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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 recessive nonsyndromic deafness
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Accession:DOID:0050565 term browser browse the term
Definition:A nonsyndromic deafness characterized by an autosomal recessive inheritance mode. (DO)
Synonyms:exact_synonym: AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB;   autosomal recessive deafness
 primary_id: MESH:C564609
 alt_id: OMIM:607197
 xref: OMIM:PS220290
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
autosomal recessive nonsyndromic deafness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd36 ankyrin repeat domain 36 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr14:85,814,809...85,931,577 JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISS OMIM:607197 MouseDO NCBI chr 4:115,417,100...115,435,754
Ensembl chr 4:115,416,580...115,437,206
JBrowse link
G Cdh23 cadherin-related 23 ISO DNA:missense mutations:multiple RGD PMID:17850630 RGD:8662281 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Clic5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr 9:19,121,676...19,372,673
Ensembl chr 9:19,121,677...19,372,673
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 PMID:9600457 PMID:9620796 PMID:9819448 PMID:10204859 PMID:10369869 PMID:10376574 PMID:10422812 PMID:10477435 PMID:10508996 PMID:10544226 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10713883 PMID:10751669 PMID:10782932 PMID:10807696 PMID:10982182 PMID:11313751 PMID:11313763 PMID:11386851 PMID:11483639 PMID:11493200 PMID:11668644 PMID:11918723 PMID:12072059 PMID:12081719 PMID:12172392 PMID:12176036 PMID:12239718 PMID:12522556 PMID:12684873 PMID:12786762 PMID:14070830 PMID:14986832 PMID:15040442 PMID:15070423 PMID:15113126 PMID:15359540 PMID:15365987 PMID:15482471 PMID:15666300 PMID:15954104 PMID:15967879 PMID:16088916 PMID:16336662 PMID:16380907 PMID:16773579 PMID:16868655 PMID:17428550 PMID:17553572 PMID:17993581 PMID:18294064 PMID:18414213 PMID:18804553 PMID:18925674 PMID:18985073 PMID:19371219 PMID:19375528 PMID:19925344 PMID:20073550 PMID:20236118 PMID:20301449 PMID:20739944 PMID:20815033 PMID:21056478 PMID:21465647 PMID:21468573 PMID:21910243 PMID:22567152 PMID:22855627 PMID:22975760 PMID:22981120 PMID:23489192 PMID:23757202 PMID:24033266 PMID:24158611 PMID:24346070 PMID:25741868 PMID:25937001 PMID:25999548 PMID:26467025 PMID:26940866 PMID:26969326 PMID:28492532 PMID:29362677 PMID:29501291 PMID:30311386 PMID:30872814 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by null ClinVar PMID:10587579 NCBI chr 5:145,390,590...145,397,271
Ensembl chr 5:145,391,311...145,392,123
JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:23768512 PMID:23894383 PMID:25741868 PMID:26133662 PMID:28492532 NCBI chr 8:116,826,251...116,856,159
Ensembl chr 8:116,826,680...116,856,159
JBrowse link
G Gpsm2 G-protein signaling modulator 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:20602914 PMID:22578326 NCBI chr 2:211,480,120...211,528,096
Ensembl chr 2:211,480,400...211,527,919
JBrowse link
G Loxhd1 lipoxygenase homology domains 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:19732867 PMID:21465660 PMID:25741868 PMID:25792669 PMID:28000701 PMID:28492532 NCBI chr18:73,645,365...73,812,271
Ensembl chr18:73,645,907...73,812,271
JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
G Otof otoferlin ISO DNA:missense mutation:cds:p.I318N (mouse)
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:27082237, PMID:17967520 RGD:9479154 NCBI chr 6:27,328,343...27,424,864
Ensembl chr 6:27,328,406...27,424,864
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr 6:50,809,103...50,848,443
Ensembl chr 6:50,808,923...50,846,965
JBrowse link
autosomal recessive nonsyndromic deafness 100 term browser
Symbol Object Name 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 OMIM
ClinVar
PMID:15538632 PMID:29590114 NCBI chr 9:111,232,967...111,249,613
Ensembl chr 9:111,220,858...111,286,185
JBrowse link
autosomal recessive nonsyndromic deafness 101 term browser
Symbol Object Name 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
OMIM
PMID:24619944 NCBI chr18:36,308,925...36,334,643
Ensembl chr18:36,308,925...36,322,320
JBrowse link
autosomal recessive nonsyndromic deafness 102 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eps8 epidermal growth factor receptor pathway substrate 8 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 102 ClinVar
OMIM
PMID:24033266 PMID:24741995 PMID:25741868 NCBI chr 4:171,475,155...171,645,620
Ensembl chr 4:171,475,567...171,591,882
JBrowse link
autosomal recessive nonsyndromic deafness 103 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clic5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 103 ClinVar
OMIM
PMID:24033266 PMID:24781754 PMID:25741868 PMID:28492532 NCBI chr 9:19,121,676...19,372,673
Ensembl chr 9:19,121,677...19,372,673
JBrowse link
autosomal recessive nonsyndromic deafness 104 term browser
Symbol Object Name 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 recessive 104 ClinVar
OMIM
PMID:24958875 NCBI chr17:42,324,594...42,549,907
Ensembl chr17:42,324,594...42,422,053
JBrowse link
autosomal recessive nonsyndromic deafness 106 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eps8 epidermal growth factor receptor pathway substrate 8 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 106 ClinVar PMID:28492532 NCBI chr 4:171,475,155...171,645,620
Ensembl chr 4:171,475,567...171,591,882
JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 106 ClinVar
OMIM
PMID:26282398 PMID:28281779 NCBI chr 1:214,327,992...214,353,466
Ensembl chr 1:214,328,071...214,353,461
JBrowse link
autosomal recessive nonsyndromic deafness 107 term browser
Symbol Object Name 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
OMIM
PMID:26881968 NCBI chr10:104,629,563...104,637,906
Ensembl chr10:104,630,573...104,637,823
JBrowse link
autosomal recessive nonsyndromic deafness 108 term browser
Symbol Object Name 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
OMIM
PMID:27162350 NCBI chr 5:118,892,874...119,239,528
Ensembl chr 5:119,097,715...119,241,733
JBrowse link
autosomal recessive nonsyndromic deafness 109 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esrp1 epithelial splicing regulatory protein 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 109 ClinVar
OMIM
PMID:25741868 PMID:29107558 NCBI chr 5:24,576,988...24,631,758
Ensembl chr 5:24,576,991...24,631,698
JBrowse link
autosomal recessive nonsyndromic deafness 110 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 RECESSIVE 110 OMIM
ClinVar
PMID:25741868 PMID:29449721 NCBI chr 6:72,359,702...72,373,710
Ensembl chr 6:72,359,791...72,373,695
JBrowse link
autosomal recessive nonsyndromic deafness 111 term browser
Symbol Object Name 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
OMIM
PMID:28492532 PMID:29961571 PMID:29982980 NCBI chr 8:49,342,067...49,353,080
Ensembl chr 8:49,342,067...49,353,080
JBrowse link
autosomal recessive nonsyndromic deafness 112 term browser
Symbol Object Name 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: DEAFNESS, AUTOSOMAL RECESSIVE 112 ClinVar
OMIM
PMID:24312468 NCBI chr 2:30,248,458...30,340,211
Ensembl chr 2:30,250,633...30,340,208
JBrowse link
autosomal recessive nonsyndromic deafness 113 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 RECESSIVE 113 OMIM
ClinVar
PMID:29703829 NCBI chr 1:80,773,819...80,783,898
Ensembl chr 1:80,773,819...80,783,898
JBrowse link
autosomal recessive nonsyndromic deafness 114 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grap GRB2-related adaptor protein ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 114 OMIM
ClinVar
PMID:25741868 PMID:30610177 NCBI chr10:47,930,633...47,949,774
Ensembl chr10:47,930,633...47,949,773
JBrowse link
autosomal recessive nonsyndromic deafness 115 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spns2 sphingolipid transporter 2 ISO OMIM NCBI chr10:59,010,428...59,049,482
Ensembl chr10:59,010,428...59,049,482
JBrowse link
autosomal recessive nonsyndromic deafness 116 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 116 OMIM
ClinVar
PMID:31175426 NCBI chr10:13,003,010...13,004,441
Ensembl chr10:13,003,011...13,004,441
JBrowse link
autosomal recessive nonsyndromic deafness 12 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: Deafness, autosomal recessive 12, modifier of OMIM
ClinVar
PMID:15829536 PMID:22047666 PMID:25741868 PMID:27535533 PMID:28492532 NCBI chr 4:145,704,779...145,948,997
