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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:autosomal dominant nonsyndromic deafness
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Accession:DOID:0050564 term browser browse the term
Definition:A nonsyndromic deafness characterized by an autosomal dominant inheritance mode. (DO)
Synonyms:exact_synonym: AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA;   autosomal dominant deafness
 xref: OMIM:PS124900;   ORDO:90635
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
autosomal dominant nonsyndromic deafness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar NCBI chr 4:145,704,779...145,948,997
Ensembl chr 4:145,703,046...146,016,325
JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chr18:1,537,315...1,784,260
Ensembl chr18:1,723,565...1,784,233
JBrowse link
G Pde1c phosphodiesterase 1C ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:29860631 NCBI chr 4:86,359,762...86,925,044
Ensembl chr 4:86,359,820...86,630,543
JBrowse link
G Pls1 plastin 1 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:31397523 NCBI chr 8:103,557,361...103,659,625
Ensembl chr 8:103,557,364...103,608,913
JBrowse link
autosomal dominant auditory neuropathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph3 diaphanous-related formin 3 ISO ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant, 1
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:20624953 PMID:25741868 PMID:28492532 NCBI chr15:69,928,507...70,400,077
Ensembl chr15:70,039,424...70,399,924
JBrowse link
Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
DNA:missense mutations:cds:p.P17T, p.V18P (human)
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:30311386, PMID:11175790 RGD:12910984 NCBI chr14:6,926,972...6,933,079
Ensembl chr14:6,926,976...6,933,070
JBrowse link
Autosomal Dominant Deafness 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 4 ClinVar PMID:15015131 PMID:15845534 PMID:16222661 PMID:23967202 PMID:24033266 PMID:24082139 PMID:25741868 PMID:26284702 PMID:26346818 PMID:26467025 PMID:27393652 PMID:28492532 PMID:30311386 PMID:30828794 NCBI chr 1:100,608,975...100,671,086
Ensembl chr 1:100,608,966...100,671,074
JBrowse link
autosomal dominant nonsyndromic deafness 1 term browser
Symbol Object Name 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
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9360932 PMID:22938506 PMID:23804846 PMID:24033266 PMID:25342930 PMID:25741868 PMID:26011067 PMID:26467025 PMID:26912466 PMID:27707755 PMID:27808407 PMID:27911912 PMID:28492532 PMID:28815995 PMID:30311386 NCBI chr18:30,972,907...31,071,371
Ensembl chr18:30,972,907...31,071,371
JBrowse link
autosomal dominant nonsyndromic deafness 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 10
ClinVar Annotator: match by OMIM:601316
OMIM
ClinVar
PMID:11159937 PMID:15735644 PMID:17567890 PMID:17568404 PMID:23861362 PMID:23990876 PMID:24033266 PMID:25681523 PMID:25741868 PMID:25781927 PMID:28492532 PMID:28798025 PMID:30165862 PMID:30828794 NCBI chr 1:23,237,617...23,611,580
Ensembl chr 1:23,409,408...23,610,164
JBrowse link
autosomal dominant nonsyndromic deafness 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 11
ClinVar Annotator: match by OMIM:601317
OMIM
ClinVar
PMID:3130723 PMID:8900236 PMID:9354784 PMID:9382091 PMID:9718356 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10930322 PMID:12112664 PMID:15043528 PMID:15121790 PMID:15221449 PMID:15300860 PMID:15660226 PMID:16400615 PMID:16449806 PMID:16470552 PMID:16652077 PMID:16679490 PMID:16963483 PMID:17361009 PMID:17960123 PMID:18181211 PMID:18323324 PMID:18463160 PMID:18484607 PMID:18700726 PMID:19074810 PMID:19299023 PMID:19683999 PMID:20052763 PMID:20146813 PMID:20497194 PMID:20513143 PMID:20613545 PMID:21150918 PMID:21311020 PMID:21436283 PMID:21487335 PMID:21569298 PMID:21738395 PMID:21873662 PMID:22135276 PMID:22681893 PMID:22785243 PMID:23226338 PMID:23237960 PMID:23383098 PMID:23451214 PMID:23451239 PMID:23770805 PMID:23804846 PMID:24033266 PMID:24105371 PMID:24199935 PMID:24498627 PMID:24618850 PMID:24831256 PMID:24875298 PMID:25262649 PMID:25333064 PMID:25468891 PMID:25525159 PMID:25558175 PMID:25741868 PMID:25788563 PMID:26226137 PMID:26309859 PMID:26338283 PMID:26467025 PMID:26791358 PMID:26969326 PMID:27068579 PMID:27344577 PMID:27460420 PMID:27610647 PMID:27729122 PMID:27766948 PMID:27911912 PMID:28041643 PMID:28492532 PMID:28802369 PMID:29490346 PMID:30245029 PMID:30311386 PMID:30718709 NCBI chr 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
JBrowse link
autosomal dominant nonsyndromic deafness 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8
