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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:Sensation Disorders
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Accession:DOID:9003045 term browser browse the term
Definition:Disorders of the special senses (i.e., VISION; HEARING; TASTE; and SMELL) or somatosensory system (i.e., afferent components of the PERIPHERAL NERVOUS SYSTEM).
Synonyms:exact_synonym: Sensation Disorder;   Sensory Disorder;   Sensory Disorders;   Special Senses Disorder;   Special Senses Disorders
 primary_id: MESH:D012678;   RDO:0001889
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Sensation Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdyn prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19200067 NCBI chr 2:129,686,549...129,699,938
Ensembl chr 2:129,686,565...129,699,844
JBrowse link
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serac1 serine active site containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
ClinVar Annotator: match by OMIM:614739
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22683713 PMID:23707711 PMID:24033266 More... NCBI chr17:6,040,571...6,079,789
Ensembl chr17:6,042,196...6,079,741
JBrowse link
Abruzzo-Erickson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx22 T-box 22 ISO ClinVar Annotator: match by OMIM:302905 OMIM
ClinVar
PMID:839509 PMID:22784330 NCBI chr  X:107,667,964...107,688,980
Ensembl chr  X:107,667,964...107,688,978
JBrowse link
achromatopsia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:16199547 PMID:24033266 PMID:26029869 PMID:26063662 PMID:26070061 More... NCBI chr 1:170,704,457...170,868,585
Ensembl chr 1:170,704,674...170,867,771
JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:19074807 PMID:23714322 PMID:25307992 PMID:28492532 PMID:29525873 More... NCBI chr19:4,135,423...4,144,080
Ensembl chr19:4,135,423...4,144,033
JBrowse link
G Cnga3 cyclic nucleotide gated channel alpha 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9662398 PMID:11536077 PMID:14757870 PMID:15712225 PMID:16961972 More... NCBI chr 1:37,218,241...37,263,384
Ensembl chr 1:37,214,434...37,263,384
JBrowse link
G Cngb3 cyclic nucleotide gated channel beta 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:1347967 PMID:1572225 PMID:10888875 PMID:10958649 PMID:11124331 More... NCBI chr 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623
JBrowse link
G Gnat2 guanine nucleotide binding protein, alpha transducing 2 ISO
IEA
ClinVar Annotator: match by term: Achromatopsia ClinVar
MouseDO
PMID:25741868 NCBI chr 3:108,086,788...108,101,432
Ensembl chr 3:108,092,789...108,101,432
JBrowse link
G Opn1mw opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chr  X:74,127,466...74,150,756
Ensembl chr  X:74,127,464...74,150,760
JBrowse link
G Pde6c phosphodiesterase 6C, cGMP specific, cone, alpha prime ISO
IEA
ClinVar Annotator: match by term: Achromatopsia ClinVar
MouseDO
PMID:9536098 PMID:10393054 PMID:16199547 PMID:17576681 PMID:18614542 More... NCBI chr19:38,132,781...38,183,955
Ensembl chr19:38,132,781...38,183,958
JBrowse link
Achromatopsia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnga3 cyclic nucleotide gated channel alpha 3 ISO DNA:missense mutations:exon:c.682G>A (p.E228K), c.1315C>T (p.R439W), c.1405G>A (p.A469T) (human) RGD PMID:18521937 RGD:9068452 NCBI chr 1:37,218,241...37,263,384
Ensembl chr 1:37,214,434...37,263,384
JBrowse link
G Cngb3 cyclic nucleotide gated channel beta 3 treatment ISO
IMP
DNA:deletion: :c.1148delC (human) RGD PMID:17265047 PMID:21576125 PMID:21576125 RGD:9068446, RGD:9068450, RGD:9068450 NCBI chr 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623
JBrowse link
achromatopsia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnga3 cyclic nucleotide gated channel alpha 3 ISO
IEA
ClinVar Annotator: match by term: Achromatopsia 2
ClinVar Annotator: match by term: Rod monochromacy 2
OMIM:216900
ClinVar Annotator: match by OMIM:216900
OMIM
ClinVar
MouseDO
PMID:9662398 PMID:11536077 PMID:14715947 PMID:14757870 PMID:15712225 More... NCBI chr 1:37,218,241...37,263,384
Ensembl chr 1:37,214,434...37,263,384
JBrowse link
achromatopsia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cngb3 cyclic nucleotide gated channel beta 3 ISO
IEA
ClinVar Annotator: match by term: Achromatopsia 3
ClinVar Annotator: match by term: Total colorblindness with myopia
OMIM:262300
ClinVar Annotator: match by term: ROD MONOCHROMATISM 1
ClinVar Annotator: match by OMIM:262300
OMIM
ClinVar
MouseDO
PMID:1347967 PMID:1572225 PMID:9536098 PMID:10888875 PMID:10958649 More... NCBI chr 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623
JBrowse link
achromatopsia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnat2 guanine nucleotide binding protein, alpha transducing 2 ISO
IEA
ClinVar Annotator: match by term: Achromatopsia 4
OMIM:613856
ClinVar Annotator: match by OMIM:613856
OMIM
ClinVar
MouseDO
PMID:12077706 PMID:12205108 PMID:15557429 PMID:21107338 PMID:25741868 More... NCBI chr 3:108,086,788...108,101,432
Ensembl chr 3:108,092,789...108,101,432
JBrowse link
Achromatopsia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6c phosphodiesterase 6C, cGMP specific, cone, alpha prime ISO ClinVar Annotator: match by term: Achromatopsia 5 ClinVar PMID:19615668 PMID:19887631 PMID:21127010 PMID:25741868 PMID:28492532 More... NCBI chr19:38,132,781...38,183,955
Ensembl chr19:38,132,781...38,183,958
JBrowse link
achromatopsia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Achromatopsia 7 OMIM
ClinVar
PMID:24824130 PMID:25741868 PMID:26029869 PMID:26063662 PMID:28028229 More... NCBI chr 1:170,704,457...170,868,585
Ensembl chr 1:170,704,674...170,867,771
JBrowse link
Amaurosis Fugax term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO RGD PMID:15073384 RGD:1582361 NCBI chr 9:7,464,141...7,476,869
Ensembl chr 9:7,464,141...7,476,869
JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) ISO RGD PMID:15073384 RGD:1582361 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047
JBrowse link
G Ppp1r15a protein phosphatase 1, regulatory subunit 15A IEP mRNA:increased expression:neuroretina (mouse) RGD PMID:17975099 RGD:9999160 NCBI chr 7:45,522,917...45,526,268