Ensembl chr 4:145,703,046...146,016,325
JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12
ClinVar Annotator: match by OMIM:601386
OMIM
ClinVar
PMID:2289998 PMID:2706105 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:12522556 PMID:12910270 PMID:15353998 PMID:15537665 PMID:15660226 PMID:15829536 PMID:16679490 PMID:16963483 PMID:17407589 PMID:17850630 PMID:18273900 PMID:18323324 PMID:18348277 PMID:18429043 PMID:19375528 PMID:19683999 PMID:19888295 PMID:20146813 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21228398 PMID:21436283 PMID:21569298 PMID:21738395 PMID:21917145 PMID:21940737 PMID:22135276 PMID:22443853 PMID:22607986 PMID:22899989 PMID:22995991 PMID:23591405 PMID:23757202 PMID:23804846 PMID:23967202 PMID:24006325 PMID:24033266 PMID:24164807 PMID:24416283 PMID:24498627 PMID:24618850 PMID:24767429 PMID:24875298 PMID:25262649 PMID:25279224 PMID:25333064 PMID:25356970 PMID:25373420 PMID:25404053 PMID:25468891 PMID:25472526 PMID:25474345 PMID:25587757 PMID:25741868 PMID:25788563 PMID:25963016 PMID:26264712 PMID:26346818 PMID:26467025 PMID:26633542 PMID:26763877 PMID:26969326 PMID:27068579 PMID:27460420 PMID:27583405 PMID:27743452 PMID:27792758 PMID:27884173 PMID:28492532 PMID:28912962 PMID:30029624 PMID:30123251 PMID:30245029 PMID:30367262 PMID:30718709 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G LOC100361018 rCG22048-like ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Deafness, autosomal recessive 12
ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 PMID:17850630 PMID:18273900 PMID:18429043 PMID:20146813 PMID:21228398 PMID:21569298 PMID:21940737 PMID:22135276 PMID:22899989 PMID:24033266 PMID:24875298 PMID:25468891 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:29,947,427...29,954,869
Ensembl chr20:29,951,637...29,952,023
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
JBrowse link
autosomal recessive nonsyndromic deafness 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gipc3 GIPC PDZ domain containing family, member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 15
ClinVar Annotator: match by OMIM:601869
OMIM
CTD
ClinVar
PMID:9286457 PMID:17690910 PMID:21326233 PMID:21660509 PMID:24033266 PMID:25741868 PMID:26467025 NCBI chr 7:11,245,160...11,253,080
Ensembl chr 7:11,245,875...11,250,708
JBrowse link
autosomal recessive nonsyndromic deafness 16 term browser
Symbol Object Name 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 chr 3:113,357,361...113,379,498
Ensembl chr 3:113,357,365...113,376,751
JBrowse link
G Ckmt1 creatine kinase, mitochondrial 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr 3:113,318,559...113,324,459
Ensembl chr 3:113,318,563...113,324,461
JBrowse link
G Strc stereocilin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16
ClinVar Annotator: match by OMIM:603720
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:11687802 PMID:18414213 PMID:21078986 PMID:21681106 PMID:22147502 PMID:24033266 PMID:24963352 PMID:25157971 PMID:25741868 PMID:26011646 PMID:26467025 PMID:26746617 PMID:31552524 NCBI chr 3:113,324,403...113,343,513
Ensembl chr 3:113,324,698...113,342,675
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 18 ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16679490 PMID:16963483 PMID:17174357 PMID:17407589 PMID:18665195 PMID:20095043 PMID:20142502 PMID:20301442 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:23380860 PMID:24033266 PMID:24416283 PMID:24498627 PMID:24875298 PMID:25356976 PMID:25468891 PMID:25525159 PMID:25560255 PMID:25741868 PMID:26969326 PMID:27743452 PMID:28041643 PMID:28492532 PMID:30096381 PMID:30718709 NCBI chr 1:102,207,096...102,256,779
Ensembl chr 1:102,207,096...102,255,459
JBrowse link
autosomal recessive nonsyndromic deafness 18A term browser
Symbol Object Name 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 OMIM
ClinVar
PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:17174357 PMID:17407589 PMID:18665195 PMID:20095043 PMID:21436283 PMID:21569298 PMID:22135276 PMID:23380860 PMID:24033266 PMID:25741868 PMID:26969326 PMID:28041643 PMID:28492532 PMID:30718709, PMID:14519688 RGD:8694458 NCBI chr 1:102,207,096...102,256,779
Ensembl chr 1:102,207,096...102,255,459
JBrowse link
autosomal recessive nonsyndromic deafness 18B term browser
Symbol Object Name 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 OMIM:614945
OMIM
ClinVar
PMID:10655058 PMID:23122587 PMID:24033266 PMID:25741868 PMID:28050010 PMID:28492532 PMID:29196752 PMID:29907799 PMID:33223529 NCBI chr 1:102,258,124...102,327,201
Ensembl chr 1:102,258,124...102,327,201
JBrowse link
autosomal recessive nonsyndromic deafness 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryl1 crystallin, lambda 1 ISO ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
ClinVar PMID:15994881 PMID:17041943 PMID:18324688 PMID:20236118 PMID:28492532 NCBI chr15:37,543,727...37,663,586
Ensembl chr15:37,543,727...37,663,584
JBrowse link
G Eef1akmt1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:37,813,115...37,830,932
Ensembl chr15:37,813,115...37,831,031
JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:37,298,607...37,325,370
Ensembl chr15:37,299,738...37,325,178
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
ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3
ClinVar Annotator: match by OMIM:220290
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:9838096 PMID:9856479 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID:10369869 PMID:10376574 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10704187 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10807696 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10980526 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11385713 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:11977173 PMID:12064630 PMID:12072059 PMID:12081719 PMID:12111646 PMID:12112666 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12372058 PMID:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12457340 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12673800 PMID:12684873 PMID:12746422 PMID:12786758 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12872268 PMID:12885339 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14520102 PMID:14571368 PMID:14643477 PMID:14676473 PMID:14681040 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14738110 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15040442 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15146674 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15482471 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15603707 PMID:15617546 PMID:15617550 PMID:15633193 PMID:15638823 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15790391 PMID:15832357 PMID:15841999 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:15994881 PMID:15996214 PMID:16059934 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16154643 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16645853 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16885744 PMID:16931589 PMID:16950989 PMID:16952406 PMID:17018967 PMID:17036313 PMID:17041943 PMID:17077310 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17428836 PMID:17431919 PMID:17444514 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17567887 PMID:17567889 PMID:17581693 PMID:17660464 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18024254 PMID:18196482 PMID:18294064 PMID:18316665 PMID:18324688 PMID:18353197 PMID:18414213 PMID:18472371 PMID:18519481 PMID:18560174 PMID:18570691 PMID:18580690 PMID:18607988 PMID:18649181 PMID:18668259 PMID:18684989 PMID:18688874 PMID:18758381 PMID:18776652 PMID:18804553 PMID:18837651 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:18990456 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19101659 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19283857 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19384972 PMID:19390476 PMID:19465004 PMID:19567088 PMID: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:20059378 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:20412116 PMID:20441744 PMID:20497192 PMID:20542681 PMID:20553101 PMID:20563649 PMID:20593197 PMID:20607074 PMID:20639189 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 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:21292415 PMID:21298213 PMID:21298644 PMID:21366436 PMID:21388256 PMID:21392827 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21557232 PMID:21728791 PMID:21738759 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21815880 PMID:21836520 PMID:21844220 PMID:21910243 PMID:21912263 