ClinVar Annotator: match by term: Deafness, autosomal dominant 12
ClinVar Annotator: match by OMIM:601543
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9590290 PMID:10196713 PMID:10987647 PMID:11333869 PMID:12021773 PMID:12162770 PMID:16718611 PMID:17661817 PMID:18575463 PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:22980975 PMID:23967202 PMID:24033266 PMID:24586623 PMID:25262649 PMID:25741868 PMID:26467025 PMID:27068579 PMID:27627659 PMID:28000701 PMID:28492532 PMID:29196752 PMID:30311386 PMID:31163360 NCBI chr 8:46,603,728...46,675,658
Ensembl chr 8:46,603,728...46,675,544
JBrowse link
autosomal dominant nonsyndromic deafness 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 13 ClinVar PMID:1157798 PMID:11802208 PMID:12161611 PMID:15744030 PMID:15923272 PMID:16489001 PMID:17403394 PMID:18036263 PMID:19404736 PMID:20516115 PMID:21702907 PMID:22034289 PMID:22889855 PMID:23867111 PMID:24055113 PMID:25637381 PMID:25741868 PMID:26287763 PMID:26467025 PMID:26689913 PMID:27495310 PMID:28024868 PMID:28492532 PMID:28781887 PMID:30209399 PMID:30263132 PMID:30458859 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 13
ClinVar Annotator: match by OMIM:601868
OMIM
ClinVar
PMID:10581026 PMID:15372529 PMID:24033266 PMID:25633957 PMID:25741868 NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
JBrowse link
autosomal dominant nonsyndromic deafness 15 term browser
Symbol Object Name 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 15
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:602459
OMIM
ClinVar
PMID:9506947 PMID:14585957 PMID:18228599 PMID:20434433 PMID:24033266 PMID:24260153 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29850532 PMID:30311386 NCBI chr18:36,713,869...36,716,461
Ensembl chr18:36,713,869...36,716,461
JBrowse link
autosomal dominant nonsyndromic deafness 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Strc stereocilin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:22147502 PMID:24033266 NCBI chr 3:113,324,403...113,343,513
Ensembl chr 3:113,324,698...113,342,675
JBrowse link
G Tmc1 transmembrane channel-like 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:18381613 PMID:18616530 PMID:19187973 PMID:21917145 PMID:24033266 PMID:26833330 NCBI chr 1:238,336,919...238,525,792
Ensembl chr 1:238,336,919...238,441,500
JBrowse link
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name 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
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 17
OMIM
ClinVar
PMID:9390828 PMID:11023810 PMID:11590545 PMID:11752022 PMID:12533692 PMID:16969870 PMID:17146397 PMID:18059020 PMID:18676005 PMID:19557653 PMID:20588287 PMID:22123909 PMID:22477015 PMID:22995991 PMID:23144074 PMID:23349334 PMID:23409987 PMID:23804846 PMID:24033266 PMID:24130771 PMID:24186861 PMID:24643058 PMID:24890873 PMID:25077172 PMID:25505834 PMID:25741868 PMID:25752595 PMID:25949529 PMID:26226608 PMID:26346198 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28059092 PMID:28492532 PMID:29090586 PMID:30311386 PMID:30720677 PMID:31064749 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
autosomal dominant nonsyndromic deafness 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 20
ClinVar Annotator: match by OMIM:604717
OMIM
ClinVar
PMID:5654493 PMID:12519370 PMID:13680526 PMID:14684684 PMID:16773128 PMID:19477959 PMID:22366783 PMID:24033266 PMID:25741868 PMID:25792668 PMID:26467025 PMID:28000701 PMID:28492532 NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954
Ensembl chr10:75,643,054...75,644,954
JBrowse link
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 22
ClinVar Annotator: match by OMIM:606346
OMIM
ClinVar
PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 PMID:18212818 PMID:18348273 PMID:24033266 PMID:25741868 PMID:26445815 PMID:26467025 PMID:28492532 NCBI chr 8:87,583,649...87,731,271
Ensembl chr 8:87,630,916...87,731,269
JBrowse link
autosomal dominant nonsyndromic deafness 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 23
ClinVar Annotator: match by OMIM:605192
OMIM
ClinVar
PMID:10777717 PMID:12843324 PMID:15141091 PMID:16971658 PMID:19497856 PMID:21280147 PMID:21700001 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
JBrowse link
autosomal dominant nonsyndromic deafness 25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc17a8 solute carrier family 17 member 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 25 OMIM
ClinVar
PMID:18674745 PMID:23967202 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:30,215,231...30,274,993
Ensembl chr 7:30,216,104...30,274,984
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISS OMIM:605583 MouseDO NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
