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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 Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688
JBrowse link
G Ankrd36 ankyrin repeat domain 36 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr14:80,451,699...80,568,458 JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISS OMIM:607197 MouseDO NCBI chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475
JBrowse link
G Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr 5:121,251,774...121,260,571
Ensembl chr 5:121,251,774...121,260,571
JBrowse link
G Cabp2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:22981119 PMID:25741868 PMID:26445815 PMID:28492532 PMID:30303587 NCBI chr 1:201,374,649...201,380,469
Ensembl chr 1:201,375,276...201,380,469
JBrowse link
G Cdh23 cadherin-related 23 ISO DNA:missense mutations:multiple
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar
RGD
PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:15353998 More... RGD:8662281 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:23023331 PMID:30303587 NCBI chr 8:54,930,265...54,947,157 JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148
JBrowse link
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:11163249 PMID:15880785 PMID:22246673 PMID:30303587 NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171
JBrowse link
G Clic5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr 9:16,710,980...16,813,427
Ensembl chr 9:16,710,980...16,813,427
JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
JBrowse link
G Eps8 epidermal growth factor receptor pathway substrate 8 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr 4:170,388,378...170,486,873
Ensembl chr 4:170,388,378...170,486,873
JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr 5:162,626,560...162,660,439
Ensembl chr 5:162,626,560...162,660,256
JBrowse link
G Esrrb estrogen-related receptor beta ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:23967202 PMID:24033266 PMID:30303587 NCBI chr 6:106,007,662...106,163,136
Ensembl chr 6:106,008,095...106,160,791
JBrowse link
G Gipc3 GIPC PDZ domain containing family, member 3 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr 7:8,374,941...8,383,281 JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:1511312 PMID:2104787 PMID:2706105 PMID:8789457 PMID:9139825 More... NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
JBrowse link
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by null ClinVar PMID:10587579 NCBI chr 5:139,649,227...139,655,083
Ensembl chr 5:139,649,195...139,654,980
JBrowse link
G Gpsm2 G-protein signaling modulator 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:20602914 PMID:22578326 PMID:30303587 PMID:32747562 NCBI chr 2:196,327,149...196,375,322
Ensembl chr 2:196,327,149...196,375,154
JBrowse link
G Grxcr1 glutaredoxin and cysteine rich domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:20137778 PMID:30303587 NCBI chr14:40,004,169...40,126,571
Ensembl chr14:40,004,169...40,126,571
JBrowse link
G Grxcr2 glutaredoxin and cysteine rich domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr18:33,984,689...33,998,094
Ensembl chr18:33,984,689...33,998,094
JBrowse link
G Ildr1 immunoglobulin-like domain containing receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:15641023 PMID:21255762 PMID:30303587 NCBI chr11:64,085,774...64,118,760
Ensembl chr11:64,008,566...64,118,760
JBrowse link
G Lhfpl5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:16459341 PMID:30303587 NCBI chr20:6,632,362...6,642,534
Ensembl chr20:6,632,362...6,642,532
JBrowse link
G LOC100361018 rCG22048-like ISO ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar PMID:11090341 PMID:11138009 PMID:16679490 PMID:21940737 PMID:28492532 More... NCBI chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487
JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:16199547 PMID:19732867 PMID:21465660 PMID:25741868 PMID:25792669 More... NCBI chr18:70,818,276...70,969,983
Ensembl chr18:70,818,276...70,969,983
JBrowse link
G Marveld2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr 2:31,742,652...31,764,150 JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:19650862 PMID:21185009 PMID:30303587 NCBI chr 7:56,260,985...56,426,004
Ensembl chr 7:56,303,308...56,425,496
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 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar PMID:8900236 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10930322 More... NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar PMID:23173898 PMID:24033266 PMID:30303587 NCBI chr 1:175,642,978...175,710,528
Ensembl chr 1:175,642,975...175,710,435
JBrowse link
G Otof otoferlin ISO DNA:missense mutation:cds:p.I318N (mouse)
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar
RGD
PMID:14635104 PMID:19250381 PMID:24033266 PMID:27082237 PMID:30303587 More... RGD:9479154 NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631
JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr 1:96,746,336...96,815,416
Ensembl chr 1:96,746,336...96,815,415
JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719
JBrowse link
G Pjvk pejvakin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:30303587 PMID:32747562 NCBI chr 3:61,594,644...61,605,051
Ensembl chr 3:61,596,641...61,605,045
JBrowse link
G Pou4f3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr18:34,390,205...34,392,797
