID:35278131 NCBI chr22:60,302,098...60,431,070
Ensembl chr22:60,302,309...60,428,080 		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 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 85 OMIM
ClinVar		 PMID:25741868 PMID:34059922 NCBI chr 2:77,401,101...77,484,139
Ensembl chr 2:77,379,440...77,484,089 		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 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 86 OMIM
ClinVar		 PMID:25741868 PMID:32776944 NCBI chr 7:67,082,100...67,136,592
Ensembl chr 7:67,082,231...67,136,525 		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 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 87 | ClinVar Annotator: match by term: PI4KB-related condition ClinVar
OMIM		 PMID:33358777 NCBI chr17:60,359,545...60,386,093
Ensembl chr17:60,360,236...60,384,778 		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 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 88 OMIM
ClinVar		 PMID:25741868 NCBI chr15:4,756,136...4,789,494 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 ISO ClinVar Annotator: match by term: ATOH1-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 89 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33111345 NCBI chr32:16,807,217...16,809,294
Ensembl chr32:16,807,336...16,808,406 		JBrowse link
autosomal dominant nonsyndromic deafness 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COCH cochlin ISO ClinVar Annotator: match by term: COCH-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:10,215,101...10,230,017
Ensembl chr 8:10,214,536...10,233,550 		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 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 90 OMIM
ClinVar		 PMID:25741868 PMID:26841241 PMID:28492532 PMID:29880844 PMID:34788109 NCBI chr 2:7,455,125...7,695,483
Ensembl chr 2:7,455,625...7,696,043 		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 ISO ClinVar Annotator: match by term: Wolfram-like disorder ClinVar PMID:25741868 PMID:28492532 PMID:33879837 NCBI chr18:9,801,350...9,920,401
Ensembl chr18:9,803,535...9,920,281 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION OMIM
ClinVar		 PMID:1161832 PMID:3126496 PMID:3478949 PMID:9536098 PMID:9771706 More... NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827 		JBrowse link
autosomal recessive nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:28492532 PMID:28951997 PMID:30303587 NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532 		JBrowse link
G ANAPC15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:25741868 NCBI chr21:25,971,680...25,975,556
Ensembl chr21:25,972,458...25,975,558 		JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 ISO OMIM:607197 MouseDO NCBI chr10:69,261,311...69,287,540
Ensembl chr10:69,252,926...69,287,542 		JBrowse link
G BSND barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:11734858 PMID:12574213 PMID:16328537 PMID:16572343 PMID:16935888 More... NCBI chr 5:54,225,393...54,239,305
Ensembl chr 5:54,225,389...54,237,110 		JBrowse link
G C4H10orf105 chromosome 4 C10orf105 homolog ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11090341 PMID:11138009 PMID:16679490 PMID:21940737 PMID:25741868 More... NCBI chr 4:22,472,365...22,478,931 JBrowse link
G CABP2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:9536098 PMID:17576681 PMID:22981119 PMID:25741868 PMID:28492532 More... NCBI chr18:49,960,656...49,963,889
Ensembl chr18:49,959,544...49,964,268 		JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:8894709 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 More... NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131 		JBrowse link
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30311386 NCBI chr 1:110,652,362...110,661,173
Ensembl chr 1:110,652,584...110,660,334 		JBrowse link
G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:23023331 PMID:24033266 PMID:25741868 PMID:26214305 PMID:26426422 More...
G CLCC1 chloride channel CLIC like 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr 6:42,807,432...42,829,317
Ensembl chr 6:42,807,064...42,829,273 		JBrowse link
G CLDN14 claudin 14 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11163249 PMID:15880785 PMID:22246673 PMID:25741868 PMID:30303587 More... NCBI chr31:31,677,410...31,725,794
Ensembl chr31:31,677,733...31,678,446 		JBrowse link
G CLIC5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr12:14,160,524...14,318,174
Ensembl chr12:14,144,390...14,318,582 		JBrowse link
G DYSF dysferlin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:28492532 NCBI chr17:51,011,197...51,228,969
Ensembl chr17:51,011,197...51,228,876 		JBrowse link
G EDNRB endothelin receptor type B ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:14633923 PMID:16944573 PMID:17554617 PMID:18162831 PMID:20127975 More... NCBI chr22:31,415,324...31,438,772
Ensembl chr22:31,417,308...31,437,587 		JBrowse link
G EPS8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:30303587 NCBI chr27:30,893,884...31,070,401
Ensembl chr27:30,893,713...31,069,770 		JBrowse link
G ESPN espin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676 		JBrowse link
G ESRRB estrogen related receptor beta ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:23967202 PMID:24033266 PMID:30303587 PMID:33524517 NCBI chr 8:49,253,877...49,424,148
Ensembl chr 8:49,253,332...49,421,332 		JBrowse link
G GIPC3 GIPC PDZ domain containing family member 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr20:55,833,876...55,837,621 JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:3 PMID:1511312 PMID:2104787 PMID:2706105 PMID:8789457 More... NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289 		JBrowse link
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10587579 NCBI chr15:7,175,010...7,177,145 JBrowse link
G GOSR2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:35802133 PMID:37074134 NCBI chr 9:10,201,625...10,220,688 JBrowse link
G GPR156 G protein-coupled receptor 156 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:37814107 NCBI chr33:23,720,883...23,804,289
Ensembl chr33:23,722,672...23,774,283 		JBrowse link
G GPSM2 G protein signaling modulator 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20602914 PMID:22578326 PMID:25741868 PMID:30303587 PMID:32747562 NCBI chr 6:42,828,611...42,878,334
Ensembl chr 6:42,824,455...42,868,690 		JBrowse link
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20137778 PMID:24033266 PMID:28492532 PMID:30303587 NCBI chr13:39,766,910...39,882,076
Ensembl chr13:39,766,919...39,882,086 		JBrowse link
G GRXCR2 glutaredoxin and cysteine rich domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr 2:40,310,285...40,330,200
Ensembl chr 2:40,315,807...40,328,240 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:15641023 PMID:21255762 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr33:25,207,537...25,238,071
Ensembl chr33:25,207,572...25,237,949 		JBrowse link
G KARS1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 PMID:30252186 More... NCBI chr 5:75,172,976...75,188,197
Ensembl chr 5:75,173,032...75,188,197 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:25741868 PMID:26467025 PMID:27171548 PMID:28492532 NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813 		JBrowse link
G LHFPL5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: 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 chr12:4,919,732...4,936,823
Ensembl chr12:4,902,832...4,936,413 		JBrowse link
G LOC106560171 transmembrane O-methyltransferase ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr21:25,975,547...25,981,097 JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16199547 PMID:19732867 PMID:21465660 PMID:24033266 PMID:25741868 More... NCBI chr 7:44,662,800...44,828,405
Ensembl chr 7:44,663,182...44,826,858 		JBrowse link
G LRTOMT leucine rich transmembrane and O-methyltransferase domain containing ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr21:25,987,687...26,000,545
Ensembl chr21:25,987,433...26,000,327 		JBrowse link
G MARVELD2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:24033266 PMID:30303587 NCBI chr 2:54,438,046...54,458,890
Ensembl chr 2:54,441,797...54,457,515 		JBrowse link
G MPZL2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:21270786 PMID:25741868 PMID:27981572 PMID:28492532 PMID:29961571 More... NCBI chr 5:15,446,803...15,458,667
Ensembl chr 5:15,447,104...15,458,515 		JBrowse link
G MSRB3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:19650862 PMID:21185009 PMID:25741868 PMID:30303587 NCBI chr10:7,892,745...8,040,196
Ensembl chr10:7,892,640...8,038,043 		JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953 		JBrowse link
G MYO15A myosin XVA ISO ClinVar Annotator: match by term: 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 chr 5:41,369,484...41,421,303
Ensembl chr 5:41,370,509...41,392,881 		JBrowse link
G MYO3A myosin IIIA ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:25741868 NCBI chr 2:7,455,125...7,695,483
Ensembl chr 2:7,455,625...7,696,043 		JBrowse link
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: 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 chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279 		JBrowse link
G OTOA otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:23173898 PMID:24033266 PMID:28492532 PMID:30303587 NCBI chr 6:23,106,650...23,175,159
Ensembl chr 6:23,106,804...23,168,380 		JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:12525542 PMID:14635104 PMID:18381613 PMID:19250381 PMID:19461658 More... NCBI chr17:20,518,480...20,619,713
Ensembl chr17:20,518,813...20,614,750 		JBrowse link
G OTOG otogelin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 PMID:30311386 NCBI chr21:40,103,163...40,193,680
Ensembl chr21:40,106,826...40,192,475 		JBrowse link
G OTOGL otogelin like ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr15:22,623,183...22,754,605
Ensembl chr15:22,556,295...22,753,956 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017 		JBrowse link
G PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:20440071 PMID:25741868 PMID:28492532 PMID:29048736 PMID:30311386 More... NCBI chr28:13,693,032...13,711,654
Ensembl chr28:13,693,023...13,711,784 		JBrowse link
G PJVK pejvakin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:17301963 PMID:17718875 PMID:19888295 PMID:21696384 PMID:24033266 More... NCBI chr36:22,080,574...22,087,537
Ensembl chr36:22,040,303...22,092,249 		JBrowse link
G POU4F3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 2:40,762,499...40,764,131
Ensembl chr 2:40,762,477...40,765,161 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr36:22,061,226...22,080,324
Ensembl chr36:22,061,461...22,080,612 		JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848 		JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:30303587 PMID:30311386 NCBI chr15:22,771,653...23,017,694
Ensembl chr15:22,825,348...23,013,762 		JBrowse link
G RDX radixin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 NCBI chr 5:22,555,913...22,642,822
Ensembl chr 5:22,571,286...22,642,811 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:9398842 PMID:9536098 PMID:9618166 PMID:9618167 PMID:10700480 More... NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212 		JBrowse link
G SLC26A5 solute carrier family 26 member 5 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr18:16,783,795...16,841,946
Ensembl chr18:16,788,759...16,839,940 		JBrowse link
G TECTA tectorin alpha ISO 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 chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147 		JBrowse link
G TMC1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11850618 PMID:16134132 PMID:16199547 PMID:17877751 PMID:18414213 More... NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369 		JBrowse link
G TMIE transmembrane inner ear ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:28492532 More... NCBI chr20:42,052,607...42,061,424
Ensembl chr20:42,053,817...42,061,262 		JBrowse link
G TMPRSS3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: 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 chr31:36,706,229...36,730,444
Ensembl chr31:36,707,723...36,730,520 		JBrowse link
G TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO OMIM:607197 MouseDO NCBI chr22:50,483,799...50,554,421
Ensembl chr22:50,485,190...50,555,587 		JBrowse link
G TOGARAM2 TOG array regulator of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:20642360 PMID:38374469 NCBI chr17:22,829,957...22,913,565
Ensembl chr17:22,849,467...22,892,447 		JBrowse link
G TPRN taperin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20170899 PMID:30303587
G TRIOBP TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16385457 PMID:16385458 PMID:20510926 PMID:24033266 PMID:25741868 More... NCBI chr10:26,856,981...26,913,330
Ensembl chr10:26,857,678...26,911,083 		JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 More... NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430 		JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:30303587 NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900 		JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 More... NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444 		JBrowse link
G WHRN whirlin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977 		JBrowse link
autosomal recessive nonsyndromic deafness 100 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 100 | ClinVar Annotator: match by term: PPIP5K2-related condition OMIM
ClinVar		 PMID:15538632 PMID:25741868 PMID:29590114 NCBI chr 3:8,013,879...8,083,177
Ensembl chr 3:8,002,012...8,087,684 		JBrowse link
autosomal recessive nonsyndromic deafness 101 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRXCR2 glutaredoxin and cysteine rich domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 101 | ClinVar Annotator: match by term: GRXCR2-related condition OMIM
ClinVar		 PMID:24619944 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr 2:40,310,285...40,330,200
Ensembl chr 2:40,315,807...40,328,240 		JBrowse link
autosomal recessive nonsyndromic deafness 102 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPS8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 102 | ClinVar Annotator: match by term: EPS8-related condition OMIM
ClinVar		 PMID:24033266 PMID:24741995 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr27:30,893,884...31,070,401
Ensembl chr27:30,893,713...31,069,770 		JBrowse link
autosomal recessive nonsyndromic deafness 103 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLIC5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: CLIC5-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 103 OMIM
ClinVar		 PMID:24033266 PMID:24781754 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr12:14,160,524...14,318,174
Ensembl chr12:14,144,390...14,318,582 		JBrowse link
autosomal recessive nonsyndromic deafness 104 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 104 ClinVar PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More... NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289 		JBrowse link
G RIPOR2 RHO family interacting cell polarization regulator 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 104 | ClinVar Annotator: match by term: RIPOR2-related condition OMIM
ClinVar		 PMID:24033266 PMID:24958875 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr35:22,823,053...23,041,765
Ensembl chr35:22,824,106...23,041,743 		JBrowse link
autosomal recessive nonsyndromic deafness 106 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPS8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 106 ClinVar PMID:25741868 PMID:28492532 NCBI chr27:30,893,884...31,070,401
Ensembl chr27:30,893,713...31,069,770 		JBrowse link
G EPS8L2 EPS8 signaling adaptor L2 ISO 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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26282398 PMID:28281779 More... NCBI chr18:25,741,166...25,755,310
Ensembl chr18:25,733,090...25,755,658 		JBrowse link
autosomal recessive nonsyndromic deafness 107 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WBP2 WW domain binding protein 2 ISO 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 chr 9:4,743,476...4,752,301
Ensembl chr 9:4,743,539...4,752,270 		JBrowse link
autosomal recessive nonsyndromic deafness 108 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ROR1 receptor tyrosine kinase like orphan receptor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 108 | ClinVar Annotator: match by term: ROR1-related condition OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:27162350 PMID:28492532 NCBI chr 5:46,010,097...46,477,882
Ensembl chr 5:46,013,195...46,190,880 		JBrowse link
autosomal recessive nonsyndromic deafness 109 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7B ATPase copper transporting beta ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 109 ClinVar PMID:8938442 PMID:9671269 PMID:9837819 PMID:10502777 PMID:11857545 More... NCBI chr22:162,474...225,599
Ensembl chr22:191,888...225,266 		JBrowse link
G ESRP1 epithelial splicing regulatory protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 109 | ClinVar Annotator: match by term: ESRP1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29107558 NCBI chr29:39,322,516...39,388,363
Ensembl chr29:39,333,117...39,387,337 		JBrowse link
autosomal recessive nonsyndromic deafness 110 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COCH cochlin ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 110 | ClinVar Annotator: match by term: Deafness, autosomal recessive 110 OMIM
ClinVar		 PMID:24033266 PMID:25230692 PMID:25741868 PMID:28492532 PMID:29449721 More... NCBI chr 8:10,215,101...10,230,017
Ensembl chr 8:10,214,536...10,233,550 		JBrowse link
autosomal recessive nonsyndromic deafness 111 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPZL2 myelin protein zero like 2 ISO 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:21270786 PMID:25741868 PMID:27981572 PMID:28492532 PMID:29961571 More... NCBI chr 5:15,446,803...15,458,667
Ensembl chr 5:15,447,104...15,458,515 		JBrowse link
autosomal recessive nonsyndromic deafness 112 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB ISO 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 OMIM
ClinVar		 PMID:24312468 PMID:25741868 PMID:26467025 NCBI chr 2:54,654,406...54,743,443
Ensembl chr 2:54,654,481...54,740,787 		JBrowse link
autosomal recessive nonsyndromic deafness 113 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 113 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29703829 More... NCBI chr 1:110,652,362...110,661,173
Ensembl chr 1:110,652,584...110,660,334 		JBrowse link
autosomal recessive nonsyndromic deafness 114 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRAP GRB2 related adaptor protein ISO ClinVar Annotator: match by term: Hearing loss, autosomal recessive 114 OMIM
ClinVar		 PMID:25741868 PMID:30610177 NCBI chr 5:41,014,193...41,038,965 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 ISO ClinVar Annotator: match by term: Hearing loss, autosomal recessive 115 | ClinVar Annotator: match by term: SPNS2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 5:30,494,355...30,527,669 JBrowse link
autosomal recessive nonsyndromic deafness 116 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN9 claudin 9 ISO 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 chr 6:38,172,035...38,174,089
Ensembl chr 6:38,172,550...38,173,203 		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 ISO ClinVar Annotator: match by term: CLRN2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 117 OMIM
ClinVar		 PMID:25741868 PMID:33496845 PMID:38243601 NCBI chr 3:62,958,242...62,967,878
Ensembl chr 3:62,959,224...62,967,994 		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 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 119 OMIM
ClinVar		 PMID:25741868 PMID:26138355 PMID:28492532 PMID:34626583 PMID:37902276 More... NCBI chr30:11,767,166...11,788,402
Ensembl chr30:11,767,064...11,788,398 		JBrowse link
autosomal recessive nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: ATP2B2-related condition | ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:15829536 PMID:22047666 PMID:25741868 PMID:26467025 PMID:27535533 More... NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474 		JBrowse link
G C4H10orf105 chromosome 4 C10orf105 homolog ISO ClinVar Annotator: match by term: ATP2B2-related disorder | 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 chr 4:22,472,365...22,478,931 JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12
ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12
ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 		OMIM
ClinVar		 PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131 		JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:24367894 PMID:25741868 NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289 		JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848 		JBrowse link
G VSIR V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:25741868 NCBI chr 4:22,504,888...22,530,702
Ensembl chr 4:22,459,363...22,530,687 		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 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 120 OMIM
ClinVar		 PMID:35727972 NCBI chr11:18,506,042...18,531,187
Ensembl chr11:18,507,059...18,524,589 		JBrowse link
G OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 120 ClinVar NCBI chr14:664,404...782,376 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 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 121 OMIM
ClinVar		 PMID:25741868 PMID:37814107 NCBI chr33:23,720,883...23,804,289
Ensembl chr33:23,722,672...23,774,283 		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 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 122 OMIM
ClinVar		 PMID:37943620 NCBI chr22:50,483,799...50,554,421
Ensembl chr22:50,485,190...50,555,587 		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 ISO OMIM NCBI chr 6:17,184,044...17,189,481
Ensembl chr 6:17,184,399...17,189,370 		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 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 124 ClinVar
OMIM		 PMID:38459354 NCBI chr13:9,925,047...10,073,054
Ensembl chr13:9,926,156...10,070,253 		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 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 125 OMIM
ClinVar		 PMID:33964205 NCBI chr21:44,277,996...44,406,210
Ensembl chr21:44,286,531...44,405,060 		JBrowse link
autosomal recessive nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GIPC3 GIPC PDZ domain containing family member 3 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95 | ClinVar Annotator: match by term: Deafness, autosomal recessive 15 | ClinVar Annotator: match by term: GIPC3-related condition OMIM
ClinVar		 PMID:9286457 PMID:17690910 PMID:21326233 PMID:21660509 PMID:23510777 More... NCBI chr20:55,833,876...55,837,621 JBrowse link
autosomal recessive nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CATSPER2 cation channel sperm associated 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:11687802 PMID:21681106 PMID:25741868 PMID:26011646 NCBI chr30:10,471,798...10,487,948
Ensembl chr30:10,471,814...10,487,739 		JBrowse link
G FRMD5 FERM domain containing 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr30:10,611,986...10,923,444
Ensembl chr30:10,614,406...10,923,261 		JBrowse link
G LOC478277 creatine kinase U-type, mitochondrial ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr30:10,438,566...10,444,532 JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr30:10,487,926...10,513,437
Ensembl chr30:10,487,921...10,513,397 		JBrowse link
G PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr30:10,383,733...10,436,423
Ensembl chr30:10,384,791...10,426,533 		JBrowse link
G STRC stereocilin ISO 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 OMIM
ClinVar		 PMID:11687802 PMID:18414213 PMID:21078986 PMID:21681106 PMID:22147502 More... NCBI chr30:10,444,726...10,459,058
Ensembl chr30:10,444,793...10,460,785 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18 | ClinVar Annotator: match by term: Deafness, autosomal recessive 18 ClinVar PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430 		JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900 		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 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 OMIM
ClinVar		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430 		JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 18A ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900 		JBrowse link
autosomal recessive nonsyndromic deafness 18B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTOG otogelin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 18b | ClinVar Annotator: match by term: OTOG-related condition OMIM
ClinVar		 PMID:9536098 PMID:10655058 PMID:16199547 PMID:17576681 PMID:23122587 More... NCBI chr21:40,103,163...40,193,680
Ensembl chr21:40,106,826...40,192,475 		JBrowse link
autosomal recessive nonsyndromic deafness 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRYL1 crystallin lambda 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
ClinVar Annotator: match by term: Deafness, 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 chr25:17,551,586...17,733,754
Ensembl chr25:17,562,926...17,733,630 		JBrowse link
G EEF1AKMT1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr25:17,357,251...17,382,098
Ensembl chr25:17,357,328...17,381,821 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:19894250 PMID:25741868 PMID:29572252 PMID:30820731 PMID:30871974 More... NCBI chr 2:47,502,777...47,559,012
Ensembl chr 2:47,503,762...47,558,889 		JBrowse link
G GJA3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr25:17,986,270...18,004,344
Ensembl chr25:18,002,817...18,004,160 		JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 OMIM
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289 		JBrowse link
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3 OMIM
ClinVar		 PMID:10798362 PMID:12791041 PMID:19050930 PMID:24033266 PMID:25741868 More... NCBI chr15:7,175,010...7,177,145 JBrowse link
G GJB4 gap junction protein beta 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532 NCBI chr15:7,193,183...7,195,586 JBrowse link
G GJB6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 OMIM
ClinVar		 PMID:10471490 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 More... NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605 		JBrowse link
G IFT88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr25:17,414,965...17,551,405
Ensembl chr25:17,414,965...17,551,266 		JBrowse link
G IL17D interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr25:17,386,815...17,390,315 JBrowse link
G XPO4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr25:17,230,401...17,352,600
Ensembl chr25:17,230,031...17,348,031 		JBrowse link
autosomal recessive nonsyndromic deafness 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRYL1 crystallin lambda 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr25:17,551,586...17,733,754
Ensembl chr25:17,562,926...17,733,630 		JBrowse link
G EEF1AKMT1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr25:17,357,251...17,382,098
Ensembl chr25:17,357,328...17,381,821 		JBrowse link
G GJA3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr25:17,986,270...18,004,344
Ensembl chr25:18,002,817...18,004,160 		JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:3 PMID:2706105 PMID:2956987 PMID:8789457 PMID:9139825 More... NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289 		JBrowse link
G GJB6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 1B | ClinVar Annotator: match by term: Deafness, autosomal recessive 1b OMIM
ClinVar		 PMID:10471490 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 More... NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605 		JBrowse link
G IFT88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr25:17,414,965...17,551,405
Ensembl chr25:17,414,965...17,551,266 		JBrowse link
G IL17D interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr25:17,386,815...17,390,315 JBrowse link
G XPO4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr25:17,230,401...17,352,600
Ensembl chr25:17,230,031...17,348,031 		JBrowse link
autosomal recessive nonsyndromic deafness 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 2 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2 OMIM
ClinVar		 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2 ClinVar PMID:10700480 PMID:11932316 PMID:14508505 PMID:16570074 PMID:16950989 More... NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212 		JBrowse link
autosomal recessive nonsyndromic deafness 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 21 | ClinVar Annotator: match by term: Deafness, neurosensory autosomal recessive 21 | ClinVar Annotator: match by term: TECTA-related condition OMIM
ClinVar		 PMID:9536098 PMID:9949200 PMID:11087000 PMID:12746400 PMID:17431902 More... NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147 		JBrowse link
autosomal recessive nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGSF6 immunoglobulin superfamily member 6 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr 6:23,185,442...23,195,432
Ensembl chr 6:23,185,461...23,194,787 		JBrowse link
G METTL9 methyltransferase 9, His-X-His N1(pi)-histidine ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr 6:23,182,800...23,230,288
Ensembl chr 6:23,183,103...23,230,262 		JBrowse link
G OTOA otoancorin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 22 | ClinVar Annotator: match by term: OTOA-related condition OMIM
ClinVar		 PMID:9536098 PMID:11972037 PMID:16199547 PMID:17576681 PMID:19888295 More... NCBI chr 6:23,106,650...23,175,159
Ensembl chr 6:23,106,804...23,168,380 		JBrowse link
G UQCRC2 ubiquinol-cytochrome c reductase core protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr 6:23,627,782...23,653,625
Ensembl chr 6:23,627,831...23,653,563 		JBrowse link
autosomal recessive nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCDH15 protocadherin related 15 ISO OMIM NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017 		JBrowse link
autosomal recessive nonsyndromic deafness 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RDX radixin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 24 | ClinVar Annotator: match by term: RDX-related condition OMIM
ClinVar		 PMID:17226784 PMID:19215054 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr 5:22,555,913...22,642,822
Ensembl chr 5:22,571,286...22,642,811 		JBrowse link
autosomal recessive nonsyndromic deafness 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 ISO ClinVar Annotator: match by term: GRXCR1-related condition OMIM
ClinVar		 PMID:20137774 PMID:20137778 PMID:24033266 PMID:25741868 PMID:26226137 More... NCBI chr13:39,766,910...39,882,076
Ensembl chr13:39,766,919...39,882,086 		JBrowse link
autosomal recessive nonsyndromic deafness 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GAB1 GRB2 associated binding protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 26 OMIM
ClinVar		 PMID:11101839 PMID:25741868 PMID:29408807 NCBI chr19:10,269...117,808
Ensembl chr19:12,616...156,694 		JBrowse link
autosomal recessive nonsyndromic deafness 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIO trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 28 ClinVar PMID:18452394 PMID:25741868 PMID:28492532 PMID:32109419 NCBI chr34:271,572...505,656
Ensembl chr34:272,290...505,636 		JBrowse link
G TRIOBP TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 28 | ClinVar Annotator: match by term: TRIOBP-related condition OMIM
ClinVar		 PMID:16199547 PMID:16385457 PMID:16385458 PMID:20510926 PMID:23967202 More... NCBI chr10:26,856,981...26,913,330
Ensembl chr10:26,857,678...26,911,083 		JBrowse link
autosomal recessive nonsyndromic deafness 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN14 claudin 14 ISO ClinVar Annotator: match by term: CLDN14-related condition OMIM
ClinVar		 PMID:22246673 PMID:23235333 PMID:23590985 PMID:24033266 PMID:25741868 More... NCBI chr31:31,677,410...31,725,794
Ensembl chr31:31,677,733...31,678,446 		JBrowse link
autosomal recessive nonsyndromic deafness 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COASY Coenzyme A synthase ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3 ClinVar PMID:28492532 NCBI chr 9:20,396,334...20,400,542
Ensembl chr 9:20,396,367...20,400,147 		JBrowse link
G KIFBP kinesin family binding protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:20,139,442...20,178,615
Ensembl chr 4:20,139,480...20,178,045 		JBrowse link
G MYO15A myosin XVA ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 | ClinVar Annotator: match by term: MYO15A-related condition | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3 OMIM
ClinVar		 PMID:2574186 PMID:7616538 PMID:7704031 PMID:9536098 PMID:9603736 More... NCBI chr 5:41,369,484...41,421,303
Ensembl chr 5:41,370,509...41,392,881 		JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 ClinVar PMID:25741868 NCBI chr17:20,518,480...20,619,713
Ensembl chr17:20,518,813...20,614,750 		JBrowse link
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3 ClinVar PMID:25008054 PMID:28492532 PMID:33111345 NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147 		JBrowse link
autosomal recessive nonsyndromic deafness 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO3A myosin IIIA ISO ClinVar Annotator: match by term: MYO3A-related condition OMIM
ClinVar		 PMID:12032315 PMID:16199547 PMID:23990876 PMID:24033266 PMID:25741868 More... NCBI chr 2:7,455,125...7,695,483
Ensembl chr 2:7,455,625...7,696,043 		JBrowse link
autosomal recessive nonsyndromic deafness 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WHRN whirlin ISO ClinVar Annotator: match by term: WHIRLER, MOUSE, HOMOLOG OF | ClinVar Annotator: match by term: WHRN-related condition OMIM
ClinVar		 PMID:9536098 PMID:11973626 PMID:12833159 PMID:15841483 PMID:16199547 More... NCBI chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977 		JBrowse link
autosomal recessive nonsyndromic deafness 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC14A cell division cycle 14A ISO ClinVar Annotator: match by term: CDC14A-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 105 | ClinVar Annotator: match by term: Deafness, autosomal recessive 32 OMIM
ClinVar		 PMID:12634867 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27259055 More... NCBI chr 6:49,429,675...49,678,376
Ensembl chr 6:49,497,939...49,693,665 		JBrowse link
autosomal recessive nonsyndromic deafness 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESRRB estrogen related receptor beta ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 35 | ClinVar Annotator: match by term: ESRRB-related condition OMIM
ClinVar		 PMID:12529709 PMID:16199547 PMID:18179891 PMID:22951369 PMID:23767834 More... NCBI chr 8:49,253,877...49,424,148
Ensembl chr 8:49,253,332...49,421,332 		JBrowse link
autosomal recessive nonsyndromic deafness 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESPN espin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 36 | ClinVar Annotator: match by term: Deafness, autosomal recessive 36, without vestibular involvement | ClinVar Annotator: match by term: Deafness, without vestibular involvement, autosomal dominant OMIM
ClinVar		 PMID:9763424 PMID:15286153 PMID:15930085 PMID:18973245 PMID:24033266 More... NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676 		JBrowse link
autosomal recessive nonsyndromic deafness 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO6 myosin VI ISO ClinVar Annotator: match by term: MYO6-related condition OMIM
ClinVar		 PMID:9536098 PMID:12687499 PMID:16199547 PMID:17576681 PMID:18212818 More... NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724 		JBrowse link
autosomal recessive nonsyndromic deafness 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HGF hepatocyte growth factor ISO ClinVar Annotator: match by term: HGF-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263 		JBrowse link
autosomal recessive nonsyndromic deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:33111345 NCBI chr 1:110,652,362...110,661,173
Ensembl chr 1:110,652,584...110,660,334 		JBrowse link
G FOXI1 forkhead box I1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: FOXI1-related condition OMIM
ClinVar		 PMID:17503324 PMID:20621367 PMID:20809947 PMID:22285650 PMID:24860705 More... NCBI chr 4:41,760,899...41,764,887
Ensembl chr 4:41,761,016...41,764,836 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | 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: KCNJ10-related disorder | 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: KCNJ10-related disorder | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder 		OMIM
ClinVar		 PMID:19289823 PMID:19426954 PMID:20651251 PMID:20678478 PMID:20807765 More... NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct ClinVar PMID:21465660 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26602028 More... NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | 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: FOXI1-related condition | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 		OMIM
ClinVar		 PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More... NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212 		JBrowse link
autosomal recessive nonsyndromic deafness 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ILDR1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: ILDR1-related condition OMIM
ClinVar		 PMID:21255762 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr33:25,207,537...25,238,071
Ensembl chr33:25,207,572...25,237,949 		JBrowse link
autosomal recessive nonsyndromic deafness 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY1 adenylate cyclase 1 ISO ClinVar Annotator: match by term: ADCY1-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 44 OMIM
ClinVar		 PMID:15583425 PMID:21270786 PMID:24033266 PMID:24482543 PMID:24824130 More... NCBI chr16:1,064,644...1,166,864
Ensembl chr16:1,037,162...1,167,094 		JBrowse link
autosomal recessive nonsyndromic deafness 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: CIB2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 48 OMIM
ClinVar		 PMID:2911222 PMID:23023331 PMID:24033266 PMID:25741868 PMID:26173970 More...