JBrowse link
autosomal dominant nonsyndromic deafness 27 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rest RE1-silencing transcription factor ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 27 OMIM
ClinVar
PMID:29961578 NCBI chr14:33,131,985...33,152,019
Ensembl chr14:33,134,511...33,164,141
JBrowse link
autosomal dominant nonsyndromic deafness 28 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grhl2 grainyhead-like transcription factor 2 ISO DNA:nonsense mutation:exon:
ClinVar Annotator: match by OMIM:608641
ClinVar
OMIM
PMID:12393799 PMID:23813623, PMID:12393799 RGD:1599382 NCBI chr 7:76,058,623...76,197,360
Ensembl chr 7:76,059,386...76,197,856
JBrowse link
autosomal dominant nonsyndromic deafness 2A term browser
Symbol Object Name 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: DFNA 2 Nonsyndromic Hearing Loss
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 2A
ClinVar Annotator: match by OMIM:600101
OMIM
ClinVar
PMID:8035838 PMID:9126484 PMID:10025409 PMID:10369879 PMID:10571947 PMID:10925378 PMID:11450843 PMID:12112653 PMID:15699719 PMID:16596322 PMID:18030493 PMID:18786918 PMID:20301388 PMID:20832469 PMID:20966080 PMID:21242547 PMID:21951272 PMID:22384008 PMID:22420747 PMID:23717403 PMID:23750663 PMID:24033266 PMID:25116015 PMID:25741868 PMID:26036578 PMID:30311386 NCBI chr 5:139,625,783...139,677,300
Ensembl chr 5:139,627,576...139,677,300
JBrowse link
autosomal dominant nonsyndromic deafness 2B term browser
Symbol Object Name 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 dominant 2b OMIM
ClinVar
PMID:9843210 PMID:16077902 PMID:21204020 PMID:23638949 PMID:24033266 PMID:28492532 NCBI chr 5:145,390,590...145,397,271
Ensembl chr 5:145,391,311...145,392,123
JBrowse link
autosomal dominant nonsyndromic deafness 34 term browser
Symbol Object Name 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
OMIM
PMID:49161 PMID:11687797 PMID:12355493 PMID:14872505 PMID:17038455 PMID:17213252 PMID:17393462 PMID:20159265 PMID:22566169 PMID:23421920 PMID:24033266 PMID:24123366 PMID:24135410 PMID:25038238 PMID:25596455 PMID:25741868 PMID:26020059 PMID:26531310 PMID:27994174 PMID:28492532 PMID:28692792 PMID:28847925 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
JBrowse link
autosomal dominant nonsyndromic deafness 36 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc1 transmembrane channel-like 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 36
ClinVar Annotator: match by OMIM:606705
OMIM
ClinVar
PMID:11850618 PMID:15354000 PMID:16134132 PMID:17250663 PMID:18616530 PMID:19180119 PMID:19187973 PMID:21250555 PMID:22607986 PMID:24033266 PMID:24416283 PMID:24827932 PMID:25388789 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:238,336,919...238,525,792
Ensembl chr 1:238,336,919...238,441,500
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 37 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 37 OMIM
ClinVar
PMID:30245514 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
JBrowse link
autosomal dominant nonsyndromic deafness 3A term browser
Symbol Object Name 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 dominant 3a
ClinVar Annotator: match by OMIM:601544
OMIM
ClinVar
PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 PMID:2706105 PMID:2956987 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:9856479 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10369869 PMID:10376574 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10704187 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10807696 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10980526 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11298683 PMID:11313751 PMID:11313763 PMID:11354642 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11918723 PMID:11935342 PMID:11968091 PMID:12064630 PMID:12072059 PMID:12081719 PMID:12111646 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12372058 PMID:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12457340 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12668604 PMID:12673800 PMID:12684873 PMID:12700168 PMID:12746422 PMID:12786758 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12872268 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14520102 PMID:14643477 PMID:14676473 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14738110 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15040442 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15482471 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15617546 PMID:15617550 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15790391 PMID:15832357 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:15996214 