Ensembl chr 7:45,522,916...45,526,268
JBrowse link
amblyopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha ISO protein:decreased expression:visual cortex (rat) RGD PMID:20438809 RGD:10059668 NCBI chr 5:51,454,249...52,115,853
Ensembl chr 5:51,454,250...51,567,726
JBrowse link
G Tfap2a transcription factor AP-2, alpha ISO ClinVar Annotator: match by term: Lazy eye ClinVar PMID:25741868 NCBI chr13:40,713,802...40,738,238
Ensembl chr13:40,715,302...40,738,376
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Lazy eye ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20803644 More... NCBI chr11:115,813,728...115,823,102
Ensembl chr11:115,814,724...115,823,094
JBrowse link
aminoglycoside-induced deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Co1 cytochrome c oxidase I, mitochondrial ISO ClinVar Annotator: match by term: Aminoglycoside-induced deafness ClinVar PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 More... NCBI chr MT:5,328...6,872
Ensembl chr MT:5,328...6,872
JBrowse link
G mt-Rnr1 12S rRNA, mitochondrial ISO ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY ClinVar PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:9039999 More... NCBI chr MT:70...1,024
Ensembl chr MT:70...1,024
JBrowse link
G mt-Ts1 tRNA serine 1, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY
ClinVar Annotator: match by term: Aminoglycoside-induced deafness
CTD
ClinVar
PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 More... NCBI chr MT:6,870...6,938
Ensembl chr MT:6,870...6,938
JBrowse link
G Trmu tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase ISO ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of OMIM
ClinVar
PMID:8817331 PMID:25741868 PMID:28049726 PMID:28492532 NCBI chr15:85,879,309...85,897,394
Ensembl chr15:85,879,312...85,897,394
JBrowse link
Anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr2f polymerase (RNA) II (DNA directed) polypeptide F ISO ClinVar Annotator: match by term: Anosmia ClinVar PMID:25741868 NCBI chr15:79,141,325...79,151,774
Ensembl chr15:79,141,009...79,151,774
JBrowse link
G Smchd1 SMC hinge domain containing 1 ISO ClinVar Annotator: match by term: Anosmia ClinVar PMID:8723126 PMID:28067909 NCBI chr17:71,344,489...71,475,366
Ensembl chr17:71,344,489...71,475,343
JBrowse link
G Sox10 SRY (sex determining region Y)-box 10 ISO ClinVar Annotator: match by term: Anosmia ClinVar PMID:25741868 NCBI chr15:79,154,913...79,164,490
Ensembl chr15:79,154,908...79,165,240
JBrowse link
Arts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain transcription factor 2 ISO DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) RGD PMID:17701896 RGD:12910562 NCBI chr 3:129,199,878...129,219,594
Ensembl chr 3:129,199,878...129,219,591
JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Arts syndrome
ClinVar Annotator: match by OMIM:301835
OMIM
ClinVar
PMID:1664177 PMID:6243137 PMID:8253776 PMID:8498830 PMID:17701896 More... NCBI chr  X:140,456,603...140,476,140
Ensembl chr  X:140,456,613...140,476,140
JBrowse link
Athabaskan brainstem dysgenesis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa1 homeobox A1 ISO
IEA
ClinVar Annotator: match by term: Bosley Salih Alorainy syndrome
ClinVar Annotator: match by term: Athabaskan Brainstem Dysgenesis Syndrome
OMIM:601536
ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:185delG,175-176insG,76C>T(human)
ClinVar Annotator: match by synonym: Bosley-Salih-Alorainy syndrome
ClinVar Annotator: match by OMIM:601536
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:16155570 PMID:18412118 PMID:24239177 PMID:25741868 PMID:28492532 More... RGD:11553818 NCBI chr 6:52,155,367...52,160,007
Ensembl chr 6:52,155,590...52,158,317
JBrowse link
G Hoxa2 homeobox A2 ISO ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome ClinVar NCBI chr 6:52,162,417...52,164,831
Ensembl chr 6:52,162,417...52,164,831
JBrowse link
Auditory Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Rnr1 12S rRNA, mitochondrial ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:11079536 PMID:11313749 PMID:15466285 PMID:15555598 PMID:15637703 More... NCBI chr MT:70...1,024
Ensembl chr MT:70...1,024
JBrowse link
Auditory Neuropathy and Optic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fdxr ferredoxin reductase ISO ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY ClinVar
OMIM
PMID:24033266 PMID:25741868 PMID:28965846 NCBI chr11:115,268,024...115,277,101
Ensembl chr11:115,268,024...115,277,050
JBrowse link
autosomal dominant auditory neuropathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph3 diaphanous related formin 3 ISO
IEA
ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant, 1
OMIM:609129
ClinVar Annotator: match by null
OMIM
ClinVar
MouseDO
PMID:20624953 PMID:25741868 PMID:28492532 NCBI chr14:86,655,357...87,141,247
Ensembl chr14:86,655,367...87,141,235
JBrowse link
autosomal dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt1 DNA methyltransferase (cytosine-5) 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
ClinVar Annotator: match by OMIM:604121
OMIM
ClinVar
PMID:8747854 PMID:22328086 PMID:25741868 PMID:28492532 NCBI chr 9:20,907,206...20,959,888
Ensembl chr 9:20,907,209...20,959,888
JBrowse link
autosomal dominant congenital deafness with onychodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b2 ATPase, H+ transporting, lysosomal V1 subunit B2 ISO
IEA
ClinVar Annotator: match by term: DDOD SYNDROME, UMLS MESH term: Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant
OMIM:124480
ClinVar
MouseDO
OMIM
PMID:24913193 PMID:25741868 PMID:28396750 NCBI chr 8:69,088,736...69,113,718
Ensembl chr 8:69,088,646...69,113,711
JBrowse link
Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
DNA:missense mutations:cds:p.P17T, p.V18P (human)
ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1
OMIM
ClinVar
RGD
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 More... RGD:12910984 NCBI chr 5:104,170,703...104,180,127
Ensembl chr 5:104,170,712...104,180,127
JBrowse link
Autosomal Dominant Deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh14 myosin, heavy polypeptide 14 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 4 ClinVar PMID:15015131 PMID:15845534 PMID:16222661 PMID:23967202 PMID:24033266 More... NCBI chr 7:44,605,803...44,670,872