G SH2D7 SH2 domain containing 7 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 48 ClinVar PMID:25741868
autosomal recessive nonsyndromic deafness 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MARVELD2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Deafness, neurosensory, autosomal recessive 49 | ClinVar Annotator: match by term: MARVELD2-related condition OMIM
ClinVar		 PMID:16199547 PMID:17186462 PMID:18084694 PMID:22097895 PMID:23767834 More... NCBI chr 2:54,438,046...54,458,890
Ensembl chr 2:54,441,797...54,457,515 		JBrowse link
autosomal recessive nonsyndromic deafness 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A2 collagen type XI alpha 2 chain ISO OMIM NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814 		JBrowse link
autosomal recessive nonsyndromic deafness 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 57 | ClinVar Annotator: match by term: Deafness, autosomal recessive 57 OMIM
ClinVar		 PMID:16199547 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26416264 More... NCBI chr28:13,693,032...13,711,654
Ensembl chr28:13,693,023...13,711,784 		JBrowse link
autosomal recessive nonsyndromic deafness 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PJVK pejvakin ISO OMIM NCBI chr36:22,080,574...22,087,537
Ensembl chr36:22,040,303...22,092,249 		JBrowse link
autosomal recessive nonsyndromic deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMIE transmembrane inner ear ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 6 | ClinVar Annotator: match by term: TMIE-related condition OMIM
ClinVar		 PMID:8593615 PMID:12145746 PMID:16389551 PMID:19438934 PMID:24033266 More... NCBI chr20:42,052,607...42,061,424
Ensembl chr20:42,053,817...42,061,262 		JBrowse link
autosomal recessive nonsyndromic deafness 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC26A5 solute carrier family 26 member 5 ISO 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 chr18:16,783,795...16,841,946
Ensembl chr18:16,788,759...16,839,940 		JBrowse link
autosomal recessive nonsyndromic deafness 63 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 63 | ClinVar Annotator: match by term: LRTOMT-related condition ClinVar PMID:24033266 PMID:25741868 PMID:25788562 PMID:26467025 PMID:28492532 More... NCBI chr21:25,971,680...25,975,556
Ensembl chr21:25,972,458...25,975,558 		JBrowse link
G LOC106560171 transmembrane O-methyltransferase ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 63 | ClinVar Annotator: match by term: LRTOMT-related condition OMIM
ClinVar		 PMID:9536098 PMID:17211611 PMID:17576681 PMID:18794526 PMID:18953341 More... NCBI chr21:25,975,547...25,981,097 JBrowse link
G LRTOMT leucine rich transmembrane and O-methyltransferase domain containing ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 63 | ClinVar Annotator: match by term: LRTOMT-related condition ClinVar PMID:24033266 PMID:25741868 NCBI chr21:25,987,687...26,000,545
Ensembl chr21:25,987,433...26,000,327 		JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 63 ClinVar NCBI chr21:26,000,579...26,076,281
Ensembl chr21:26,037,095...26,075,549 		JBrowse link
autosomal recessive nonsyndromic deafness 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCDC2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 66 OMIM
ClinVar		 PMID:16199547 PMID:16244493 PMID:23677054 PMID:23746548 PMID:25557784 More... NCBI chr35:22,264,484...22,422,769
Ensembl chr35:22,266,282...22,422,776 		JBrowse link
autosomal recessive nonsyndromic deafness 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LHFPL5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 67 | ClinVar Annotator: match by term: LHFPL5-related condition OMIM
ClinVar		 PMID:16459341 PMID:16752389 PMID:24033266 PMID:25741868 PMID:27148795 More... NCBI chr12:4,919,732...4,936,823
Ensembl chr12:4,902,832...4,936,413 		JBrowse link
autosomal recessive nonsyndromic deafness 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G S1PR2 sphingosine-1-phosphate receptor 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 68 | ClinVar Annotator: match by term: S1PR2-related condition OMIM
ClinVar		 PMID:16703383 PMID:24033266 PMID:24824130 PMID:25741868 PMID:26467025 More... NCBI chr20:50,855,505...50,862,985
Ensembl chr20:50,860,591...50,861,649 		JBrowse link
autosomal recessive nonsyndromic deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPSM2 G protein signaling modulator 2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 ClinVar PMID:10449658 PMID:22578326 PMID:22987632 PMID:23208854 PMID:23494849 More... NCBI chr 6:42,828,611...42,878,334
Ensembl chr 6:42,824,455...42,868,690 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 7 ClinVar PMID:16449806 PMID:19461658 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279 		JBrowse link
G OTOA otoancorin ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 ClinVar PMID:35802133 PMID:36633841 NCBI chr 6:23,106,650...23,175,159
Ensembl chr 6:23,106,804...23,168,380 		JBrowse link
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 ClinVar NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147 		JBrowse link
G TMC1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 OMIM
ClinVar		 PMID:9536098 PMID:11850618 PMID:15605408 PMID:16134132 PMID:16199547 More... NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369 		JBrowse link
autosomal recessive nonsyndromic deafness 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPT1 polyribonucleotide nucleotidyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 70 OMIM
ClinVar		 PMID:11080643 PMID:23084290 PMID:23084291 PMID:24088041 PMID:25326635 More... NCBI chr10:56,478,771...56,520,992
Ensembl chr10:56,478,680...56,520,967 		JBrowse link
autosomal recessive nonsyndromic deafness 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSRB3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: MSRB3-related condition OMIM
ClinVar		 PMID:24033266 PMID:28492532 NCBI chr10:7,892,745...8,040,196
Ensembl chr10:7,892,640...8,038,043 		JBrowse link
autosomal recessive nonsyndromic deafness 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SYNE4 spectrin repeat containing nuclear envelope family member 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 76 | ClinVar Annotator: match by term: SYNE4-related condition | ClinVar Annotator: match by term: SYNE4-related hearing loss OMIM
ClinVar		 PMID:16199547 PMID:23348741 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 1:116,676,365...116,686,911
Ensembl chr 1:116,670,841...116,680,515 		JBrowse link
autosomal recessive nonsyndromic deafness 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 77 | ClinVar Annotator: match by term: LOXHD1-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16936105 PMID:17576681 PMID:19732867 More... NCBI chr 7:44,662,800...44,828,405
Ensembl chr 7:44,663,182...44,826,858 		JBrowse link
autosomal recessive nonsyndromic deafness 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TPRN taperin ISO ClinVar Annotator: match by term: TPRN-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532
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 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 10 ClinVar PMID:25741868 NCBI chr15:7,175,010...7,177,145 JBrowse link
G TMPRSS3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 10 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 8 | ClinVar Annotator: match by term: TMPRSS3-related condition OMIM
ClinVar		 PMID:3285355 PMID:3459936 PMID:9536098 PMID:11137999 PMID:11424922 More... NCBI chr31:36,706,229...36,730,444
Ensembl chr31:36,707,723...36,730,520 		JBrowse link
autosomal recessive nonsyndromic deafness 84A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 84A | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION OMIM
ClinVar		 PMID:20346435 PMID:25557914 PMID:25741868 PMID:26467025 PMID:29309402 More... NCBI chr15:22,771,653...23,017,694
Ensembl chr15:22,825,348...23,013,762 		JBrowse link
autosomal recessive nonsyndromic deafness 84B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTOGL otogelin like ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 84b | ClinVar Annotator: match by term: OTOGL-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23122586 PMID:23850727 More... NCBI chr15:22,623,183...22,754,605
Ensembl chr15:22,556,295...22,753,956 		JBrowse link
autosomal recessive nonsyndromic deafness 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNF cyclin F ISO ClinVar Annotator: match by term: Deafness , autosomal recessive 86 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr 6:38,572,883...38,592,465
Ensembl chr 6:38,574,234...38,592,435 		JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Deafness , autosomal recessive 86 | ClinVar Annotator: match by term: Deafness, autosomal recessive 86 OMIM
ClinVar		 PMID:22211675 PMID:22277662 PMID:23526554 PMID:24033266 PMID:24291220 More... NCBI chr 6:38,531,547...38,557,472 JBrowse link
autosomal recessive nonsyndromic deafness 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELMOD3 ELMO domain containing 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 88 OMIM
ClinVar		 PMID:24039609 PMID:25741868 PMID:28492532 NCBI chr17:39,642,101...39,668,079
Ensembl chr17:39,643,676...39,665,726 		JBrowse link
autosomal recessive nonsyndromic deafness 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KARS1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 89 OMIM
ClinVar		 PMID:21181198 PMID:21427441 PMID:23596069 PMID:23768514 PMID:24033266 More... NCBI chr 5:75,172,976...75,188,197
Ensembl chr 5:75,173,032...75,188,197 		JBrowse link
autosomal recessive nonsyndromic deafness 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:18381613 PMID:28492532 NCBI chr 4:3,348,529...3,415,275
Ensembl chr 4:3,348,449...3,415,273 		JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:101,275,027...101,307,551
Ensembl chr  X:101,275,017...101,307,367 		JBrowse link
G CEP135 centrosomal protein 135 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:28866084 NCBI chr13:48,202,649...48,280,995
Ensembl chr13:48,202,765...48,280,014 		JBrowse link
G COQ8A coenzyme Q8A ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 ClinVar PMID:24218524 PMID:25326637 PMID:26467025 PMID:28492532 PMID:32743982 More... NCBI chr 7:38,085,441...38,123,037
Ensembl chr 7:38,085,885...38,122,974 		JBrowse link
G DIAPH1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr 2:36,483,781...36,581,390
Ensembl chr 2:36,485,571...36,581,320 		JBrowse link
G H1-4 H1.4 linker histone, cluster member ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:25741868 PMID:28475857 PMID:29704315 PMID:31130284 PMID:31400068 More... NCBI chr35:24,091,950...24,092,694 JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr37:7,010,421...7,025,912 JBrowse link
G IGSF6 immunoglobulin superfamily member 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 6:23,185,442...23,195,432
Ensembl chr 6:23,185,461...23,194,787 		JBrowse link
G METTL9 methyltransferase 9, His-X-His N1(pi)-histidine ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 6:23,182,800...23,230,288
Ensembl chr 6:23,183,103...23,230,262 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr MT:13,582...14,109
Ensembl chr MT:13,582...14,109 		JBrowse link
G MYO15A myosin XVA ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 PMID:28492532 PMID:28964305 NCBI chr 5:41,369,484...41,421,303
Ensembl chr 5:41,370,509...41,392,881 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:26467025 PMID:28492532 PMID:29952689 PMID:30201499 PMID:33884488 More... NCBI chr23:52,068,123...52,154,410
Ensembl chr23:52,068,118...52,151,593 		JBrowse link
G OTOA otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 6:23,106,650...23,175,159
Ensembl chr 6:23,106,804...23,168,380 		JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder | ClinVar Annotator: match by term: Auditory neuropathy, autosomal recessive, 1 | ClinVar Annotator: match by term: Deafness, autosomal recessive 9 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 | ClinVar Annotator: match by term: OTOF-related condition OMIM
ClinVar		 PMID:8789454 PMID:9536098 PMID:9657592 PMID:10192385 PMID:10878664 More... NCBI chr17:20,518,480...20,619,713
Ensembl chr17:20,518,813...20,614,750 		JBrowse link
G PLP1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:77,191,112...77,207,772
Ensembl chr  X:77,191,150...77,205,964 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:101,311,752...101,322,825
Ensembl chr  X:101,312,611...101,322,689 		JBrowse link
G RAB9B RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:77,228,609...77,238,344
Ensembl chr  X:77,231,441...77,239,001 		JBrowse link
G RAI1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 PMID:27082237 PMID:28492532 NCBI chr 5:41,687,436...41,797,354
Ensembl chr 5:41,688,479...41,808,918 		JBrowse link
G SLC17A8 solute carrier family 17 member 8 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:27068579 PMID:28492532 NCBI chr15:39,443,790...39,489,988
Ensembl chr15:39,443,518...39,486,595 		JBrowse link
G SLC52A2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr13:37,779,896...37,786,653
Ensembl chr13:37,783,562...37,786,621 		JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr 6:38,531,547...38,557,472 JBrowse link
G TUBB4A tubulin beta 4A class IVa ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:24706558 PMID:24850488 PMID:24974158 PMID:25168210 PMID:25356970 More... NCBI chr20:53,697,643...53,702,671
Ensembl chr20:53,697,639...53,702,349 		JBrowse link
autosomal recessive nonsyndromic deafness 91 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINB6 serpin family B member 6 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 91 | ClinVar Annotator: match by term: SERPINB6-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20451170 PMID:24033266 PMID:25741868 More... NCBI chr35:3,234,694...3,245,726
Ensembl chr35:3,234,697...3,262,829 		JBrowse link
autosomal recessive nonsyndromic deafness 93 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CABP2 calcium binding protein 2 ISO ClinVar Annotator: match by term: CABP2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 93 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22981119 PMID:24033266 PMID:25741868 More... NCBI chr18:49,960,656...49,963,889
Ensembl chr18:49,959,544...49,964,268 		JBrowse link
autosomal recessive nonsyndromic deafness 94 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NARS2 asparaginyl-tRNA synthetase 2, mitochondrial ISO 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 chr21:20,277,707...20,413,624
Ensembl chr21:20,277,507...20,606,736 		JBrowse link
autosomal recessive nonsyndromic deafness 97 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 97 OMIM
ClinVar		 PMID:9563489 PMID:9731534 PMID:10327054 PMID:12920089 PMID:14559814 More... NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027 		JBrowse link
autosomal recessive nonsyndromic deafness 98 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TSPEAR thrombospondin type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 98 OMIM
ClinVar		 PMID:22678063 PMID:24033266 PMID:25741868 PMID:25855803 PMID:26467025 More... NCBI chr31:38,273,306...38,340,525
Ensembl chr31:38,272,592...38,337,373 		JBrowse link
autosomal recessive nonsyndromic deafness 99 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM132E transmembrane protein 132E ISO 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 OMIM
ClinVar		 PMID:12673573 PMID:25331638 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 9:38,671,687...38,688,875
Ensembl chr 9:38,671,711...38,682,209 		JBrowse link
autosomal recessive spinocerebellar ataxia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC9A1 solute carrier family 9 member A1 ISO ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome | ClinVar Annotator: match by term: SLC9A1-related condition OMIM
ClinVar		 PMID:25205112 PMID:25741868 PMID:28492532 PMID:30018422 NCBI chr 2:73,054,742...73,103,364
Ensembl chr 2:73,054,742...73,103,364 		JBrowse link
autosomal-mitochondrial sensorineural deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Deafness, sensorineural, autosomal-mitochondrial type ClinVar PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703 		JBrowse link
Ayme-Gripp syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAF MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Ayme-Gripp syndrome | ClinVar Annotator: match by term: MAF-related condition OMIM
ClinVar		 PMID:8834052 PMID:8867660 PMID:12072800 PMID:17935251 PMID:25064449 More... NCBI chr 5:71,965,291...71,982,903
Ensembl chr 5:71,965,500...71,981,735 		JBrowse link
Bart-Pumphrey syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Bart-Pumphrey syndrome OMIM
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289 		JBrowse link
Bartter disease type 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSND barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: BSND-related condition | ClinVar Annotator: match by term: Bartter disease type 4A OMIM
ClinVar		 PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... NCBI chr 5:54,225,393...54,239,305
Ensembl chr 5:54,225,389...54,237,110 		JBrowse link
Bartter disease type 4b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSND barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Infantile Bartter syndrome with sensorineural deafness ClinVar PMID:11687798 PMID:11734858 PMID:12574213 PMID:16328537 PMID:16572343 More... NCBI chr 5:54,225,393...54,239,305
Ensembl chr 5:54,225,389...54,237,110 		JBrowse link
G CLCNK chloride voltage-gated channel K ISO ClinVar Annotator: match by term: Bartter disease type 4B OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:81,612,382...81,627,742 JBrowse link
Behr syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Behr syndrome | ClinVar Annotator: match by term: OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES ClinVar
OMIM		 PMID:9490303 PMID:9536098 PMID:9917792 PMID:11017079 PMID:11440988 More... NCBI chr23:52,068,123...52,154,410
Ensembl chr23:52,068,118...52,151,593 		JBrowse link
Bilateral Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO3A myosin IIIA ISO DFNB30, OMIM:607101, DNA:point mutation:exon:Y1043X RGD PMID:12032315 RGD:1600555 NCBI chr 2:7,455,125...7,695,483
Ensembl chr 2:7,455,625...7,696,043 		JBrowse link
G NEFH neurofilament heavy chain disease_progression ISO RGD PMID:27457532 RGD:27372873 NCBI chr26:22,726,523...22,735,129
Ensembl chr26:22,726,526...22,735,125 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO associated with Enlarged Vestibular Aqueduct;DNA:missense mutation:cds:p.V138L (human) RGD PMID:19645628 RGD:7411669 NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212 		JBrowse link
Bjornstad syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Bjornstad syndrome with mild mitochondrial complex III deficiency | ClinVar Annotator: match by term: Pili torti-deafness syndrome OMIM
ClinVar		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr37:25,261,704...25,266,517
Ensembl chr37:25,264,012...25,266,516 		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 ISO ClinVar Annotator: match by term: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME | ClinVar Annotator: match by term: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome OMIM
ClinVar		 PMID:9536098 PMID:12002153 PMID:17576681 PMID:18414213 PMID:21658225 More... NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490 		JBrowse link
Brown-Vialetto-Van Laere syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC52A2 solute carrier family 52 member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:37,779,896...37,786,653
Ensembl chr13:37,783,562...37,786,621 		JBrowse link
G SLC52A3 solute carrier family 52 member 3 ISO ClinVar Annotator: match by term: PONTOBULBAR PALSY WITH DEAFNESS ClinVar PMID:22718020 PMID:24033266 PMID:25741868 PMID:26072523 PMID:27702554 More... NCBI chr24:20,127,527...20,141,070
Ensembl chr24:20,127,520...20,156,003 		JBrowse link
Brown-Vialetto-Van Laere syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSNK2A1 casein kinase 2 alpha 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chr24:20,333,593...20,390,341 JBrowse link
G RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chr24:20,423,378...20,440,985
Ensembl chr24:20,423,988...20,441,114 		JBrowse link
G SCRT2 scratch family transcriptional repressor 2 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532
G SLC52A2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:24253200 PMID:25741868 PMID:27148561 PMID:28492532 NCBI chr13:37,779,896...37,786,653
Ensembl chr13:37,783,562...37,786,621 		JBrowse link
G SLC52A3 solute carrier family 52 member 3 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 OMIM
ClinVar		 PMID:2020633 PMID:9536098 PMID:16122634 PMID:16199547 PMID:17576681 More... NCBI chr24:20,127,527...20,141,070
Ensembl chr24:20,127,520...20,156,003 		JBrowse link
G SRXN1 sulfiredoxin 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chr24:20,232,608...20,238,838
Ensembl chr24:20,232,607...20,237,154 		JBrowse link
G TBC1D20 TBC1 domain family member 20 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chr24:20,400,647...20,419,652
Ensembl chr24:20,400,791...20,419,655 		JBrowse link
G TCF15 transcription factor 15 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chr24:20,274,113...20,281,081
Ensembl chr24:20,274,050...20,280,270 		JBrowse link
Brown-Vialetto-Van Laere syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCK5 aarF domain containing kinase 5 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,800,562...37,817,449
Ensembl chr13:37,799,956...37,818,256 		JBrowse link
G BOP1 BOP1 ribosomal biogenesis factor ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,698,635...37,723,803
Ensembl chr13:37,698,698...37,724,457 		JBrowse link
G CCDC166 coiled-coil domain containing 166 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,303,107...37,304,843
Ensembl chr13:37,303,254...37,304,649 		JBrowse link
G CPSF1 cleavage and polyadenylation specific factor 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,817,440...37,827,868
Ensembl chr13:37,817,442...37,825,212 		JBrowse link
G CYC1 cytochrome c1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,590,919...37,593,239
Ensembl chr13:37,590,912...37,593,156 		JBrowse link
G CYHR1 cysteine and histidine rich 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,860,452...37,871,982
Ensembl chr13:37,858,424...37,874,624 		JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,745,395...37,761,337
Ensembl chr13:37,741,706...37,756,916 		JBrowse link
G EEF1D eukaryotic translation elongation factor 1 delta ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,240,405...37,247,603
Ensembl chr13:37,239,150...37,255,958 		JBrowse link
G EPPK1 epiplakin 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,401,099...37,410,739 JBrowse link
G EXOSC4 exosome component 4 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,574,359...37,576,331
Ensembl chr13:37,574,527...37,577,380 		JBrowse link
G FAM83H family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,324,090...37,332,421
Ensembl chr13:37,325,548...37,336,834 		JBrowse link
G FBXL6 F-box and leucine rich repeat protein 6 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,780,991...37,783,976
Ensembl chr13:37,780,974...37,785,045 		JBrowse link
G FOXH1 forkhead box H1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,883,554...37,887,324
Ensembl chr13:37,882,687...37,885,319 		JBrowse link
G GFUS GDP-L-fucose synthase ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,267,119...37,272,101
Ensembl chr13:37,267,122...37,271,967 		JBrowse link
G GLI4 GLI family zinc finger 4 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,029,553...37,035,429
Ensembl chr13:37,028,512...37,035,454 		JBrowse link
G GPAA1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,577,162...37,580,346
Ensembl chr13:37,576,354...37,580,345 		JBrowse link
G GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,005,499...37,007,214
Ensembl chr13:37,005,512...37,007,074 		JBrowse link
G GRINA glutamate ionotropic receptor NMDA type subunit associated protein 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,512,129...37,514,303
Ensembl chr13:37,512,217...37,514,257 		JBrowse link
G GSDMD gasdermin D ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,221,219...37,226,912
Ensembl chr13:37,193,022...37,228,360 		JBrowse link
G HGH1 HGH1 homolog ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,621,587...37,624,523
Ensembl chr13:37,621,605...37,623,973 		JBrowse link
G HSF1 heat shock transcription factor 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,724,741...37,745,259
Ensembl chr13:37,724,759...37,745,252 		JBrowse link
G KIFC2 kinesin family member C2 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,875,611...37,883,166
Ensembl chr13:37,875,998...37,882,974 		JBrowse link
G MAF1 MAF1 homolog, negative regulator of RNA polymerase III ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,598,819...37,601,713
Ensembl chr13:37,598,600...37,601,591 		JBrowse link
G MAFA MAF bZIP transcription factor A ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,122,653...37,123,895
Ensembl chr13:37,122,731...37,123,771 		JBrowse link
G MAPK15 mitogen-activated protein kinase 15 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,317,061...37,322,792
Ensembl chr13:37,316,424...37,322,792 		JBrowse link
G MROH1 maestro heat like repeat family member 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,645,810...37,698,550
Ensembl chr13:37,645,876...37,698,342 		JBrowse link
G MROH6 maestro heat like repeat family member 6 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,229,270...37,234,677
Ensembl chr13:37,229,886...37,234,609 		JBrowse link
G NAPRT nicotinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,235,985...37,239,261
Ensembl chr13:37,235,045...37,239,224 		JBrowse link
G NRBP2 nuclear receptor binding protein 2 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,391,385...37,398,691
Ensembl chr13:37,392,436...37,398,076 		JBrowse link
G OPLAH 5-oxoprolinase, ATP-hydrolysing ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,555,035...37,564,241
Ensembl chr13:37,555,045...37,564,810 		JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,449,379...37,503,752
Ensembl chr13:37,450,248...37,513,523 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,375,781...37,387,969
Ensembl chr13:37,375,651...37,387,875 		JBrowse link
G PYCR3 pyrroline-5-carboxylate reductase 3 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,259,139...37,264,337
Ensembl chr13:37,259,139...37,264,337 		JBrowse link
G RHPN1 rhophilin Rho GTPase binding protein 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,081,527...37,090,628
Ensembl chr13:37,046,923...37,090,922 		JBrowse link
G SCRIB scribble planar cell polarity protein ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,356,405...37,374,765
Ensembl chr13:37,356,405...37,374,681 		JBrowse link
G SCRT1 scratch family transcriptional repressor 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...