PMID:16059934 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16645853 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16931589 PMID:16945493 PMID:16950989 PMID:16952406 PMID:17018967 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17253936 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17462767 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17567887 PMID:17581693 PMID:17660464 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18294064 PMID:18353197 PMID:18414213 PMID:18472371 PMID:18560174 PMID:18570691 PMID:18607988 PMID:18668259 PMID:18684989 PMID:18688874 PMID:18776652 PMID:18793701 PMID:18804553 PMID:18924167 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19101659 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19384972 PMID:19465004 PMID:19567088 PMID:19586875 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19719946 PMID:19723508 PMID:19775242 PMID:19814620 PMID:19877196 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20096356 PMID:20096468 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20442751 PMID:20497192 PMID:20563649 PMID:20593197 PMID:20607074 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20854437 PMID:20863150 PMID:20890442 PMID:20937258 PMID:20956747 PMID:20981092 PMID:21040787 PMID:21056478 PMID:21094084 PMID:21094651 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21281533 PMID:21287563 PMID:21298213 PMID:21366436 PMID:21392827 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21510145 PMID:21728791 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21815880 PMID:21836520 PMID:21868108 PMID:21910243 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22037723 PMID:22103400 PMID:22106692 PMID:22281373 PMID:22384008 PMID:22389666 PMID:22429511 PMID:22450542 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22567861 PMID:22574200 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22937313 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23073770 PMID:23141775 PMID:23266159 PMID:23451214 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23554706 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23684175 PMID:23695287 PMID:23757202 PMID:23804846 PMID:23808595 PMID:23826813 PMID:23856378 PMID:23873582 PMID:23900770 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24078562 PMID:24123366 PMID:24158611 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24372583 PMID:24387126 PMID:24529908 PMID:24596593 PMID:24611097 PMID:24612839 PMID:24624091 PMID:24645897 PMID:24654934 PMID:24706568 PMID:24737404 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24814571 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25162826 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25288386 PMID:25326637 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25625422 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25808784 PMID:25937001 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26397989 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26467025 PMID:26482070 PMID:26553399 PMID:26681637 PMID:26749107 PMID:26763877 PMID:26778469 PMID:26832775 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27466889 PMID:27480936 PMID:27481527 PMID:27501294 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884173 PMID:27884957 PMID:28000701 PMID:28008688 PMID:28222800 PMID:28271504 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28651654 PMID:28704896 PMID:28900111 PMID:29062245 PMID:29106882 PMID:29140768 PMID:29148562 PMID:29196752 PMID:29362677 PMID:29501291 PMID:29921236 PMID:30094485 PMID:30168495 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30466042 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31370293 PMID:31569309 PMID:31620696 PMID:31992338 PMID:32090102 PMID:115556849 PMID:163800907 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
autosomal dominant nonsyndromic deafness 3B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb6 gap junction protein, beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b
ClinVar Annotator: match by OMIM:612643
OMIM
ClinVar
PMID:10471490 PMID:16547895 PMID:16950989 PMID:17259707 PMID:20858605 PMID:25262649 PMID:25741868 PMID:28492532 PMID:28501645 NCBI chr15:37,400,888...37,411,656
Ensembl chr15:37,400,889...37,410,848
JBrowse link
autosomal dominant nonsyndromic deafness 40 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crym crystallin, mu ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 40 ClinVar
OMIM
PMID:12471561 PMID:24033266 PMID:25741868 NCBI chr 1:189,944,895...189,960,069
Ensembl chr 1:189,944,895...189,960,073
JBrowse link