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22031297 PMID:22037723 PMID:22103400 PMID:22106692 PMID:22208444 PMID:22281373 PMID:22384008 PMID:22389666 PMID:22429511 PMID:22450542 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22567861 PMID:22574200 PMID:22592158 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22747691 PMID:22785241 PMID:22787277 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22937313 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23039283 PMID:23073770 PMID:23120683 PMID:23141775 PMID:23266159 PMID:23418865 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:23751281 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:24156272 PMID:24158611 PMID:24224790 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24372583 PMID:24503448 PMID:24507663 PMID:24529908 PMID:24551843 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:25188385 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25365227 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25560255 PMID:25587757 PMID:25625422 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25937001 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26046157 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26186295 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26397989 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26467025 PMID:26482070 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 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:27067584 PMID:27087580 PMID:27153395 PMID:27169813 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27466889 PMID:27480936 PMID:27481527 PMID:27501294 PMID:27518711 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27761313 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884173 PMID:27884957 PMID:28000701 PMID:28008688 PMID:28222800 PMID:28271504 PMID:28405014 PMID:28428247 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28651654 PMID:28704896 PMID:28900111 PMID:29062245 PMID:29106882 PMID:29148562 PMID:29196752 PMID:29311818 PMID:29362677 PMID:29501291 PMID:29542069 PMID:29605365 PMID:29773520 PMID:29921236 PMID:30094485 PMID:30146550 PMID:30168495 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30466042 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31162818 PMID:31163360 PMID:31195736 PMID:31370293 PMID:31569309 PMID:31620696 PMID:31992338 PMID:32090102 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
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:19050930 PMID:25741868 PMID:28492532 NCBI chr 5:145,390,590...145,397,271
Ensembl chr 5:145,391,311...145,392,123
JBrowse link
G Gjb4 gap junction protein, beta 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:17259707 PMID:25333454 PMID:25741868 NCBI chr 5:145,416,343...145,421,122
Ensembl chr 5:145,416,343...145,418,992
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
ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6, UMLS MESH term: Deafness, Digenic, Gjb2-Gjb6
OMIM
ClinVar
PMID:10610709 PMID:11017065 PMID:11807148 PMID:12172394 PMID:12419304 PMID:12788524 PMID:12885339 PMID:14571368 PMID:14708603 PMID:15213106 PMID:15638823 PMID:15769851 PMID:15994881 PMID:16547895 PMID:16950989 PMID:17041943 PMID:17666888 PMID:18324688 PMID:20536673 PMID:23219093 PMID:23863883 PMID:23926005 PMID:23981984 PMID:24033266 PMID:24514865 PMID:24522190 PMID:24685692 PMID:25262649 PMID:25741868 PMID:26551294 PMID:27137747 PMID:27817781 PMID:28492532 PMID:28501645 PMID:29771057 NCBI chr15:37,400,888...37,411,656
Ensembl chr15:37,400,889...37,410,848
JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:37,690,417...37,786,855
Ensembl chr15:37,691,345...37,784,924
JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:37,790,211...37,807,653
Ensembl chr15:37,790,141...37,807,660
JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:37,835,580...37,926,715
Ensembl chr15:37,835,580...37,926,715
JBrowse link
autosomal recessive nonsyndromic deafness 1B 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 recessive 1b ClinVar PMID:2706105 PMID:2956987 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9422505 PMID:9482292 PMID:9529365 PMID:9600457 PMID:9620796 PMID:9716127 PMID:9819448 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10369869 PMID:10376574 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10807696 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10980526 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11556849 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11807148 PMID:11912510 PMID:11918723 PMID:11935342 PMID:11968091 PMID:12064630 PMID:12072059 PMID:12081719 PMID:12111646 PMID:12112666 PMID:12121355 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12352684 PMID:12384501 PMID:12384781 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12560944 PMID:12684873 PMID:12746422 PMID:12786758 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12865758 PMID:12885339 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14520102 PMID:14571368 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14738110 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15040442 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15479191 PMID:15482471 PMID:15617550 PMID:15638823 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:15994881 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16950989 PMID:16952406 PMID:17018967 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17331080 PMID:17357124 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17505205 PMID:17553572 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18294064 PMID:18324688 PMID:18414213 PMID:18560174 PMID:18570691 PMID:18684989 PMID:18776652 PMID:18804553 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19465004 PMID:19586875 PMID:19707039 PMID:19715472 PMID:19723508 PMID:19814620 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20095872 PMID:20096468 PMID:20154630 PMID:20201936 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20497192 PMID:20563649 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20981092 PMID:21056478 PMID:21094084 PMID:21122151 PMID:21162657 PMID:21465647 PMID:21468573 PMID:21488715 PMID:21776002 PMID:21811586 PMID:21815880 PMID:21910243 PMID:22000900 PMID:22011219 PMID:22037723 PMID:22106692 PMID:22281373 PMID:22567152 PMID:22567369 PMID:22574200 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22855627 PMID:22937313 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23141775 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23554706 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23668481 PMID:23680645 PMID:23757202 PMID:23804846 PMID:23808595 PMID:23826813 PMID:23856378 PMID:23873582 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24123366 PMID:24158611 PMID:24341454 PMID:24346070 PMID:24529908 PMID:24611097 PMID:24624091 PMID:24645897 PMID:24654934 PMID:24737404 PMID:24793888 PMID:24814571 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25087612 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25288386 PMID:25326637 PMID:25388846 PMID:25555641 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25937001 PMID:25999548 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26444186 PMID:26467025 PMID:26482070 PMID:26681637 PMID:26778469 PMID:26832775 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:27045574 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27466889 PMID:27480936 PMID:27481527 PMID:27501294 PMID:27610647 PMID:27623246 PMID:27785406 PMID:27792752 PMID:27843504 PMID:27884957 PMID:28000701 PMID:28489599 PMID:28492532 PMID:29362677 PMID:29501291 PMID:29921236 PMID:30094485 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:32090102 PMID:115556849 PMID:163800907 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Gjb6 gap junction protein, beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b OMIM
ClinVar
PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 PMID:15994881 PMID:16547895 PMID:16950989 PMID:17041943 PMID:18324688 PMID:22106692 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 recessive nonsyndromic deafness 2 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: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2
ClinVar Annotator: match by term: Deafness, autosomal recessive 2
ClinVar Annotator: match by OMIM:600060