G SCX scleraxis bHLH transcription factor ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,701,781...37,704,949
Ensembl chr13:37,703,232...37,704,657 		JBrowse link
G SHARPIN SHANK associated RH domain interactor ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,594,155...37,598,510
Ensembl chr13:37,594,203...37,599,456 		JBrowse link
G SLC39A4 solute carrier family 39 member 4 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,833,073...37,838,304
Ensembl chr13:37,833,156...37,838,522 		JBrowse link
G SLC52A2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 | ClinVar Annotator: match by term: Riboflavin transporter deficiency type 2 OMIM
ClinVar		 PMID:9536098 PMID:10797435 PMID:11175288 PMID:16199547 PMID:17576681 More... NCBI chr13:37,779,896...37,786,653
Ensembl chr13:37,783,562...37,786,621 		JBrowse link
G SPATC1 spermatogenesis and centriole associated 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,530,211...37,550,797 JBrowse link
G TIGD5 tigger transposable element derived 5 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,254,327...37,258,521
Ensembl chr13:37,254,327...37,256,279 		JBrowse link
G TMEM249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,778,698...37,780,774
Ensembl chr13:37,778,730...37,780,385 		JBrowse link
G TONSL tonsoku like, DNA repair protein ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,846,010...37,857,633
Ensembl chr13:37,846,149...37,857,668 		JBrowse link
G VPS28 VPS28 subunit of ESCRT-I ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,841,524...37,845,954
Ensembl chr13:37,841,518...37,846,339 		JBrowse link
G ZC3H3 zinc finger CCCH-type containing 3 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,128,915...37,214,643
Ensembl chr13:37,130,999...37,214,997 		JBrowse link
G ZFP41 ZFP41 zinc finger protein ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,015,733...37,027,459 JBrowse link
G ZNF623 zinc finger protein 623 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,280,457...37,291,676
Ensembl chr13:37,287,946...37,289,442 		JBrowse link
G ZNF696 zinc finger protein 696 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chr13:37,047,297...37,067,493
Ensembl chr13:37,046,923...37,090,922 		JBrowse link
Burn-McKeown syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADNP2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:600,804...635,013
Ensembl chr 1:602,264...635,348 		JBrowse link
G ATP9B ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:1,136,862...1,374,102
Ensembl chr 1:1,136,865...1,374,514 		JBrowse link
G CTDP1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:886,973...945,994
Ensembl chr 1:762,020...946,142 		JBrowse link
G GALR1 galanin receptor 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:2,750,117...2,785,329
Ensembl chr 1:2,729,331...2,742,231
Ensembl chr 1:2,729,331...2,742,231 		JBrowse link
G HSBP1L1 heat shock factor binding protein 1 like 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:743,321...747,401
Ensembl chr 1:744,458...747,200 		JBrowse link
G KCNG2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:805,892...866,031 JBrowse link
G MBP myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:2,841,801...2,952,553
Ensembl chr 1:2,846,589...2,951,860 		JBrowse link
G MEA1 male-enhanced antigen 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:18414213 PMID:25434003 PMID:25533962 PMID:25741868 PMID:25741882 More... NCBI chr12:11,540,543...11,542,341
Ensembl chr12:11,540,547...11,542,411 		JBrowse link
G NFATC1 nuclear factor of activated T cells 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:1,027,021...1,121,362
Ensembl chr 1:1,028,695...1,121,588 		JBrowse link
G PARD6G par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:478,310...567,728
Ensembl chr 1:497,071...565,905 		JBrowse link
G PPP2R5D protein phosphatase 2 regulatory subunit B'delta ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:18414213 PMID:25434003 PMID:25533962 PMID:25741868 PMID:25741882 More... NCBI chr12:11,519,194...11,540,658
Ensembl chr12:11,519,092...11,540,109 		JBrowse link
G RBFA ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:692,870...722,681 JBrowse link
G SALL3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:1,413,991...1,421,516
Ensembl chr 1:1,416,390...1,435,326 		JBrowse link
G SLC66A2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:758,456...801,227
Ensembl chr 1:757,856...802,373 		JBrowse link
G TXNL4A thioredoxin like 4A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome | ClinVar Annotator: match by term: TXNL4A-related condition OMIM
ClinVar		 PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More... NCBI chr 1:722,223...735,253
Ensembl chr 1:722,293...735,258 		JBrowse link
G ZNF236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:2,959,113...3,062,349
Ensembl chr 1:2,961,498...3,061,984 		JBrowse link
G ZNF516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:3,275,255...3,400,761
Ensembl chr 1:3,274,993...3,492,201 		JBrowse link
camptodactyly-tall stature-scoliosis-hearing loss syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR3 fibroblast growth factor receptor 3 ISO 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 OMIM
ClinVar		 PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896 		JBrowse link
CAPOS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss OMIM
ClinVar		 PMID:8733056 PMID:15260953 PMID:18414213 PMID:18675996 PMID:19652145 More... NCBI chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916 		JBrowse link
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial ISO 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 chr38:14,864,004...14,925,684
Ensembl chr38:14,863,998...14,925,635 		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 ISO ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 ClinVar
OMIM		 PMID:32554502 NCBI chr  X:122,838,787...122,850,870
Ensembl chr  X:122,838,645...122,850,884 		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 ISO ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 ClinVar
OMIM		 PMID:32554502 NCBI chr30:766,801...767,615
Ensembl chr30:766,853...767,613 		JBrowse link
Charcot-Marie-Tooth disease type 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, MENTAL RETARDATION, AND ABSENT SENSORY LARGE MYELINATED FIBERS ClinVar PMID:12402337 PMID:15241803 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:55,565,995...55,575,332
Ensembl chr  X:55,573,808...55,574,659 		JBrowse link
G LOC487015 myelin P2 protein ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1E ClinVar PMID:25741868 NCBI chr29:28,619,027...28,625,677
Ensembl chr29:28,622,033...28,625,586 		JBrowse link
G LOC489516 heparan sulfate glucosamine 3-O-sulfotransferase 3B1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1E ClinVar PMID:20493460 PMID:25741868 PMID:32719652 NCBI chr 5:38,023,858...38,066,548
Ensembl chr 5:38,023,684...38,065,487 		JBrowse link
G PMP22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease and deafness | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1E OMIM
ClinVar		 PMID:7139106 PMID:7649472 PMID:7829101 PMID:8252046 PMID:8988161 More... NCBI chr 5:38,806,731...38,839,002
Ensembl chr 5:38,807,826...38,838,971 		JBrowse link
G TEKT3 tektin 3 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1E ClinVar PMID:20493460 PMID:25741868 PMID:32719652 NCBI chr 5:38,872,664...38,913,114
Ensembl chr 5:38,872,665...38,912,497 		JBrowse link
Charcot-Marie-Tooth disease type 2J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities OMIM
ClinVar		 PMID:8816708 PMID:9452091 PMID:10071056 PMID:10329755 PMID:10764043 More... NCBI chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451 		JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 OMIM
ClinVar		 PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 More... NCBI chr  X:101,275,027...101,307,551
Ensembl chr  X:101,275,017...101,307,367 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 ClinVar PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 More... NCBI chr  X:101,311,752...101,322,825
Ensembl chr  X:101,312,611...101,322,689 		JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: ROSENBERG-CHUTORIAN SYNDROME OMIM
ClinVar		 PMID:3278127 PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 More... NCBI chr  X:81,150,537...81,171,521
Ensembl chr  X:81,150,536...81,212,689 		JBrowse link
CHIME syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIGL phosphatidylinositol glycan anchor biosynthesis class L ISO 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 OMIM
ClinVar		 PMID:3041916 PMID:7666399 PMID:8893234 PMID:11438011 PMID:16199547 More... NCBI chr 5:39,601,288...39,687,125
Ensembl chr 5:39,601,291...39,686,908 		JBrowse link
Chudley-Mccullough syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCC1 chloride channel CLIC like 1 ISO ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: GPSM2-Related Disorders ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:42,807,432...42,829,317
Ensembl chr 6:42,807,064...42,829,273 		JBrowse link
G GPSM2 G protein signaling modulator 2 ISO ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: Deafness, autosomal recessive 82 | ClinVar Annotator: match by term: Deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts | ClinVar Annotator: match by term: GPSM2-Related Disorders OMIM
ClinVar		 PMID:9536098 PMID:10449658 PMID:17576681 PMID:20602914 PMID:21348867 More... NCBI chr 6:42,828,611...42,878,334
Ensembl chr 6:42,824,455...42,868,690 		JBrowse link
G SPTB spectrin beta, erythrocytic ISO ClinVar Annotator: match by term: Chudley-McCullough syndrome ClinVar PMID:1391962 PMID:1498324 PMID:8844207 PMID:25741868 PMID:26830532 More... NCBI chr 8:39,156,388...39,300,908
Ensembl chr 8:39,158,795...39,221,193 		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 ISO ClinVar Annotator: match by term: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome ClinVar PMID:25741868 NCBI chr20:39,029,426...39,034,451
Ensembl chr20:39,031,735...39,034,130 		JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MITF melanocyte inducing transcription factor ISO 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 chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578 		JBrowse link
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 ISO 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 chr22:46,323,263...46,402,240
Ensembl chr22:46,307,905...46,398,625 		JBrowse link
G DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ClinVar PMID:2256350 PMID:22563501 PMID:24220513 PMID:32214227 PMID:33983693 NCBI chr 5:44,882,111...45,021,152
Ensembl chr 5:44,884,283...45,120,203 		JBrowse link
G MAFA MAF bZIP transcription factor A ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ClinVar PMID:25741868 NCBI chr13:37,122,653...37,123,895
Ensembl chr13:37,122,731...37,123,771 		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 ISO ClinVar Annotator: match by term: Non-acquired combined pituitary hormone deficiency ClinVar PMID:25741868 PMID:29329447 PMID:30414530 PMID:33729509 PMID:33999151 NCBI chr24:1,010,370...1,013,791
Ensembl chr24:1,010,651...1,013,072 		JBrowse link
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: LHX3-related condition | ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome OMIM
ClinVar		 PMID:10835633 PMID:12780757 PMID:16199547 PMID:16394081 PMID:16940453 More... NCBI chr 9:49,248,555...49,254,128
Ensembl chr 9:49,248,621...49,254,118 		JBrowse link
Conductive Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EYA1 EYA transcriptional coactivator and phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10471511 NCBI chr29:20,176,306...20,595,131
Ensembl chr29:20,177,014...20,525,653 		JBrowse link
G NOG noggin ISO RGD PMID:18096605 RGD:12801451 NCBI chr 9:31,453,604...31,456,060 JBrowse link
G TBX1 T-box transcription factor 1 ISO DNA:missense mutation:CDS:p.W118R (mouse) RGD PMID:28105375 RGD:155663349 NCBI chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784 		JBrowse link
Cone-Rod Dystrophy and Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP78 centrosomal protein 78 ISO 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 1:80,437,902...80,469,383
Ensembl chr 1:80,438,695...80,469,350 		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 ISO ClinVar Annotator: match by term: CEP78-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 1 OMIM
ClinVar		 PMID:3196484 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 1:80,437,902...80,469,383
Ensembl chr 1:80,438,695...80,469,350 		JBrowse link
Cone-Rod Dystrophy and Hearing Loss 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP250 centrosomal protein 250 ISO 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:16199547 PMID:17576681 PMID:24780881 PMID:25741868 More... NCBI chr24:24,411,882...24,461,916
Ensembl chr24:24,418,859...24,461,640 		JBrowse link
Congenital Cataracts, Hearing Loss, and Neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC33A1 solute carrier family 33 member 1 ISO 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 chr23:49,522,325...49,548,004
Ensembl chr23:49,523,852...49,547,904 		JBrowse link
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF3 fibroblast growth factor 3 ISO ClinVar Annotator: match by term: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia | ClinVar Annotator: match by term: DEAFNESS WITH LAMM OMIM
ClinVar		 PMID:17236138 PMID:18435799 PMID:18701883 PMID:19950373 PMID:21306635 More... NCBI chr18:48,382,819...48,388,453
Ensembl chr18:48,383,222...48,389,009 		JBrowse link
Congenital Myopathy with Neuropathy and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITGB4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Myopathy, congenital, with neuropathy and deafness ClinVar PMID:25741868 NCBI chr 9:4,825,148...4,855,266
Ensembl chr 9:4,825,292...4,855,820 		JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Myopathy, congenital, with neuropathy and deafness | ClinVar Annotator: match by term: SPTBN4-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28540413 PMID:29861105 PMID:34440880 NCBI chr 1:113,167,251...113,243,071
Ensembl chr 1:113,168,484...113,240,934 		JBrowse link
corneal dystrophy-perceptive deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC4A11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Corneal dystrophy and sensorineural deafness | ClinVar Annotator: match by term: Corneal dystrophy-perceptive deafness syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16767101 PMID:16825429 PMID:17220209 More... NCBI chr24:18,057,437...18,068,420
Ensembl chr24:18,057,517...18,068,425 		JBrowse link
craniofacial-deafness-hand syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAX3 paired box 3 ISO ClinVar Annotator: match by term: Craniofacial-deafness-hand syndrome OMIM
ClinVar		 PMID:6859126 PMID:8589691 PMID:8664898 PMID:8863157 PMID:9584079 More... NCBI chr37:28,346,476...28,443,648
Ensembl chr37:28,346,563...28,444,561 		JBrowse link
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness ClinVar PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279 		JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B ISO 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 chr13:1,101,226...1,834,933
Ensembl chr13:1,101,610...1,871,225 		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 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868
G PITX2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273 		JBrowse link
Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AK2 adenylate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19043416 NCBI chr 2:68,342,769...68,371,769
Ensembl chr 2:68,350,057...68,371,090 		JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:11406631 RGD:734598 NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089 		JBrowse link
G BDNF brain derived neurotrophic factor treatment ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:18607918 PMID:19365690 PMID:21452221 PMID:23150788 RGD:8639313 RGD:8655576 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480 		JBrowse link
G BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB ISO ClinVar Annotator: match by term: Deafness ClinVar NCBI chr 2:54,654,406...54,743,443
Ensembl chr 2:54,654,481...54,740,787 		JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:10929716 PMID:15357422 RGD:1300292 NCBI chr20:36,189,986...36,488,460
Ensembl chr20:36,191,810...36,613,686 		JBrowse link
G CDC14A cell division cycle 14A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29293958 NCBI chr 6:49,429,675...49,678,376
Ensembl chr 6:49,497,939...49,693,665 		JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131 		JBrowse link
G CLDN14 claudin 14 susceptibility ISO DNA:deletion, missense mutation: :398delT, p.V85D
CTD Direct Evidence: marker/mechanism 		RGD
CTD		 PMID:11163249 RGD:1600866 NCBI chr31:31,677,410...31,725,794
Ensembl chr31:31,677,733...31,678,446 		JBrowse link
G COCH cochlin susceptibility ISO deafness, autosomal dominant nonsyndromic sensorineural 9, OMIM:9601369;DNA:missense mutations RGD PMID:9806553 RGD:1600878 NCBI chr 8:10,215,101...10,230,017
Ensembl chr 8:10,214,536...10,233,550 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:10677296 PMID:21204229 PMID:22246659 PMID:24033266 PMID:25741868 More... NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814 		JBrowse link
G CRYM crystallin mu ISO DNA:missense mutation:cds:p.K314T (human) RGD PMID:12471561 RGD:734836 NCBI chr 6:24,187,073...24,204,304
Ensembl chr 6:24,187,121...24,204,304 		JBrowse link
G DIAPH1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:25741868 PMID:26463574 NCBI chr 2:36,483,781...36,581,390
Ensembl chr 2:36,485,571...36,581,320 		JBrowse link
G EPS8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr27:30,893,884...31,070,401
Ensembl chr27:30,893,713...31,069,770 		JBrowse link
G ESPN espin ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10975527 PMID:15286153 PMID:15930085 RGD:734943 NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676 		JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:19293293 RGD:8553051 NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691 		JBrowse link
G GJB1 gap junction protein beta 1 treatment ISO RGD PMID:21813206 RGD:7364894 NCBI chr  X:55,565,995...55,575,332
Ensembl chr  X:55,573,808...55,574,659 		JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More... NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289 		JBrowse link
G GJB3 gap junction protein beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9843210 NCBI chr15:7,175,010...7,177,145 JBrowse link
G GPSM2 G protein signaling modulator 2 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 6:42,828,611...42,878,334
Ensembl chr 6:42,824,455...42,868,690 		JBrowse link
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr13:39,766,910...39,882,076
Ensembl chr13:39,766,919...39,882,086 		JBrowse link
G IGF1 insulin like growth factor 1 ISO RGD PMID:20661454 RGD:8549497 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr33:25,207,537...25,238,071
Ensembl chr33:25,207,572...25,237,949 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:25741868 NCBI chr24:11,656,926...11,693,146
Ensembl chr24:11,657,416...11,692,199 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO RGD PMID:12618319 RGD:8662867 NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813 		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 4:6,117,406...6,139,390
Ensembl chr 4:6,118,373...6,122,093 		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 chr 8:59,484,385...59,612,891
Ensembl chr 8:59,484,328...59,612,750 		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 chr17:20,732,779...20,771,104
Ensembl chr17:20,732,819...20,768,730 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO DNA:deletion:exon (rat) RGD PMID:16368876 RGD:1581602 NCBI chr18:46,554,390...46,830,533
Ensembl chr18:46,518,908...46,830,043 		JBrowse link
G LHFPL5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:24033266 PMID:25741868 PMID:26437881 PMID:28492532 PMID:30298622 NCBI chr12:4,919,732...4,936,823
Ensembl chr12:4,902,832...4,936,413 		JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:19732867 PMID:21465660 PMID:23897863 PMID:24033266 PMID:25333069 More... NCBI chr 7:44,662,800...44,828,405
Ensembl chr 7:44,663,182...44,826,858 		JBrowse link
G LRTOMT leucine rich transmembrane and O-methyltransferase domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:18953341 NCBI chr21:25,987,687...26,000,545
Ensembl chr21:25,987,433...26,000,327 		JBrowse link
G MARVELD2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 2:54,438,046...54,458,890
Ensembl chr 2:54,441,797...54,457,515 		JBrowse link
G MITF melanocyte inducing transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9158138 NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578 		JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:8280620 PMID:10973259 PMID:10973260 PMID:11159552 PMID:11590545 More... NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:22135276 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 More... NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279 		JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30073893 PMID:30303587 NCBI chr17:20,518,480...20,619,713
Ensembl chr17:20,518,813...20,614,750 		JBrowse link
G OTOG otogelin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr21:40,103,163...40,193,680
Ensembl chr21:40,106,826...40,192,475 		JBrowse link
G PAX3 paired box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14556253 NCBI chr37:28,346,476...28,443,648
Ensembl chr37:28,346,563...28,444,561 		JBrowse link
G PCDH15 protocadherin related 15 ISO CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation:cds:c.2911C>T|p.Arg971X (rat) 		CTD
RGD		 PMID:10978835 PMID:19151506 RGD:2306012 NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017 		JBrowse link
G PJVK pejvakin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:17301963 PMID:17718875 PMID:19888295 PMID:21696384 PMID:25741868 More... NCBI chr36:22,080,574...22,087,537
Ensembl chr36:22,040,303...22,092,249 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770608 NCBI chr 1:106,302,583...106,331,353
Ensembl chr 1:106,302,574...106,331,385 		JBrowse link
G POLR2C RNA polymerase II subunit C ISO ClinVar Annotator: match by term: Deafness ClinVar NCBI chr 2:58,953,568...58,962,522
Ensembl chr 2:58,950,622...58,962,505 		JBrowse link
G POLR2F RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Deafness with anatomical inner ear anomalies ClinVar PMID:25077900 PMID:25741868 PMID:27562378 PMID:28492532 PMID:29419413 More... NCBI chr10:26,694,895...26,707,451
Ensembl chr10:26,691,256...26,707,507 		JBrowse link
G POU3F4 POU class 3 homeobox 4 ISO RGD PMID:7839145 PMID:9298820 RGD:1599155 RGD:1599156 NCBI chr  X:64,427,161...64,428,825
Ensembl chr  X:64,427,325...64,428,410 		JBrowse link
G POU4F3 POU class 4 homeobox 3 ISO RGD PMID:9506947 RGD:1599168 NCBI chr 2:40,762,499...40,764,131
Ensembl chr 2:40,762,477...40,765,161 		JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr15:22,771,653...23,017,694
Ensembl chr15:22,825,348...23,013,762 		JBrowse link
G RAI1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:28492532 NCBI chr 5:41,687,436...41,797,354
Ensembl chr 5:41,688,479...41,808,918 		JBrowse link
G RET ret proto-oncogene ISO mRNA:increased expression:vestibulocochlear VIII nerve cochlear component RGD PMID:16738479 RGD:2324943 NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210 		JBrowse link
G SERAC1 serine active site containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22683713 NCBI chr 1:47,599,802...47,651,034
Ensembl chr 1:47,578,472...47,669,494 		JBrowse link
G SLC19A2 solute carrier family 19 member 2 ISO RGD PMID:10391221 RGD:1599325 NCBI chr 7:29,094,341...29,114,319
Ensembl chr 7:29,094,101...29,113,249 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:9500541 PMID:9618166 PMID:10861298 PMID:11317356 PMID:12354788 More... NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212 		JBrowse link
G SLC26A5 solute carrier family 26 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12719379 NCBI chr18:16,783,795...16,841,946
Ensembl chr18:16,788,759...16,839,940 		JBrowse link
G SMAD4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158539 NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405 		JBrowse link
G SOX10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Deafness with anatomical inner ear anomalies ClinVar PMID:25077900 PMID:25741868 PMID:27562378 PMID:28492532 PMID:29419413 More... NCBI chr10:26,680,441...26,690,530
Ensembl chr10:26,681,122...26,689,882 		JBrowse link
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147 		JBrowse link
G TMC1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:11850618 PMID:16199547 PMID:22105175 PMID:25741868 PMID:28492532 More... NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369 		JBrowse link
G TMTC2 transmembrane O-mannosyltransferase targeting cadherins 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27311106 NCBI chr15:24,629,610...25,017,936
Ensembl chr15:24,629,157...25,016,555 		JBrowse link
G TRIO trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:25741868 NCBI chr34:271,572...505,656
Ensembl chr34:272,290...505,636 		JBrowse link
G TRIOBP TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:26,856,981...26,913,330
Ensembl chr10:26,857,678...26,911,083 		JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:25741868 PMID:30303587 NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900 		JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 More... NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444 		JBrowse link
G WHRN whirlin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977 		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 ISO ClinVar Annotator: match by term: Deafness, cataract, impaired intellectual development, and polyneuropathy OMIM
ClinVar		 PMID:32500975 NCBI chr18:42,212,083...42,218,958 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 ISO ClinVar Annotator: match by term: Deafness, congenital heart defects, and posterior embryotoxon OMIM
ClinVar		 PMID:9585603 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 More... NCBI chr24:11,656,926...11,693,146
Ensembl chr24:11,657,416...11,692,199 		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 ISO ClinVar Annotator: match by term: Deafness, congenital, and adult-onset progressive leukoencephalopathy OMIM
ClinVar		 PMID:21427441 PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 More... NCBI chr 5:75,172,976...75,188,197
Ensembl chr 5:75,173,032...75,188,197 		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 ISO ClinVar Annotator: match by term: Deafness, with smith-magenis syndrome ClinVar PMID:11735029 PMID:17546645 PMID:19274735 PMID:21270786 PMID:24033266 More... NCBI chr 5:41,369,484...41,421,303
Ensembl chr 5:41,370,509...41,392,881 		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 ISO ClinVar Annotator: match by term: Deafness dystonia syndrome ClinVar NCBI chr  X:75,270,952...75,302,663
Ensembl chr  X:75,270,979...75,302,562 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: Deafness dystonia syndrome OMIM
ClinVar		 PMID:8841189 PMID:9536098 PMID:10878669 PMID:11405816 PMID:11601506 More... NCBI chr  X:75,267,437...75,270,288
Ensembl chr  X:75,267,450...75,270,288 		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 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:19344877 PMID:24033266 PMID:25741868 NCBI chr30:10,471,798...10,487,948
Ensembl chr30:10,471,814...10,487,739 		JBrowse link
G LOC478277 creatine kinase U-type, mitochondrial ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr30:10,438,566...10,444,532 JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr30:10,487,926...10,513,437