autosomal dominant nonsyndromic deafness 41 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P2rx2 purinergic receptor P2X 2 ISO ClinVar Annotator: match by OMIM:608224 OMIM
ClinVar
PMID:12161595 PMID:23345450 PMID:24211385 NCBI chr12:52,397,666...52,401,005
Ensembl chr12:52,397,792...52,401,015
JBrowse link
autosomal dominant nonsyndromic deafness 44 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc50 coiled-coil domain containing 50 ISO DNA:duplication:cds:c.1394_1401dupCACGGCAT(human)
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:17503326, PMID:17503326 RGD:9685138 NCBI chr11:76,742,179...76,804,695
Ensembl chr11:76,747,865...76,804,510
JBrowse link
autosomal dominant nonsyndromic deafness 48 term browser
Symbol Object Name 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 Annotator: match by OMIM:607841
ClinVar
OMIM
PMID:12736868 PMID:24033266 PMID:24616153 PMID:25741868 NCBI chr 7:71,000,299...71,019,386
Ensembl chr 7:71,004,417...71,019,372
JBrowse link
autosomal dominant nonsyndromic deafness 4A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component ISS OMIM:600652 MouseDO NCBI chr 1:80,773,819...80,783,898
Ensembl chr 1:80,773,819...80,783,898
JBrowse link
G Myh14 myosin heavy chain 14 ISO OMIM NCBI chr 1:100,608,975...100,671,086
Ensembl chr 1:100,608,966...100,671,074
JBrowse link
autosomal dominant nonsyndromic deafness 4B term browser
Symbol Object Name 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 dominant 4b
ClinVar Annotator: match by OMIM:614614
OMIM
ClinVar
PMID:7655461 PMID:21368133 PMID:24033266 PMID:25589040 PMID:28492532 NCBI chr 1:80,773,819...80,783,898
Ensembl chr 1:80,773,819...80,783,898
JBrowse link
autosomal dominant nonsyndromic deafness 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsdme gasdermin E ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 5
ClinVar Annotator: match by OMIM:600994
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9771715 PMID:14559215 PMID:14676472 PMID:17868390 PMID:19911014 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:79,934,075...79,999,678
Ensembl chr 4:79,934,887...79,989,572
JBrowse link
autosomal dominant nonsyndromic deafness 50 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir96 microRNA 96 ISO ClinVar Annotator: match by OMIM:613074 OMIM
ClinVar
PMID:14757864 PMID:19363479 NCBI chr 4:57,463,366...57,463,471
Ensembl chr 4:57,463,366...57,463,471
JBrowse link
autosomal dominant nonsyndromic deafness 51 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar
OMIM
PMID:20602916 NCBI chr 1:241,945,816...242,084,044
Ensembl chr 1:241,945,841...242,083,484
JBrowse link
autosomal dominant nonsyndromic deafness 52 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou4f3 POU class 4 homeobox 3 ISO OMIM NCBI chr18:36,713,869...36,716,461
Ensembl chr18:36,713,869...36,716,461
JBrowse link
autosomal dominant nonsyndromic deafness 56 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pappa1 pappalysin 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr 5:80,919,932...81,153,904
Ensembl chr 5:80,920,568...81,150,940
JBrowse link
G Tnc tenascin C ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56
ClinVar Annotator: match by OMIM:615629
OMIM
ClinVar
PMID:21681106 PMID:23936043 PMID:25741868 PMID:26467025 PMID:30311386 NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
JBrowse link
autosomal dominant nonsyndromic deafness 6 term browser
Symbol Object Name 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
ClinVar Annotator: match by OMIM:600965
OMIM
ClinVar
PMID:8595423 PMID:9817917 PMID:10521293 PMID:10624825 PMID:10679252 PMID:10760554 PMID:11161832 PMID:11244483 PMID:11317350 PMID:11694551 PMID:11709537 PMID:11709538 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12181639 PMID:12490066 PMID:12565131 PMID:12782971 PMID:12955714 PMID:15008830 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:15852062 PMID:16408729 PMID:16648378 PMID:17492394 PMID:17517145 PMID:17603484 PMID:18414213 PMID:18544103 PMID:18688868 PMID:18806274 PMID:19292454 PMID:20738327 PMID:20875904 PMID:21446023 PMID:21917145 PMID:22938506 PMID:23429432 PMID:23535966 PMID:23595122 PMID:23856252 PMID:23990876 PMID:24033266 PMID:24875298 PMID:24909696 PMID:25133958 PMID:25262649 PMID:25388789 PMID:25497598 PMID:25741868 PMID:25895475 PMID:26467025 PMID:27185633 PMID:27617222 PMID:28432734 PMID:28492532 PMID:31363008 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
JBrowse link
autosomal dominant nonsyndromic deafness 64 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diablo diablo, IAP-binding mitochondrial protein ISO ClinVar Annotator: match by OMIM:614152 OMIM
ClinVar
PMID:21722859 NCBI chr12:38,490,230...38,503,344
Ensembl chr12:38,490,230...38,503,330