Ensembl chr 7:44,605,803...44,670,843
JBrowse link
autosomal dominant keratitis-ichthyosis-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 IMP
ISO
IEA
p.S17F(mouse)
ClinVar Annotator: match by term: KID syndrome, autosomal dominant
ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant
ClinVar Annotator: match by term: Keratitis, Ichthyosis, and Deafness (KID) Syndrome
OMIM:148210
ClinVar Annotator: match by OMIM:148210
DNA:mutation:cds:p.D50N (human)
p.G45E(mouse)
DNA:mutation:cds:p.N14K(human)
DNA:mutations:cds:p.G11E,p.D50N(human)
ClinVar
MouseDO
OMIM
RGD
PMID:1218943 PMID:1693158 PMID:2706105 PMID:2956987 PMID:8789457 More... RGD:7364809, RGD:7364885, RGD:7364889, RGD:7364813, RGD:7364811 NCBI chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
JBrowse link
autosomal dominant nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2b2 ATPase, Ca++ transporting, plasma membrane 2 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar NCBI chr 6:113,743,831...114,042,613
Ensembl chr 6:113,743,831...114,042,613
JBrowse link
G Diablo diablo, IAP-binding mitochondrial protein ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chr 5:123,511,330...123,524,164
Ensembl chr 5:123,509,765...123,524,176
JBrowse link
G Greb1l growth regulation by estrogen in breast cancer-like ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 PMID:32585897 NCBI chr18:10,324,933...10,562,945
Ensembl chr18:10,325,177...10,562,940
JBrowse link
G Pde1c phosphodiesterase 1C ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:29860631 NCBI chr 6:56,069,798...56,652,510
Ensembl chr 6:56,069,804...56,652,487
JBrowse link
G Pls1 plastin 1 (I-isoform) ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing impairment
ClinVar PMID:30872814 PMID:31397523 NCBI chr 9:95,752,642...95,845,306
Ensembl chr 9:95,752,642...95,845,311
JBrowse link
autosomal dominant nonsyndromic deafness 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankhd1 ankyrin repeat and KH domain containing 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,560,603...36,658,908
Ensembl chr18:36,559,987...36,658,913
JBrowse link
G Apbb3 amyloid beta (A4) precursor protein-binding, family B, member 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,671,154...36,679,366
Ensembl chr18:36,671,154...36,679,366
JBrowse link
G Brd8 bromodomain containing 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:34,598,611...34,624,863
Ensembl chr18:34,598,615...34,624,601
JBrowse link
G Cd14 CD14 antigen ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,725,064...36,726,815
Ensembl chr18:36,725,067...36,726,798
JBrowse link
G Cdc23 CDC23 cell division cycle 23 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:34,628,348...34,651,749
Ensembl chr18:34,630,951...34,651,735
JBrowse link
G Cdc25c cell division cycle 25C ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:34,732,993...34,751,564
Ensembl chr18:34,732,993...34,751,533
JBrowse link
G Ctnna1 catenin (cadherin associated protein), alpha 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:35,118,902...35,254,776
Ensembl chr18:35,118,859...35,254,779
JBrowse link
G Cxxc5 CXXC finger 5 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:35,829,379...35,861,693
Ensembl chr18:35,829,397...35,861,688
JBrowse link
G Cystm1 cysteine-rich transmembrane module containing 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,348,624...36,402,979
Ensembl chr18:36,342,520...36,403,097
JBrowse link
G Diaph1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr18:37,843,601...37,935,622
Ensembl chr18:37,843,601...37,935,476
JBrowse link
G Dnajc18 DnaJ heat shock protein family (Hsp40) member C18 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:35,671,103...35,708,418
Ensembl chr18:35,671,103...35,708,414
JBrowse link
G Dnd1 DND microRNA-mediated repression inhibitor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,763,671...36,766,214
Ensembl chr18:36,763,671...36,766,214
JBrowse link
G Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:35,713,086...35,722,413
Ensembl chr18:35,713,086...35,722,356
JBrowse link
G Egr1 early growth response 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:34,861,207...34,864,956
Ensembl chr18:34,859,823...34,864,984
JBrowse link
G Eif4ebp3 eukaryotic translation initiation factor 4E binding protein 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,664,060...36,666,324
Ensembl chr18:36,664,060...36,665,917
JBrowse link
G Etf1 eukaryotic translation termination factor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:34,902,785...34,932,008
Ensembl chr18:34,902,785...34,932,007
JBrowse link
G Fam13b family with sequence similarity 13, member B ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:34,440,571...34,523,047
Ensembl chr18:34,442,351...34,506,831
JBrowse link
G Fam53c family with sequence similarity 53, member C ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:34,758,831...34,773,760
Ensembl chr18:34,758,906...34,773,760
JBrowse link
G Gfra3 glial cell line derived neurotrophic factor family receptor alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:34,689,898...34,720,387
Ensembl chr18:34,689,898...34,720,387
JBrowse link
G Hars histidyl-tRNA synthetase ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,766,528...36,783,205
Ensembl chr18:36,766,528...36,783,205
JBrowse link
G Hars2 histidyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,783,202...36,792,562
Ensembl chr18:36,783,008...36,792,562
JBrowse link
G Hbegf heparin-binding EGF-like growth factor ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,504,927...36,515,805
Ensembl chr18:36,504,927...36,515,805
JBrowse link
G Hnrnpa0 heterogeneous nuclear ribonucleoprotein A0 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr13:58,125,879...58,128,556
Ensembl chr13:58,125,879...58,128,556
JBrowse link
G Hspa9 heat shock protein 9 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:34,937,414...34,954,351
Ensembl chr18:34,937,414...34,954,357
JBrowse link
G Igip IgA inducing protein ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,300,101...36,301,478
Ensembl chr18:36,298,679...36,301,517
JBrowse link