Ensembl chr30:10,487,921...10,513,397 		JBrowse link
G PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr30:10,383,733...10,436,423
Ensembl chr30:10,384,791...10,426,533 		JBrowse link
G STRC stereocilin ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:18414213 PMID:21078986 PMID:22147502 PMID:24033266 PMID:25157971 More... NCBI chr30:10,444,726...10,459,058
Ensembl chr30:10,444,793...10,460,785 		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 MANF mesencephalic astrocyte derived neurotrophic factor ISO ClinVar Annotator: match by term: Diabetes, deafness, developmental delay, and short stature syndrome OMIM
ClinVar		 PMID:25741868 PMID:26077850 PMID:33500254 NCBI chr20:38,196,427...38,200,114
Ensembl chr20:38,196,425...38,199,992 		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 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1J | ClinVar Annotator: match by term: EYA4-related condition | ClinVar Annotator: match by term: EYA4-related disorder OMIM
ClinVar		 PMID:9536098 PMID:10769282 PMID:11159937 PMID:15735644 PMID:16199547 More... NCBI chr 1:26,208,514...26,514,601
Ensembl chr 1:26,272,448...26,514,201 		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 ISO ClinVar Annotator: match by term: ATP6V1B1-related condition | ClinVar Annotator: match by term: Renal tubular acidosis with progressive nerve deafness OMIM
ClinVar		 PMID:8651253 PMID:9536098 PMID:9916796 PMID:12414817 PMID:12566520 More... NCBI chr10:69,261,311...69,287,540
Ensembl chr10:69,252,926...69,287,542 		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 ISO ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Recessive | ClinVar Annotator: match by term: Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss OMIM
ClinVar		 PMID:9536098 PMID:10973252 PMID:12414817 PMID:16199547 PMID:16611712 More... NCBI chr16:9,864,938...9,949,740
Ensembl chr16:9,885,149...9,949,708 		JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss ClinVar PMID:25741868 NCBI chr10:69,261,311...69,287,540
Ensembl chr10:69,252,926...69,287,542 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO RGD PMID:17409310 RGD:13208934 NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915 		JBrowse link
dominant optic atrophy plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO 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
OMIM		 PMID:4058877 PMID:6493699 PMID:9490303 PMID:9917792 PMID:11017079 More... NCBI chr23:52,068,123...52,154,410
Ensembl chr23:52,068,118...52,151,593 		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 ISO ClinVar Annotator: match by term: Donnai-Barrow syndrome ClinVar PMID:19136951 PMID:25741868 PMID:28492532 NCBI chr12:32,274,056...32,383,737
Ensembl chr12:32,274,412...32,383,578 		JBrowse link
G LRP2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: DBS/FOAR SYNDROME | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: FACIOOCULOACOUSTICORENAL SYNDROME | ClinVar Annotator: match by term: LRP2-related condition OMIM
ClinVar		 PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 More... NCBI chr36:13,910,450...14,107,081
Ensembl chr36:13,911,865...14,107,546 		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 ISO ClinVar Annotator: match by term: DOORS syndrome ClinVar PMID:25741868 NCBI chr13:4,509,699...4,569,500
Ensembl chr13:4,510,003...4,579,846 		JBrowse link
G CDH1 cadherin 1 ISO ClinVar Annotator: match by term: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME ClinVar PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31465090 NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: DOORS syndrome ClinVar PMID:25326637 PMID:28492532 NCBI chr23:52,068,123...52,154,410
Ensembl chr23:52,068,118...52,151,593 		JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: DOOR SYNDROME | ClinVar Annotator: match by term: DOORS syndrome OMIM
ClinVar		 PMID:1029242 PMID:3402014 PMID:16199547 PMID:20727515 PMID:22211675 More... NCBI chr 6:38,531,547...38,557,472 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 ISO CTD Direct Evidence: therapeutic CTD PMID:36800006 NCBI chr18:25,369,183...25,388,126
Ensembl chr18:25,369,382...25,388,118 		JBrowse link
EAST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A4 ATPase Na+/K+ transporting subunit alpha 4 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr38:22,023,176...22,080,656
Ensembl chr38:22,023,221...22,080,604 		JBrowse link
G IGSF8 immunoglobulin superfamily member 8 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr38:22,093,463...22,100,009
Ensembl chr38:22,062,591...22,100,020 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO
IAGP 		ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: SeSAME-like syndrome | ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome
Ataxia, cerebellar, KCNJ10-related 		OMIM
ClinVar
OMIA		 PMID:2061870 PMID:4747697 PMID:15320590 PMID:19289823 PMID:19420365 More... NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813 		JBrowse link
G KCNJ9 potassium inwardly rectifying channel subfamily J member 9 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr38:22,100,627...22,104,165
Ensembl chr38:22,100,621...22,104,167 		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 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr14:43,592,266...43,603,903
Ensembl chr14:43,578,721...43,605,720 		JBrowse link
G CRHR2 corticotropin releasing hormone receptor 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr14:43,366,849...43,414,398
Ensembl chr14:43,368,340...43,415,142 		JBrowse link
G GARS1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr14:43,308,274...43,351,999
Ensembl chr14:43,308,152...43,396,487 		JBrowse link
G GGCT gamma-glutamylcyclotransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr14:43,244,220...43,252,930
Ensembl chr14:43,245,102...43,252,923 		JBrowse link
G GHRHR growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr14:43,626,862...43,638,737
Ensembl chr14:43,626,845...43,638,753 		JBrowse link
G LOC489397 nicotinamide N-methyltransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr 5:19,061,388...19,064,733 JBrowse link
G MINDY4 MINDY lysine 48 deubiquitinase 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr14:43,469,740...43,573,999
Ensembl chr14:43,469,784...43,573,999 		JBrowse link
G MTURN maturin, neural progenitor differentiation regulator homolog ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr14:42,890,343...42,928,985
Ensembl chr14:42,899,944...42,930,117 		JBrowse link
G NOD1 nucleotide binding oligomerization domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr14:43,162,671...43,226,948
Ensembl chr14:43,163,571...43,227,103 		JBrowse link
G PLEKHA8 pleckstrin homology domain containing A8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr14:42,807,290...42,864,207
Ensembl chr14:42,807,290...42,889,602 		JBrowse link
G ZNRF2 zinc and ring finger 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 ClinVar PMID:28492532 NCBI chr14:43,029,270...43,123,292 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 ISO ClinVar Annotator: match by term: CD151-related condition | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 7, with nephropathy and deafness OMIM
ClinVar		 PMID:9536098 PMID:15265795 PMID:17576681 PMID:25741868 PMID:25741871 More... NCBI chr18:45,195,875...45,200,066
Ensembl chr18:45,196,237...45,200,081 		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 ISO 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 chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294 		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 ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:25741868 NCBI chr25:51,228,194...51,296,743
Ensembl chr25:51,228,371...51,297,942 		JBrowse link
G POR cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:22162478 PMID:25741868 NCBI chr 6:7,247,780...7,316,282
Ensembl chr 6:7,263,574...7,316,297 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:25741868 NCBI chr18:42,221,311...42,229,992
Ensembl chr18:42,222,333...42,227,361 		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 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:49,669,849...49,740,039
Ensembl chr12:49,672,389...49,739,850 		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 ISO ClinVar Annotator: match by term: Griscelli syndrome ClinVar PMID:10835631 PMID:12148598 PMID:16551969 PMID:18350256 PMID:19953648 More... NCBI chr30:20,633,576...20,706,240
Ensembl chr30:20,635,400...20,690,521 		JBrowse link
Griscelli syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO5A myosin VA ISO ClinVar Annotator: match by term: Griscelli syndrome type 1 | ClinVar Annotator: match by term: MYO5A-related condition OMIM
ClinVar		 PMID:9207796 PMID:9536098 PMID:10704277 PMID:12058346 PMID:17576681 More... NCBI chr30:17,990,521...18,122,160
Ensembl chr30:17,888,419...18,213,061 		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 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr30:20,756,381...20,795,553
Ensembl chr30:20,716,761...20,795,586 		JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr30:20,778,497...20,871,304
Ensembl chr30:20,815,775...20,871,220 		JBrowse link
G PIERCE2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr30:20,795,024...20,809,659 JBrowse link
G PIGB phosphatidylinositol glycan anchor biosynthesis class B ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:10835631 PMID:23160464 PMID:28492532 NCBI chr30:20,718,622...20,756,394
Ensembl chr30:20,718,274...20,756,365 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family ISO 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 OMIM
ClinVar		 PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12148598 More... NCBI chr30:20,633,576...20,706,240
Ensembl chr30:20,635,400...20,690,521 		JBrowse link
Griscelli syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MLPH melanophilin ISO ClinVar Annotator: match by term: Griscelli syndrome type 3 | ClinVar Annotator: match by term: MLPH-related condition OMIM
ClinVar		 PMID:12148598 PMID:12897212 PMID:21883982 PMID:22711375 PMID:25741868 More... NCBI chr25:48,121,499...48,167,535
Ensembl chr25:48,121,499...48,170,710 		JBrowse link
G MYO5A myosin VA ISO ClinVar Annotator: match by term: Griscelli syndrome type 3 ClinVar PMID:12148598 PMID:12897212 PMID:22711375 PMID:25283056 NCBI chr30:17,990,521...18,122,160
Ensembl chr30:17,888,419...18,213,061 		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 4:58,800,818...58,865,830
Ensembl chr 4:58,800,813...58,865,830 		JBrowse link
G CAMK2B calcium/calmodulin dependent protein kinase II beta treatment ISO RGD PMID:23558232 RGD:9685025
G CAT catalase ISO protein:decreased expression:cochlear: RGD PMID:10220857 RGD:9197256 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447 		JBrowse link
G GSK3B glycogen synthase kinase 3 beta treatment ISO RGD PMID:19666099 RGD:10045579 NCBI chr33:23,458,369...23,659,878
Ensembl chr33:23,463,767...23,659,666 		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 chr13:36,743,027...36,744,266 JBrowse link
G BDNF brain derived neurotrophic factor ISO protein:increased expression:cochlea: RGD PMID:17275194 PMID:19925854 PMID:22723694 RGD:8636263 RGD:8655559 RGD:8655575 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480 		JBrowse link
G CALB1 calbindin 1 ISO RGD PMID:22428005 RGD:401940127 NCBI chr29:35,551,836...35,572,985
Ensembl chr29:35,552,436...35,572,925 		JBrowse link
G CAT catalase susceptibility
treatment
severity 		ISO DNA:SNPs,haplotype:: RGD PMID:17567781 PMID:18212468 PMID:23179931 RGD:9068906 RGD:9068923 RGD:9190810 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:cochlea (mouse) RGD PMID:17081714 RGD:8549464 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:17075702 RGD:8657356 NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698 		JBrowse link
G CDH23 cadherin related 23 no_association ISO DNA:SNPs: :rs1227049, rs1227051 (human)
DNA:SNPs: :rs1227049, rs3802711 (human) 		RGD PMID:16598924 RGD:8662283 NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO RGD PMID:21187137 RGD:8661793 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281 		JBrowse link
G CFI complement factor I ISO mRNA:increased expression:spiral organ of cochlea, sensory epithelium RGD PMID:23727008 RGD:8662317 NCBI chr32:29,936,447...29,986,755
Ensembl chr32:29,936,393...29,985,724 		JBrowse link
G CNTN1 contactin 1 ISO RGD PMID:22044737 RGD:5685697 NCBI chr27:12,655,021...13,005,536
Ensembl chr27:12,657,287...12,920,315 		JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO RGD PMID:22428005 RGD:401940127 NCBI chr 4:49,006,981...49,065,205
Ensembl chr 4:49,009,495...49,062,581 		JBrowse link
G GAD1 glutamate decarboxylase 1 ISO RGD PMID:22428005 RGD:401940127 NCBI chr36:15,351,289...15,391,701
Ensembl chr36:15,349,683...15,391,824 		JBrowse link
G GAP43 growth associated protein 43 ISO RGD PMID:22428005 RGD:401940127 NCBI chr33:19,668,491...19,770,509
Ensembl chr33:19,656,835...19,770,408 		JBrowse link
G GJB2 gap junction protein beta 2 ISO protein:increased expression:cochlea: RGD PMID:15224875 RGD:7349367 NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha treatment ISO RGD PMID:21787680 RGD:8695948 NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692 		JBrowse link
G HSP70 heat shock protein 70 ISO DNA:SNP, haplotype: :rs1061581 (human) RGD PMID:18813331 RGD:8662841 NCBI chr12:1,285,282...1,287,670 JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO RGD PMID:19213042 RGD:8547577 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914 		JBrowse link
G IGF1 insulin like growth factor 1 ISO RGD PMID:16585854 RGD:8549455 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794 		JBrowse link
G IL6 interleukin 6 ISO RGD PMID:16429448 RGD:7829818 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519 		JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Noise induced hearing loss ClinVar PMID:7828904 PMID:9445165 PMID:12402336 PMID:14661677 PMID:14760488 More... NCBI chr31:29,858,428...29,868,315 JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823764 NCBI chr18:46,554,390...46,830,533
Ensembl chr18:46,518,908...46,830,043 		JBrowse link
G KCNQ4 potassium voltage-gated channel subfamily Q member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823764 NCBI chr15:2,203,938...2,257,152
Ensembl chr15:2,205,276...2,242,093 		JBrowse link
G LOC474850 heat shock 70 kDa protein 1-like ISO DNA:SNP, haplotype: :rs2227956 (human) RGD PMID:17009596 RGD:8662466 NCBI chr12:1,281,164...1,285,010
Ensembl chr12:1,281,472...1,285,440 		JBrowse link
G MIR107 microRNA mir-107 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr28:4,484,653...4,484,710
Ensembl chr28:4,484,646...4,484,718 		JBrowse link
G MIR10A microRNA mir-10a ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 9:24,842,171...24,842,233
Ensembl chr 9:24,842,145...24,842,248 		JBrowse link
G MIR146B microRNA mir-146b ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr28:14,940,550...14,940,610
Ensembl chr28:14,940,550...14,940,610 		JBrowse link
G MIR183 microRNA mir-183 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr14:7,068,542...7,068,603
Ensembl chr14:7,068,519...7,068,625 		JBrowse link
G MIR186 microRNA mir-186 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 6:74,881,615...74,881,675
Ensembl chr 6:74,881,601...74,881,686 		JBrowse link
G MIR190B microRNA mir-190b ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 7:43,037,530...43,037,607
Ensembl chr 7:43,037,530...43,037,607 		JBrowse link
G MIR200C microRNA mir-200c ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr27:38,082,097...38,082,159
Ensembl chr27:38,082,091...38,082,169 		JBrowse link
G MIR30D microRNA mir-30d ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr13:30,910,306...30,910,365
Ensembl chr13:30,910,306...30,910,365 		JBrowse link
G MIR30E microRNA mir-30e ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr15:2,283,306...2,283,369
Ensembl chr15:2,283,306...2,283,369 		JBrowse link
G MIR331 microRNA mir-331 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr15:35,234,750...35,234,839
Ensembl chr15:35,234,740...35,234,850 		JBrowse link
G MIR339-1 microRNA mir-339-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 6:15,853,520...15,853,577
Ensembl chr 6:15,853,520...15,853,577 		JBrowse link
G MIR381 microRNA mir-381 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 8:69,274,983...69,275,057 JBrowse link
G MIR532 microRNA mir-532 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr  X:42,774,680...42,774,738
Ensembl chr  X:42,774,680...42,774,738 		JBrowse link
G MIR99B microRNA mir-99b ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 1:105,400,925...105,400,984
Ensembl chr 1:105,400,925...105,400,984 		JBrowse link
G MMP7 matrix metallopeptidase 7 ISO RGD PMID:23100416 RGD:9685340 NCBI chr 5:29,187,902...29,196,157
Ensembl chr 5:29,187,851...29,196,153 		JBrowse link
G NOB1 NIN1 (RPN12) binding protein 1 homolog ISO mRNA:increased expression:cochlea RGD PMID:21219967 RGD:10766449 NCBI chr 5:79,958,145...79,966,166
Ensembl chr 5:79,945,446...79,966,147 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO protein:increased expression:hippocampus RGD PMID:31071644 RGD:408364986 NCBI chr 2:38,124,568...38,242,510
Ensembl chr 2:38,123,190...38,240,755 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.S326C (rs1052133) (human) 		CTD
RGD		 PMID:24599382 RGD:8657374 NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264 		JBrowse link
G PON2 paraoxonase 2 susceptibility ISO DNA:SNPs: :multiple RGD PMID:23327886 RGD:8661240 NCBI chr14:20,652,905...20,680,945
Ensembl chr14:20,652,905...20,680,980 		JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa treatment ISO RGD PMID:25108045 RGD:11100045 NCBI chr19:23,173,626...23,183,634
Ensembl chr19:23,173,635...23,183,563 		JBrowse link
G PTGER4 prostaglandin E receptor 4 resistance ISO RGD PMID:22198478 RGD:6483524 NCBI chr 4:68,663,362...68,676,241
Ensembl chr 4:68,663,364...68,676,358 		JBrowse link
G SELL selectin L ISO RGD PMID:22044737 RGD:5685697 NCBI chr 7:28,906,752...28,927,959
Ensembl chr 7:28,906,809...29,094,008 		JBrowse link
G SLC26A5 solute carrier family 26 member 5 ISO mRNA, protein:increased expression:cochlea (mouse) RGD PMID:24376553 RGD:9585684 NCBI chr18:16,783,795...16,841,946
Ensembl chr18:16,788,759...16,839,940 		JBrowse link
G SOD1 superoxide dismutase 1 susceptibility
severity 		ISO DNA:snps, haplotypes:introns:multiple (human)
DNA:snps:introns:IVS2+193T>G (rs10432782), IVS3-251A>G (rs2070424) (human) 		RGD PMID:10436316 PMID:19895330 PMID:22931816 RGD:8655611 RGD:8655851 RGD:8655966 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815 		JBrowse link
G SOD2 superoxide dismutase 2 susceptibility ISO 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 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase treatment ISO RGD PMID:21840347 RGD:11554196 NCBI chr24:25,982,499...26,019,748
Ensembl chr24:25,999,048...26,018,077 		JBrowse link
G TAOK1 TAO kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 9:43,501,752...43,660,077
Ensembl chr 9:43,559,708...43,651,377 		JBrowse link
G TNF tumor necrosis factor ISO mRNA:increased expression:cochlea: RGD PMID:19051071 RGD:7394705 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
Hearing Loss, Unilateral Sensorineural term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLA88 MHC class I DLA-88 ISO Unilateral Childhood Sensorineural Hearing Loss; DNA:polymorphism:cds:HLA-Bw54 (human) RGD PMID:2909230 RGD:7365120 NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690 		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 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chr14:18,043,857...18,054,340
Ensembl chr14:18,043,671...18,052,979 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C OMIM
ClinVar		 PMID:1301993 PMID:2063923 PMID:2324705 PMID:3196484 PMID:9398847 More... NCBI chr14:18,073,759...18,144,489
Ensembl chr14:18,073,758...18,143,152 		JBrowse link
G PEX26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Heimler syndrome 1 ClinVar PMID:28492532 PMID:33926089 NCBI chr27:45,675,537...45,688,026
Ensembl chr27:45,675,472...45,725,681 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:11,503,184...11,514,977
Ensembl chr12:11,503,240...11,514,929 		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 ISO ClinVar Annotator: match by term: HID SYNDROME | ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness OMIM
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289 		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 ISO ClinVar Annotator: match by term: Deafness and myopia | ClinVar Annotator: match by term: High myopia-sensorineural deafness syndrome | ClinVar Annotator: match by term: SLITRK6-related condition OMIM
ClinVar		 PMID:23543054 PMID:23946138 PMID:24033266 PMID:25363768 PMID:25741868 More... NCBI chr22:37,911,533...37,918,273
Ensembl chr22:37,912,612...37,925,177 		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 chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
histiocytosis-lymphadenopathy plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC29A3 solute carrier family 29 member 3 ISO ClinVar Annotator: match by term: Faisalabad histiocytosis | ClinVar Annotator: match by term: H syndrome | ClinVar Annotator: match by term: Histiocytosis-lymphadenopathy plus syndrome OMIM
ClinVar		 PMID:9536098 PMID:9545394 PMID:16118898 PMID:16155931 PMID:16199547 More... NCBI chr 4:22,094,899...22,135,066
Ensembl chr 4:22,097,764...22,133,197 		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 ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:9536098 PMID:15300250 PMID:16155193 PMID:16400610 PMID:16615981 More... NCBI chr29:11,115,865...11,284,713
Ensembl chr29:11,156,340...11,283,627 		JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:29300383 NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:25741868 PMID:29300383 NCBI chr13:37,375,781...37,387,969
Ensembl chr13:37,375,651...37,387,875 		JBrowse link
G SEMA3E semaphorin 3E ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:9536098 PMID:15235037 PMID:17576681 PMID:25741868 PMID:25985275 More... NCBI chr18:22,881,135...22,982,549
Ensembl chr18:22,881,133...23,116,696 		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 ISO ClinVar Annotator: match by term: Hypokalemic tubulopathy and deafness OMIM
ClinVar		 PMID:25741868 PMID:33811157 NCBI chr 9:16,369,312...16,441,953
Ensembl chr 9:16,383,702...16,441,953 		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 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:21,631,458...21,639,510 JBrowse link
G AKR1C3 aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:30,661,333...30,691,283
Ensembl chr 2:30,674,558...30,690,043 		JBrowse link
G AKR1E2 aldo-keto reductase family 1 member E2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:30,694,119...30,706,693
Ensembl chr 2:30,694,249...30,706,637 		JBrowse link
G ANKRD16 ankyrin repeat domain 16 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:30,095,941...30,105,739
Ensembl chr 2:30,095,548...30,105,212 		JBrowse link
G ARL5B ADP ribosylation factor like GTPase 5B ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:18,441,251...18,476,989
Ensembl chr 2:18,445,860...18,471,066 		JBrowse link
G ASB13 ankyrin repeat and SOCS box containing 13 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:30,244,619...30,314,314
Ensembl chr 2:30,293,451...30,311,817 		JBrowse link
G ATP5F1C ATP synthase F1 subunit gamma ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:28,306,857...28,325,149
Ensembl chr 2:28,306,857...28,325,116 		JBrowse link
G BEND7 BEN domain containing 7 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:22,975,673...23,057,029
Ensembl chr 2:22,977,139...23,054,867 		JBrowse link
G C1QL3 complement C1q like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:20,300,916...20,308,393
Ensembl chr 2:20,301,008...20,307,603 		JBrowse link
G CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:18,537,100...18,787,728
Ensembl chr 2:18,538,620...18,902,286 		JBrowse link
G CALML5 calmodulin like 5 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:30,431,088...30,431,950
Ensembl chr 2:30,429,338...30,431,948 		JBrowse link
G CAMK1D calcium/calmodulin dependent protein kinase ID ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:23,680,395...24,113,922
Ensembl chr 2:23,685,672...24,114,084 		JBrowse link
G CCDC3 coiled-coil domain containing 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:23,477,696...23,593,107
Ensembl chr 2:23,477,696...23,591,036 		JBrowse link
G CDC123 cell division cycle 123 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:24,184,780...24,239,495
Ensembl chr 2:24,184,807...24,240,081 		JBrowse link
G CDNF cerebral dopamine neurotrophic factor ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:21,795,701...21,814,359
Ensembl chr 2:21,795,821...21,814,320 		JBrowse link
G CELF2 CUGBP Elav-like family member 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:25,003,810...25,818,264
Ensembl chr 2:25,004,580...25,520,136 		JBrowse link
G CUBN cubilin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:19,784,125...20,041,840
Ensembl chr 2:19,784,198...20,041,839 		JBrowse link
G DCLRE1C DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:21,688,822...21,725,021
Ensembl chr 2:21,688,766...21,724,248 		JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:24,298,323...24,349,848
Ensembl chr 2:24,299,789...24,349,899 		JBrowse link
G ECHDC3 enoyl-CoA hydratase domain containing 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:24,600,563...24,619,948
Ensembl chr 2:24,599,709...24,619,958 		JBrowse link
G FAM107B family with sequence similarity 107 member B ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:22,015,294...22,085,890
Ensembl chr 2:21,859,935...22,083,555 		JBrowse link
G FAM171A1 family with sequence similarity 171 member A1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:21,445,602...21,505,564
Ensembl chr 2:21,445,726...21,504,249 		JBrowse link
G FBH1 F-box DNA helicase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:30,047,994...30,095,761
Ensembl chr 2:30,048,567...30,095,696 		JBrowse link
G FRMD4A FERM domain containing 4A ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:22,128,030...22,857,707
Ensembl chr 2:22,248,890...22,857,220 		JBrowse link
G GATA3 GATA binding protein 3 ISO ClinVar Annotator: match by term: GATA3-related condition | ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome OMIM
ClinVar		 PMID:9536098 PMID:10935639 PMID:11389161 PMID:14985365 PMID:15705923 More... NCBI chr 2:28,068,143...28,098,445
Ensembl chr 2:28,069,051...28,087,760 		JBrowse link
G GDI2 GDP dissociation inhibitor 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:30,150,769...30,168,957
Ensembl chr 2:30,150,769...30,169,110 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:19,362,488...19,383,090
Ensembl chr 2:19,362,403...19,383,090 		JBrowse link
G IL15RA interleukin 15 receptor subunit alpha ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:29,981,385...30,034,364
Ensembl chr 2:29,981,234...30,038,945 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:29,892,130...29,948,926
Ensembl chr 2:29,894,125...29,944,643 		JBrowse link
G ITGA8 integrin subunit alpha 8 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:21,034,630...21,244,304
Ensembl chr 2:21,075,653...21,241,951 		JBrowse link
G ITIH2 inter-alpha-trypsin inhibitor heavy chain 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:28,367,842...28,403,610
Ensembl chr 2:28,367,908...28,403,667 		JBrowse link