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:3130723 PMID:7568224 PMID:7870171 PMID:7951250 PMID:8900236 PMID:9002678 PMID:9171832 PMID:9171833 PMID:9259201 PMID:9382091 PMID:9718356 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10868224 PMID:10930322 PMID:11391666 PMID:12112664 PMID:15028842 PMID:15043528 PMID:15121790 PMID:15221449 PMID:15606003 PMID:15660226 PMID:15823922 PMID:16283880 PMID:16400615 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:19156839 PMID:19299023 PMID:19375528 PMID:19683999 PMID:20052763 PMID:20132242 PMID:20146813 PMID:20497194 PMID:20513143 PMID:20613545 PMID:20844544 PMID:21117948 PMID:21311020 PMID:21436283 PMID:21487335 PMID:21569298 PMID:21602428 PMID:21738395 PMID:21873662 PMID:21901789 PMID:22135276 PMID:22334370 PMID:22681893 PMID:22690115 PMID:22785243 PMID:22898263 PMID:22903915 PMID:23148716 PMID:23208854 PMID:23226338 PMID:23237960 PMID:23451214 PMID:23451239 PMID:23559863 PMID:23591405 PMID:23770805 PMID:23804846 PMID:23882135 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24194196 PMID:24199935 PMID:24498627 PMID:24618850 PMID:24831256 PMID:24853665 PMID:24875298 PMID:24997346 PMID:25080338 PMID:25133751 PMID:25262649 PMID:25333064 PMID:25373420 PMID:25404053 PMID:25468891 PMID:25472526 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25741868 PMID:25788563 PMID:26011067 PMID:26164827 PMID:26226137 PMID:26309859 PMID:26338283 PMID:26346818 PMID:26445815 PMID:26467025 PMID:26486028 PMID:26561413 PMID:26633542 PMID:26791358 PMID:26872967 PMID:26969326 PMID:27068579 PMID:27160483 PMID:27208204 PMID:27344577 PMID:27460420 PMID:27573290 PMID:27583663 PMID:27610647 PMID:27729122 PMID:27743452 PMID:27766948 PMID:27911912 PMID:27957503 PMID:28000701 PMID:28008688 PMID:28041643 PMID:28281779 PMID:28439001 PMID:28451532 PMID:28472130 PMID:28492532 PMID:28559085 PMID:28944237 PMID:28968992 PMID:29142287 PMID:29178603 PMID:29196752 PMID:29416772 PMID:29490346 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30390570 PMID:30459346 PMID:30718709 PMID:31479088 NCBI chr 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
JBrowse link
G Tmc1 transmembrane channel-like 1 ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2 ClinVar PMID:18381613 PMID:18616530 PMID:19187973 PMID:21917145 PMID:24033266 NCBI chr 1:238,336,919...238,525,792
Ensembl chr 1:238,336,919...238,441,500
JBrowse link
autosomal recessive nonsyndromic deafness 21 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 recessive 21
ClinVar Annotator: match by term: Deafness, neurosensory autosomal recessive 21
OMIM
ClinVar
PMID:9949200 PMID:12746400 PMID:17661817 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 recessive nonsyndromic deafness 22 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otoa otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 22
ClinVar Annotator: match by OMIM:607039
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:11972037 PMID:19888295 PMID:23173898 PMID:23690975 PMID:24033266 PMID:25373420 PMID:25741868 PMID:26434960 PMID:30740825 PMID:30828794 NCBI chr 1:191,029,861...191,097,524
Ensembl chr 1:191,029,861...191,097,290
JBrowse link
autosomal recessive nonsyndromic deafness 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 23
ClinVar Annotator: match by OMIM:609533
OMIM
ClinVar
PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 PMID:15028842 PMID:15660226 PMID:18484607 PMID:18719945 PMID:19107147 PMID:19375528 PMID:19683999 PMID:21436283 PMID:21569298 PMID:22815625 PMID:24033266 PMID:24105371 PMID:24498627 PMID:24705292 PMID:25262649 PMID:25307757 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25525159 PMID:25741868 PMID:27440999 PMID:27460420 PMID:28492532 NCBI chr20:14,952,213...15,334,745
Ensembl chr20:14,952,213...15,334,745
JBrowse link
autosomal recessive nonsyndromic deafness 24 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rdx radixin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 24
ClinVar Annotator: match by OMIM:611022
OMIM
ClinVar
PMID:17226784 PMID:19215054 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27231709 PMID:28492532 NCBI chr 8:56,570,728...56,612,851
Ensembl chr 8:56,585,396...56,610,612
JBrowse link
autosomal recessive nonsyndromic deafness 25 term browser
Symbol Object Name 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: Deafness, autosomal recessive 25
ClinVar Annotator: match by OMIM:613285
OMIM
ClinVar
PMID:20137774 PMID:20137778 PMID:24033266 PMID:25741868 PMID:25802247 PMID:26467025 PMID:28492532 NCBI chr14:41,663,688...41,787,331
Ensembl chr14:41,663,688...41,786,084
JBrowse link
autosomal recessive nonsyndromic deafness 26 term browser
Symbol Object Name 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 ClinVar
OMIM
PMID:11101839 PMID:25741868 PMID:29408807 NCBI chr19:30,794,290...30,903,819
Ensembl chr19:30,794,571...30,902,008
JBrowse link
autosomal recessive nonsyndromic deafness 28 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 28 ClinVar PMID:25741868 PMID:32109419 NCBI chr 2:80,471,398...80,769,313
Ensembl chr 2:80,473,202...80,667,481
JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 28
ClinVar Annotator: match by OMIM:609823
OMIM
ClinVar
PMID:16385457 PMID:16385458 PMID:23967202 PMID:24033266 PMID:25741868 PMID:27014650 PMID:28492532 NCBI chr 7:120,173,892...120,237,145
Ensembl chr 7:120,176,530...120,230,420
JBrowse link
autosomal recessive nonsyndromic deafness 29 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 29
ClinVar Annotator: match by OMIM:614035
OMIM
ClinVar
PMID:11163249 PMID:15880785 PMID:22246673 PMID:23590985 PMID:23991001 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26969326 PMID:27838790 PMID:28492532 NCBI chr11:34,132,581...34,142,813
Ensembl chr11:34,132,581...34,142,753
JBrowse link
autosomal recessive nonsyndromic deafness 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 3
ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3
ClinVar Annotator: match by OMIM:600316
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:2574186 PMID:7616538 PMID:7704031 PMID:9603736 PMID:10552926 PMID:11735029 PMID:17546645 PMID:17853461 PMID:19274735 PMID:20642360 PMID:21917145 PMID:22245518 PMID:22736430 PMID:22903915 PMID:23208854 PMID:23767834 PMID:23804846 PMID:23865914 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24123792 PMID:24130743 PMID:24206587 PMID:24498627 PMID:24875298 PMID:25262649 PMID:25741868 PMID:25792667 PMID:26226137 PMID:26242193 PMID:26399936 PMID:26445815 PMID:26467025 PMID:26633542 PMID:26915297 PMID:26969326 PMID:27068579 PMID:27375115 PMID:27436265 PMID:27734841 PMID:27870113 PMID:28000701 PMID:28492532 PMID:29986705 PMID:30311386 PMID:30622556 PMID:30828794 PMID:30953472 PMID:31980526 NCBI chr10:46,840,098...46,897,362
Ensembl chr10:46,840,113...46,896,054
JBrowse link
autosomal recessive nonsyndromic deafness 30 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo3a myosin IIIA ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 30
ClinVar Annotator: match by OMIM:607101
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:12032315 PMID:17344846 PMID:21165622 PMID:23967202 PMID:23990876 PMID:24033266 PMID:24214986 PMID:25741868 PMID:26166082 PMID:26467025 PMID:27068579 PMID:28492532 PMID:32006683 NCBI chr17:88,952,635...89,167,538
Ensembl chr17:88,963,981...89,167,018
JBrowse link
autosomal recessive nonsyndromic deafness 31 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Whrn whirlin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 31
ClinVar Annotator: match by OMIM:607084
OMIM
ClinVar
PMID:11973626 PMID:12833159 PMID:15841483 PMID:20352026 PMID:21569298 PMID:21654738 PMID:22135276 PMID:23804846 PMID:24033266 PMID:25262649 PMID:25404053 PMID:25468891 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30245029 NCBI chr 5:79,235,541...79,317,206
Ensembl chr 5:79,234,950...79,317,206
JBrowse link
autosomal recessive nonsyndromic deafness 32 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc14a cell division cycle 14A ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 32
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:12634867 PMID:25741868 PMID:27259055 PMID:29293958 NCBI chr 2:219,302,577...219,458,345
Ensembl chr 2:219,302,577...219,458,271
JBrowse link
autosomal recessive nonsyndromic deafness 35 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esrrb estrogen-related receptor beta ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 35
ClinVar Annotator: match by OMIM:608565
OMIM
ClinVar
PMID:12529709 PMID:18179891 PMID:22951369 PMID:23767834 PMID:24033266 PMID:25342930 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29636544 NCBI chr 6:110,360,940...110,458,406
Ensembl chr 6:110,410,141...110,455,906
JBrowse link