G Ik IK cytokine ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,744,656...36,757,639
Ensembl chr18:36,744,656...36,757,639
JBrowse link
G Kdm3b KDM3B lysine (K)-specific demethylase 3B ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:34,777,008...34,839,370
Ensembl chr18:34,777,047...34,838,660
JBrowse link
G Kif20a kinesin family member 20A ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:34,624,624...34,633,277
Ensembl chr18:34,624,613...34,633,277
JBrowse link
G Klhl3 kelch-like 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr13:58,000,226...58,123,477
Ensembl chr13:58,000,228...58,113,592
JBrowse link
G Lrrtm2 leucine rich repeat transmembrane neuronal 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:35,209,003...35,215,024
Ensembl chr18:35,209,003...35,215,024
JBrowse link
G Matr3 matrin 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:35,562,158...35,592,045
Ensembl chr18:35,562,138...35,593,835
JBrowse link
G Myot myotilin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:44,334,053...44,355,740
Ensembl chr18:44,334,074...44,355,724
JBrowse link
G Mzb1 marginal zone B and B1 cell-specific protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:35,647,265...35,650,266
Ensembl chr18:35,647,267...35,649,367
JBrowse link
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,742,332...36,744,587
Ensembl chr18:36,742,332...36,744,557
JBrowse link
G Nme5 NME/NM23 family member 5 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:34,562,634...34,579,152
Ensembl chr18:34,562,634...34,579,115
JBrowse link
G Nrg2 neuregulin 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,014,581...36,197,532
Ensembl chr18:36,017,652...36,197,380
JBrowse link
G Paip2 polyadenylate-binding protein-interacting protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:35,598,610...35,617,186
Ensembl chr18:35,598,617...35,617,187
JBrowse link
G Pcdha1 protocadherin alpha 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,930,285...37,187,657
Ensembl chr18:36,930,184...37,187,661
JBrowse link
G Pcdha11 protocadherin alpha 11 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,010,858...37,187,657
Ensembl chr18:37,010,712...37,187,657
JBrowse link
G Pcdha12 protocadherin alpha 12 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,020,230...37,187,657
Ensembl chr18:37,020,149...37,187,657
JBrowse link
G Pcdha2 protocadherin alpha 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,939,205...37,187,661
Ensembl chr18:36,939,205...37,187,657
JBrowse link
G Pcdha3 protocadherin alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,946,088...37,187,663
Ensembl chr18:36,946,105...37,187,657
JBrowse link
G Pcdha4 protocadherin alpha 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,952,689...37,187,657
Ensembl chr18:36,952,648...37,187,661
JBrowse link
G Pcdha5 protocadherin alpha 5 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,960,276...37,187,663
Ensembl chr18:36,960,440...37,187,657
JBrowse link
G Pcdha6 protocadherin alpha 6 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,967,625...37,188,897
Ensembl chr18:36,967,631...37,187,657
JBrowse link
G Pcdha7 protocadherin alpha 7 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,973,811...37,187,663
Ensembl chr18:36,973,802...37,187,657
JBrowse link
G Pcdha8 protocadherin alpha 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,992,467...37,187,657
Ensembl chr18:36,992,371...37,187,657
JBrowse link
G Pcdha9 protocadherin alpha 9 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,997,880...37,187,657
Ensembl chr18:36,997,880...37,187,657
JBrowse link
G Pcdhac1 protocadherin alpha subfamily C, 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,090,136...37,187,657
Ensembl chr18:37,090,013...37,187,657
JBrowse link
G Pcdhac2 protocadherin alpha subfamily C, 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,143,678...37,187,663
Ensembl chr18:37,143,503...37,187,657
JBrowse link
G Pcdhb1 protocadherin beta 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,264,998...37,267,454
Ensembl chr18:37,264,938...37,267,525
JBrowse link
G Pcdhb13 protocadherin beta 13 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,442,517...37,446,209
Ensembl chr18:37,442,500...37,446,209
JBrowse link
G Pcdhb15 protocadherin beta 15 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,473,546...37,476,340
Ensembl chr18:37,473,540...37,476,340
JBrowse link
G Pcdhb16 protocadherin beta 16 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,477,768...37,483,038
Ensembl chr18:37,477,814...37,483,038
JBrowse link
G Pcdhb17 protocadherin beta 17 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,485,021...37,488,290
Ensembl chr18:37,484,795...37,489,454
JBrowse link
G Pcdhb18 protocadherin beta 18 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,489,465...37,494,503
Ensembl chr18:37,489,465...37,494,505
JBrowse link
G Pcdhb19 protocadherin beta 19 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,496,998...37,501,711
Ensembl chr18:37,496,991...37,504,128
JBrowse link
G Pcdhb2 protocadherin beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,294,840...37,297,614
Ensembl chr18:37,294,812...37,297,624
JBrowse link
G Pcdhb20 protocadherin beta 20 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,504,264...37,507,660
Ensembl chr18:37,504,264...37,507,822
JBrowse link
G Pcdhb22 protocadherin beta 22 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,518,353...37,521,419
Ensembl chr18:37,517,871...37,524,479
JBrowse link
G Pcdhb3 protocadherin beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,300,799...37,304,585
Ensembl chr18:37,300,799...37,304,585
JBrowse link
G Pcdhb4 protocadherin beta 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,307,455...37,311,173
Ensembl chr18:37,307,455...37,311,172
JBrowse link
G Pcdhb5 protocadherin beta 5 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,320,381...37,323,913
Ensembl chr18:37,320,381...37,323,915
JBrowse link
G Pcdhga1 protocadherin gamma subfamily A, 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,661,775...37,841,870
Ensembl chr18:37,661,793...37,841,873
JBrowse link
G Pcdhga10 protocadherin gamma subfamily A, 10 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,747,016...37,841,870