Ensembl chr18:34,390,205...34,392,797
JBrowse link
G Ptprq protein tyrosine phosphatase, receptor type, Q ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr 7:42,837,109...43,016,917
Ensembl chr 7:42,837,109...43,016,917
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 Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:9398842 PMID:9536098 PMID:9618166 PMID:9618167 PMID:10700480 More... NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703
JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
JBrowse link
G Tmc1 transmembrane channel-like 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:11850618 PMID:16134132 PMID:17877751 PMID:18414213 PMID:19187973 More... NCBI chr 1:218,275,262...218,445,955
Ensembl chr 1:218,276,417...218,445,955
JBrowse link
G Tmie transmembrane inner ear ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:30303587 More... NCBI chr 8:110,849,713...110,864,803
Ensembl chr 8:110,850,034...110,864,803
JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:11137999 PMID:24033266 PMID:30303587 PMID:30311386 NCBI chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363
JBrowse link
G Tprn taperin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:20170899 PMID:30303587 NCBI chr 3:8,076,164...8,083,642
Ensembl chr 3:8,075,137...8,083,642
JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 7:110,505,916...110,569,301
Ensembl chr 7:110,506,248...110,562,474
JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 More... NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671
JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:25741868 PMID:30303587 NCBI chr10:100,559,721...100,563,590
Ensembl chr10:100,557,629...100,563,590
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:28492532 More... NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223
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 9:98,315,280...98,394,537
Ensembl chr 9:98,315,252...98,390,814
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 PMID:25741868 NCBI chr18:33,984,689...33,998,094
Ensembl chr18:33,984,689...33,998,094
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 PMID:28492532 NCBI chr 4:170,388,378...170,486,873
Ensembl chr 4:170,388,378...170,486,873
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 9:16,710,980...16,813,427
Ensembl chr 9:16,710,980...16,813,427
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:24033266 PMID:24958875 PMID:25741868 NCBI chr17:40,323,867...40,547,482
Ensembl chr17:40,323,867...40,548,092
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 4:170,388,378...170,486,873
Ensembl chr 4:170,388,378...170,486,873
JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 106
ClinVar Annotator: match by term: Deafness, autosomal recessive 106
ClinVar
OMIM
PMID:25741868 PMID:26282398 PMID:28281779 NCBI chr 1:196,446,067...196,471,542
Ensembl chr 1:196,446,287...196,471,541
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 Annotator: match by term: Deafness, autosomal recessive 107
ClinVar
OMIM
PMID:25741868 PMID:26881968 NCBI chr10:101,312,476...101,320,775
Ensembl chr10:101,312,446...101,320,736
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 Annotator: match by term: Deafness, autosomal recessive 108
ClinVar
OMIM
PMID:25741868 PMID:27162350 NCBI chr 5:114,744,311...115,088,155
Ensembl chr 5:114,744,304...115,088,155
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 Annotator: match by term: Deafness, autosomal recessive 109
ClinVar
OMIM
PMID:25741868 PMID:29107558 NCBI chr 5:24,427,611...24,482,157
Ensembl chr 5:24,428,717...24,482,062
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
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 110
OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:29449721 PMID:31042466 NCBI chr 6:69,031,139...69,045,124
Ensembl chr 6:69,031,167...69,045,109
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 Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 111
OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29961571 PMID:29982980 PMID:30311386 NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298
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 Annotator: match by term: Deafness, autosomal recessive 112
ClinVar
OMIM
PMID:24312468 PMID:25741868 NCBI chr 2:31,457,523...31,470,119
Ensembl chr 2:31,378,924...31,470,119
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 1:79,514,975...79,524,871
Ensembl chr 1:79,514,975...79,524,871
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 chr10:46,298,965...46,352,057
Ensembl chr10:46,332,909...46,352,056
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 chr10:57,067,348...57,105,969
Ensembl chr10:57,066,897...57,105,957
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 chr10:12,714,137...12,715,568 JBrowse link
Autosomal Recessive Nonsyndromic Deafness 117 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn2 clarin 2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 117 OMIM
ClinVar
PMID:33496845 NCBI chr14:65,656,550...65,666,193
Ensembl chr14:65,656,550...65,666,193
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 4:146,896,332...147,140,665
Ensembl chr 4:146,896,332...147,140,665
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:9536098 PMID:11090341 PMID:11138009 More... NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
JBrowse link
G LOC100361018 rCG22048-like ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487