JBrowse link
autosomal dominant nonsyndromic deafness 65 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 65 OMIM
ClinVar
PMID:24033266 PMID:24291220 PMID:24729539 PMID:24729547 PMID:25741868 PMID:25769375 PMID:26371875 PMID:27281533 PMID:27502353 PMID:28292732 PMID:28428906 PMID:28492532 PMID:29100083 PMID:30311386 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
autosomal dominant nonsyndromic deafness 66 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd164 CD164 molecule ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 66 ClinVar
OMIM
PMID:26197441 NCBI chr20:46,250,418...46,261,994
Ensembl chr20:46,250,363...46,261,994
JBrowse link
autosomal dominant nonsyndromic deafness 67 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Osbpl2 oxysterol binding protein-like 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 67 OMIM
ClinVar
PMID:25759012 NCBI chr 3:175,493,650...175,538,965
Ensembl chr 3:175,493,698...175,538,963
JBrowse link
autosomal dominant nonsyndromic deafness 68 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Homer2 homer scaffold protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 68 OMIM
ClinVar
PMID:25816005 PMID:30047143 NCBI chr 1:143,443,300...143,535,579
Ensembl chr 1:143,443,300...143,535,583
JBrowse link
autosomal dominant nonsyndromic deafness 69 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kitlg KIT ligand ISO ClinVar Annotator: match by term: DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC OMIM
ClinVar
PMID:26522471 NCBI chr 7:42,269,784...42,351,054
Ensembl chr 7:42,269,784...42,351,054
JBrowse link
autosomal dominant nonsyndromic deafness 7 term browser
Symbol Object Name 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 OMIM
ClinVar
PMID:29754270 NCBI chr13:85,916,753...86,061,534
Ensembl chr13:85,918,252...86,061,176
JBrowse link
autosomal dominant nonsyndromic deafness 70 term browser
Symbol Object Name 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
OMIM
PMID:25741868 PMID:26196677 NCBI chr 4:120,825,699...120,840,221
Ensembl chr 4:120,825,699...120,840,111
JBrowse link
autosomal dominant nonsyndromic deafness 71 term browser
Symbol Object Name 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
OMIM
PMID:25741868 PMID:27657680 NCBI chr 8:58,932,575...59,077,788
Ensembl chr 8:58,932,580...59,077,690
JBrowse link
autosomal dominant nonsyndromic deafness 72 term browser
Symbol Object Name 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
OMIM
PMID:28013291 NCBI chr20:4,593,389...4,609,641
Ensembl chr20:4,593,389...4,609,631
JBrowse link
autosomal dominant nonsyndromic deafness 73 term browser
Symbol Object Name 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
OMIM
PMID:25741868 PMID:29309402 NCBI chr 7:49,763,657...50,034,932
Ensembl chr 7:49,763,657...50,034,932
JBrowse link
autosomal dominant nonsyndromic deafness 74 term browser
Symbol Object Name 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
OMIM
PMID:29860631 NCBI chr 4:86,359,762...86,925,044
Ensembl chr 4:86,359,820...86,630,543
JBrowse link
autosomal dominant nonsyndromic deafness 75 term browser
Symbol Object Name 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 OMIM
ClinVar
PMID:25741868 PMID:31231791 NCBI chr12:11,537,950...11,627,563
Ensembl chr12:11,537,950...11,627,563
JBrowse link
autosomal dominant nonsyndromic deafness 76 term browser
Symbol Object Name 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
OMIM
PMID:25741868 PMID:30872814 PMID:31397523 PMID:31432506 NCBI chr 8:103,557,361...103,659,625
Ensembl chr 8:103,557,364...103,608,913
JBrowse link
autosomal dominant nonsyndromic deafness 77 term browser
Symbol Object Name 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: DEAFNESS, AUTOSOMAL DOMINANT 77 OMIM
ClinVar
PMID:31273342 NCBI chr10:549,537...672,235
Ensembl chr10:549,883...672,196
JBrowse link
autosomal dominant nonsyndromic deafness 78 term browser
Symbol Object Name 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 OMIM
ClinVar
PMID:32294086 PMID:32658972 NCBI chr18:52,917,124...52,985,281
Ensembl chr18:52,917,124...52,985,261
JBrowse link
autosomal dominant nonsyndromic deafness 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coch cochlin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 9
ClinVar Annotator: match by OMIM:601369
OMIM
ClinVar
PMID:8817345 PMID:9806553 PMID:9931344 PMID:10400989 PMID:11332404 PMID:12928864 PMID:14512963 PMID:16151338 PMID:16261627 PMID:16481359 PMID:18312449 PMID:19161137 PMID:22534022 PMID:24033266 PMID:24662630 PMID:25230692 PMID:25741868 PMID:25780252 PMID:28492532 PMID:28733840 NCBI chr 6:72,359,702...72,373,710
Ensembl chr 6:72,359,791...72,373,695