autosomal recessive nonsyndromic deafness 36 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Espn espin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 36, with or without vestibular involvement
ClinVar Annotator: match by term: Deafness, without vestibular involvement, autosomal dominant
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9763424 PMID:15286153 PMID:15930085 PMID:18973245 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29572253 NCBI chr 5:169,293,356...169,331,338
Ensembl chr 5:169,293,904...169,331,163
JBrowse link
autosomal recessive nonsyndromic deafness 37 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 recessive 37
ClinVar Annotator: match by OMIM:607821
OMIM
ClinVar
PMID:11167014 PMID:12687499 PMID:18212818 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 recessive nonsyndromic deafness 39 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hgf hepatocyte growth factor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 39
ClinVar Annotator: match by OMIM:608265
DNA:deletions,mutation:intron,exon:
OMIM
ClinVar
PMID:18564920 PMID:19576567 PMID:24033266 PMID:25741868 PMID:28492532, PMID:19576567 RGD:8548545 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
autosomal recessive nonsyndromic deafness 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxi1 forkhead box I1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct OMIM
ClinVar
PMID:17503324 PMID:20621367 PMID:20809947 PMID:24860705 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:19,160,566...19,164,505
Ensembl chr10:19,160,582...19,164,505
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
ClinVar Annotator: match by term: Dilated vestibular aqueduct
ClinVar Annotator: match by term: KCNJ10-Related Disorders
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
OMIM
ClinVar
PMID:19289823 PMID:19426954 PMID:20651251 PMID:20678478 PMID:20807765 PMID:21088294 PMID:23869231 PMID:23918157 PMID:23924083 PMID:24378235 PMID:24860705 PMID:25372295 PMID:25741868 PMID:26467025 PMID:27677466 PMID:27875746 PMID:28492532 PMID:28747464 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 ClinVar PMID:15205219 PMID:21465660 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26602028 PMID:28492532 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO 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: Enlarged vestibular aqueduct syndrome
ClinVar Annotator: match by term: Dilated vestibular aqueduct
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DNA:mutations:multiple (human)
DNA:transition:intron:g.IVS7-2A>G (human)
DNA:missense mutations, insertions, snp:multiple (human)
OMIM
ClinVar
PMID:2422447 PMID:8541853 PMID:9070918 PMID:9398842 PMID:9500541 PMID:9604973 PMID:9618166 PMID:9618167 PMID:10190331 PMID:10602116 PMID:10700480 PMID:10718825 PMID:10861298 PMID:10874637 PMID:10878664 PMID:10902795 PMID:11317356 PMID:11375792 PMID:11405873 PMID:11502831 PMID:11558900 PMID:11700190 PMID:11748854 PMID:11905055 PMID:11919333 PMID:11932316 PMID:12112665 PMID:12354788 PMID:12642503 PMID:12676893 PMID:12788906 PMID:12974744 PMID:14508505 PMID:14679580 PMID:14715652 PMID:15099345 PMID:15279074 PMID:15355436 PMID:15531480 PMID:15574297 PMID:15679828 PMID:15689455 PMID:15720248 PMID:15747138 PMID:15811013 PMID:15933521 PMID:16053392 PMID:16283880 PMID:16460646 PMID:16570074 PMID:16684826 PMID:16711435 PMID:16773579 PMID:16924389 PMID:16950989 PMID:16952406 PMID:17146393 PMID:17309986 PMID:17322586 PMID:17357124 PMID:17443271 PMID:17503324 PMID:17697873 PMID:17718863 PMID:17766716 PMID:17851929 PMID:17876604 PMID:17940114 PMID:18167283 PMID:18274916 PMID:18283249 PMID:18285825 PMID:18310264 PMID:18322141 PMID:18427006 PMID:18585793 PMID:18641518 PMID:18813951 PMID:18988928 PMID:19017801 PMID:19040761 PMID:19169484 PMID:19204907 PMID:19287372 PMID:19426954 PMID:19429184 PMID:19509082 PMID:19565036 PMID:19578036 PMID:19608655 PMID:19615760 PMID:19620588 PMID:19645628 PMID:19648736 PMID:19718752 PMID:19744334 PMID:19786220 PMID:19787632 PMID:20128824 PMID:20301640 PMID:20553101 PMID:20583162 PMID:20597900 PMID:20601923 PMID:20621367 PMID:20668687 PMID:20826203 PMID:20842945 PMID:20981092 PMID:21045265 PMID:21154317 PMID:21366435 PMID:21551164 PMID:21704276 PMID:21811566 PMID:21961810 PMID:22116358 PMID:22116359 PMID:22116360 PMID:22285650 PMID:22289209 PMID:22384008 PMID:22389666 PMID:22412181 PMID:22717225 PMID:22884721 PMID:22903915 PMID:22975760 PMID:23151025 PMID:23185506 PMID:23208854 PMID:23266159 PMID:23273637 PMID:23280318 PMID:23296490 PMID:23336812 PMID:23385134 PMID:23401162 PMID:23504402 PMID:23555729 PMID:23638949 PMID:23705809 PMID:23718755 PMID:23770805 PMID:23838540 PMID:23918157 PMID:23958391 PMID:23965030 PMID:23967202 PMID:23980138 PMID:24007330 PMID:24033266 PMID:24051746 PMID:24105851 PMID:24224479 PMID:24248179 PMID:24338212 PMID:24341454 PMID:24599119 PMID:24612839 PMID:24860705 PMID:24875928 PMID:24913939 PMID:24989646 PMID:25149764 PMID:25262649 PMID:25266519 PMID:25290043 PMID:25372295 PMID:25373420 PMID:25394566 PMID:25468468 PMID:25491636 PMID:25525159 PMID:25572613 PMID:25741868 PMID:25761933 PMID:25788563 PMID:25910213 PMID:25991456 PMID:25999548 PMID:26022370 PMID:26035154 PMID:26100058 PMID:26188157 PMID:26226137 PMID:26252218 PMID:26346818 PMID:26445815 PMID:26467025 PMID:26485571 PMID:26683941 PMID:26744121 PMID:26752218 PMID:26763877 PMID:26764160 PMID:26886089 PMID:26894580 PMID:26969326 PMID:27214836 PMID:27246798 PMID:27344577 PMID:27541434 PMID:27573290 PMID:27771369 PMID:27861301 PMID:28000701 PMID:28273078 PMID:28444304 PMID:28492532 PMID:28576516 PMID:28604962 PMID:28786104 PMID:28964290 PMID:28984810 PMID:29048421 PMID:29196752 PMID:29293505 PMID:29372807 PMID:29546359 PMID:29739340 PMID:30068397 PMID:30077349 PMID:30086623 PMID:30139988 PMID:30240412 PMID:30245029 PMID:30484383 PMID:30622556 PMID:30693673 PMID:30760291 PMID:31599023, PMID:11317356, PMID:18167283, PMID:21965328, PMID:19509082 RGD:7421508, RGD:7411671, RGD:7411556, RGD:7411543 NCBI chr 6:50,809,103...50,848,443
Ensembl chr 6:50,808,923...50,846,965
JBrowse link
autosomal recessive nonsyndromic deafness 42 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ildr1 immunoglobulin-like domain containing receptor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 42
ClinVar Annotator: match by OMIM:609646
OMIM
ClinVar
PMID:15641023 PMID:21255762 PMID:24033266 PMID:25741868 NCBI chr11:67,004,042...67,037,115
Ensembl chr11:67,004,042...67,037,115
JBrowse link
autosomal recessive nonsyndromic deafness 44 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy1 adenylate cyclase 1 ISO ClinVar Annotator: match by OMIM:610154 OMIM
ClinVar
PMID:15583425 PMID:24482543 PMID:24824130 NCBI chr14:87,311,970...87,429,880
Ensembl chr14:87,312,203...87,421,659
JBrowse link
autosomal recessive nonsyndromic deafness 48 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cib2 calcium and integrin binding family member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 48
ClinVar Annotator: match by OMIM:609439
OMIM
CTD
ClinVar
PMID:23023331 PMID:25741868 PMID:26416264 NCBI chr 8:59,123,078...59,139,946
Ensembl chr 8:59,123,079...59,139,946
JBrowse link
autosomal recessive nonsyndromic deafness 49 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Marveld2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 49
ClinVar Annotator: match by term: Deafness, neurosensory, autosomal recessive 49
ClinVar Annotator: match by OMIM:610153
OMIM
ClinVar
PMID:17186462 PMID:18084694 PMID:23979167 PMID:24033266 PMID:25652404 PMID:25741868 PMID:25885414 PMID:26467025 PMID:28492532 NCBI chr 2:30,612,746...30,634,308
Ensembl chr 2:30,612,106...30,634,243
JBrowse link
autosomal recessive nonsyndromic deafness 53 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 53
ClinVar Annotator: match by OMIM:609706
OMIM
ClinVar
PMID:16033917 PMID:23967202 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 recessive nonsyndromic deafness 57 term browser
Symbol Object Name 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
OMIM
PMID:20440071 PMID:24033266 PMID:25741868 PMID:26416264 PMID:26849169 PMID:28492532 PMID:29048736 PMID:30622556 NCBI chr 1:264,776,393...264,796,206
Ensembl chr 1:264,776,398...264,794,938
JBrowse link
autosomal recessive nonsyndromic deafness 59 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pjvk pejvakin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 59
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:610220
OMIM
ClinVar
PMID:16804542 PMID:17301963 PMID:17329413 PMID:17373699 PMID:17718865 PMID:21935370 PMID:23804846 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:63,508,386...63,518,163