Ensembl chr18:37,746,993...37,841,873
JBrowse link
G Pcdhga11 protocadherin gamma subfamily A, 11 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,755,773...37,841,873
Ensembl chr18:37,755,731...37,841,873
JBrowse link
G Pcdhga12 protocadherin gamma subfamily A, 12 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,765,580...37,841,873
Ensembl chr18:37,765,580...37,841,873
JBrowse link
G Pcdhga2 protocadherin gamma subfamily A, 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,668,927...37,841,870
Ensembl chr18:37,668,953...37,841,870
JBrowse link
G Pcdhga3 protocadherin gamma subfamily A, 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,674,335...37,841,873
Ensembl chr18:37,674,307...37,841,873
JBrowse link
G Pcdhga4 protocadherin gamma subfamily A, 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,685,237...37,841,870
Ensembl chr18:37,685,210...37,841,873
JBrowse link
G Pcdhga5 protocadherin gamma subfamily A, 5 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,694,375...37,841,870
Ensembl chr18:37,694,380...37,841,873
JBrowse link
G Pcdhga6 protocadherin gamma subfamily A, 6 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,707,101...37,841,870
Ensembl chr18:37,707,039...37,841,873
JBrowse link
G Pcdhga7 protocadherin gamma subfamily A, 7 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,714,834...37,841,873
Ensembl chr18:37,714,764...37,841,873
JBrowse link
G Pcdhga8 protocadherin gamma subfamily A, 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,725,706...37,841,873
Ensembl chr18:37,725,706...37,841,873
JBrowse link
G Pcdhga9 protocadherin gamma subfamily A, 9 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,736,936...37,841,863
Ensembl chr18:37,736,936...37,841,870
JBrowse link
G Pcdhgb1 protocadherin gamma subfamily B, 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,680,272...37,841,870
Ensembl chr18:37,680,233...37,841,870
JBrowse link
G Pcdhgb2 protocadherin gamma subfamily B, 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,689,859...37,841,872
Ensembl chr18:37,689,828...37,841,873
JBrowse link
G Pcdhgb4 protocadherin gamma subfamily B, 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,720,376...37,841,870
Ensembl chr18:37,720,369...37,841,870
JBrowse link
G Pcdhgb5 protocadherin gamma subfamily B, 5 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,730,971...37,841,870
Ensembl chr18:37,731,009...37,841,873
JBrowse link
G Pcdhgb6 protocadherin gamma subfamily B, 6 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,742,094...37,841,873
Ensembl chr18:37,742,094...37,841,873
JBrowse link
G Pcdhgb7 protocadherin gamma subfamily B, 7 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,751,619...37,841,870
Ensembl chr18:37,751,600...37,841,873
JBrowse link
G Pcdhgb8 protocadherin gamma subfamily B, 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,761,801...37,840,489
Ensembl chr18:37,761,801...37,841,870
JBrowse link
G Pcdhgc3 protocadherin gamma subfamily C, 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,806,410...37,841,873
Ensembl chr18:37,806,364...37,841,873
JBrowse link
G Pcdhgc4 protocadherin gamma subfamily C, 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,815,079...37,841,873
Ensembl chr18:37,815,079...37,841,873
JBrowse link
G Pcdhgc5 protocadherin gamma subfamily C, 5 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,819,546...37,841,873
Ensembl chr18:37,819,513...37,841,873
JBrowse link
G Pfdn1 prefoldin 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,403,679...36,454,495
Ensembl chr18:36,403,676...36,454,524
JBrowse link
G Pkd2l2 polycystic kidney disease 2-like 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:34,408,501...34,442,798
Ensembl chr18:34,408,489...34,444,116
JBrowse link
G Prob1 proline rich basic protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:35,650,347...35,655,221
Ensembl chr18:35,650,351...35,655,238
JBrowse link
G Psd2 pleckstrin and Sec7 domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:35,963,872...36,014,715
Ensembl chr18:35,964,830...36,014,715
JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,280,560...36,292,535
Ensembl chr18:36,281,097...36,292,535
JBrowse link
G Reep2 receptor accessory protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:34,840,589...34,847,463
Ensembl chr18:34,840,589...34,847,463
JBrowse link
G Sil1 endoplasmic reticulum chaperone SIL1 homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:35,266,396...35,499,390
Ensembl chr18:35,266,396...35,499,780
JBrowse link
G Slc23a1 solute carrier family 23 (nucleobase transporters), member 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:35,604,224...35,629,845
Ensembl chr18:35,614,604...35,627,244
JBrowse link
G Slc25a2 solute carrier family 25 (mitochondrial carrier, ornithine transporter) member 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,637,378...37,638,723
Ensembl chr18:37,637,378...37,638,723
Ensembl chr18:37,637,378...37,638,723
JBrowse link
G Slc35a4 solute carrier family 35, member A4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,679,215...36,683,862
Ensembl chr18:36,679,215...36,683,861
JBrowse link
G Slc4a9 solute carrier family 4, sodium bicarbonate cotransporter, member 9 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,528,066...36,556,272
Ensembl chr18:36,528,147...36,556,273
JBrowse link
G Spata24 spermatogenesis associated 24 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:35,656,689...35,662,186
Ensembl chr18:35,656,689...35,662,186
JBrowse link
G Spock1 sparc/osteonectin, cwcv and kazal-like domains proteoglycan 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr13:57,421,195...57,908,332
Ensembl chr13:57,421,195...57,908,332
JBrowse link
G Sra1 steroid receptor RNA activator 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,667,187...36,670,311
Ensembl chr18:36,666,681...36,670,815
JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:35,733,678...35,740,554
Ensembl chr18:35,733,679...35,740,554
JBrowse link
G Taf7 TATA-box binding protein associated factor 7 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:37,640,491...37,644,204
Ensembl chr18:37,640,491...37,644,204