G ITIH5 inter-alpha-trypsin inhibitor heavy chain 5 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:28,437,907...28,507,008
Ensembl chr 2:28,441,056...28,506,966 		JBrowse link
G KIN Kin17 DNA and RNA binding protein ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:28,325,243...28,360,790
Ensembl chr 2:28,324,723...28,360,773 		JBrowse link
G LOC102153034 calmodulin-like protein 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:30,410,830...30,411,981 JBrowse link
G LOC478000 phytanoyl-CoA hydroxylase-like ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:23,185,901...23,206,719
Ensembl chr 2:23,185,782...23,253,497 		JBrowse link
G MCM10 minichromosome maintenance 10 replication initiation factor ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:23,288,249...23,344,060
Ensembl chr 2:23,292,253...23,344,719 		JBrowse link
G MEIG1 meiosis/spermiogenesis associated 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:21,675,003...21,684,020
Ensembl chr 2:21,675,012...21,679,456 		JBrowse link
G MINDY3 MINDY lysine 48 deubiquitinase 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:20,948,946...21,014,938
Ensembl chr 2:20,865,946...21,014,429 		JBrowse link
G NET1 neuroepithelial cell transforming 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:30,450,946...30,463,280
Ensembl chr 2:30,450,965...30,492,074 		JBrowse link
G NMT2 N-myristoyltransferase 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:21,569,692...21,609,585
Ensembl chr 2:21,556,246...21,609,325 		JBrowse link
G NSUN6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:18,477,150...18,534,716
Ensembl chr 2:18,477,211...18,534,710 		JBrowse link
G NUDT5 nudix hydrolase 5 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:24,239,632...24,266,763
Ensembl chr 2:24,239,627...24,264,469 		JBrowse link
G OPTN optineurin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:23,356,471...23,390,569
Ensembl chr 2:23,357,237...23,392,511 		JBrowse link
G PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:29,716,866...29,785,643
Ensembl chr 2:29,716,752...29,801,936 		JBrowse link
G PRKCQ protein kinase C theta ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:29,319,123...29,505,338
Ensembl chr 2:29,318,870...29,505,337 		JBrowse link
G PROSER2 proline and serine rich 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:24,510,659...24,550,712
Ensembl chr 2:24,512,531...24,550,709 		JBrowse link
G PRPF18 pre-mRNA processing factor 18 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:22,868,184...22,922,647 JBrowse link
G PTER phosphotriesterase related ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:20,237,673...20,377,290
Ensembl chr 2:20,280,990...20,342,390 		JBrowse link
G RBM17 RNA binding motif protein 17 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:29,828,720...29,853,922
Ensembl chr 2:29,829,210...29,853,841 		JBrowse link
G RPP38 ribonuclease P/MRP subunit p38 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:21,612,114...21,617,371
Ensembl chr 2:21,612,200...21,614,485 		JBrowse link
G RSU1 Ras suppressor protein 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:20,050,029...20,299,179
Ensembl chr 2:20,050,117...20,299,184 		JBrowse link
G SEC61A2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:24,267,260...24,292,466
Ensembl chr 2:24,267,271...24,349,736 		JBrowse link
G SEPHS1 selenophosphate synthetase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:23,147,303...23,178,808
Ensembl chr 2:23,146,353...23,177,174 		JBrowse link
G SFMBT2 Scm like with four mbt domains 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:28,637,365...28,856,505
Ensembl chr 2:28,661,058...28,853,364 		JBrowse link
G SLC39A12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:18,991,734...19,064,899
Ensembl chr 2:18,992,031...19,063,647 		JBrowse link
G ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:19,392,690...19,618,127
Ensembl chr 2:19,482,468...19,616,339 		JBrowse link
G STAM signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:19,264,392...19,344,187
Ensembl chr 2:19,266,055...19,344,045 		JBrowse link
G SUV39H2 SUV39H2 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:21,715,677...21,749,732
Ensembl chr 2:21,728,964...21,749,597 		JBrowse link
G TAF3 TATA-box binding protein associated factor 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:28,121,719...28,298,961
Ensembl chr 2:28,122,649...28,298,946 		JBrowse link
G TASOR2 transcription activation suppressor family member 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:30,170,539...30,244,738
Ensembl chr 2:30,170,994...30,244,726 		JBrowse link
G TRDMT1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:19,702,561...19,763,744
Ensembl chr 2:19,677,444...19,763,741 		JBrowse link
G TUBAL3 tubulin alpha like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:30,523,678...30,531,909
Ensembl chr 2:30,523,652...30,532,263 		JBrowse link
G UCMA upper zone of growth plate and cartilage matrix associated ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:23,287,410...23,307,116
Ensembl chr 2:23,287,551...23,298,035 		JBrowse link
G UCN3 urocortin 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:30,541,316...30,547,839
Ensembl chr 2:30,541,779...30,542,282 		JBrowse link
G UPF2 UPF2 regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:24,370,961...24,473,437
Ensembl chr 2:24,371,058...24,472,140 		JBrowse link
G USP6NL USP6 N-terminal like ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:24,724,454...24,894,052
Ensembl chr 2:24,743,120...24,891,668 		JBrowse link
G VIM vimentin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:19,671,316...19,679,367
Ensembl chr 2:19,671,316...19,679,466 		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 ISO 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 chr26:22,632,970...22,715,449
Ensembl chr26:22,630,670...22,689,996 		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 ISO ClinVar Annotator: match by term: Growth retardation with sensorineural deafness and mental retardation | ClinVar Annotator: match by term: IGF1-related condition OMIM
ClinVar		 PMID:8857020 PMID:14684690 PMID:15769976 PMID:18317720 PMID:19240240 More... NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794 		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 ISO ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica OMIM
ClinVar		 PMID:5457846 PMID:10781099 PMID:25741868 PMID:28492532 PMID:31719132 NCBI chr22:3,255,139...3,261,440
Ensembl chr22:3,255,631...3,261,433 		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 ISO ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders OMIM
ClinVar		 PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532 NCBI chr24:37,941,498...37,959,713
Ensembl chr24:37,940,034...38,037,287 		JBrowse link
Johanson-Blizzard syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 ISO ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness | ClinVar Annotator: match by term: UBR1-related condition OMIM
ClinVar		 PMID:16311597 PMID:18553553 PMID:19006206 PMID:19058315 PMID:20556423 More... NCBI chr30:9,869,769...10,006,994
Ensembl chr30:9,870,021...10,006,947 		JBrowse link
Keipert syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPC4 glypican 4 ISO 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:104,098,316...104,215,883
Ensembl chr  X:104,100,571...104,216,103 		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 ISO ClinVar Annotator: match by term: Keratitis-Ichthyosis-Deafness Syndrome ClinVar PMID:22567369 PMID:25741868 NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289 		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 C26H12orf43 chromosome 26 C12orf43 homolog ISO ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive ClinVar PMID:30561130 NCBI chr26:16,826,481...16,835,832
Ensembl chr26:16,826,489...16,835,796 		JBrowse link
G HNF1A HNF1 homeobox A ISO ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive ClinVar PMID:30561130 NCBI chr26:16,805,690...16,826,065
Ensembl chr26:16,805,690...16,824,790 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated ISO 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 chr 3:53,220,199...53,239,738
Ensembl chr 3:53,220,194...53,239,732 		JBrowse link
Kilquist Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC12A2 solute carrier family 12 member 2 ISO ClinVar Annotator: match by term: Kilquist syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30740830 PMID:32294086 PMID:32658972 More... NCBI chr11:17,143,943...17,256,248
Ensembl chr11:17,143,943...17,253,695 		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 ISO OMIM:149730 MouseDO NCBI chr 4:65,851,130...65,930,944
Ensembl chr 4:65,851,069...65,928,192 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: LADD syndrome 1 | ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 1 OMIM
ClinVar		 PMID:7719344 PMID:8651276 PMID:9002682 PMID:9462761 PMID:9719378 More... NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 1 ClinVar PMID:8078586 PMID:8723101 PMID:17033969 PMID:17256796 PMID:17320202 More... NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896 		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 ISO 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 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896 		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 ISO 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 4:65,851,130...65,930,944
Ensembl chr 4:65,851,069...65,928,192 		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 ISO ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 NCBI chr 4:65,851,130...65,930,944
Ensembl chr 4:65,851,069...65,928,192 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896 		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 ISO ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS | ClinVar Annotator: match by term: Leukoencephalopathy, progressive, infantile-onset, with or without deafness OMIM
ClinVar		 PMID:21181198 PMID:21427441 PMID:23596069 PMID:23768514 PMID:24824130 More... NCBI chr 5:75,172,976...75,188,197
Ensembl chr 5:75,173,032...75,188,197 		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 ISO 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 chr 1:106,302,583...106,331,353
Ensembl chr 1:106,302,574...106,331,385 		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 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar
OMIM		 PMID:9129742 PMID:9529347 PMID:9536098 PMID:9792885 PMID:10486316 More... NCBI chr 6:47,425,387...47,622,189
Ensembl chr 6:47,425,307...47,621,012 		JBrowse link
G PCDH12 protocadherin 12 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:36,886,224...36,900,373
Ensembl chr 2:36,886,226...36,900,003 		JBrowse link
G RNF14 ring finger protein 14 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:36,908,617...36,934,896
Ensembl chr 2:36,911,612...36,929,172 		JBrowse link
G RNPC3 RNA binding region (RNP1, RRM) containing 3 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 NCBI chr 6:46,960,033...47,044,272
Ensembl chr 6:47,016,038...47,044,236 		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 ISO ClinVar Annotator: match by term: Marshall/Stickler syndrome ClinVar PMID:1536174 PMID:10486316 NCBI chr 6:47,425,387...47,622,189
Ensembl chr 6:47,425,307...47,621,012 		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 ISO ClinVar Annotator: match by term: Bilateral microtia-deafness-cleft palate syndrome ClinVar PMID:25741868 NCBI chr14:40,267,033...40,272,212
Ensembl chr14:40,267,528...40,269,681 		JBrowse link
G HOXA2 homeobox A2 ISO ClinVar Annotator: match by term: Bilateral microtia-deafness-cleft palate syndrome | ClinVar Annotator: match by term: Microtia with or without hearing impairment OMIM
ClinVar		 PMID:18394579 PMID:23775976 PMID:25691070 PMID:25741868 NCBI chr14:40,273,992...40,276,975
Ensembl chr14:40,274,469...40,276,239 		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 ISO ClinVar Annotator: match by term: AMMECR1-related condition | ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis OMIM
ClinVar		 PMID:21681106 PMID:25741868 PMID:27811305 PMID:28089922 PMID:28492532 More... NCBI chr  X:83,401,728...83,517,565
Ensembl chr  X:83,406,049...83,517,498 		JBrowse link
G LOC111092907 teratocarcinoma-derived growth factor 1-like ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr27:20,747,711...20,748,145 JBrowse link
G RTL9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:83,639,071...83,650,359
Ensembl chr  X:83,643,872...83,650,356 		JBrowse link
G TMEM164 transmembrane protein 164 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar PMID:21681106 PMID:27811305 PMID:28089922 NCBI chr  X:83,219,530...83,384,900
Ensembl chr  X:83,219,505...83,381,564 		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 ISO ClinVar Annotator: match by term: Mitchell syndrome OMIM
ClinVar		 PMID:8040306 PMID:16199547 PMID:17458872 PMID:25741868 PMID:28492532 More... NCBI chr 9:4,658,692...4,682,667
Ensembl chr 9:4,658,090...4,679,096 		JBrowse link
Mitochondrial Myopathy with Lactic Acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA8 patatin like phospholipase domain containing 8 ISO ClinVar Annotator: match by term: PNPLA8-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr18:12,134,921...12,181,496
Ensembl chr18:12,141,830...12,179,974 		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 ISO 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 OMIM
ClinVar		 PMID:8627443 PMID:16199547 PMID:18414213 PMID:19409522 PMID:20593814 More... NCBI chr 6:38,948,927...38,951,300
Ensembl chr 6:38,949,484...38,951,703 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Myopathy, progressive axial with cataracts ClinVar PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 More... NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493 		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 ISO ClinVar Annotator: match by term: Cardiospondylocarpofacial syndrome OMIM
ClinVar		 PMID:20186786 PMID:25741868 PMID:27426733 PMID:27426734 PMID:28492532 More... NCBI chr12:49,669,849...49,740,039
Ensembl chr12:49,672,389...49,739,850 		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 ISO RGD PMID:22146561 RGD:6906895 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar Annotator: match by term: UDA syndrome OMIM
ClinVar		 PMID:49161 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 More... NCBI chr 8:251,776...313,290
Ensembl chr 8:253,407...313,059 		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 ISO ClinVar Annotator: match by term: Multiple epiphyseal dysplasia, Beighton type OMIM
ClinVar		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733 		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 ISO 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 chr 9:5,567,411...5,577,427
Ensembl chr 9:5,567,328...5,577,277 		JBrowse link
G GRIN2C glutamate ionotropic receptor NMDA type subunit 2C ISO ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 9A ClinVar PMID:25741868 NCBI chr 9:5,582,404...5,595,540
Ensembl chr 9:5,576,681...5,595,146 		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 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar PMID:25741868 NCBI chr25:16,630,321...16,665,935
Ensembl chr25:16,632,812...16,663,550 		JBrowse link
G GDF5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar NCBI chr24:24,395,699...24,400,302
Ensembl chr24:24,395,263...24,399,928 		JBrowse link
G NOG noggin ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome OMIM
ClinVar		 PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 More... NCBI chr 9:31,453,604...31,456,060 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 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome OMIM
ClinVar		 PMID:25741868 PMID:32403198 PMID:35869884 NCBI chr 4:4,590,302...4,602,307
Ensembl chr 4:4,592,262...4,602,077 		JBrowse link
MYH-9 related disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH9 myosin heavy chain 9 ISO
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: Sebastian platelet syndrome
May-Hegglin anomaly 		OMIM
ClinVar
OMIA		 PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:9536098 More... NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953 		JBrowse link
G TUBB1 tubulin beta 1 class VI ISO ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ClinVar PMID:25741868 NCBI chr24:43,759,078...43,768,556
Ensembl chr24:43,759,555...43,771,737 		JBrowse link
NEURODEGENERATION, EARLY-CHILDHOOD-ONSET, WITH RETINITIS PIGMENTOSA, SENSORINEURAL HEARING LOSS, AND DEMYELINATING PERIPHERAL NEUROPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLC4 kinesin light chain 4 ISO ClinVar Annotator: match by term: Early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy ClinVar
OMIM		 PMID:26423925 NCBI chr12:11,578,674...11,591,728
Ensembl chr12:11,578,893...11,591,727 		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 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hearing loss and spasticity | ClinVar Annotator: match by term: SPATA5L1-associated disorder OMIM
ClinVar		 PMID:25741868 PMID:26138355 PMID:28492532 PMID:34626583 PMID:37902276 More... NCBI chr30:11,767,166...11,788,402
Ensembl chr30:11,767,064...11,788,398 		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 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr19:17,728,106...17,826,412
Ensembl chr19:17,728,281...17,826,185 		JBrowse link
G AFG2A AFG2 AAA ATPase homolog A ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25640679 PMID:25741868 More... NCBI chr19:17,020,337...17,371,396
Ensembl chr19:16,994,661...17,463,151 		JBrowse link
G ANXA5 annexin A5 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr19:18,419,936...18,450,088
Ensembl chr19:18,407,587...18,570,378 		JBrowse link
G BBS12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:26299366 PMID:28492532 NCBI chr19:17,537,840...17,550,443
Ensembl chr19:17,538,346...17,540,487 		JBrowse link
G BBS7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr19:18,280,487...18,319,128
Ensembl chr19:18,280,520...18,315,825 		JBrowse link
G BLTP1 bridge-like lipid transfer protein family member 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr19:17,841,450...18,047,002
Ensembl chr19:17,841,967...18,044,276 		JBrowse link
G CCNA2 cyclin A2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr19:18,317,866...18,324,592
Ensembl chr19:18,318,004...18,323,691 		JBrowse link
G EXOSC9 exosome component 9 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr19:18,324,117...18,336,628
Ensembl chr19:18,324,119...18,336,602 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:26299366 PMID:28492532 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151 		JBrowse link
G IL2 interleukin 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394 		JBrowse link
G IL21 interleukin 21 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr19:17,641,833...17,651,275
Ensembl chr19:17,641,833...17,651,266 		JBrowse link
G NDNF neuron derived neurotrophic factor ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr19:19,009,966...19,053,047
Ensembl chr19:19,036,372...19,049,937 		JBrowse link
G NUDT6 nudix hydrolase 6 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:26299366 PMID:28492532 NCBI chr19:17,371,589...17,403,182
Ensembl chr19:17,371,841...17,402,911 		JBrowse link
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr19:19,129,418...19,327,377
Ensembl chr19:19,129,081...19,325,590 		JBrowse link
G QRFPR pyroglutamylated RFamide peptide receptor ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr19:18,717,060...18,769,733
Ensembl chr19:18,717,339...18,767,061 		JBrowse link
G SMIM43 small integral membrane protein 43 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr19:18,368,083...18,374,817
Ensembl chr19:18,368,064...18,368,255 		JBrowse link
G SPRY1 sprouty RTK signaling antagonist 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr19:16,969,869...16,976,573
Ensembl chr19:16,970,904...16,972,089 		JBrowse link
G TNIP3 TNFAIP3 interacting protein 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr19:18,857,719...18,960,760
Ensembl chr19:18,853,168...18,960,760 		JBrowse link
G TRPC3 transient receptor potential cation channel subfamily C member 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr19:18,207,565...18,272,551
Ensembl chr19:18,207,417...18,271,828 		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 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss ClinVar PMID:35861243 NCBI chr 8:61,285,998...61,332,518
Ensembl chr 8:61,286,950...61,332,431 		JBrowse link
G PSMC1 proteasome 26S subunit, ATPase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss ClinVar
OMIM		 PMID:35861243 NCBI chr 8:61,272,363...61,285,886
Ensembl chr 8:61,272,363...61,285,886 		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 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:13680526 PMID:19477959 PMID:30311386 NCBI chr 9:635,978...638,328
Ensembl chr 9:635,978...638,328 		JBrowse link
G B3GNT4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr26:7,145,120...7,147,732
Ensembl chr26:7,145,262...7,146,335 		JBrowse link
G CABP2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:24033266 PMID:25741868 PMID:26445815 PMID:28492532 NCBI chr18:49,960,656...49,963,889
Ensembl chr18:49,959,544...49,964,268 		JBrowse link
G CCDC50 coiled-coil domain containing 50 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr34:23,168,594...23,243,221
Ensembl chr34:23,168,525...23,258,497 		JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:15660226 PMID:16679490 PMID:17850630 PMID:18429043 PMID:19683999 More... NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131 		JBrowse link
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:25589040 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29703829 More... NCBI chr 1:110,652,362...110,661,173
Ensembl chr 1:110,652,584...110,660,334 		JBrowse link
G CGN cingulin ISO ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:25741868 NCBI chr17:60,553,423...60,578,804
Ensembl chr17:60,559,116...60,578,705 		JBrowse link
G CLDN14 claudin 14 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr31:31,677,410...31,725,794
Ensembl chr31:31,677,733...31,678,446 		JBrowse link
G CLDN9 claudin 9 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:25741868 PMID:34265170 NCBI chr 6:38,172,035...38,174,089
Ensembl chr 6:38,172,550...38,173,203 		JBrowse link
G COCH cochlin ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:9931344 PMID:10400989 PMID:11332404 PMID:14512963 PMID:16151338 More... NCBI chr 8:10,215,101...10,230,017
Ensembl chr 8:10,214,536...10,233,550 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:24033266 PMID:25633957 PMID:25741868 PMID:28492532 NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:28492532 PMID:30311386 NCBI chr  X:81,982,119...82,248,428
Ensembl chr  X:81,982,275...82,247,679 		JBrowse link
G CRYL1 crystallin lambda 1 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:11807148 PMID:12917317 PMID:14571368 PMID:14681039 PMID:15994881 More... NCBI chr25:17,551,586...17,733,754
Ensembl chr25:17,562,926...17,733,630 		JBrowse link
G DCDC2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:16244493 PMID:25601850 NCBI chr35:22,264,484...22,422,769
Ensembl chr35:22,266,282...22,422,776 		JBrowse link
G DIABLO diablo IAP-binding mitochondrial protein ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr26:7,125,320...7,144,884
Ensembl chr26:7,125,405...7,144,308 		JBrowse link
G DMXL2 Dmx like 2 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 PMID:28492532 PMID:32870266 NCBI chr30:17,156,077...17,308,641
Ensembl chr30:17,156,791...17,308,803 		JBrowse link
G EYA4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:30311386 NCBI chr 1:26,208,514...26,514,601
Ensembl chr 1:26,272,448...26,514,201 		JBrowse link
G GIPC3 GIPC PDZ domain containing family member 3 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr20:55,833,876...55,837,621 JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289 		JBrowse link
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr15:7,175,010...7,177,145 JBrowse link
G GJB6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:11807148 PMID:12917317 PMID:14571368 PMID:14681039 PMID:15994881 More... NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605 		JBrowse link
G GSDME gasdermin E ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:7427029 PMID:15173223 PMID:17427029 PMID:24033266 PMID:28492532 More... NCBI chr14:38,210,975...38,286,729
Ensembl chr14:38,211,540...38,292,280 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr33:25,207,537...25,238,071
Ensembl chr33:25,207,572...25,237,949 		JBrowse link
G KARS1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:21181198 PMID:23768514 PMID:24824130 PMID:25741868 NCBI chr 5:75,172,976...75,188,197
Ensembl chr 5:75,173,032...75,188,197 		JBrowse link
G KCNQ4 potassium voltage-gated channel subfamily Q member 4 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:8035838 PMID:10025409 PMID:10369879 PMID:18786918 PMID:20832469 More... NCBI chr15:2,203,938...2,257,152
Ensembl chr15:2,205,276...2,242,093 		JBrowse link
G KLC2 kinesin light chain 2 ISO MouseDO NCBI chr18:51,035,013...51,045,629
Ensembl chr18:51,035,705...51,045,595 		JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:23541342 PMID:28492532 PMID:30311386 PMID:30737337 NCBI chr20:42,891,823...43,080,987
Ensembl chr20:42,892,801...43,081,197 		JBrowse link
G LHFPL5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr12:4,919,732...4,936,823
Ensembl chr12:4,902,832...4,936,413 		JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:19732867 PMID:21465660 PMID:22975204 PMID:23226338 PMID:24033266 More... NCBI chr 7:44,662,800...44,828,405
Ensembl chr 7:44,663,182...44,826,858 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive ClinVar PMID:25741868 PMID:25941349 PMID:28492532 NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027 		JBrowse link
G MITF melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:8659547 PMID:20127975 PMID:25741868 PMID:28492532 PMID:28690485 More... NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578 		JBrowse link
G MPDZ multiple PDZ domain crumbs cell polarity complex component ISO ClinVar Annotator: match by term: Nonsyndromic hearing impairment ClinVar PMID:28492532 NCBI chr11:33,691,434...33,826,500
Ensembl chr11:33,692,296...33,826,437 		JBrowse link
G MSX1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356075 NCBI chr 3:70,232,790...70,236,295
Ensembl chr 3:70,232,052...70,236,447 		JBrowse link
G MYH14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr 1:106,371,952...106,460,388
Ensembl chr 1:106,371,939...106,458,901 		JBrowse link
G MYO15A myosin XVA ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:7704031 PMID:9603736 PMID:11735029 PMID:17546645 PMID:19274735 More... NCBI chr 5:41,369,484...41,421,303
Ensembl chr 5:41,370,509...41,392,881 		JBrowse link
G MYO3A myosin IIIA ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:25741868 PMID:29880844 PMID:34788109 NCBI chr 2:7,455,125...7,695,483
Ensembl chr 2:7,455,625...7,696,043 		JBrowse link
G MYO6 myosin VI ISO ClinVar Annotator: match by term: 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 chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: 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 chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279 		JBrowse link
G OTOA otoancorin ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:23,106,650...23,175,159
Ensembl chr 6:23,106,804...23,168,380 		JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: 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 chr17:20,518,480...20,619,713
Ensembl chr17:20,518,813...20,614,750 		JBrowse link