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    sensory system disease 5285
      auditory system disease 767
        inner ear disease 535
          sensorineural hearing loss 496
            autosomal dominant nonsyndromic deafness 57
              Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 1
              Autosomal Dominant Deafness 4 1
              Autosomal Dominant Nonsyndromic Deafness 37 1
              autosomal dominant auditory neuropathy 1 1
              autosomal dominant nonsyndromic deafness 1 1
              autosomal dominant nonsyndromic deafness 10 1
              autosomal dominant nonsyndromic deafness 11 1
              autosomal dominant nonsyndromic deafness 12 1
              autosomal dominant nonsyndromic deafness 13 2
              autosomal dominant nonsyndromic deafness 15 1
              autosomal dominant nonsyndromic deafness 16 2
              autosomal dominant nonsyndromic deafness 17 1
              autosomal dominant nonsyndromic deafness 18 0
              autosomal dominant nonsyndromic deafness 20 1
              autosomal dominant nonsyndromic deafness 21 0
              autosomal dominant nonsyndromic deafness 22 1
              autosomal dominant nonsyndromic deafness 23 1
              autosomal dominant nonsyndromic deafness 24 0
              autosomal dominant nonsyndromic deafness 25 2
              autosomal dominant nonsyndromic deafness 27 1
              autosomal dominant nonsyndromic deafness 28 1
              autosomal dominant nonsyndromic deafness 2A 1
              autosomal dominant nonsyndromic deafness 2B 1
              autosomal dominant nonsyndromic deafness 30 0
              autosomal dominant nonsyndromic deafness 31 0
              autosomal dominant nonsyndromic deafness 33 0
              autosomal dominant nonsyndromic deafness 34 1
              autosomal dominant nonsyndromic deafness 36 1
              autosomal dominant nonsyndromic deafness 3A 1
              autosomal dominant nonsyndromic deafness 3B 1
              autosomal dominant nonsyndromic deafness 40 1
              autosomal dominant nonsyndromic deafness 41 1
              autosomal dominant nonsyndromic deafness 43 0
              autosomal dominant nonsyndromic deafness 44 1
              autosomal dominant nonsyndromic deafness 47 0
              autosomal dominant nonsyndromic deafness 48 1
              autosomal dominant nonsyndromic deafness 49 0
              autosomal dominant nonsyndromic deafness 4A 2
              autosomal dominant nonsyndromic deafness 4B 1
              autosomal dominant nonsyndromic deafness 5 1
              autosomal dominant nonsyndromic deafness 50 1
              autosomal dominant nonsyndromic deafness 51 1
              autosomal dominant nonsyndromic deafness 52 1
              autosomal dominant nonsyndromic deafness 53 0
              autosomal dominant nonsyndromic deafness 54 0
              autosomal dominant nonsyndromic deafness 56 3
              autosomal dominant nonsyndromic deafness 58 0
              autosomal dominant nonsyndromic deafness 59 0
              autosomal dominant nonsyndromic deafness 6 1
              autosomal dominant nonsyndromic deafness 64 1
              autosomal dominant nonsyndromic deafness 65 1
              autosomal dominant nonsyndromic deafness 66 1
              autosomal dominant nonsyndromic deafness 67 1
              autosomal dominant nonsyndromic deafness 68 1
              autosomal dominant nonsyndromic deafness 69 1
              autosomal dominant nonsyndromic deafness 7 1
              autosomal dominant nonsyndromic deafness 70 1
              autosomal dominant nonsyndromic deafness 71 1
              autosomal dominant nonsyndromic deafness 72 1
              autosomal dominant nonsyndromic deafness 73 1
              autosomal dominant nonsyndromic deafness 74 1
              autosomal dominant nonsyndromic deafness 75 1
              autosomal dominant nonsyndromic deafness 76 1
              autosomal dominant nonsyndromic deafness 77 1
              autosomal dominant nonsyndromic deafness 78 1
              autosomal dominant nonsyndromic deafness 79 0
              autosomal dominant nonsyndromic deafness 9 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          Otorhinolaryngologic Diseases 1202
            auditory system disease 767
              Hearing Disorders 624
                Hearing Loss 619
                  Deafness 278
                    nonsyndromic deafness 168
                      autosomal dominant nonsyndromic deafness 57
                        Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 1