JBrowse link
G Tmco6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,735,019...36,742,400
Ensembl chr18:36,735,039...36,742,397
JBrowse link
G Ube2d2a ubiquitin-conjugating enzyme E2D 2A ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:35,771,559...35,807,172
Ensembl chr18:35,771,558...35,809,494
JBrowse link
G Wdr55 WD repeat domain 55 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,760,222...36,763,708
Ensembl chr18:36,760,220...36,763,810
JBrowse link
G Wnt8a wingless-type MMTV integration site family, member 8A ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:34,542,327...34,548,061
Ensembl chr18:34,542,313...34,548,273
JBrowse link
G Zmat2 zinc finger, matrin type 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,793,923...36,799,660
Ensembl chr18:36,793,876...36,799,666
JBrowse link
autosomal dominant nonsyndromic deafness 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 10
ClinVar Annotator: match by OMIM:601316
OMIM
ClinVar
PMID:11159937 PMID:15735644 PMID:16199547 PMID:17567890 PMID:17568404 More... NCBI chr10:23,102,962...23,350,838
Ensembl chr10:23,102,963...23,350,786
JBrowse link
autosomal dominant nonsyndromic deafness 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 11
ClinVar Annotator: match by OMIM:601317
OMIM
ClinVar
PMID:3130723 PMID:8900236 PMID:9354784 PMID:9382091 PMID:9536098 More... NCBI chr 7:98,051,054...98,119,522
Ensembl chr 7:98,051,060...98,119,524
JBrowse link
autosomal dominant nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tecta tectorin alpha ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal dominant 12
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8
OMIM:601543
ClinVar Annotator: match by OMIM:601543
ClinVar Annotator: match by null
OMIM
ClinVar
MouseDO
PMID:9590290 PMID:10196713 PMID:10987647 PMID:11087000 PMID:11333869 More... NCBI chr 9:42,329,622...42,401,690
Ensembl chr 9:42,329,619...42,399,929
JBrowse link
autosomal dominant nonsyndromic deafness 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen, type XI, alpha 2 ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal dominant 13
OMIM:601868
ClinVar Annotator: match by OMIM:601868
OMIM
ClinVar
MouseDO
PMID:10581026 PMID:15372529 PMID:24033266 PMID:25633957 PMID:25741868 More... NCBI chr17:34,038,919...34,066,684
Ensembl chr17:34,039,437...34,066,685
JBrowse link
autosomal dominant nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou4f3 POU domain, class 4, transcription factor 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 15
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:602459
OMIM
ClinVar
PMID:9506947 PMID:14585957 PMID:18228599 PMID:20434433 PMID:24033266 More... NCBI chr18:42,394,597...42,396,093
Ensembl chr18:42,394,539...42,397,249
JBrowse link
autosomal dominant nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Strc stereocilin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:22147502 PMID:24033266 NCBI chr 2:121,363,248...121,381,370
Ensembl chr 2:121,363,728...121,387,168
JBrowse link
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17
ClinVar Annotator: match by term: Deafness, autosomal dominant 17
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 17
OMIM
ClinVar
PMID:9390828 PMID:10973259 PMID:11023810 PMID:11590545 PMID:11752022 More... NCBI chr15:77,760,585...77,842,175
Ensembl chr15:77,760,587...77,842,175
JBrowse link
autosomal dominant nonsyndromic deafness 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg1 actin, gamma, cytoplasmic 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 20
ClinVar Annotator: match by OMIM:604717
OMIM
ClinVar
PMID:5654493 PMID:12519370 PMID:13680526 PMID:14684684 PMID:16773128 More... NCBI chr11:120,345,687...120,348,495
Ensembl chr11:120,345,690...120,348,542
JBrowse link
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo6 myosin VI ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal dominant 22
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22
OMIM:606346
ClinVar Annotator: match by OMIM:606346
OMIM
ClinVar
MouseDO
PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 PMID:18212818 More... NCBI chr 9:80,164,976...80,311,729
Ensembl chr 9:80,165,031...80,311,729
JBrowse link
autosomal dominant nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six1 sine oculis-related homeobox 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 23
ClinVar Annotator: match by OMIM:605192
OMIM
ClinVar
PMID:10777717 PMID:12843324 PMID:15141091 PMID:16971658 PMID:19497856 More... NCBI chr12:73,041,827...73,046,712
Ensembl chr12:73,040,015...73,053,887
JBrowse link
autosomal dominant nonsyndromic deafness 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc17a8 solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal dominant 25
OMIM:605583
OMIM
ClinVar
MouseDO
PMID:11115382 PMID:18674745 PMID:23967202 PMID:24033266 PMID:25741868 More... NCBI chr10:89,574,020...89,621,249
Ensembl chr10:89,574,020...89,621,253
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 IEA OMIM:605583 MouseDO NCBI chr 5:114,622,152...114,658,435
Ensembl chr 5:114,622,152...114,658,421
JBrowse link
autosomal dominant nonsyndromic deafness 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rest RE1-silencing transcription factor ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 27 OMIM
ClinVar
PMID:29961578 NCBI chr 5:77,265,494...77,286,432
Ensembl chr 5:77,265,491...77,286,432
JBrowse link
autosomal dominant nonsyndromic deafness 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grhl2 grainyhead like transcription factor 2 ISO DNA:nonsense mutation:exon:
ClinVar Annotator: match by term: Deafness, autosomal dominant 28
ClinVar Annotator: match by OMIM:608641
ClinVar
OMIM
RGD
PMID:12393799 PMID:23813623 PMID:25741868 PMID:12393799 RGD:1599382 NCBI chr15:37,232,821...37,363,569
Ensembl chr15:37,233,036...37,363,569
JBrowse link
autosomal dominant nonsyndromic deafness 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq4 potassium voltage-gated channel, subfamily Q, member 4 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A
ClinVar Annotator: match by term: DFNA 2 Nonsyndromic Hearing Loss
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 2A
ClinVar Annotator: match by OMIM:600101