Ensembl chr 3:63,510,293...63,518,147
JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 59 ClinVar NCBI chr 3:63,489,081...63,507,918
Ensembl chr 3:63,489,074...63,507,926
JBrowse link
autosomal recessive nonsyndromic deafness 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmie transmembrane inner ear ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 6
ClinVar Annotator: match by OMIM:600971
OMIM
ClinVar
PMID:8593615 PMID:12145746 PMID:19438934 PMID:24033266 PMID:24875298 PMID:25741868 PMID:28492532 NCBI chr 8:119,142,116...119,157,071
Ensembl chr 8:119,142,434...119,157,071
JBrowse link
autosomal recessive nonsyndromic deafness 61 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a5 solute carrier family 26 member 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 61 OMIM
ClinVar
PMID:12719379 PMID:16086836 PMID:24033266 PMID:24164807 PMID:25262649 PMID:28492532 NCBI chr 4:9,795,811...9,860,904
Ensembl chr 4:9,821,541...9,860,571
JBrowse link
autosomal recessive nonsyndromic deafness 63 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:166,981,738...166,985,363
Ensembl chr 1:166,983,175...166,985,054
JBrowse link
G Lrtomt leucine rich transmembrane and O-methyltransferase domain containing ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63
ClinVar Annotator: match by OMIM:611451
OMIM
ClinVar
PMID:17211611 PMID:18794526 PMID:18953341 PMID:22908982 PMID:23053991 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:166,985,468...166,989,681
Ensembl chr 1:166,986,013...166,988,062
JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar NCBI chr 1:167,044,544...167,091,453
Ensembl chr 1:167,051,209...167,091,453
JBrowse link
autosomal recessive nonsyndromic deafness 66 term browser
Symbol Object Name 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
DNA:missense mutation:cds:p.Q424P (human)
ClinVar Annotator: match by OMIM:610212
OMIM
ClinVar
PMID:16244493 PMID:23677054 PMID:23746548 PMID:25601850 PMID:25741868 PMID:26467025 PMID:27469900 PMID:28440294 PMID:28461130 PMID:28461131 PMID:28492532, PMID:25601850 RGD:10412291 NCBI chr17:41,838,201...42,031,265
Ensembl chr17:41,838,201...42,031,265
JBrowse link
autosomal recessive nonsyndromic deafness 67 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhfpl5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 67
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:610265
OMIM
ClinVar
CTD
PMID:16459341 PMID:16752389 PMID:24033266 PMID:25741868 PMID:27148795 PMID:28492532 PMID:30177809 NCBI chr20:5,815,837...5,826,137
Ensembl chr20:5,815,837...5,826,137
JBrowse link
autosomal recessive nonsyndromic deafness 68 term browser
Symbol Object Name 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
OMIM
PMID:16703383 PMID:24824130 PMID:26805784 NCBI chr 8:21,984,914...21,995,806
Ensembl chr 8:21,984,914...21,995,806
JBrowse link
autosomal recessive nonsyndromic deafness 7 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 recessive 7
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11
ClinVar Annotator: match by OMIM:600974
OMIM
ClinVar
PMID:11850618 PMID:16134132 PMID:17877751 PMID:18381613 PMID:18414213 PMID:18616530 PMID:19187973 PMID:20373850 PMID:21250555 PMID:21252500 PMID:21917145 PMID:22607986 PMID:23208854 PMID:24033266 PMID:24416283 PMID:24875298 PMID:24949729 PMID:25491636 PMID:25741868 PMID:26467025 PMID:27068579 PMID:28492532 NCBI chr 1:238,336,919...238,525,792
Ensembl chr 1:238,336,919...238,441,500
JBrowse link
autosomal recessive nonsyndromic deafness 70 term browser
Symbol Object Name 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
ClinVar Annotator: match by OMIM:614934
OMIM
ClinVar
PMID:23084290 PMID:25741868 NCBI chr14:113,530,470...113,561,645
Ensembl chr14:113,530,470...113,561,645
JBrowse link
autosomal recessive nonsyndromic deafness 74 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msrb3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 74
ClinVar Annotator: match by OMIM:613718
OMIM
ClinVar
PMID:19650862 PMID:21185009 PMID:25741868 NCBI chr 7:62,850,506...62,972,487
Ensembl chr 7:62,850,515...62,972,084
JBrowse link
autosomal recessive nonsyndromic deafness 76 term browser
Symbol Object Name 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 OMIM
ClinVar
PMID:23348741 NCBI chr 1:88,772,729...88,777,044
Ensembl chr 1:88,772,904...88,776,999
Ensembl chr 1:88,772,904...88,776,999
JBrowse link
autosomal recessive nonsyndromic deafness 77 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 77 ClinVar PMID:15205219 PMID:21465660 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26602028 PMID:28492532 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Loxhd1 lipoxygenase homology domains 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 77
ClinVar Annotator: match by OMIM:613079
OMIM
ClinVar
PMID:16936105 PMID:19732867 PMID:21465660 PMID:22341973 PMID:22975204 PMID:23226338 PMID:23804846 PMID:23897863 PMID:24033266 PMID:25333069 PMID:25741868 PMID:25792669 PMID:25938503 PMID:26346818 PMID:26467025 PMID:26969326 PMID:27068579 PMID:27246798 PMID:27959697 PMID:27984600 PMID:28000701 PMID:28383030 PMID:28492532 PMID:29309402 PMID:29676012 PMID:30311386 NCBI chr18:73,645,365...73,812,271
Ensembl chr18:73,645,907...73,812,271
JBrowse link
autosomal recessive nonsyndromic deafness 79 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tprn taperin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 79
ClinVar Annotator: match by OMIM:613307
OMIM
ClinVar
PMID:20170898 PMID:20170899 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:2,480,232...2,487,710
Ensembl chr 3:2,480,232...2,487,710
JBrowse link
autosomal recessive nonsyndromic deafness 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 10
ClinVar Annotator: match by term: Deafness, autosomal recessive 8
ClinVar Annotator: match by term: Deafness, autosomal recessive 8/10
OMIM
ClinVar
PMID:11137999 PMID:11424922 PMID:11462234 PMID:11907649 PMID:12393794 PMID:12920079 PMID:15447792 PMID:16021470 PMID:16283880 PMID:16460646 PMID:16524950 PMID:17551081 PMID:19170735 PMID:21534946 PMID:21786053 PMID:22382023 PMID:22975204 PMID:23208854 PMID:23958653 PMID:23967202 PMID:24033266 PMID:24416283 PMID:24526180 PMID:24657061 PMID:25262649 PMID:25474651 PMID:25741868 PMID:25770132 PMID:26036852 PMID:26408194 PMID:26467025 PMID:26969326 PMID:28246597 PMID:28492532 PMID:28566687 PMID:28695016 PMID:29196752 NCBI chr20:9,910,522...9,929,705
Ensembl chr20:9,910,522...9,929,705
JBrowse link
autosomal recessive nonsyndromic deafness 84A 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 recessive 84
ClinVar Annotator: match by OMIM:613391
OMIM
ClinVar
PMID:20346435 PMID:25741868 NCBI chr 7:49,763,657...50,034,932
Ensembl chr 7:49,763,657...50,034,932
JBrowse link
autosomal recessive nonsyndromic deafness 84B term browser
Symbol Object Name 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 OMIM:614944
OMIM
ClinVar
PMID:23122586 PMID:24033266 PMID:25741868 NCBI chr 7:51,768,469...51,935,442
Ensembl chr 7:51,794,173...51,935,142
JBrowse link
autosomal recessive nonsyndromic deafness 86 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 86 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:29358611 NCBI chr10:13,594,687...13,619,935
Ensembl chr10:13,594,687...13,619,935
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 86
ClinVar Annotator: match by OMIM:614617
OMIM
ClinVar
PMID:22211675 PMID:22277662 PMID:24033266 PMID:24387994 PMID:24729539 PMID:24729547 PMID:24824130 PMID:24848745 PMID:25741868 PMID:25769375 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:29358611 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
autosomal recessive nonsyndromic deafness 88 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elmod3 ELMO domain containing 3 ISO ClinVar Annotator: match by OMIM:615429 OMIM
ClinVar
PMID:24039609 NCBI chr 4:100,422,256...100,465,152
Ensembl chr 4:100,422,252...100,465,112
JBrowse link
autosomal recessive nonsyndromic deafness 89 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kars lysyl-tRNA synthetase ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 89
ClinVar Annotator: match by term: Deafness autosomal recessive 89
OMIM
ClinVar
PMID:21181198 PMID:23768514 PMID:24033266 PMID:24824130 PMID:25356970 PMID:25741868 PMID:33260297 NCBI chr19:44,212,205...44,231,209
Ensembl chr19:44,212,206...44,231,157
JBrowse link
autosomal recessive nonsyndromic deafness 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igsf6 immunoglobulin superfamily, member 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 1:190,997,029...191,007,503