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 chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
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 ClinVar Annotator: match by term: Deafness, autosomal recessive 15
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:601869
OMIM
ClinVar
CTD
PMID:9286457 PMID:17690910 PMID:21326233 PMID:21660509 PMID:24033266 More... NCBI chr 7:8,374,941...8,383,281 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 3:108,368,654...108,389,380
Ensembl chr 3:108,368,668...108,388,050
JBrowse link
G Ckmt1 creatine kinase, mitochondrial 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr 3:108,329,859...108,335,760
Ensembl chr 3:108,330,705...108,335,758
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 More... NCBI chr 3:108,335,920...108,355,114
Ensembl chr 3:108,335,747...108,354,134
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 More... NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671
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
RGD
PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 More... RGD:8694458 NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671
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 More... NCBI chr 1:96,746,336...96,815,416
Ensembl chr 1:96,746,336...96,815,415
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 chr15:31,427,011...31,545,997
Ensembl chr15:31,427,054...31,545,997
JBrowse link
G Eef1akmt1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:31,694,289...31,711,959
Ensembl chr15:31,694,292...31,711,336
JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:31,181,360...31,206,808
Ensembl chr15:31,181,369...31,206,810
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 term: Autosomal recessive deafness type 1A
ClinVar Annotator: match by OMIM:220290
OMIM
ClinVar
PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 PMID:2706105 More... NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
JBrowse link
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
OMIM
ClinVar
PMID:19050930 PMID:25741868 PMID:28492532 NCBI chr 5:139,649,227...139,655,083
Ensembl chr 5:139,649,195...139,654,980
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 5:139,675,776...139,679,551
Ensembl chr 5:139,675,780...139,679,667
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:11896458 PMID:12172394 More... NCBI chr15:31,284,562...31,295,010
Ensembl chr15:31,284,419...31,294,582
JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147
JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:31,665,795...31,688,840 JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:31,716,762...31,807,908
Ensembl chr15:31,716,762...31,807,908
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 More... NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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 More... NCBI chr15:31,284,562...31,295,010
Ensembl chr15:31,284,419...31,294,582
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:8900236 More... NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
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:11087000 PMID:12746400 PMID:17431902 PMID:17661817 More... NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
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 More... NCBI chr 1:175,642,978...175,710,528
Ensembl chr 1:175,642,975...175,710,435
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 More... NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719
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 More... NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678
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 More... NCBI chr14:40,004,169...40,126,571
Ensembl chr14:40,004,169...40,126,571
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 chr19:27,131,262...27,239,236
Ensembl chr19:27,131,262...27,239,236
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 2:78,505,069...78,801,384
Ensembl chr 2:78,505,070...78,803,135
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 More... NCBI chr 7:110,505,916...110,569,301
Ensembl chr 7:110,506,248...110,562,474
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:23235333 PMID:23590985 More... NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171
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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:600316
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:2574186 PMID:7616538 PMID:7704031 PMID:9603736 PMID:10552926 More... NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3 ClinVar NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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 More... NCBI chr17:84,554,785...84,604,748
Ensembl chr17:84,543,552...84,759,042
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:9536098 PMID:11973626 PMID:12833159 PMID:15841483 PMID:17576681 More... NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223
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 2:204,225,540...204,380,927
Ensembl chr 2:204,225,540...204,380,927
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 More... NCBI chr 6:106,007,662...106,163,136
Ensembl chr 6:106,008,095...106,160,791
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 More... NCBI chr 5:162,626,560...162,660,439
Ensembl chr 5:162,626,560...162,660,256