                        Autosomal Dominant Deafness 4 1
                        Autosomal Dominant Nonsyndromic Deafness 37 1
                        autosomal dominant auditory neuropathy 1 1
                        autosomal dominant nonsyndromic deafness 1 1
                        autosomal dominant nonsyndromic deafness 10 1
                        autosomal dominant nonsyndromic deafness 11 1
                        autosomal dominant nonsyndromic deafness 12 1
                        autosomal dominant nonsyndromic deafness 13 2
                        autosomal dominant nonsyndromic deafness 15 1
                        autosomal dominant nonsyndromic deafness 16 2
                        autosomal dominant nonsyndromic deafness 17 1
                        autosomal dominant nonsyndromic deafness 18 0
                        autosomal dominant nonsyndromic deafness 20 1
                        autosomal dominant nonsyndromic deafness 21 0
                        autosomal dominant nonsyndromic deafness 22 1
                        autosomal dominant nonsyndromic deafness 23 1
                        autosomal dominant nonsyndromic deafness 24 0
                        autosomal dominant nonsyndromic deafness 25 2
                        autosomal dominant nonsyndromic deafness 27 1
                        autosomal dominant nonsyndromic deafness 28 1
                        autosomal dominant nonsyndromic deafness 2A 1
                        autosomal dominant nonsyndromic deafness 2B 1
                        autosomal dominant nonsyndromic deafness 30 0
                        autosomal dominant nonsyndromic deafness 31 0
                        autosomal dominant nonsyndromic deafness 33 0
                        autosomal dominant nonsyndromic deafness 34 1
                        autosomal dominant nonsyndromic deafness 36 1
                        autosomal dominant nonsyndromic deafness 3A 1
                        autosomal dominant nonsyndromic deafness 3B 1
                        autosomal dominant nonsyndromic deafness 40 1
                        autosomal dominant nonsyndromic deafness 41 1
                        autosomal dominant nonsyndromic deafness 43 0
                        autosomal dominant nonsyndromic deafness 44 1
                        autosomal dominant nonsyndromic deafness 47 0
                        autosomal dominant nonsyndromic deafness 48 1
                        autosomal dominant nonsyndromic deafness 49 0
                        autosomal dominant nonsyndromic deafness 4A 2
                        autosomal dominant nonsyndromic deafness 4B 1
                        autosomal dominant nonsyndromic deafness 5 1
                        autosomal dominant nonsyndromic deafness 50 1
                        autosomal dominant nonsyndromic deafness 51 1
                        autosomal dominant nonsyndromic deafness 52 1
                        autosomal dominant nonsyndromic deafness 53 0
                        autosomal dominant nonsyndromic deafness 54 0
                        autosomal dominant nonsyndromic deafness 56 3
                        autosomal dominant nonsyndromic deafness 58 0
                        autosomal dominant nonsyndromic deafness 59 0
                        autosomal dominant nonsyndromic deafness 6 1
                        autosomal dominant nonsyndromic deafness 64 1
                        autosomal dominant nonsyndromic deafness 65 1
                        autosomal dominant nonsyndromic deafness 66 1
                        autosomal dominant nonsyndromic deafness 67 1
                        autosomal dominant nonsyndromic deafness 68 1
                        autosomal dominant nonsyndromic deafness 69 1
                        autosomal dominant nonsyndromic deafness 7 1
                        autosomal dominant nonsyndromic deafness 70 1
                        autosomal dominant nonsyndromic deafness 71 1
                        autosomal dominant nonsyndromic deafness 72 1
                        autosomal dominant nonsyndromic deafness 73 1
                        autosomal dominant nonsyndromic deafness 74 1
                        autosomal dominant nonsyndromic deafness 75 1
                        autosomal dominant nonsyndromic deafness 76 1
                        autosomal dominant nonsyndromic deafness 77 1
                        autosomal dominant nonsyndromic deafness 78 1
                        autosomal dominant nonsyndromic deafness 79 0
                        autosomal dominant nonsyndromic deafness 9 1
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