Ensembl chr 1:190,997,029...191,007,503
JBrowse link
G Mettl9 methyltransferase like 9 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 1:190,962,935...191,009,926
Ensembl chr 1:190,964,885...191,009,926
JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 1:191,029,861...191,097,524
Ensembl chr 1:191,029,861...191,097,290
JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9
ClinVar Annotator: match by OMIM:601071
DNA:duplication:cds:c.1981dupG (human)
DNA:missense mutation:cds:p.D1767G (mouse)
DNA:missense mutation:cds:p.R1939Q (human)
DNA:nonsense mutation:cds:p.Y730X (human)
DNA:nonsense mutation:cds:p.Q829X (human)
DNA:snp:intron:IVS8-2A>G (human)
DNA:missense mutation:cds:p.L1011P (human)
associated with Fever;DNA:missense mutation, deletion:p.R1157Q, c.5410_5412delGAG (human)
DNA:snps, deletion:cds:multiple (human)
OMIM
ClinVar
PMID:9657592 PMID:10192385 PMID:10878664 PMID:10903124 PMID:12114484 PMID:12127154 PMID:12525542 PMID:14635104 PMID:16097006 PMID:16226319 PMID:16283880 PMID:16371502 PMID:17512949 PMID:18381613 PMID:18804553 PMID:19250381 PMID:19461658 PMID:20146813 PMID:20224275 PMID:20230791 PMID:20301429 PMID:20504331 PMID:21557232 PMID:21935370 PMID:22575033 PMID:22607986 PMID:22906306 PMID:23208854 PMID:24033266 PMID:24053799 PMID:24746455 PMID:24814232 PMID:25262649 PMID:25741868 PMID:25991456 PMID:26186295 PMID:26434960 PMID:26467025 PMID:26763877 PMID:26818607 PMID:26969326 PMID:27018795 PMID:27068579 PMID:27082237 PMID:27177047 PMID:27621663 PMID:27729456 PMID:27766948 PMID:27821677 PMID:28492532 PMID:28766844 PMID:29048421 PMID:29362361 PMID:29752989 PMID:30096381 PMID:30245029 PMID:31095577, PMID:22906306, PMID:22575033, PMID:22575033, PMID:10192385, PMID:12114484, PMID:10903124, PMID:16097006, PMID:20230791, PMID:14635104 RGD:9585724, RGD:9491826, RGD:9491826, RGD:9479153, RGD:9479156, RGD:737640, RGD:9479157, RGD:9479161, RGD:9491386 NCBI chr 6:27,328,343...27,424,864
Ensembl chr 6:27,328,406...27,424,864
JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 PMID:27082237 NCBI chr10:46,511,271...46,571,591
Ensembl chr10:46,511,271...46,571,583
JBrowse link
G Tmc1 transmembrane channel-like 1 ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 ClinVar PMID:18381613 PMID:18616530 PMID:19187973 PMID:21917145 PMID:24033266 NCBI chr 1:238,336,919...238,525,792
Ensembl chr 1:238,336,919...238,441,500
JBrowse link
autosomal recessive nonsyndromic deafness 91 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinb6a serpin family B member 6A ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 91 ClinVar
OMIM
PMID:20451170 PMID:24033266 PMID:25741868 NCBI chr17:32,154,747...32,209,598
Ensembl chr17:32,190,801...32,209,590
JBrowse link
autosomal recessive nonsyndromic deafness 93 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cabp2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 93 OMIM
ClinVar
PMID:22981119 PMID:25741868 PMID:26445815 PMID:28492532 NCBI chr 1:219,329,186...219,335,046
Ensembl chr 1:219,329,574...219,335,043
JBrowse link
autosomal recessive nonsyndromic deafness 94 term browser
Symbol Object Name 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 OMIM
ClinVar
PMID:25741868 PMID:25807530 NCBI chr 1:161,922,132...162,035,817
Ensembl chr 1:161,922,141...162,034,700
JBrowse link
autosomal recessive nonsyndromic deafness 97 term browser
Symbol Object Name 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:25941349 NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
autosomal recessive nonsyndromic deafness 98 term browser
Symbol Object Name 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:27736875 NCBI chr20:11,501,510...11,529,210
Ensembl chr20:11,501,925...11,528,332
JBrowse link
autosomal recessive nonsyndromic deafness 99 term browser
Symbol Object Name 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 OMIM
ClinVar
PMID:12673573 PMID:25331638 PMID:31656313 NCBI chr10:69,735,534...69,794,975
Ensembl chr10:69,737,328...69,794,975
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    sensory system disease 5176
      auditory system disease 744
        inner ear disease 530
          sensorineural hearing loss 490
            autosomal recessive nonsyndromic deafness 102
              Autosomal Recessive Nonsyndromic Deafness 18 + 2
              autosomal recessive nonsyndromic deafness 100 1
              autosomal recessive nonsyndromic deafness 101 1
              autosomal recessive nonsyndromic deafness 102 1
              autosomal recessive nonsyndromic deafness 103 1
              autosomal recessive nonsyndromic deafness 104 1
              autosomal recessive nonsyndromic deafness 106 2
              autosomal recessive nonsyndromic deafness 107 1
              autosomal recessive nonsyndromic deafness 108 1
              autosomal recessive nonsyndromic deafness 109 1
              autosomal recessive nonsyndromic deafness 110 1
              autosomal recessive nonsyndromic deafness 111 1
              autosomal recessive nonsyndromic deafness 112 1
              autosomal recessive nonsyndromic deafness 113 1
              autosomal recessive nonsyndromic deafness 114 1
              autosomal recessive nonsyndromic deafness 115 1
              autosomal recessive nonsyndromic deafness 116 1
              autosomal recessive nonsyndromic deafness 12 5
              autosomal recessive nonsyndromic deafness 13 0
              autosomal recessive nonsyndromic deafness 14 0
              autosomal recessive nonsyndromic deafness 15 1
              autosomal recessive nonsyndromic deafness 16 3
              autosomal recessive nonsyndromic deafness 17 0
              autosomal recessive nonsyndromic deafness 18A 1
              autosomal recessive nonsyndromic deafness 18B 1
              autosomal recessive nonsyndromic deafness 1A 10
              autosomal recessive nonsyndromic deafness 1B 2
              autosomal recessive nonsyndromic deafness 2 2
              autosomal recessive nonsyndromic deafness 20 0
              autosomal recessive nonsyndromic deafness 21 1
              autosomal recessive nonsyndromic deafness 22 1
              autosomal recessive nonsyndromic deafness 23 1
              autosomal recessive nonsyndromic deafness 24 1
              autosomal recessive nonsyndromic deafness 25 1
              autosomal recessive nonsyndromic deafness 26 1
              autosomal recessive nonsyndromic deafness 27 0
              autosomal recessive nonsyndromic deafness 28 2
              autosomal recessive nonsyndromic deafness 29 1
              autosomal recessive nonsyndromic deafness 3 1
              autosomal recessive nonsyndromic deafness 30 1
              autosomal recessive nonsyndromic deafness 31 1
              autosomal recessive nonsyndromic deafness 32 1
              autosomal recessive nonsyndromic deafness 33 0
              autosomal recessive nonsyndromic deafness 35 1
              autosomal recessive nonsyndromic deafness 36 1
              autosomal recessive nonsyndromic deafness 37 1
              autosomal recessive nonsyndromic deafness 38 0
              autosomal recessive nonsyndromic deafness 39 1
              autosomal recessive nonsyndromic deafness 4 4
              autosomal recessive nonsyndromic deafness 40 0
              autosomal recessive nonsyndromic deafness 42 1
              autosomal recessive nonsyndromic deafness 44 1
              autosomal recessive nonsyndromic deafness 45 0
              autosomal recessive nonsyndromic deafness 46 0
              autosomal recessive nonsyndromic deafness 47 0
              autosomal recessive nonsyndromic deafness 48 1
              autosomal recessive nonsyndromic deafness 49 1
              autosomal recessive nonsyndromic deafness 5 0
              autosomal recessive nonsyndromic deafness 51 0
              autosomal recessive nonsyndromic deafness 53 1
              autosomal recessive nonsyndromic deafness 55 0
              autosomal recessive nonsyndromic deafness 57 1
              autosomal recessive nonsyndromic deafness 59 2
              autosomal recessive nonsyndromic deafness 6 1
              autosomal recessive nonsyndromic deafness 61 1
              autosomal recessive nonsyndromic deafness 62 0
              autosomal recessive nonsyndromic deafness 63 3
              autosomal recessive nonsyndromic deafness 65 0
              autosomal recessive nonsyndromic deafness 66 1