G OTOG otogelin ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:24033266 NCBI chr21:40,103,163...40,193,680
Ensembl chr21:40,106,826...40,192,475 		JBrowse link
G OTOGL otogelin like ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:16199547 PMID:23122586 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:22,623,183...22,754,605
Ensembl chr15:22,556,295...22,753,956 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:25741868 PMID:28281779 PMID:28492532 NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017 		JBrowse link
G PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 PMID:30311386 NCBI chr28:13,693,032...13,711,654
Ensembl chr28:13,693,023...13,711,784 		JBrowse link
G POU3F4 POU class 3 homeobox 4 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:24033266 PMID:33976695 NCBI chr  X:64,427,161...64,428,825
Ensembl chr  X:64,427,325...64,428,410 		JBrowse link
G PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 ISO MouseDO NCBI chr 3:8,013,879...8,083,177
Ensembl chr 3:8,002,012...8,087,684 		JBrowse link
G RDX radixin ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr 5:22,555,913...22,642,822
Ensembl chr 5:22,571,286...22,642,811 		JBrowse link
G RIPOR2 RHO family interacting cell polarization regulator 2 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr35:22,823,053...23,041,765
Ensembl chr35:22,824,106...23,041,743 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:15355436 PMID:16570074 PMID:19017801 PMID:19509082 PMID:21045265 More... NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212 		JBrowse link
G SLC44A4 solute carrier family 44 member 4 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr12:1,328,276...1,340,752
Ensembl chr12:1,328,399...1,340,778 		JBrowse link
G STRC stereocilin ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:22147502 PMID:24033266 PMID:25741868 PMID:26969326 PMID:29425068 More... NCBI chr30:10,444,726...10,459,058
Ensembl chr30:10,444,793...10,460,785 		JBrowse link
G SYNE4 spectrin repeat containing nuclear envelope family member 4 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:16199547 PMID:23348741 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 1:116,676,365...116,686,911
Ensembl chr 1:116,670,841...116,680,515 		JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO DNA:mutations:cds:c.457G>A(p.E53K),c.641G>A(p.R214H),c.1316delT(p.V439Vfs32)(human) RGD PMID:26371875 RGD:11098120 NCBI chr 6:38,531,547...38,557,472 JBrowse link
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:11087000 PMID:12162770 PMID:12746400 PMID:16718611 PMID:17431902 More... NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147 		JBrowse link
G TGFA transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356075 NCBI chr10:68,915,671...68,957,027 JBrowse link
G TGFB3 transforming growth factor beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356075 NCBI chr 8:48,920,874...48,946,037
Ensembl chr 8:48,923,423...48,945,816 		JBrowse link
G TMC1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness
ClinVar Annotator: match by term: Non-syndromic genetic deafness 		ClinVar PMID:9536098 PMID:16134132 PMID:16287143 PMID:17576681 PMID:18616530 More... NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369 		JBrowse link
G TMPRSS3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:11907649 PMID:12920079 PMID:15447792 PMID:16021470 PMID:16283880 More... NCBI chr31:36,706,229...36,730,444
Ensembl chr31:36,707,723...36,730,520 		JBrowse link
G TNC tenascin C ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr11:69,077,532...69,169,673
Ensembl chr11:69,077,535...69,170,281 		JBrowse link
G TRIOBP TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:16385458 PMID:24033266 PMID:25741868 NCBI chr10:26,856,981...26,913,330
Ensembl chr10:26,857,678...26,911,083 		JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:2525289 PMID:10729113 PMID:10909849 PMID:12525556 PMID:15823922 More... NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:16648378 PMID:17492394 PMID:18544103 PMID:20301750 PMID:21917145 More... NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827 		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 ISO ClinVar Annotator: match by term: DFNM1 OMIM
ClinVar		 PMID:29408807 NCBI chr 7:27,159,425...27,175,144 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 ISO ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment ClinVar PMID:18429043 PMID:21228398 PMID:21569298 PMID:22135276 PMID:22995991 More... NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131 		JBrowse link
G COCH cochlin ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr 8:10,215,101...10,230,017
Ensembl chr 8:10,214,536...10,233,550 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814 		JBrowse link
G EYA4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr 1:26,208,514...26,514,601
Ensembl chr 1:26,272,448...26,514,201 		JBrowse link
G GJA1 gap junction protein alpha 1 ISO DNA:mutations:cds:c.30C>T,c.71T>G(human) RGD PMID:11741837 RGD:1578475 NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936 		JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant | ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss ClinVar PMID:10376574 PMID:11102979 PMID:11216656 PMID:11313763 PMID:11493200 More... NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289 		JBrowse link
G GJB3 gap junction protein beta 3 no_association ISO DNA:missense mutation, SNPs:exon:p.R32W (94C>T), C357C>T, 798C>T (human)
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant 		RGD
ClinVar		 PMID:15276679 RGD:12050154 NCBI chr15:7,175,010...7,177,145 JBrowse link
G GJB6 gap junction protein beta 6 no_association ISO DNA:del:cds:del(GJB6-D13S1830)
DNA:del::GJB6-D13S1854(human)
DNA:mutations:multiple: 		RGD PMID:20022641 PMID:21227513 PMID:22186156 PMID:23554706 PMID:23668481 RGD:7364803 RGD:7364812 RGD:7364817 RGD:7364891 RGD:7364892 NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605 		JBrowse link
G MYH14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:28492532 NCBI chr 1:106,371,952...106,460,388
Ensembl chr 1:106,371,939...106,458,901 		JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953 		JBrowse link
G MYO1A myosin IA ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 NCBI chr10:1,159,816...1,194,452
Ensembl chr10:1,159,812...1,193,153 		JBrowse link
G MYO3A myosin IIIA ISO ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss ClinVar PMID:25741868 PMID:29880844 PMID:34788109 NCBI chr 2:7,455,125...7,695,483
Ensembl chr 2:7,455,625...7,696,043 		JBrowse link
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279 		JBrowse link
G OTOA otoancorin ISO ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 6:23,106,650...23,175,159
Ensembl chr 6:23,106,804...23,168,380 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment ClinVar PMID:23804846 PMID:25741868 PMID:26226137 PMID:28492532 PMID:30029624 NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017 		JBrowse link
G PNPT1 polyribonucleotide nucleotidyltransferase 1 ISO DNA:missense mutation:cds:c.1424A>G(p.E475G)(human) RGD PMID:23084290 RGD:11554169 NCBI chr10:56,478,771...56,520,992
Ensembl chr10:56,478,680...56,520,967 		JBrowse link
G POU4F3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:28492532 NCBI chr 2:40,762,499...40,764,131
Ensembl chr 2:40,762,477...40,765,161 		JBrowse link
G SIX1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr 8:35,676,705...35,679,534
Ensembl chr 8:35,676,479...35,679,534 		JBrowse link
G SLC17A8 solute carrier family 17 member 8 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:25741868 NCBI chr15:39,443,790...39,489,988
Ensembl chr15:39,443,518...39,486,595 		JBrowse link
G SLC26A5 solute carrier family 26 member 5 ISO DNA:snp:intron:IVS2-2A>G (human) RGD PMID:23554706 RGD:7364803 NCBI chr18:16,783,795...16,841,946
Ensembl chr18:16,788,759...16,839,940 		JBrowse link
G STRC stereocilin ISO ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss ClinVar PMID:25741868 NCBI chr30:10,444,726...10,459,058
Ensembl chr30:10,444,793...10,460,785 		JBrowse link
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:25741868 NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147 		JBrowse link
G TJP2 tight junction protein 2 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 1:88,126,134...88,251,018
Ensembl chr 1:88,126,136...88,230,654 		JBrowse link
G TMC1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369 		JBrowse link
G TMTC2 transmembrane O-mannosyltransferase targeting cadherins 2 susceptibility ISO DNA:SNP:exon:rs35725509(human) RGD PMID:27311106 RGD:11252147 NCBI chr15:24,629,610...25,017,936
Ensembl chr15:24,629,157...25,016,555 		JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment ClinVar PMID:28492532 PMID:30029624 NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:12955714 PMID:17603484 PMID:18060660 PMID:20301750 PMID:20738327 More... NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827 		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 ISO OMIM:103470 MouseDO NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578 		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 ISO ClinVar Annotator: match by term: Odontochondrodysplasia 2 with hearing loss and diabetes OMIM
ClinVar		 PMID:25741868 NCBI chr38:16,880,411...16,936,368
Ensembl chr38:16,879,740...16,935,844 		JBrowse link
Osteootohepatoenteric Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UNC45A unc-45 myosin chaperone A ISO 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 chr 3:53,294,628...53,307,759
Ensembl chr 3:53,295,197...53,309,067 		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 ISO ClinVar Annotator: match by term: Insley-Astley syndrome | ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive OMIM
ClinVar		 PMID:7859284 PMID:9188673 PMID:9536098 PMID:10677296 PMID:15558753 More... NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814 		JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive ClinVar PMID:25326635 PMID:25741868 NCBI chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733 		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 ISO ClinVar Annotator: match by term: Hereditary palmoplantar keratoderma ClinVar PMID:25741868 NCBI chr 7:58,159,283...58,239,018
Ensembl chr 7:58,102,113...58,193,708 		JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Keratoderma palmoplantar, with deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome OMIM
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome ClinVar PMID:127819 PMID:6213205 PMID:7219534 PMID:7987332 PMID:8019558 More... NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893 		JBrowse link
Paragangliomas with Sensorineural Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SDHD succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Paragangliomas with sensorineural hearing loss ClinVar PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 More... NCBI chr 5:21,030,295...21,041,125 JBrowse link
Pendred syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN9 claudin 9 ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 PMID:35802133 PMID:36633841 NCBI chr 6:38,172,035...38,174,089
Ensembl chr 6:38,172,550...38,173,203 		JBrowse link
G DIAPH1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chr 2:36,483,781...36,581,390
Ensembl chr 2:36,485,571...36,581,320 		JBrowse link
G FOXI1 forkhead box I1 ISO ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:17503324 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 4:41,760,899...41,764,887
Ensembl chr 4:41,761,016...41,764,836 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:19289823 PMID:20651251 PMID:20678478 PMID:20807765 PMID:21088294 More... NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:24033266 PMID:28492532 PMID:30311386 PMID:30718709 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279 		JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chr17:20,518,480...20,619,713
Ensembl chr17:20,518,813...20,614,750 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B | ClinVar Annotator: match by term: Pendred syndrome | ClinVar Annotator: match by term: Pendred's syndrome | ClinVar Annotator: match by term: SLC26A4-related condition
ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B | ClinVar Annotator: match by term: Pendred syndrome | ClinVar Annotator: match by term: SLC26A4-related condition | ClinVar Annotator: match by term: THYROID DYSHORMONOGENESIS 2B 		OMIM
ClinVar		 PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More... NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212 		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 ISO OMIM NCBI chr 1:106,371,952...106,460,388
Ensembl chr 1:106,371,939...106,458,901 		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 ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24824130 NCBI chr20:53,788,114...53,794,217
Ensembl chr20:53,788,164...53,794,174 		JBrowse link
G ERAL1 Era like 12S mitochondrial rRNA chaperone 1 ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:28449065 NCBI chr 9:43,025,743...43,030,728
Ensembl chr 9:43,025,782...43,030,578 		JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:517579 PMID:21464306 PMID:25741868 PMID:28492532 PMID:31827252 NCBI chr 2:35,843,611...35,851,257
Ensembl chr 2:35,843,706...35,850,760 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 More... NCBI chr11:8,717,182...8,810,716
Ensembl chr11:8,717,349...8,824,594 		JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chr20:42,891,823...43,080,987
Ensembl chr20:42,892,801...43,081,197 		JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:26970254 More... NCBI chr28:13,672,772...13,680,732
Ensembl chr28:13,676,304...13,680,044 		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 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:30311386 NCBI chr20:53,788,114...53,794,217
Ensembl chr20:53,788,164...53,794,174 		JBrowse link
G DAP3 death associated protein 3 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:39701103 NCBI chr 7:42,011,485...42,045,900
Ensembl chr 7:42,011,506...42,026,894 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:25741868 NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151 		JBrowse link
G FSHR follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Gonadal dysgenesis XX type deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr10:50,765,591...50,938,643
Ensembl chr10:50,770,995...50,938,474 		JBrowse link
G GPN2 GPN-loop GTPase 2 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 2:73,251,139...73,261,806
Ensembl chr 2:73,251,303...73,259,636 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ISO ClinVar Annotator: match by term: HSD17B4-related condition | ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Perrault syndrome 1 OMIM
ClinVar		 PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 More... NCBI chr11:8,717,182...8,810,716
Ensembl chr11:8,717,349...8,824,594 		JBrowse link
G LOC490422 GON-4-like protein ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 7:41,927,667...42,000,649 JBrowse link
G MRPL49 mitochondrial ribosomal protein L49 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:40043708 NCBI chr18:52,068,576...52,072,642
Ensembl chr18:52,069,605...52,072,591 		JBrowse link
G PRORP protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:34715011 PMID:37558808 NCBI chr 8:13,885,734...14,007,224 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 ISO ClinVar Annotator: match by term: HARS2-related condition | ClinVar Annotator: match by term: Perrault syndrome 2 OMIM
ClinVar		 PMID:517579 PMID:16199547 PMID:21464306 PMID:24033266 PMID:25741868 More... NCBI chr 2:35,843,611...35,851,257
Ensembl chr 2:35,843,706...35,850,760 		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 ISO ClinVar Annotator: match by term: CLPP-related condition | ClinVar Annotator: match by term: Perrault syndrome 3 OMIM
ClinVar		 PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:23851121 More... NCBI chr20:53,788,114...53,794,217
Ensembl chr20:53,788,164...53,794,174 		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 ISO ClinVar Annotator: match by term: Perrault syndrome 4 OMIM
ClinVar		 PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chr20:42,891,823...43,080,987
Ensembl chr20:42,892,801...43,081,197 		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 ISO ClinVar Annotator: match by term: Perrault syndrome 5 OMIM
ClinVar		 PMID:18593709 PMID:21270786 PMID:25355836 PMID:25741868 PMID:26467025 More... NCBI chr28:13,672,772...13,680,732
Ensembl chr28:13,676,304...13,680,044 		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 ISO ClinVar Annotator: match by term: Perrault syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:28449065 NCBI chr 9:43,025,743...43,030,728
Ensembl chr 9:43,025,782...43,030,578 		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 ISO ClinVar Annotator: match by term: Perrault syndrome 7 OMIM
ClinVar		 PMID:39701103 NCBI chr 7:42,011,485...42,045,900
Ensembl chr 7:42,011,506...42,026,894 		JBrowse link
Presbycusis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP4 aquaporin 4 severity ISO RGD PMID:19070604 RGD:8695953 NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089 		JBrowse link
G BDNF brain derived neurotrophic factor ISO mRNA:decreased expression:cochlea RGD PMID:17168119 RGD:8655551 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480 		JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D ISO mRNA, protein:decreased expression:cochlea RGD PMID:23470431 RGD:10045570 NCBI chr20:36,189,986...36,488,460
Ensembl chr20:36,191,810...36,613,686 		JBrowse link
G CAT catalase ISO RGD PMID:11678164 RGD:8655636 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447 		JBrowse link
G CDH23 cadherin related 23 no_association ISO DNA:SNP:intron:g.72996763C>T (rs7087735) (human) RGD PMID:12910270 PMID:22581638 RGD:737781 RGD:8662287 NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131 		JBrowse link
G EDN1 endothelin 1 susceptibility ISO DNA:missense mutation:cds:p.L198N (rs5370) (human) RGD PMID:19358249 RGD:8661662 NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383 		JBrowse link
G HSPB1 heat shock protein family B (small) member 1 ISO RGD PMID:24587312 RGD:10402574 NCBI chr 6:7,487,164...7,488,576
Ensembl chr 6:7,487,250...7,488,576 		JBrowse link
G IL1R2 interleukin 1 receptor type 2 ISO RGD PMID:22652460 RGD:8662870 NCBI chr10:40,967,532...41,003,659
Ensembl chr10:40,896,669...41,034,113 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO RGD PMID:21664445 RGD:8694161 NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544 		JBrowse link
G SIRT3 sirtuin 3 ISO protein:decreased expression:auditory cortex: RGD PMID:24505357 RGD:8158103 NCBI chr18:25,369,183...25,388,126
Ensembl chr18:25,369,382...25,388,118 		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 chr18:16,783,795...16,841,946
Ensembl chr18:16,788,759...16,839,940 		JBrowse link
G SOD1 superoxide dismutase 1 severity ISO mRNA:increased expression:cochlea (mouse) RGD PMID:10464373 PMID:11678164 RGD:8655636 RGD:8655665 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815 		JBrowse link
G SOD2 superoxide dismutase 2 ISO protein:decreased expression,decreased activity:auditory cortex: RGD PMID:24505357 RGD:8158103 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO DNA:mutation:cds:c.533C>T (p.S178L)(human) RGD PMID:24729539 RGD:11537394 NCBI chr 6:38,531,547...38,557,472 JBrowse link
G TYR tyrosinase treatment
onset 		ISO associated with Albinism; RGD PMID:19141317 PMID:19843244 RGD:8694324 RGD:8694327 NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191 		JBrowse link
retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C4H10orf105 chromosome 4 C10orf105 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:22,472,365...22,478,931 JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:12075507 PMID:16963483 PMID:18429043 PMID:19683999 PMID:21174530 More... NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131 		JBrowse link
G CRB1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 More... NCBI chr 7:5,277,394...5,490,542
Ensembl chr 7:5,277,394...5,490,470 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017 		JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848 		JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430 		JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:25741868 NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900 		JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444 		JBrowse link
G VSIR V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:25741868 NCBI chr 4:22,504,888...22,530,702
Ensembl chr 4:22,459,363...22,530,687 		JBrowse link
G WHRN whirlin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:21569298 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977 		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 ISO ClinVar Annotator: match by term: Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction OMIM
ClinVar		 PMID:8279480 PMID:17486094 PMID:21378381 PMID:24741716 PMID:25741868 More... NCBI chr13:3,774,725...3,838,576
Ensembl chr13:3,799,025...3,837,934 		JBrowse link
Sensorineural Deafness with Hypertrophic Cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome ClinVar PMID:15060111 PMID:18212818 PMID:18348273 PMID:24033266 PMID:28492532 NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724 		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 ISO 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 5:54,225,393...54,239,305
Ensembl chr 5:54,225,389...54,237,110 		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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16685646 NCBI chr 6:12,421,006...12,424,449
Ensembl chr 6:12,418,932...12,462,845 		JBrowse link
G ADPRS ADP-ribosylserine hydrolase ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar NCBI chr15:6,116,516...6,122,330
Ensembl chr15:6,116,500...6,123,798 		JBrowse link
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:28492532 PMID:32219868 NCBI chr 7:77,749,029...77,787,466
Ensembl chr 7:77,737,808...77,787,472 		JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25590979 PMID:25741868 PMID:28492532 PMID:28967629 PMID:31523922 NCBI chr  X:101,275,027...101,307,551
Ensembl chr  X:101,275,017...101,307,367 		JBrowse link
G APOE apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:17454231 RGD:7771593 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440 		JBrowse link
G ATF6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:25741868 PMID:26029869 PMID:28028229 PMID:28492532 NCBI chr38:20,705,167...20,903,852
Ensembl chr38:20,709,038...20,903,814 		JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr17:53,828,482...53,847,043
Ensembl chr17:53,813,976...53,847,167 		JBrowse link
G ATP1B1 ATPase Na+/K+ transporting subunit beta 1 ISO protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr 7:29,464,132...29,487,124
Ensembl chr 7:29,464,132...29,487,947 		JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO DNA:mutation, deletion:exon:p.Q33X (human) RGD PMID:24011989 RGD:7483567 NCBI chr  X:121,515,417...121,550,373
Ensembl chr  X:121,507,084...121,545,263 		JBrowse link
G BDNF brain derived neurotrophic factor ISO mRNA,protein:increased expression:inferior colliculus: RGD PMID:20598895 RGD:8655560 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480 		JBrowse link
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 8:72,588,578...72,632,259
Ensembl chr 8:72,588,693...72,632,263 		JBrowse link
G BSND barttin CLCNK type accessory subunit beta ISO Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon RGD PMID:11687798 RGD:1600603 NCBI chr 5:54,225,393...54,239,305
Ensembl chr 5:54,225,389...54,237,110 		JBrowse link
G CARMIL1 capping protein regulator and myosin 1 linker 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr35:23,268,438...23,581,794
Ensembl chr35:23,268,723...23,581,403 		JBrowse link
G CAT catalase ISO RGD PMID:15109710 RGD:8547516 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447 		JBrowse link
G CDC14A cell division cycle 14A ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 6:49,429,675...49,678,376
Ensembl chr 6:49,497,939...49,693,665 		JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:22899989 PMID:25741868 PMID:25963016 PMID:28492532 PMID:30303587 NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131 		JBrowse link
G CEP78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 NCBI chr 1:80,437,902...80,469,383
Ensembl chr 1:80,438,695...80,469,350 		JBrowse link
G CLCN3 chloride voltage-gated channel 3 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr25:20,528,708...20,616,687
Ensembl chr25:20,528,699...20,615,070 		JBrowse link
G CLDN14 claudin 14 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr31:31,677,410...31,725,794
Ensembl chr31:31,677,733...31,678,446 		JBrowse link
G COCH cochlin ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:16261627 PMID:19461658 PMID:25780252 PMID:28492532 PMID:30311386 More... NCBI chr 8:10,215,101...10,230,017
Ensembl chr 8:10,214,536...10,233,550 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:28492532 NCBI chr 6:47,425,387...47,622,189
Ensembl chr 6:47,425,307...47,621,012 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814 		JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16189708 NCBI chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733 		JBrowse link
G COL9A1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr12:32,763,782...32,847,456
Ensembl chr12:32,764,496...32,847,574 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:25741868 PMID:28492532 NCBI chr24:46,653,400...46,669,183
Ensembl chr24:46,662,376...46,667,884 		JBrowse link
G COX18 cytochrome c oxidase assembly factor COX18 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr13:61,875,507...61,888,068
Ensembl chr13:61,877,194...61,888,387 		JBrowse link
G DBH dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 9:50,004,806...50,024,130
Ensembl chr 9:50,004,806...50,024,130 		JBrowse link
G DIAPH1 diaphanous related formin 1 susceptibility ISO autosomal dominant nonsyndromic sensorineural deafness 1, OMIM:124900;DNA:splice-site mutation RGD PMID:9360932 RGD:1601058 NCBI chr 2:36,483,781...36,581,390
Ensembl chr 2:36,485,571...36,581,320 		JBrowse link
G DLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO DNA:polymorphism: :DRB1*0301(human) RGD PMID:8712634 RGD:7365101 NCBI chr12:2,151,409...2,164,564 JBrowse link
G DLA88 MHC class I DLA-88 ISO associated with Behcet Syndrome; DNA:polymorphism:cds:HLA-B51 (human) RGD PMID:15855027 RGD:7364915 NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690 		JBrowse link
G DPT dermatopontin ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr 7:29,830,415...29,855,479
Ensembl chr 7:29,830,415...29,857,061 		JBrowse link
G EDN3 endothelin 3 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr24:44,024,553...44,054,727
Ensembl chr24:44,033,419...44,054,050 		JBrowse link
G EDNRB endothelin receptor type B ISO DNA:mutation:cds: RGD PMID:21915282 RGD:6480217 NCBI chr22:31,415,324...31,438,772
Ensembl chr22:31,417,308...31,437,587 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO RGD PMID:25762674 RGD:11567237 NCBI chr28:1,358,383...1,432,276
Ensembl chr28:1,361,107...1,427,162 		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 2:47,502,777...47,559,012
Ensembl chr 2:47,503,762...47,558,889 		JBrowse link
G ESPN espin ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676 		JBrowse link
G EYA4 EYA transcriptional coactivator and phosphatase 4 ISO DNA:deletion:introns, exon (human) RGD PMID:15735644 RGD:1598455 NCBI chr 1:26,208,514...26,514,601
Ensembl chr 1:26,272,448...26,514,201 		JBrowse link