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 More... NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292
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
RGD
PMID:18564920 PMID:19576567 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:8548545 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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 More... NCBI chr10:18,806,292...18,810,231
Ensembl chr10:18,806,308...18,810,231
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: KCNJ10-Related Disorders
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness 4
ClinVar Annotator: match by term: Dilated vestibular aqueduct
OMIM
ClinVar
PMID:19289823 PMID:19426954 PMID:20651251 PMID:20678478 PMID:20807765 More... NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4
ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic 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
RGD
PMID:2422447 PMID:8285825 PMID:8541853 PMID:9070918 PMID:9398842 More... RGD:7421508, RGD:7411671, RGD:7411556, RGD:7411543 NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703
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 PMID:30303587 NCBI chr11:64,085,774...64,118,760
Ensembl chr11:64,008,566...64,118,760
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 term: Deafness, autosomal recessive 44
ClinVar Annotator: match by OMIM:610154
OMIM
ClinVar
PMID:15583425 PMID:24033266 PMID:24482543 PMID:24824130 PMID:25741868 NCBI chr14:81,911,240...82,020,594
Ensembl chr14:81,911,099...82,028,969
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 ClinVar Annotator: match by term: Deafness, autosomal recessive 48
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:609439
OMIM
ClinVar
CTD
PMID:23023331 PMID:24033266 PMID:25741868 PMID:26416264 PMID:26426422 More... NCBI chr 8:54,930,265...54,947,157 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 More... NCBI chr 2:31,742,652...31,764,150 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 OMIM
ClinVar
PMID:16033917 PMID:23967202 PMID:24033266 PMID:25633957 PMID:25741868 More... NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
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 Annotator: match by term: Deafness, autosomal recessive 57
ClinVar
OMIM
PMID:20440071 PMID:24033266 PMID:25741868 PMID:26416264 PMID:26849169 More... NCBI chr 1:243,888,295...243,907,778
Ensembl chr 1:243,888,281...243,906,839
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 More... NCBI chr 3:61,594,644...61,605,051
Ensembl chr 3:61,596,641...61,605,045
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 3:61,575,447...61,594,393
Ensembl chr 3:61,575,447...61,594,347
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 More... NCBI chr 8:110,849,713...110,864,803
Ensembl chr 8:110,850,034...110,864,803
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 More... NCBI chr 4:13,210,260...13,249,289
Ensembl chr 4:13,210,260...13,249,289
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 1:156,238,640...156,266,005
Ensembl chr 1:156,262,841...156,268,145
JBrowse link
G Lrrc51 leucine rich repeat containing 51 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar PMID:24033266 PMID:25741868 NCBI chr 1:156,278,617...156,297,838
Ensembl chr 1:156,278,618...156,297,773
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 More... NCBI chr 1:156,266,655...156,268,704
Ensembl chr 1:156,266,655...156,268,704
JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar NCBI chr 1:156,297,907...156,372,855
Ensembl chr 1:156,326,259...156,372,855
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
RGD
PMID:16244493 PMID:23677054 PMID:23746548 PMID:25557784 PMID:25601850 More... RGD:10412291 NCBI chr17:39,845,952...40,031,781
Ensembl chr17:39,845,952...40,030,743
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 More... NCBI chr20:6,632,362...6,642,534
Ensembl chr20:6,632,362...6,642,532
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 8:19,503,276...19,514,169
Ensembl chr 8:19,502,627...19,523,574
JBrowse link
autosomal recessive nonsyndromic deafness 7 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 11 ClinVar PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 More... NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
JBrowse link
G Tmc1 transmembrane channel-like 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11
ClinVar Annotator: match by term: Deafness, autosomal recessive 7
ClinVar Annotator: match by OMIM:600974
OMIM
ClinVar
PMID:11850618 PMID:16134132 PMID:17877751 PMID:18414213 PMID:18616530 More... NCBI chr 1:218,275,262...218,445,955
Ensembl chr 1:218,276,417...218,445,955
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 PMID:26467025 PMID:28492532 NCBI chr14:102,877,553...102,908,696
Ensembl chr14:102,877,553...102,908,696
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 PMID:30303587 NCBI chr 7:56,260,985...56,426,004
Ensembl chr 7:56,303,308...56,425,496
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 1:85,569,409...85,573,775
Ensembl chr 1:85,569,545...85,573,760
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 PLAT domains 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 77
ClinVar Annotator: match by term: Autosomal recessive deafness type 77
ClinVar Annotator: match by OMIM:613079
OMIM
ClinVar
PMID:16199547 PMID:16936105 PMID:19732867 PMID:21465660 PMID:22341973 More... NCBI chr18:70,818,276...70,969,983
