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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.


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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 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 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 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: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: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:30311386, 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: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 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:1511312, PMID:1693158, PMID:2706105, PMID:2956987, 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: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: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: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:30989077, PMID:31160754, PMID:31195736, PMID:31370293, PMID:31569309, PMID:31620696, PMID:31992338 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:30989077, PMID:31160754 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: Deafness, autosomal recessive 2
ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2
ClinVar Annotator: match by OMIM:600060
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:3130723, PMID:7568224, PMID:7870171, PMID:7951250, PMID:8776602, PMID:8900236, PMID:9002678, PMID:9171832, PMID:9171833, PMID:9259201, PMID:9354784, PMID:9382091, PMID:9718356, PMID:10094549, PMID:10425080, PMID:10447383, 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:21150918, PMID:21174530, 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
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:9150164, PMID:9590290, PMID:9949200, PMID:12746400, PMID:17431902, PMID:17661817, PMID:18022253, PMID:18797289, 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:8643598, PMID:22495306, PMID:23033978, PMID:24038936, PMID:25363760, PMID:25533962, PMID:25741868, PMID:26721934, PMID:27418539, PMID:28928363, 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:7616538, PMID:7704031, PMID:9603736, PMID:10552926, PMID:11735029, PMID:17546645, PMID:17853461, PMID:18804553, 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:24123792, PMID:24130743, PMID:24498627, PMID:24875298, PMID:25262649, PMID:25741868, PMID:25792667, PMID:26226137, PMID:26242193, PMID:26399936, PMID:26445815, PMID:26467025, PMID:26633542, 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 OMIM 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: 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 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: Dilated vestibular aqueduct ClinVar PMID:15205219, 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: 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:11748854, 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:16711435, PMID:16773579, PMID:16924389, PMID:16950989, PMID:17309986, PMID:17322586, PMID:17357124, PMID:17443271, PMID:17503324, PMID:17718863, PMID:17766716, PMID:17851929, PMID:17876604, PMID:17940114, PMID:18167283, PMID:18274916, PMID:18283249, PMID:18285825, PMID:18310264, PMID:18322141, PMID:18381613, PMID:18585793, PMID:18641518, PMID:18813951, PMID:19017801, PMID:19040761, PMID:19169484, PMID:19204907, PMID:19287372, PMID:19426954, PMID:19509082, PMID:19565036, PMID:19578036, PMID:19608655, PMID:19615760, PMID:19620588, PMID:19786220, PMID:19787632, PMID:20128824, PMID:20301640, PMID:20553101, PMID:20583162, PMID:20597900, PMID:20621367, PMID:20668687, PMID:20826203, PMID:20842945, PMID:21045265, PMID:21154317, PMID:21366435, PMID:21551164, PMID:21704276, PMID:21811566, PMID:21961810, PMID:22116358, PMID:22116360, PMID:22285650, PMID:22384008, PMID:22717225, PMID:22884721, PMID:22903915, PMID:22975760, PMID:23151025, PMID:23185506, PMID:23208854, PMID:23273637, PMID:23336812, PMID:23385134, PMID:23504402, PMID:23555729, PMID:23638949, PMID:23705809, PMID:23718755, PMID:23770805, PMID:23918157, PMID:23958391, PMID:23965030, PMID:24007330, PMID:24033266, PMID:24051746, PMID:24105851, PMID:24224479, PMID:24338212, PMID:24599119, PMID:24860705, PMID:24875928, PMID:25262649, PMID:25266519, PMID:25290043, PMID:25372295, PMID:25373420, PMID:25394566, PMID:25468468, PMID:25491636, PMID:25741868, PMID:25788563, PMID:25910213, PMID:25991456, PMID:25999548, PMID:26022370, PMID:26100058, PMID:26226137, PMID:26252218, PMID:26346818, PMID:26445815, PMID:26485571, PMID:26683941, PMID:26744121, PMID:26752218, PMID:26763877, PMID:26969326, PMID:27344577, PMID:27541434, PMID:27771369, PMID:28000701, PMID:28273078, PMID:28444304, PMID:28492532, PMID:28576516, PMID:28604962, PMID:28964290, PMID:28984810, PMID:29048421, PMID:29196752, PMID:29293505, PMID:29372807, PMID:29546359, PMID:29739340, PMID:30068397, PMID:30077349, PMID:30139988, PMID:30240412, PMID:30245029, PMID:30311386, 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:18414213, PMID:18616530, PMID:19187973, PMID:20373850, PMID:21250555, PMID:21252500, PMID:21917145, PMID:22607986, PMID:23208854, PMID:24033266, PMID:24416283, PMID:24949729, PMID:25491636, 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 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 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 8
ClinVar Annotator: match by term: Deafness, autosomal recessive 10
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:16524950, PMID:17551081, PMID:17981648, 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:28263784, PMID:28492532, PMID:28566687, PMID:28695016, PMID:29196752, PMID:30311386 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 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 Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 ClinVar PMID:10700480, PMID:11932316, PMID:14508505, PMID:16570074, PMID:16950989, PMID:18381613, PMID:24033266, PMID:25262649, PMID:26969326, PMID:27771369, PMID:30245029, PMID:31599023 NCBI chr 6:50,809,103...50,848,443
Ensembl chr 6:50,808,923...50,846,965
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: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 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 16103
    sensory system disease 5162
      auditory system disease 754
        inner ear disease 525
          sensorineural hearing loss 487
            autosomal recessive nonsyndromic deafness 100
              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 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 1
              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 1
              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 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          Otorhinolaryngologic Diseases 1185
            auditory system disease 754
              Hearing Disorders 613
                Hearing Loss 608
                  Deafness 268
                    nonsyndromic deafness 166
                      autosomal recessive nonsyndromic deafness 100
                        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 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 1
                        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 1
                        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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.