G F2 coagulation factor II, thrombin no_association ISO DNA:transition: :20210G>A(human)
associated with Stroke
DNA:transition: :20210G>A (human) 		RGD PMID:16572609 PMID:17334320 PMID:18636032 RGD:7387240 RGD:7387261 RGD:7387268 NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459 		JBrowse link
G F5 coagulation factor V no_association ISO DNA:SNP: :1691G>A (human)
DNA:mutation 		RGD PMID:16015153 PMID:16572609 RGD:7387240 RGD:7387260 NCBI chr 7:28,999,481...29,069,603
Ensembl chr 7:28,999,512...29,069,296 		JBrowse link
G FADD Fas associated via death domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chr18:48,087,447...48,094,497 JBrowse link
G FGF3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chr18:48,382,819...48,388,453
Ensembl chr18:48,383,222...48,389,009 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:19461658 PMID:30311386 PMID:34652575 NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621 		JBrowse link
G FOXP4 forkhead box P4 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr12:10,239,402...10,292,892
Ensembl chr12:10,258,166...10,291,125 		JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:28492532 NCBI chr 4:49,006,981...49,065,205
Ensembl chr 4:49,009,495...49,062,581 		JBrowse link
G GABRR2 gamma-aminobutyric acid type A receptor subunit rho2 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr12:48,492,607...48,537,961
Ensembl chr12:48,431,379...48,538,037 		JBrowse link
G GAS2 growth arrest specific 2 ISO MouseDO NCBI chr21:44,277,996...44,406,210
Ensembl chr21:44,286,531...44,405,060 		JBrowse link
G GATA3 GATA binding protein 3 ISO HDR Syndrome/Barakat Syndrome, OMIM:146255 DNA:point_mutation, deletion, deletion:CDS:Arg277Ter, 49bpDELnt465-513, 12bpDELnt946-957 RGD PMID:10935639 RGD:1358706 NCBI chr 2:28,068,143...28,098,445
Ensembl chr 2:28,069,051...28,087,760 		JBrowse link
G GCC2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr10:35,379,055...35,431,500
Ensembl chr10:35,379,030...35,431,457 		JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:32403198 NCBI chr 4:4,590,302...4,602,307
Ensembl chr 4:4,592,262...4,602,077 		JBrowse link
G GIPC3 GIPC PDZ domain containing family member 3 ISO ClinVar Annotator: match by term: Sensorineural hearing loss | ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:23510777 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32747562 More... NCBI chr20:55,833,876...55,837,621 JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Progressive sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:3 PMID:2706105 PMID:8789457 PMID:9139825 PMID:9285800 More... NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289 		JBrowse link
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant, with peripheral neuropathy ClinVar PMID:11309368 PMID:12165562 PMID:15276679 PMID:19050930 PMID:19197336 More... NCBI chr15:7,175,010...7,177,145 JBrowse link
G GJC3 gap junction protein gamma 3 ISO RGD PMID:16481432 RGD:1578421 NCBI chr 6:9,648,769...9,656,507
Ensembl chr 6:9,648,608...9,656,181 		JBrowse link
G GPSM2 G protein signaling modulator 2 ISO DNA:nonsense mutation:cds:p.R127X(human)
DNA:nonsense mutation:exon:c.1684C>T(p.Q562X(human) 		RGD PMID:20602914 PMID:21348867 RGD:11552574 RGD:11552577 NCBI chr 6:42,828,611...42,878,334
Ensembl chr 6:42,824,455...42,868,690 		JBrowse link
G GRHL2 grainyhead like transcription factor 2 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr13:3,204,898...3,362,533
Ensembl chr13:3,204,925...3,362,096 		JBrowse link
G GSDME gasdermin E ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr14:38,210,975...38,286,729
Ensembl chr14:38,211,540...38,292,280 		JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss | ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 PMID:31827252 NCBI chr 2:35,843,611...35,851,257
Ensembl chr 2:35,843,706...35,850,760 		JBrowse link
G IFNG interferon gamma ISO associated with Hearing Loss, Sensorineural;protein:increased expression:serum: RGD PMID:15937357 PMID:19684145 RGD:7987908 RGD:8142347 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698 		JBrowse link
G IL2 interleukin 2 ISO RGD PMID:9693304 RGD:8662926 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:21255762 PMID:25741868 PMID:28492532 NCBI chr33:25,207,537...25,238,071
Ensembl chr33:25,207,572...25,237,949 		JBrowse link
G IRX5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr 2:60,957,353...60,978,782
Ensembl chr 2:60,968,193...61,041,385 		JBrowse link
G ITGA2 integrin subunit alpha 2 ISO DNA:snp:cds:c.807C>T (rs1126643) (human) RGD PMID:22948415 RGD:8686432 NCBI chr 4:62,170,137...62,268,962
Ensembl chr 4:62,170,452...62,268,983 		JBrowse link
G KARS1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 PMID:28496994 More... NCBI chr 5:75,172,976...75,188,197
Ensembl chr 5:75,173,032...75,188,197 		JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:10973849 PMID:16922724 PMID:17341399 PMID:19716085 PMID:21070882 More... NCBI chr31:29,858,428...29,868,315 JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813 		JBrowse link
G KCNQ4 potassium voltage-gated channel subfamily Q member 4 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:19461658 PMID:27081546 PMID:30311386 PMID:34652575 NCBI chr15:2,203,938...2,257,152
Ensembl chr15:2,205,276...2,242,093 		JBrowse link
G KL klotho ISO RGD PMID:21167925 RGD:10403058 NCBI chr25:7,154,359...7,201,744
Ensembl chr25:7,156,620...7,199,558 		JBrowse link
G LARS1 leucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:40,544,031...40,619,268
Ensembl chr 2:40,544,210...40,635,281 		JBrowse link
G LMX1A LIM homeobox transcription factor 1 alpha ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:29971487 NCBI chr38:17,958,366...18,111,155
Ensembl chr38:17,956,961...18,109,049 		JBrowse link
G LRP2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chr36:13,910,450...14,107,081
Ensembl chr36:13,911,865...14,107,546 		JBrowse link
G MBL1 mannose binding lectin 1 susceptibility ISO DNA:SNP:cds: RGD PMID:23246423 RGD:8693695 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G MITF melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:8659547 PMID:20127975 PMID:20478267 PMID:22320238 PMID:24194866 More... NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578 		JBrowse link
G MRPS7 mitochondrial ribosomal protein S7 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:5,231,612...5,235,383
Ensembl chr 9:5,231,920...5,235,383 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:28027978 NCBI chr MT:14,183...15,322
Ensembl chr MT:14,183...15,322 		JBrowse link
G MYH14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 1:106,371,952...106,460,388
Ensembl chr 1:106,371,939...106,458,901 		JBrowse link
G MYH9 myosin heavy chain 9 disease_progression ISO associated with MYH9-Related Disorders;DNA:mutations:cds: RGD PMID:26226608 RGD:11533922 NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953 		JBrowse link
G MYO15A myosin XVA ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:9536098 PMID:17546645 PMID:17576681 PMID:24033266 PMID:24875298 More... NCBI chr 5:41,369,484...41,421,303
Ensembl chr 5:41,370,509...41,392,881 		JBrowse link
G MYO1A myosin IA ISO DFNA48, OMIM:607841 RGD PMID:12736868 RGD:1600218 NCBI chr10:1,159,816...1,194,452
Ensembl chr10:1,159,812...1,193,153 		JBrowse link
G MYO1F myosin IF ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar NCBI chr20:53,054,583...53,088,593
Ensembl chr20:53,054,585...53,089,115 		JBrowse link
G MYO3A myosin IIIA ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:12032315 PMID:23990876 PMID:25741868 PMID:28492532 PMID:32006683 More... NCBI chr 2:7,455,125...7,695,483
Ensembl chr 2:7,455,625...7,696,043 		JBrowse link
G MYO6 myosin VI ISO DFNA22, OMIM:606346, DNA:point mutation:exon:C442Y RGD PMID:11468689 RGD:1600556 NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:16449806 PMID:19461658 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279 		JBrowse link
G NARS2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr21:20,277,707...20,413,624
Ensembl chr21:20,277,507...20,606,736 		JBrowse link
G NCOA3 nuclear receptor coactivator 3 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:19461658 PMID:30311386 PMID:33326993 PMID:34652575 Ensembl chr24:34,585,305...34,728,674
Ensembl chr24:34,585,305...34,728,674 		JBrowse link
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:12477167 PMID:12566280 PMID:19158810 PMID:20301384 PMID:21840889 More... NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224 		JBrowse link
G NGF nerve growth factor ISO protein:decreased expression:serum: RGD PMID:14587217 RGD:8655553 NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607 		JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:12525542 PMID:16199547 PMID:16371502 PMID:18381613 PMID:19250381 More... NCBI chr17:20,518,480...20,619,713
Ensembl chr17:20,518,813...20,614,750 		JBrowse link
G P2RX2 purinergic receptor P2X 2 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:19461658 PMID:28492532 PMID:30311386 PMID:34652575 NCBI chr26:480,370...485,527
Ensembl chr26:482,425...485,502 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:19877282 PMID:25079577 PMID:25741868 PMID:28492532 PMID:32399598 NCBI chr12:11,503,184...11,514,977
Ensembl chr12:11,503,240...11,514,929 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked ISO DNA:mutations:cds: RGD PMID:15029877 RGD:11556244 NCBI chr  X:17,830,714...18,038,755
Ensembl chr  X:17,829,158...18,035,775 		JBrowse link
G PHF7 PHD finger protein 7 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr20:37,343,167...37,355,166
Ensembl chr20:37,343,167...37,354,761 		JBrowse link
G PLS1 plastin 1 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:31397523 NCBI chr23:38,243,631...38,347,195
Ensembl chr23:38,243,024...38,347,202 		JBrowse link
G PLSCR4 phospholipid scramblase 4 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr23:41,415,151...41,453,727
Ensembl chr23:41,415,079...41,450,001 		JBrowse link
G POU4F3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:25741868 NCBI chr 2:40,762,499...40,764,131
Ensembl chr 2:40,762,477...40,765,161 		JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr  X:42,276,316...42,285,428
Ensembl chr  X:42,275,900...42,285,321 		JBrowse link
G PRKCB protein kinase C beta ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27329761 NCBI chr 6:21,742,970...22,064,360
Ensembl chr 6:21,742,973...22,065,185 		JBrowse link
G PTGDS prostaglandin D2 synthase ISO protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr 9:48,647,334...48,650,608
Ensembl chr 9:48,646,255...48,669,814 		JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr15:22,771,653...23,017,694
Ensembl chr15:22,825,348...23,013,762 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25590979 PMID:25741868 PMID:28492532 PMID:28967629 PMID:31523922 NCBI chr  X:101,311,752...101,322,825
Ensembl chr  X:101,312,611...101,322,689 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:8279480 PMID:25741868 PMID:28492532 PMID:32827185 NCBI chr13:3,774,725...3,838,576
Ensembl chr13:3,799,025...3,837,934 		JBrowse link
G SCP2 sterol carrier protein 2 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 PMID:33713422 NCBI chr 5:55,860,053...55,971,657
Ensembl chr 5:55,860,549...55,964,014 		JBrowse link
G SEMA3D semaphorin 3D ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr18:24,254,113...24,429,767
Ensembl chr18:24,262,125...24,394,155 		JBrowse link
G SLC12A2 solute carrier family 12 member 2 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 PMID:34374074 NCBI chr11:17,143,943...17,256,248
Ensembl chr11:17,143,943...17,253,695 		JBrowse link
G SLC19A2 solute carrier family 19 member 2 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:10391221 PMID:10391223 PMID:10874303 PMID:17659067 PMID:25741868 More... NCBI chr 7:29,094,341...29,114,319
Ensembl chr 7:29,094,101...29,113,249 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 More... NCBI chr16:45,454,660...45,458,606
Ensembl chr16:45,411,810...45,542,162 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:12676893 PMID:12974744 PMID:16460646 PMID:19287372 PMID:22116360 More... NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212 		JBrowse link
G SLC26A5 solute carrier family 26 member 5 ISO mRNA:decreased expression:organ of Corti (mouse) RGD PMID:19363478 RGD:9585667 NCBI chr18:16,783,795...16,841,946
Ensembl chr18:16,788,759...16,839,940 		JBrowse link
G SLC52A2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr13:37,779,896...37,786,653
Ensembl chr13:37,783,562...37,786,621 		JBrowse link
G SLC7A14 solute carrier family 7 member 14 ISO MouseDO NCBI chr34:34,953,442...35,065,447
Ensembl chr34:34,958,156...35,012,544 		JBrowse link
G SLC7A8 solute carrier family 7 member 8 ISO OMIM:304400 MouseDO NCBI chr 8:3,430,208...3,479,985
Ensembl chr 8:3,430,208...3,479,985 		JBrowse link
G SLITRK6 SLIT and NTRK like family member 6 ISO OMIM:304400 MouseDO NCBI chr22:37,911,533...37,918,273
Ensembl chr22:37,912,612...37,925,177 		JBrowse link
G SOD2 superoxide dismutase 2 ISO protein:increased activity:cochlea: RGD PMID:15109710 RGD:8547516 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		JBrowse link
G SPNS2 SPNS lysolipid transporter 2, sphingosine-1-phosphate ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 5:30,494,355...30,527,669 JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase treatment ISO RGD PMID:24472721 RGD:11554193 NCBI chr24:25,982,499...26,019,748
Ensembl chr24:25,999,048...26,018,077 		JBrowse link
G STRC stereocilin ISO RGD PMID:11687802 RGD:1599186 NCBI chr30:10,444,726...10,459,058
Ensembl chr30:10,444,793...10,460,785 		JBrowse link
G STX4 syntaxin 4 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:30311386 PMID:36355422 NCBI chr 6:17,184,044...17,189,481
Ensembl chr 6:17,184,399...17,189,370 		JBrowse link
G TBX1 T-box transcription factor 1 ISO DNA:frameshift mutation:CDS:p.G387AfsX73 (human) RGD PMID:32110744 RGD:155641234 NCBI chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784 		JBrowse link
G TCF19 transcription factor 19 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr12:855,321...859,109
Ensembl chr12:854,611...858,582 		JBrowse link
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss | ClinVar Annotator: match by term: Sensorineural hearing loss disorder
ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder 		ClinVar PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 More... NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147 		JBrowse link
G TENM1 teneurin transmembrane protein 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr  X:95,766,173...96,565,995
Ensembl chr  X:95,769,881...96,550,190 		JBrowse link
G TFAM transcription factor A, mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 4:10,585,320...10,600,664
Ensembl chr 4:10,585,480...10,598,058 		JBrowse link
G TMC1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:30311386 PMID:40377830 NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369 		JBrowse link
G TMIE transmembrane inner ear ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:30303587 More... NCBI chr20:42,052,607...42,061,424
Ensembl chr20:42,053,817...42,061,262 		JBrowse link
G TMPRSS3 transmembrane serine protease 3 ISO DFNB10, OMIM:605316, DFNB8 OMIM:601072 RGD PMID:11137999 RGD:1599443 NCBI chr31:36,706,229...36,730,444
Ensembl chr31:36,707,723...36,730,520 		JBrowse link
G TNC tenascin C ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:25741868 NCBI chr11:69,077,532...69,169,673
Ensembl chr11:69,077,535...69,170,281 		JBrowse link
G TNF tumor necrosis factor ISO associated with Hearing Loss, Sensorineural;protein:increased expression:serum: RGD PMID:16988499 PMID:19684145 PMID:23165380 RGD:7387303 RGD:7394704 RGD:8142347 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G TOP3A DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 5:41,262,820...41,290,101
Ensembl chr 5:41,263,017...41,290,100 		JBrowse link
G USH1C USH1 protein network component harmonin ISO RGD PMID:20211154 RGD:8695932 NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430 		JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:2564938 PMID:10729113 PMID:10909849 PMID:15015129 PMID:16963483 More... NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444 		JBrowse link
G USP31 ubiquitin specific peptidase 31 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 6:22,622,099...22,688,398
Ensembl chr 6:22,622,099...22,690,121 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:12107816 PMID:22238590 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827 		JBrowse link
G WHRN whirlin ISO RGD PMID:12833159 RGD:1580603 NCBI chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977 		JBrowse link
G ZSCAN10 zinc finger and SCAN domain containing 10 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:38386308 NCBI chr 6:38,111,436...38,115,722
Ensembl chr 6:38,111,507...38,115,367 		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 ISO 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 OMIM
ClinVar		 PMID:14647208 PMID:15060126 PMID:16199547 PMID:24447024 PMID:25741868 More... NCBI chr 9:53,266,396...53,276,236
Ensembl chr 9:53,266,401...53,276,677 		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 ISO 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 chr24:31,810,511...31,814,547
Ensembl chr24:31,810,263...31,814,870 		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 ISO ClinVar Annotator: match by term: Sinoatrial node dysfunction and deafness OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21131953 PMID:24033266 PMID:25741868 More... NCBI chr20:36,189,986...36,488,460
Ensembl chr20:36,191,810...36,613,686 		JBrowse link
G DNAH9 dynein axonemal heavy chain 9 ISO ClinVar Annotator: match by term: Sinoatrial node dysfunction and deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:35,730,394...36,060,154
Ensembl chr 5:35,730,394...36,058,945 		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 ISO ClinVar Annotator: match by term: DLX5-related condition | ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss OMIM
ClinVar		 PMID:22121204 PMID:25741868 PMID:28492532 NCBI chr14:22,080,351...22,085,188
Ensembl chr14:22,080,699...22,084,867 		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 ISO ClinVar Annotator: match by term: SHILCA SYNDROME OMIM
ClinVar		 PMID:20301475 PMID:22842227 PMID:22842229 PMID:22842230 PMID:22842231 More... NCBI chr 5:63,122,379...63,152,078
Ensembl chr 5:63,122,498...63,151,661 		JBrowse link
Sudden Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO DNA:polymorphism: :HLA-DRB1*0403(human)
DNA:polymorphism: :HLA-DRB1*14,HLA-DRB1*04(human) 		RGD PMID:11099146 PMID:16303674 RGD:7365092 RGD:7365115 NCBI chr12:2,151,409...2,164,564 JBrowse link
G GPX3 glutathione peroxidase 3 ISO DNA:SNP: :rs3805435 (human) RGD PMID:28738977 RGD:401827121 NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010 		JBrowse link
G HSP70 heat shock protein 70 ISO DNA:SNP, haplotype: :rs2763979 (human) RGD PMID:22922572 RGD:8662465 NCBI chr12:1,285,282...1,287,670 JBrowse link
G IGF1 insulin like growth factor 1 treatment ISO RGD PMID:21108784 RGD:8548824 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794 		JBrowse link
G IL4R interleukin 4 receptor ISO DNA:SNP: :p.Q576R (rs 180275) (human) RGD PMID:16280132 RGD:7829784 NCBI chr 6:19,254,183...19,280,973
Ensembl chr 6:19,254,487...19,389,291 		JBrowse link
G IL6 interleukin 6 susceptibility ISO DNA:polymorphism:cds:p.C572G(human)
protein:increased expression:serum: 		RGD PMID:11189185 PMID:22385075 RGD:7394753 RGD:8547982 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519 		JBrowse link
G ITGA2 integrin subunit alpha 2 susceptibility ISO DNA:SNP: :807C>T (human) RGD PMID:16525573 RGD:1582302 NCBI chr 4:62,170,137...62,268,962
Ensembl chr 4:62,170,452...62,268,983 		JBrowse link
G LOC474850 heat shock 70 kDa protein 1-like ISO DNA:SNP, haplotype: :rs2075800 (human) RGD PMID:22922572 RGD:8662465 NCBI chr12:1,281,164...1,285,010
Ensembl chr12:1,281,472...1,285,440 		JBrowse link
G LTA lymphotoxin alpha ISO DNA:polymorphism:intron:252A>G (human) RGD PMID:19833626 RGD:8548795 NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO DNA:insertion, SNP, haplotypes:promoter:-1607_-1606insG (rs1799750), -519A>G (human) RGD PMID:21154774 RGD:8549733 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association
susceptibility 		ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :677C>T(human)
DNA:SNP:cds:677C>T(human)
DNA:SNPs:cds:677C>T,1298A>C(human) 		CTD
RGD		 PMID:15775757 PMID:16275406 PMID:16572609 PMID:20798492 RGD:7387236 RGD:7387240 RGD:7387243 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:SNP::2756A>G(human) RGD PMID:16778415 RGD:8694081 NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO DNA:snp:cds:p.E298D (rs1799983) (human) RGD PMID:23560644 RGD:7771541 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		JBrowse link
G SERPINE1 serpin family E member 1 susceptibility ISO DNA:deletion, haplotype:promoter:g.-676_-674delG (human) RGD PMID:22672326 RGD:8547731 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:serum: RGD PMID:11189185 RGD:7394753 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		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 ISO ClinVar Annotator: match by term: CHSY1-related condition | ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome OMIM
ClinVar		 PMID:9823490 PMID:19952732 PMID:21129727 PMID:21129728 PMID:25741868 More... NCBI chr 3:39,844,227...39,916,484
Ensembl chr 3:39,844,195...40,021,573 		JBrowse link
thiamine-responsive megaloblastic anemia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC19A2 solute carrier family 19 member 2 ISO ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ClinVar Annotator: match by term: SLC19A2-related condition | ClinVar Annotator: match by term: Thiamine-responsive megaloblastic anemia OMIM
ClinVar		 PMID:9399900 PMID:9856490 PMID:10391221 PMID:10391222 PMID:10391223 More... NCBI chr 7:29,094,341...29,114,319
Ensembl chr 7:29,094,101...29,113,249 		JBrowse link
Tietz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MITF melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Tietz syndrome ClinVar
OMIM		 PMID:2440678 PMID:7874167 PMID:7874168 PMID:8589691 PMID:8659547 More... NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578 		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 ISO ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr 2:65,003,891...65,034,812
Ensembl chr 2:65,006,038...65,034,777 		JBrowse link
G BRD7 bromodomain containing 7 ISO ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr 2:64,966,636...65,002,800
Ensembl chr 2:64,966,392...65,002,799 		JBrowse link
G CNEP1R1 CTD nuclear envelope phosphatase 1 regulatory subunit 1 ISO ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr 2:65,236,030...65,252,169
Ensembl chr 2:65,237,353...65,252,043 		JBrowse link
G CYLD CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr 2:64,561,684...64,628,829
Ensembl chr 2:64,562,503...64,628,175 		JBrowse link
G DACT1 dishevelled binding antagonist of beta catenin 1 ISO ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:25741868 NCBI chr 8:33,950,016...33,959,671
Ensembl chr 8:33,949,926...33,958,449 		JBrowse link
G HEATR3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr 2:65,178,268...65,218,129
Ensembl chr 2:65,151,717...65,218,109 		JBrowse link
G NKD1 NKD inhibitor of WNT signaling pathway 1 ISO ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr 2:64,720,059...64,806,868
Ensembl chr 2:64,722,243...64,807,875 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232 		JBrowse link
G SALL1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome OMIM
ClinVar		 PMID:8133838 PMID:9425907 PMID:9536098 PMID:9973281 PMID:10533063 More... NCBI chr 2:64,242,742...64,260,021
Ensembl chr 2:64,243,987...64,259,521 		JBrowse link
G SNX20 sorting nexin 20 ISO ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr 2:64,681,329...64,689,825
Ensembl chr 2:64,681,303...64,692,486 		JBrowse link
G TENT4B terminal nucleotidyltransferase 4B ISO ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr 2:65,068,088...65,147,853
Ensembl chr 2:65,071,111...65,147,896 		JBrowse link
G ZNF423 zinc finger protein 423 ISO ClinVar Annotator: match by term: Townes syndrome ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr 2:65,512,342...65,778,410
Ensembl chr 2:65,438,842...65,778,407 		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 ISO ClinVar Annotator: match by term: DACT1-related condition | ClinVar Annotator: match by term: Townes-Brocks syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28054444 PMID:28492532 PMID:36066768 NCBI chr 8:33,950,016...33,959,671
Ensembl chr 8:33,949,926...33,958,449 		JBrowse link
Townes-Brocks-Branchiootorenal-Like Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SALL1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome ClinVar PMID:9973281 PMID:10928856 PMID:14755477 PMID:16088922 PMID:23069192 More... NCBI chr 2:64,242,742...64,260,021
Ensembl chr 2:64,243,987...64,259,521 		JBrowse link
Unilateral Deafness with Delayed Endolymphatic Hydrops term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHEX phosphate regulating endopeptidase X-linked ISO DNA:mutation:cds: RGD PMID:18289812 RGD:11556245 NCBI chr  X:17,830,714...18,038,755
Ensembl chr  X:17,829,158...18,035,775 		JBrowse link
Unilateral Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Unilateral deafness ClinVar PMID:25741868 NCBI chr  X:81,982,119...82,248,428
Ensembl chr  X:81,982,275...82,247,679 		JBrowse link
G NEFH neurofilament heavy chain disease_progression ISO RGD PMID:27457532 RGD:27372873 NCBI chr26:22,726,523...22,735,129
Ensembl chr26:22,726,526...22,735,125 		JBrowse link
G SIX1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Unilateral deafness ClinVar NCBI chr 8:35,676,705...35,679,534
Ensembl chr 8:35,676,479...35,679,534 		JBrowse link
Usher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:3258136 PMID:9536098 PMID:14740321 PMID:15671307 PMID:16199547 More... NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532 		JBrowse link
G ARSG arylsulfatase G ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:29300381 NCBI chr 9:15,048,563...15,115,095
Ensembl chr 9:15,048,588...15,115,101 		JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chr10:69,261,311...69,287,540
Ensembl chr10:69,252,926...69,287,542 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 More... NCBI chr18:50,816,126...50,835,354 JBrowse link
G BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,834,642...14,857,242
Ensembl chr38:14,834,643...14,857,227 		JBrowse link
G C4H10orf105 chromosome 4 C10orf105 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Dystrophia retinae pigmentosa-dysostosis syndrome | ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome 		ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr 4:22,472,365...22,478,931 JBrowse link
G CABP4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:50,014,698...50,017,854
Ensembl chr18:50,014,698...50,017,854 		JBrowse link
G CCDC40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:1,616,029...1,656,043
Ensembl chr 9:1,601,121...1,656,597 		JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome 		ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131 		JBrowse link
G CEP250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24780881 PMID:25741868 PMID:28492532 PMID:29718797 PMID:31456290 NCBI chr24:24,411,882...24,461,916
Ensembl chr24:24,418,859...24,461,640 		JBrowse link
G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26173970 PMID:26214305 PMID:26226137 More...