Ensembl chr18:70,818,276...70,969,983
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 More... NCBI chr 3:8,076,164...8,083,642
Ensembl chr 3:8,075,137...8,083,642
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 More... NCBI chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363
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 7:42,837,109...43,016,917
Ensembl chr 7:42,837,109...43,016,917
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 7:43,065,800...43,211,400
Ensembl chr 7:43,067,644...43,223,592
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 More... NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101
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 More... NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
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 4:104,614,665...104,653,122
Ensembl chr 4:104,614,676...104,653,053
JBrowse link
autosomal recessive nonsyndromic deafness 89 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 89
ClinVar Annotator: match by term: Deafness autosomal recessive 89
OMIM
ClinVar
PMID:21181198 PMID:21427441 PMID:23768514 PMID:24033266 PMID:24824130 More... NCBI chr19:39,957,846...39,976,886
Ensembl chr19:39,957,846...39,977,632
JBrowse link
autosomal recessive nonsyndromic deafness 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1 ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 ClinVar PMID:18381613 PMID:25741868 PMID:28492532 NCBI chr16:68,876,294...69,054,812
Ensembl chr16:68,877,504...69,054,759
JBrowse link
G Igsf6 immunoglobulin superfamily, member 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 1:175,610,167...175,620,662
Ensembl chr 1:175,610,167...175,620,722
JBrowse link
G Mettl9 methyltransferase like 9 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 1:175,575,805...175,623,065
Ensembl chr 1:175,577,890...175,623,061
JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 1:175,642,978...175,710,528
Ensembl chr 1:175,642,975...175,710,435
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
RGD
PMID:9657592 PMID:10192385 PMID:10878664 PMID:10903124 PMID:12114484 More... RGD:9585724, RGD:9491826, RGD:9491826, RGD:9479153, RGD:9479156, RGD:737640, RGD:9479157, RGD:9479161, RGD:9491386 NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631
JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 PMID:27082237 NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232
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 PMID:26467025 NCBI chr17:30,871,428...30,989,703
Ensembl chr17:30,871,468...31,014,427
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:24033266 PMID:25741868 PMID:26445815 PMID:28492532 More... NCBI chr 1:201,374,649...201,380,469
Ensembl chr 1:201,375,276...201,380,469
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 1:151,300,446...151,412,069
Ensembl chr 1:151,300,467...151,413,521
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
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 97
OMIM
ClinVar
PMID:22703879 PMID:25326637 PMID:25741868 PMID:25941349 PMID:27696107 More... NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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:25855803 PMID:26467025 More... NCBI chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914
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
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 99
OMIM
ClinVar
PMID:12673573 PMID:25331638 PMID:25741868 PMID:31656313 NCBI chr10:67,329,347...67,386,790
Ensembl chr10:67,330,751...67,386,789
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      auditory system disease 913
        inner ear disease 649
          sensorineural hearing loss 609
            autosomal recessive nonsyndromic deafness 111
              Autosomal Recessive Nonsyndromic Deafness 117 1
              Autosomal Recessive Nonsyndromic Deafness 118 0
              Autosomal Recessive Nonsyndromic Deafness 119 0
              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 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 2
              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 3
              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 4
              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 2
              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 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          Otorhinolaryngologic Diseases 1349
            auditory system disease 913
              Hearing Disorders 741
                Hearing Loss 737
                  Deafness 386
                    nonsyndromic deafness 278
                      autosomal recessive nonsyndromic deafness 111
                        Autosomal Recessive Nonsyndromic Deafness 117 1
                        Autosomal Recessive Nonsyndromic Deafness 118 0
                        Autosomal Recessive Nonsyndromic Deafness 119 0
                        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 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 2
                        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 3
                        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 4
                        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 2
                        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
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