              autosomal recessive nonsyndromic deafness 67 1
              autosomal recessive nonsyndromic deafness 68 1
              autosomal recessive nonsyndromic deafness 7 1
              autosomal recessive nonsyndromic deafness 70 1
              autosomal recessive nonsyndromic deafness 71 0
              autosomal recessive nonsyndromic deafness 74 1
              autosomal recessive nonsyndromic deafness 76 1
              autosomal recessive nonsyndromic deafness 77 2
              autosomal recessive nonsyndromic deafness 79 1
              autosomal recessive nonsyndromic deafness 8 1
              autosomal recessive nonsyndromic deafness 83 0
              autosomal recessive nonsyndromic deafness 84A 1
              autosomal recessive nonsyndromic deafness 84B 1
              autosomal recessive nonsyndromic deafness 85 0
              autosomal recessive nonsyndromic deafness 86 2
              autosomal recessive nonsyndromic deafness 88 1
              autosomal recessive nonsyndromic deafness 89 1
              autosomal recessive nonsyndromic deafness 9 6
              autosomal recessive nonsyndromic deafness 91 1
              autosomal recessive nonsyndromic deafness 93 1
              autosomal recessive nonsyndromic deafness 94 1
              autosomal recessive nonsyndromic deafness 96 0
              autosomal recessive nonsyndromic deafness 97 1
              autosomal recessive nonsyndromic deafness 98 1
              autosomal recessive nonsyndromic deafness 99 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          Otorhinolaryngologic Diseases 1158
            auditory system disease 744
              Hearing Disorders 604
                Hearing Loss 600
                  Deafness 277
                    nonsyndromic deafness 167
                      autosomal recessive nonsyndromic deafness 102
                        Autosomal Recessive Nonsyndromic Deafness 18 + 2
                        autosomal recessive nonsyndromic deafness 100 1
                        autosomal recessive nonsyndromic deafness 101 1
                        autosomal recessive nonsyndromic deafness 102 1
                        autosomal recessive nonsyndromic deafness 103 1
                        autosomal recessive nonsyndromic deafness 104 1
                        autosomal recessive nonsyndromic deafness 106 2
                        autosomal recessive nonsyndromic deafness 107 1
                        autosomal recessive nonsyndromic deafness 108 1
                        autosomal recessive nonsyndromic deafness 109 1
                        autosomal recessive nonsyndromic deafness 110 1
                        autosomal recessive nonsyndromic deafness 111 1
                        autosomal recessive nonsyndromic deafness 112 1
                        autosomal recessive nonsyndromic deafness 113 1
                        autosomal recessive nonsyndromic deafness 114 1
                        autosomal recessive nonsyndromic deafness 115 1
                        autosomal recessive nonsyndromic deafness 116 1
                        autosomal recessive nonsyndromic deafness 12 5
                        autosomal recessive nonsyndromic deafness 13 0
                        autosomal recessive nonsyndromic deafness 14 0
                        autosomal recessive nonsyndromic deafness 15 1
                        autosomal recessive nonsyndromic deafness 16 3
                        autosomal recessive nonsyndromic deafness 17 0
                        autosomal recessive nonsyndromic deafness 18A 1
                        autosomal recessive nonsyndromic deafness 18B 1
                        autosomal recessive nonsyndromic deafness 1A 10
                        autosomal recessive nonsyndromic deafness 1B 2
                        autosomal recessive nonsyndromic deafness 2 2
                        autosomal recessive nonsyndromic deafness 20 0
                        autosomal recessive nonsyndromic deafness 21 1
                        autosomal recessive nonsyndromic deafness 22 1
                        autosomal recessive nonsyndromic deafness 23 1
                        autosomal recessive nonsyndromic deafness 24 1
                        autosomal recessive nonsyndromic deafness 25 1
                        autosomal recessive nonsyndromic deafness 26 1
                        autosomal recessive nonsyndromic deafness 27 0
                        autosomal recessive nonsyndromic deafness 28 2
                        autosomal recessive nonsyndromic deafness 29 1
                        autosomal recessive nonsyndromic deafness 3 1
                        autosomal recessive nonsyndromic deafness 30 1
                        autosomal recessive nonsyndromic deafness 31 1
                        autosomal recessive nonsyndromic deafness 32 1
                        autosomal recessive nonsyndromic deafness 33 0
                        autosomal recessive nonsyndromic deafness 35 1
                        autosomal recessive nonsyndromic deafness 36 1
                        autosomal recessive nonsyndromic deafness 37 1
                        autosomal recessive nonsyndromic deafness 38 0
                        autosomal recessive nonsyndromic deafness 39 1
                        autosomal recessive nonsyndromic deafness 4 4
                        autosomal recessive nonsyndromic deafness 40 0
                        autosomal recessive nonsyndromic deafness 42 1
                        autosomal recessive nonsyndromic deafness 44 1
                        autosomal recessive nonsyndromic deafness 45 0
                        autosomal recessive nonsyndromic deafness 46 0
                        autosomal recessive nonsyndromic deafness 47 0
                        autosomal recessive nonsyndromic deafness 48 1
                        autosomal recessive nonsyndromic deafness 49 1
                        autosomal recessive nonsyndromic deafness 5 0
                        autosomal recessive nonsyndromic deafness 51 0
                        autosomal recessive nonsyndromic deafness 53 1
                        autosomal recessive nonsyndromic deafness 55 0
                        autosomal recessive nonsyndromic deafness 57 1
                        autosomal recessive nonsyndromic deafness 59 2
                        autosomal recessive nonsyndromic deafness 6 1
                        autosomal recessive nonsyndromic deafness 61 1
                        autosomal recessive nonsyndromic deafness 62 0
                        autosomal recessive nonsyndromic deafness 63 3
                        autosomal recessive nonsyndromic deafness 65 0
                        autosomal recessive nonsyndromic deafness 66 1
                        autosomal recessive nonsyndromic deafness 67 1
                        autosomal recessive nonsyndromic deafness 68 1
                        autosomal recessive nonsyndromic deafness 7 1
                        autosomal recessive nonsyndromic deafness 70 1
                        autosomal recessive nonsyndromic deafness 71 0
                        autosomal recessive nonsyndromic deafness 74 1
                        autosomal recessive nonsyndromic deafness 76 1
                        autosomal recessive nonsyndromic deafness 77 2
                        autosomal recessive nonsyndromic deafness 79 1
                        autosomal recessive nonsyndromic deafness 8 1
                        autosomal recessive nonsyndromic deafness 83 0
                        autosomal recessive nonsyndromic deafness 84A 1
                        autosomal recessive nonsyndromic deafness 84B 1
                        autosomal recessive nonsyndromic deafness 85 0
                        autosomal recessive nonsyndromic deafness 86 2
                        autosomal recessive nonsyndromic deafness 88 1
                        autosomal recessive nonsyndromic deafness 89 1
                        autosomal recessive nonsyndromic deafness 9 6
                        autosomal recessive nonsyndromic deafness 91 1
                        autosomal recessive nonsyndromic deafness 93 1
                        autosomal recessive nonsyndromic deafness 94 1
                        autosomal recessive nonsyndromic deafness 96 0
                        autosomal recessive nonsyndromic deafness 97 1
                        autosomal recessive nonsyndromic deafness 98 1
                        autosomal recessive nonsyndromic deafness 99 1
paths to the root