OMIM
ClinVar
PMID:8035838 PMID:9126484 PMID:10025409 PMID:10369879 PMID:10571947 More... NCBI chr 4:120,696,134...120,747,491
Ensembl chr 4:120,696,138...120,748,612
JBrowse link
autosomal dominant nonsyndromic deafness 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 2b OMIM
ClinVar
PMID:9843210 PMID:16077902 PMID:21204020 PMID:23638949 PMID:24033266 More... NCBI chr 4:127,325,235...127,330,836
Ensembl chr 4:127,325,235...127,330,844
JBrowse link
autosomal dominant nonsyndromic deafness 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION
ClinVar Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammation
ClinVar
OMIM
PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 More... NCBI chr11:59,541,569...59,566,955
Ensembl chr11:59,541,568...59,566,956
JBrowse link
autosomal dominant nonsyndromic deafness 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc1 transmembrane channel-like gene family 1 ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal dominant 36
OMIM:606705
ClinVar Annotator: match by OMIM:606705
OMIM
ClinVar
MouseDO
PMID:11850618 PMID:15354000 PMID:16134132 PMID:17250663 PMID:18616530 More... NCBI chr19:20,783,456...21,037,126
Ensembl chr19:20,783,458...20,954,202
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen, type XI, alpha 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 37
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 37
OMIM
ClinVar
PMID:7695699 PMID:8218237 PMID:10612821 PMID:17999364 PMID:19344236 More... NCBI chr 3:114,030,479...114,220,756
Ensembl chr 3:114,030,540...114,220,718
JBrowse link
autosomal dominant nonsyndromic deafness 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3a
ClinVar Annotator: match by OMIM:601544
OMIM
ClinVar
PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 PMID:2706105 More... NCBI chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
JBrowse link
autosomal dominant nonsyndromic deafness 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb6 gap junction protein, beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b
ClinVar Annotator: match by OMIM:612643
OMIM
ClinVar
PMID:10471490 PMID:16547895 PMID:16950989 PMID:17259707 PMID:20858605 More... NCBI chr14:57,123,301...57,133,611
Ensembl chr14:57,123,303...57,133,611
JBrowse link
autosomal dominant nonsyndromic deafness 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crym crystallin, mu ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 40 ClinVar
OMIM
PMID:12471561 PMID:24033266 PMID:25741868 NCBI chr 7:120,186,380...120,201,989
Ensembl chr 7:120,186,380...120,202,111
JBrowse link
autosomal dominant nonsyndromic deafness 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P2rx2 purinergic receptor P2X, ligand-gated ion channel, 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 41
ClinVar Annotator: match by OMIM:608224
OMIM
ClinVar
PMID:12161595 PMID:23345450 PMID:24033266 PMID:24211385 PMID:25741868 More... NCBI chr 5:110,339,812...110,343,320
Ensembl chr 5:110,339,812...110,343,212
JBrowse link
autosomal dominant nonsyndromic deafness 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc50 coiled-coil domain containing 50 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 44
DNA:duplication:cds:c.1394_1401dupCACGGCAT(human)
ClinVar Annotator: match by null
OMIM
ClinVar
RGD
PMID:17503326 PMID:24033266 PMID:25741868 PMID:17503326 RGD:9685138 NCBI chr16:27,387,065...27,452,218
Ensembl chr16:27,388,869...27,452,218
JBrowse link
autosomal dominant nonsyndromic deafness 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo1a myosin IA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 48
ClinVar Annotator: match by OMIM:607841
ClinVar
OMIM
PMID:12736868 PMID:24033266 PMID:24616153 PMID:25741868 NCBI chr10:127,703,436...127,720,940
Ensembl chr10:127,705,170...127,720,940
JBrowse link
autosomal dominant nonsyndromic deafness 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ceacam16 carcinoembryonic antigen-related cell adhesion molecule 16 IEA OMIM:600652 MouseDO NCBI chr 7:19,852,097...19,871,426
Ensembl chr 7:19,852,097...19,861,299
JBrowse link
G Myh14 myosin, heavy polypeptide 14 ISO OMIM NCBI chr 7:44,605,803...44,670,872
Ensembl chr 7:44,605,803...44,670,843
JBrowse link
autosomal dominant nonsyndromic deafness 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ceacam16 carcinoembryonic antigen-related cell adhesion molecule 16 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 4b
ClinVar Annotator: match by OMIM:614614
OMIM
ClinVar
PMID:7655461 PMID:21368133 PMID:24033266 PMID:25589040 PMID:25741868 More... NCBI chr 7:19,852,097...19,871,426
Ensembl chr 7:19,852,097...19,861,299
JBrowse link
autosomal dominant nonsyndromic deafness 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsdme gasdermin E ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 5
ClinVar Annotator: match by OMIM:600994
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9771715 PMID:14559215 PMID:14676472 PMID:17868390 PMID:19911014 More... NCBI chr 6:50,207,401...50,263,857
Ensembl chr 6:50,188,888...50,263,862
JBrowse link
autosomal dominant nonsyndromic deafness 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir96 microRNA 96 ISO ClinVar Annotator: match by OMIM:613074 OMIM
ClinVar
PMID:14757864 PMID:19363479 NCBI chr 6:30,169,446...30,169,551
Ensembl chr 6:30,169,446...30,169,551
JBrowse link
autosomal dominant nonsyndromic deafness 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar
OMIM
PMID:20602916 NCBI chr19:24,094,496...24,225,128
Ensembl chr19:24,094,505...24,225,030
JBrowse link
autosomal dominant nonsyndromic deafness 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou4f3 POU domain, class 4, transcription factor 3 ISO OMIM NCBI chr18:42,394,597...42,396,093
Ensembl chr18:42,394,539...42,397,249
JBrowse link
autosomal dominant nonsyndromic deafness 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pappa pregnancy-associated plasma protein A ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr 4:65,124,174...65,357,509
Ensembl chr 4:65,124,174...65,357,509
JBrowse link
G Tnc tenascin C ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56
ClinVar Annotator: match by OMIM:615629
OMIM
ClinVar