G CLRN1 clarin 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:7407589 PMID:11524702 PMID:15521980 PMID:17407589 PMID:17893653 More... NCBI chr23:45,512,639...45,551,010
Ensembl chr23:45,513,416...45,551,178 		JBrowse link
G COCH cochlin ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chr 8:10,215,101...10,230,017
Ensembl chr 8:10,214,536...10,233,550 		JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189 		JBrowse link
G CRB1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Hallgren syndrome ClinVar PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 More... NCBI chr 7:5,277,394...5,490,542
Ensembl chr 7:5,277,394...5,490,470 		JBrowse link
G CRX cone-rod homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 1:108,249,911...108,261,015
Ensembl chr 1:108,249,911...108,261,010 		JBrowse link
G DGKQ diacylglycerol kinase theta ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 3:91,544,350...91,554,494
Ensembl chr 3:91,544,219...91,554,565 		JBrowse link
G DUSP10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:16,196,354...16,233,640
Ensembl chr38:16,196,635...16,231,315 		JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,754,628...14,823,626
Ensembl chr38:14,754,632...14,823,621 		JBrowse link
G ESRRG estrogen related receptor gamma ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:11,825,055...12,439,143
Ensembl chr38:11,823,520...12,256,028 		JBrowse link
G FMC1 formation of mitochondrial complex V assembly factor 1 homolog ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr16:9,413,358...9,418,791
Ensembl chr16:9,413,359...9,418,791 		JBrowse link
G GPATCH2 G-patch domain containing 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:12,682,263...12,850,587
Ensembl chr38:12,685,619...12,850,529 		JBrowse link
G HDAC6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr  X:42,004,268...42,024,726
Ensembl chr  X:42,004,591...42,024,427 		JBrowse link
G HHIPL2 HHIP like 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:16,791,695...16,818,482
Ensembl chr38:16,791,695...16,818,411 		JBrowse link
G HLX H2.0 like homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:15,538,744...15,543,686
Ensembl chr38:15,539,029...15,542,152 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,864,004...14,925,684
Ensembl chr38:14,863,998...14,925,635 		JBrowse link
G KIF11 kinesin family member 11 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr28:6,982,296...7,034,380
Ensembl chr28:6,982,146...7,033,104 		JBrowse link
G LUC7L2 LUC7-like 2 (S. cerevisiae) ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr16:9,342,792...9,404,797
Ensembl chr16:9,342,894...9,404,797 		JBrowse link
G LYPLAL1 lysophospholipase like 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,100,818...14,137,292
Ensembl chr38:14,100,698...14,268,481 		JBrowse link
G MARK1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:15,270,523...15,341,934
Ensembl chr38:15,273,004...15,340,448 		JBrowse link
G MIR194 microRNA mir-194 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,895,401...14,895,458
Ensembl chr38:14,895,401...14,895,458 		JBrowse link
G MTARC1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:15,460,548...15,490,941
Ensembl chr38:15,463,548...15,532,241 		JBrowse link
G MTARC2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:15,426,884...15,451,701
Ensembl chr38:15,426,666...15,451,136 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome | ClinVar Annotator: match by term: Usher's syndrome 		ClinVar PMID:2696932 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 More... NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279 		JBrowse link
G OTOA otoancorin ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:23173898 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:23,106,650...23,175,159
Ensembl chr 6:23,106,804...23,168,380 		JBrowse link
G PAX3 paired box 3 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr37:28,346,476...28,443,648
Ensembl chr37:28,346,563...28,444,561 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome 		ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017 		JBrowse link
G PDE6A phosphodiesterase 6A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24265693 PMID:25182519 PMID:25741868 PMID:28492532 NCBI chr 4:59,103,965...59,163,857
Ensembl chr 4:59,103,945...59,163,857 		JBrowse link
G PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr28:13,693,032...13,711,654
Ensembl chr28:13,693,023...13,711,784 		JBrowse link
G PROM1 prominin 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr 3:64,229,487...64,362,346
Ensembl chr 3:64,260,685...64,382,009 		JBrowse link
G PRPH2 peripherin 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32531846 NCBI chr12:11,299,236...11,316,175
Ensembl chr12:11,299,236...11,316,175 		JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,927,670...15,025,554
Ensembl chr38:14,928,628...15,025,865 		JBrowse link
G RRP15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:13,377,518...13,416,809
Ensembl chr38:13,377,571...13,421,810 		JBrowse link
G SERPINB6 serpin family B member 6 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr35:3,234,694...3,245,726
Ensembl chr35:3,234,697...3,262,829 		JBrowse link
G SLC30A10 solute carrier family 30 member 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,705,517...14,746,835
Ensembl chr38:14,709,866...14,747,540 		JBrowse link
G SPATA17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:12,850,773...13,058,137
Ensembl chr38:12,850,469...13,146,096 		JBrowse link
G TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:16,827,853...16,858,506
Ensembl chr38:16,828,205...16,858,432 		JBrowse link
G TGFB2 transforming growth factor beta 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:13,430,832...13,511,655
Ensembl chr38:13,429,148...13,510,242 		JBrowse link
G USH1C USH1 protein network component harmonin treatment ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome 		RGD
ClinVar		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695937 NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430 		JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12588794 PMID:22219650 PMID:24033266 PMID:25741868 PMID:27460420 More... NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900 		JBrowse link
G USH2A usherin susceptibility ISO DNA:snps, insertion:exon, intron:multiple (human)
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome 		RGD
ClinVar		 PMID:1968399 PMID:2525289 PMID:2564938 PMID:3258136 PMID:3526624 More... RGD:8547956 NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444 		JBrowse link
G WHRN whirlin ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:11973626 PMID:12833159 PMID:15841483 PMID:21569298 PMID:22147658 More... NCBI chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977 		JBrowse link
G ZDHHC24 zinc finger DHHC-type containing 24 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 More... NCBI chr18:50,801,179...50,808,480
Ensembl chr18:50,801,303...50,806,877 		JBrowse link
Usher syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:21569298 PMID:24033266 PMID:28492532 NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532 		JBrowse link
G C4H10orf105 chromosome 4 C10orf105 homolog ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 More... NCBI chr 4:22,472,365...22,478,931 JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131 		JBrowse link
G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18505454 PMID:20301442 PMID:23023331
G ESPN espin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:29572253 NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017 		JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848 		JBrowse link
G USH1C USH1 protein network component harmonin onset ISO DNA:deletion:exon:c.1220delG(human)
ClinVar Annotator: match by term: Usher syndrome type 1 		RGD
ClinVar		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695919 NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430 		JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:11941484 PMID:12588794 PMID:21569298 PMID:25741868 PMID:28492532 NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900 		JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:20301442 PMID:21569298 PMID:24033266 PMID:25741868 PMID:26667666 More... NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444 		JBrowse link
Usher Syndrome Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C4H10orf105 chromosome 4 C10orf105 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr 4:22,472,365...22,478,931 JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131 		JBrowse link
G MYO7A myosin VIIA treatment ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety 		OMIM
ClinVar
RGD		 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... RGD:8694151 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety 		ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017 		JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848 		JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B 		ClinVar PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430 		JBrowse link
Usher syndrome type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Usher syndrome type 1C OMIM
ClinVar		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430 		JBrowse link
Usher syndrome type 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C4H10orf105 chromosome 4 C10orf105 homolog ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 More... NCBI chr 4:22,472,365...22,478,931 JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar		 PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017 		JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D 		ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848 		JBrowse link
G VSIR V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID ClinVar PMID:25741868 NCBI chr 4:22,504,888...22,530,702
Ensembl chr 4:22,459,363...22,530,687 		JBrowse link
Usher syndrome type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017 		JBrowse link
Usher syndrome type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 More... NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017 		JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: USH1G-related disorder | ClinVar Annotator: match by term: Usher syndrome type 1G OMIM
ClinVar		 PMID:3442652 PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 More... NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900 		JBrowse link
Usher syndrome type 1J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1J OMIM
ClinVar		 PMID:2911222 PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 More...
Usher Syndrome Type 1M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESPN espin ISO ClinVar Annotator: match by term: ESPN-related condition | ClinVar Annotator: match by term: Usher syndrome, type 1M OMIM
ClinVar		 PMID:15930085 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676 		JBrowse link
Usher syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:16199547 PMID:19357117 PMID:22135276 PMID:22147658 PMID:24033266 More... NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532 		JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 PMID:32531858 NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279 		JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:10973247 PMID:16199547 PMID:17407589 PMID:20301442 PMID:21203349 More... NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430 		JBrowse link
G USH2A usherin susceptibility ISO DNA:frameshift mutations, missense mutations, nonsense mutation:exon:multiple (human)
ClinVar Annotator: match by term: Usher syndrome type 2
DNA:insertion, deletions, snps:multiple (human)
DNA:mutations:multiple (human)
DNA:snp:intron:c.7595-2144A>G (human) 		RGD
ClinVar		 PMID:2564938 PMID:9624053 PMID:10090909 PMID:10729113 PMID:10738000 More... RGD:8547952 RGD:8547962 RGD:8547965 RGD:8547985 NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444 		JBrowse link
Usher syndrome type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532 		JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 PMID:21940737 More... NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131 		JBrowse link
G KCTD3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:21681106 NCBI chr38:11,016,344...11,059,843
Ensembl chr38:11,008,857...11,084,871 		JBrowse link
G PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A OMIM
ClinVar		 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More... NCBI chr28:13,693,032...13,711,654
Ensembl chr28:13,693,023...13,711,784 		JBrowse link
G USH2A usherin susceptibility ISO ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human)
DNA:mutations:multiple (human) 		OMIM
ClinVar
RGD		 PMID:327072 PMID:1968399 PMID:2525289 PMID:2564938 PMID:2746042 More... RGD:8547961 RGD:8547987 NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444 		JBrowse link
Usher Syndrome Type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:14740321 PMID:15671307 PMID:16199547 PMID:19357117 PMID:22135276 More... NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532 		JBrowse link
G PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:20440071 PMID:24033266 PMID:25741868 PMID:26416264 PMID:26849169 More... NCBI chr28:13,693,032...13,711,654
Ensembl chr28:13,693,023...13,711,784 		JBrowse link
G WDR36 WD repeat domain 36 ISO ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:15677485 PMID:18172102 PMID:19150991 PMID:22995991 PMID:25333069 More... NCBI chr 3:1,451,543...1,494,474
Ensembl chr 3:1,451,555...1,494,438 		JBrowse link
Usher syndrome type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic OMIM
ClinVar		 PMID:3258136 PMID:3442652 PMID:9536098 PMID:10234513 PMID:14740321 More... NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532 		JBrowse link
G CNKSR1 connector enhancer of kinase suppressor of Ras 1 ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:25741868 NCBI chr 2:73,805,333...73,814,711
Ensembl chr 2:73,805,710...73,814,725 		JBrowse link
G CRYGC crystallin gamma C ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:24033266 PMID:25741868 PMID:28492532 Ensembl chr37:16,424,884...16,482,227 JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:21900877 PMID:25741868 PMID:28492532 NCBI chr32:2,558,442...2,993,199
Ensembl chr32:2,558,354...2,991,063 		JBrowse link
G PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic OMIM
ClinVar		 PMID:20440071 PMID:24033266 PMID:24498627 PMID:25741868 PMID:26416264 More... NCBI chr28:13,693,032...13,711,654
Ensembl chr28:13,693,023...13,711,784 		JBrowse link
G SLC4A7 solute carrier family 4 member 7 ISO OMIM:605472 MouseDO NCBI chr23:16,710,649...16,788,277
Ensembl chr23:16,710,701...16,785,541 		JBrowse link
G WDR36 WD repeat domain 36 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIC ClinVar PMID:15677485 PMID:18172102 PMID:19150991 PMID:22995991 PMID:25333069 More... NCBI chr 3:1,451,543...1,494,474
Ensembl chr 3:1,451,555...1,494,438 		JBrowse link
Usher syndrome type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WHRN whirlin ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID | ClinVar Annotator: match by term: Usher syndrome type 2D OMIM
ClinVar		 PMID:9536098 PMID:11973626 PMID:12833159 PMID:15841483 PMID:16199547 More... NCBI chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977 		JBrowse link
Usher syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLRN1 clarin 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3 ClinVar PMID:7407589 PMID:9536098 PMID:11524702 PMID:12080385 PMID:12145752 More... NCBI chr23:45,512,639...45,551,010
Ensembl chr23:45,513,416...45,551,178 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3 ClinVar PMID:28492532 NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583 		JBrowse link
Usher syndrome type 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLRN1 clarin 1 ISO ClinVar Annotator: match by term: CLRN1-related condition | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA | ClinVar Annotator: match by term: Usher syndrome type 3A OMIM
ClinVar		 PMID:7407589 PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 More... NCBI chr23:45,512,639...45,551,010
Ensembl chr23:45,513,416...45,551,178 		JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Usher syndrome type 3A ClinVar PMID:2564938 PMID:10729113 PMID:10909849 PMID:15015129 PMID:16963483 More... NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444 		JBrowse link
Usher syndrome type 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DND1 DND microRNA-mediated repression inhibitor 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3B ClinVar PMID:28492532 NCBI chr 2:35,825,154...35,827,913
Ensembl chr 2:35,825,636...35,827,840 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3B OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22279524 PMID:22279824 More... NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583 		JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Usher syndrome type 3B ClinVar PMID:28492532 NCBI chr 2:35,843,611...35,851,257
Ensembl chr 2:35,843,706...35,850,760 		JBrowse link
Usher Syndrome Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSG arylsulfatase G ISO ClinVar Annotator: match by term: ARSG-related condition | ClinVar Annotator: match by term: Usher syndrome, type 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29300381 PMID:32455177 PMID:33300174 More... NCBI chr 9:15,048,563...15,115,095
Ensembl chr 9:15,048,588...15,115,101 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: ARSG-related condition | ClinVar Annotator: match by term: Usher syndrome, type 4 ClinVar PMID:25741868 PMID:28492532 PMID:33300174 PMID:35226187 PMID:36317447 NCBI chr 9:15,180,940...15,203,035
Ensembl chr 9:15,181,393...15,200,683 		JBrowse link
Usher Syndrome, Type ID/F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:21940737 More... NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665 PMID:15660226 PMID:24033266 NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017 		JBrowse link
uveal coloboma-cleft lip and palate-intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G YAP1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Uveal coloboma-cleft lip and palate-intellectual disability | ClinVar Annotator: match by term: YAP1-related condition OMIM
ClinVar		 PMID:4997531 PMID:24462371 PMID:25741868 PMID:28492532 NCBI chr 5:29,394,760...29,495,977
Ensembl chr 5:29,394,541...29,496,251 		JBrowse link
Vohwinkel 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 ClinVar Annotator: match by term: Keratoderma hereditarium mutilans | ClinVar Annotator: match by term: Mutilating keratoderma OMIM
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289 		JBrowse link
Wittwer Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPLX1 complexin 1 ISO ClinVar Annotator: match by term: WITTWER SYNDROME ClinVar PMID:25741868 PMID:28422131 PMID:28492532 NCBI chr 3:91,635,953...91,658,084
Ensembl chr 3:91,638,515...91,656,737 		JBrowse link
G CTBP1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:91,385,733...91,400,252
Ensembl chr 3:91,379,049...91,400,656 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:91,499,088...91,508,982 JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:62,268,027...62,304,767
Ensembl chr 3:62,267,708...62,302,136 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: WITTWER SYNDROME | ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:11252005 PMID:25741868 PMID:28492532 PMID:29760529 PMID:29892088 More... NCBI chr 3:62,164,888...62,228,006
Ensembl chr 3:62,167,939...62,228,035 		JBrowse link
G NUF2 NUF2 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar NCBI chr38:19,574,122...19,599,821
Ensembl chr38:19,574,125...19,599,064 		JBrowse link
Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snp:cds:m.4216T>C (human) RGD PMID:9309689 RGD:5490247 NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness | ClinVar Annotator: match by term: Wolfram syndrome ClinVar PMID:1161832 PMID:10521293 PMID:11161832 PMID:11244483 PMID:12754709 More... NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827 		JBrowse link
Wolfram syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1 OMIM
ClinVar		 PMID:1161832 PMID:1615141 PMID:3095763 PMID:3126496 PMID:3387915 More... NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827 		JBrowse link
Wolfram syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CISD2 CDGSH iron sulfur domain 2 ISO ClinVar Annotator: match by term: CISD2-related condition | ClinVar Annotator: match by term: Wolfram syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:25056293 More... NCBI chr32:24,257,909...24,274,732
Ensembl chr32:24,257,994...24,274,064 		JBrowse link
G CISD3 CDGSH iron sulfur domain 3 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741868 NCBI chr 9:23,501,167...23,504,302
Ensembl chr 9:23,501,168...23,504,308 		JBrowse link
G PCGF2 polycomb group ring finger 2 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741868 NCBI chr 9:23,488,862...23,499,769
Ensembl chr 9:23,488,857...23,499,549 		JBrowse link
G SLC9B1 solute carrier family 9 member B1 ISO ClinVar Annotator: match by term: CISD2-related condition | ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532 NCBI chr32:24,292,961...24,352,795
Ensembl chr32:24,272,035...24,352,715 		JBrowse link
X-linked Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATG4A autophagy related 4A cysteine peptidase ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar NCBI chr  X:81,629,346...81,688,086
Ensembl chr  X:81,629,465...81,688,099 		JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:12028435 PMID:17216251 PMID:17396119 PMID:19129241 PMID:19675380 More... NCBI chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO
IAGP 		ClinVar Annotator: match by term: COL4A5-related condition | ClinVar Annotator: match by term: X-linked Alport syndrome
Nephritis, X-linked 		OMIM
ClinVar
OMIA		 PMID:94548 PMID:884645 PMID:1330889 PMID:1352287 PMID:1363780 More... NCBI chr  X:81,982,119...82,248,428
Ensembl chr  X:81,982,275...82,247,679 		JBrowse link
G COL4A6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar NCBI chr  X:81,690,047...81,981,005
Ensembl chr  X:81,691,417...81,980,703 		JBrowse link
G FN1 fibronectin 1 ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr37:22,456,854...22,522,410
Ensembl chr37:22,420,428...22,523,123 		JBrowse link
G MSR1 macrophage scavenger receptor 1 ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:12244320 PMID:12958598 PMID:21791690 PMID:24082139 PMID:25333069 More... NCBI chr16:39,434,948...39,513,727
Ensembl chr16:39,436,753...39,527,438 		JBrowse link
G ZC3H12C zinc finger CCCH-type containing 12C ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:25741868 NCBI chr 5:22,666,321...22,756,089
Ensembl chr 5:22,669,947...22,747,506 		JBrowse link
X-linked deafness 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL | ClinVar Annotator: match by term: Deafness, X-linked 1 OMIM
ClinVar		 PMID:8968763 PMID:10503584 PMID:15240907 PMID:17701900 PMID:20021999 More... NCBI chr  X:81,150,537...81,171,521
Ensembl chr  X:81,150,536...81,212,689 		JBrowse link
X-linked deafness 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear
ClinVar Annotator: match by term: Deafness, X-linked 2 | ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear 		ClinVar PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289 		JBrowse link
G GJB6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear ClinVar PMID:10730756 PMID:11017065 PMID:12419304 PMID:14708603 PMID:15213106 More... NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605 		JBrowse link
G POU3F4 POU class 3 homeobox 4 ISO ClinVar Annotator: match by term: Deafness, X-linked 2 | ClinVar Annotator: match by term: POU3F4-related condition | ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear OMIM
ClinVar		 PMID:1783396 PMID:6662621 PMID:7581392 PMID:7839145 PMID:9298820 More... NCBI chr  X:64,427,161...64,428,825
Ensembl chr  X:64,427,325...64,428,410 		JBrowse link
X-linked deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMPX small muscle protein X-linked ISO ClinVar Annotator: match by term: DEAFNESS, X-LINKED 6, PROGRESSIVE OMIM
ClinVar		 PMID:8872482 PMID:21549336 PMID:21549342 PMID:22911656 PMID:25741868 More... NCBI chr  X:17,520,564...17,578,453
Ensembl chr  X:17,520,644...17,573,614 		JBrowse link
X-linked deafness 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5 OMIM
ClinVar		 PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:29625556 More... NCBI chr  X:101,275,027...101,307,551
Ensembl chr  X:101,275,017...101,307,367 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5 ClinVar PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:29625556 More... NCBI chr  X:101,311,752...101,322,825
Ensembl chr  X:101,312,611...101,322,689 		JBrowse link
X-linked deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: COL4A6-related condition | ClinVar Annotator: match by term: Deafness, X-linked 6 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23714752 PMID:25741868 PMID:26467025 More... NCBI chr  X:81,690,047...81,981,005
Ensembl chr  X:81,691,417...81,980,703 		JBrowse link
X-linked deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPRASP2 G protein-coupled receptor associated sorting protein 2 ISO ClinVar Annotator: match by term: GPRASP2-related condition | ClinVar Annotator: match by term: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr  X:76,653,500...76,658,182
Ensembl chr  X:76,653,842...76,656,418 		JBrowse link
X-linked mental retardation Gustavson type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RBMX RNA binding motif protein X-linked ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES OMIM
ClinVar		 PMID:25741868 NCBI chr  X:107,173,599...107,182,404
Ensembl chr  X:107,175,634...107,182,347 		JBrowse link
X-linked mental retardation-hypotonic facies syndrome-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler ISO ClinVar Annotator: match by term: CHUDLEY-LOWRY SYNDROME | ClinVar Annotator: match by term: Carpenter-Waziri syndrome | ClinVar Annotator: match by term: HOLMES-GANG SYNDROME | ClinVar Annotator: match by term: Intellectual disability-hypotonic facies syndrome, X-linked | ClinVar Annotator: match by term: XLMR-HYPOTONIC FACIES SYNDROME OMIM
ClinVar		 PMID:3239563 PMID:6682021 PMID:6711605 PMID:7697714 PMID:8630485 More... NCBI chr  X:59,772,067...60,107,016
Ensembl chr  X:59,774,585...60,106,980 		JBrowse link
G EPOR erythropoietin receptor ISO ClinVar Annotator: match by term: Carpenter-Waziri syndrome ClinVar PMID:8174675 PMID:9394420 PMID:25741868 PMID:28492532 NCBI chr20:49,945,777...49,950,856
Ensembl chr20:49,945,777...49,950,856 		JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: HOLMES-GANG SYNDROME ClinVar PMID:25741868 NCBI chr  X:45,234,666...45,409,641
Ensembl chr  X:45,234,322...45,410,043 		JBrowse link
X-linked nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMPX small muscle protein X-linked ISO ClinVar Annotator: match by term: X-linked deafness ClinVar NCBI chr  X:17,520,564...17,578,453
Ensembl chr  X:17,520,644...17,573,614 		JBrowse link
X-linked retinitis pigmentosa and sinorespiratory infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness OMIM
ClinVar		 PMID:1733835 PMID:8673101 PMID:10094550 PMID:14627685 PMID:16055928 More... NCBI chr  X:33,056,371...33,105,036
Ensembl chr  X:32,745,020...33,330,841 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15778
    sensory system disease 7003
      Hearing Disorders 811
        Hearing Loss 806
          ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS 0
          BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME 1
          Behr syndrome 1
          Bilateral Hearing Loss + 5
          Branchial Arch Syndrome X-Linked 0
          CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME 1
          Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis + 2
          Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus 3
          Conductive Hearing Loss + 9
          Cone-Rod Dystrophy and Hearing Loss + 2
          Congenital Cataracts, Hearing Loss, and Neurodegeneration 1
          Deafness + 385
          Deafness, Congenital Heart Defects, and Posterior Embryotoxon 1
          Deafness-Craniofacial Syndrome 0
          Ehlers-Danlos syndrome kyphoscoliotic type 2 11
          Functional Hearing Loss 0
          Hearing Loss, Mixed Conductive-Sensorineural + 0
          High-Frequency Hearing Loss + 3
          Iris Dysplasia Hypertelorism Deafness 0
          LADD syndrome + 3
          Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 0
          Microtia, Hearing Impairment, and Cleft Palate 2
          Mitchell syndrome 1
          Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay 2
          NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY 1
          Odontochondrodysplasia 2 with Hearing Loss and Diabetes 1
          Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 0
          Osteootohepatoenteric Syndrome 1
          Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 1
          Reardon Wilson Cavanagh Syndrome 0
          Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 0
          Unilateral Hearing Loss + 5
          camptodactyly-tall stature-scoliosis-hearing loss syndrome 1
          chromosome 6pter-p24 deletion syndrome 0
          midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 4
          neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities 19
          neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss 2
          sensorineural hearing loss + 613
          short stature, hearing loss, retinitis pigmentosa, and distinctive facies 1
          syndromic X-linked intellectual disability Abidi type 0
          uveal coloboma-cleft lip and palate-intellectual disability 1
Path 2
Term Annotations click to browse term
  disease 15778
    Pathological Conditions, Signs and Symptoms 12366
      Signs and Symptoms 10298
        Neurologic Manifestations 9982
          sensory system disease 7003
            Otorhinolaryngologic Diseases 1747
              auditory system disease 1030
                Hearing Disorders 811
                  Hearing Loss 806
                    ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS 0
                    BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME 1
                    Behr syndrome 1
                    Bilateral Hearing Loss + 5
                    Branchial Arch Syndrome X-Linked 0
                    CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME 1
                    Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis + 2
                    Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus 3
                    Conductive Hearing Loss + 9
                    Cone-Rod Dystrophy and Hearing Loss + 2
                    Congenital Cataracts, Hearing Loss, and Neurodegeneration 1
                    Deafness + 385
                    Deafness, Congenital Heart Defects, and Posterior Embryotoxon 1
                    Deafness-Craniofacial Syndrome 0
                    Ehlers-Danlos syndrome kyphoscoliotic type 2 11
                    Functional Hearing Loss 0
                    Hearing Loss, Mixed Conductive-Sensorineural + 0
                    High-Frequency Hearing Loss + 3
                    Iris Dysplasia Hypertelorism Deafness 0
                    LADD syndrome + 3
                    Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 0
                    Microtia, Hearing Impairment, and Cleft Palate 2
                    Mitchell syndrome 1
                    Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay 2
                    NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY 1
                    Odontochondrodysplasia 2 with Hearing Loss and Diabetes 1
                    Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 0
                    Osteootohepatoenteric Syndrome 1
                    Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 1
                    Reardon Wilson Cavanagh Syndrome 0
                    Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 0
                    Unilateral Hearing Loss + 5
                    camptodactyly-tall stature-scoliosis-hearing loss syndrome 1
                    chromosome 6pter-p24 deletion syndrome 0
                    midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 4
                    neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities 19
                    neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss 2
                    sensorineural hearing loss + 613
                    short stature, hearing loss, retinitis pigmentosa, and distinctive facies 1
                    syndromic X-linked intellectual disability Abidi type 0
                    uveal coloboma-cleft lip and palate-intellectual disability 1
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