PMID:21681106 PMID:23936043 PMID:25741868 PMID:26467025 PMID:30311386 NCBI chr 4:63,959,785...64,047,015
Ensembl chr 4:63,959,785...64,047,015
JBrowse link
G Tnfsf8 tumor necrosis factor (ligand) superfamily, member 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr 4:63,831,202...63,861,508
Ensembl chr 4:63,831,308...63,861,347
JBrowse link
autosomal dominant nonsyndromic deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6
ClinVar Annotator: match by OMIM:600965
OMIM
ClinVar
PMID:8595423 PMID:9817917 PMID:10521293 PMID:10624825 PMID:10679252 More... NCBI chr 5:36,966,104...36,988,982
Ensembl chr 5:36,966,104...36,989,205
JBrowse link
autosomal dominant nonsyndromic deafness 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diablo diablo, IAP-binding mitochondrial protein ISO ClinVar Annotator: match by OMIM:614152 OMIM
ClinVar
PMID:21722859 NCBI chr 5:123,511,330...123,524,164
Ensembl chr 5:123,509,765...123,524,176
JBrowse link
autosomal dominant nonsyndromic deafness 65 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 65 OMIM
ClinVar
PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 More... NCBI chr17:24,175,431...24,205,562
Ensembl chr17:24,175,431...24,205,562
JBrowse link
autosomal dominant nonsyndromic deafness 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd164 CD164 antigen ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 66 ClinVar
OMIM
PMID:26197441 NCBI chr10:41,519,500...41,531,042
Ensembl chr10:41,519,414...41,531,048
JBrowse link
autosomal dominant nonsyndromic deafness 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Homer2 homer scaffolding protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 68 OMIM
ClinVar
PMID:25741868 PMID:25816005 PMID:30047143 NCBI chr 7:81,600,481...81,706,925
Ensembl chr 7:81,600,481...81,707,527
JBrowse link
autosomal dominant nonsyndromic deafness 69 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kitl kit ligand ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 69 OMIM
ClinVar
PMID:26522471 NCBI chr10:100,015,615...100,100,416
Ensembl chr10:100,015,630...100,100,416
JBrowse link
autosomal dominant nonsyndromic deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmx1a LIM homeobox transcription factor 1 alpha ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 7 OMIM
ClinVar
PMID:25741868 PMID:29754270 NCBI chr 1:167,688,230...167,848,741
Ensembl chr 1:167,689,237...167,848,741
JBrowse link
autosomal dominant nonsyndromic deafness 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm2 minichromosome maintenance complex component 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 70 ClinVar
OMIM
PMID:25741868 PMID:26196677 NCBI chr 6:88,883,474...88,898,780
Ensembl chr 6:88,883,474...88,898,780
JBrowse link
autosomal dominant nonsyndromic deafness 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmxl2 Dmx-like 2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 71
ClinVar Annotator: match by term: Deafness, autosomal dominant 71
ClinVar
OMIM
PMID:25741868 PMID:27657680 PMID:33715530 NCBI chr 9:54,365,158...54,501,866
Ensembl chr 9:54,365,158...54,501,626
JBrowse link
autosomal dominant nonsyndromic deafness 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc44a4 solute carrier family 44, member 4 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 72
ClinVar Annotator: match by term: Deafness, autosomal dominant 72
ClinVar
OMIM
PMID:25741868 PMID:28013291 NCBI chr17:34,914,224...34,930,436
Ensembl chr17:34,914,466...34,930,436
JBrowse link
autosomal dominant nonsyndromic deafness 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptprq protein tyrosine phosphatase, receptor type, Q ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 73
ClinVar Annotator: match by term: Deafness, autosomal dominant 73
ClinVar
OMIM
PMID:25741868 PMID:29309402 NCBI chr10:107,514,363...107,720,098
Ensembl chr10:107,517,049...107,720,051
JBrowse link
autosomal dominant nonsyndromic deafness 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde1c phosphodiesterase 1C ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 74 ClinVar
OMIM
PMID:29860631 NCBI chr 6:56,069,798...56,652,510
Ensembl chr 6:56,069,804...56,652,487
JBrowse link
autosomal dominant nonsyndromic deafness 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trrap transformation/transcription domain-associated protein ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 75 OMIM
ClinVar
PMID:25741868 PMID:31231791 NCBI chr 5:144,767,737...144,859,778
Ensembl chr 5:144,767,732...144,859,778
JBrowse link
autosomal dominant nonsyndromic deafness 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pls1 plastin 1 (I-isoform) ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 76 ClinVar
OMIM
PMID:25741868 PMID:30872814 PMID:31397523 PMID:31432506 NCBI chr 9:95,752,642...95,845,306
Ensembl chr 9:95,752,642...95,845,311
JBrowse link
autosomal dominant nonsyndromic deafness 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 77 OMIM
ClinVar
PMID:31273342 NCBI chr16:14,361,453...14,474,878
Ensembl chr16:14,361,558...14,475,737
JBrowse link
autosomal dominant nonsyndromic deafness 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a2 solute carrier family 12, member 2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 78 OMIM
ClinVar
PMID:32294086 PMID:32658972 NCBI chr18:57,878,512...57,946,821
Ensembl chr18:57,878,678...57,946,821
JBrowse link
autosomal dominant nonsyndromic deafness 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scd3 stearoyl-coenzyme A desaturase 3 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 79 OMIM
ClinVar
PMID:31972369 NCBI chr19:44,203,288...44,244,016
Ensembl chr19:44,203,269...44,244,016
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 80 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Greb1l growth regulation by estrogen in breast cancer-like ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 80
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 80
OMIM
ClinVar
PMID:25741868 PMID:29955957 PMID:32585897 NCBI chr18:10,324,933...10,562,945
Ensembl chr18:10,325,177...10,562,940
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 81 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elmod3 ELMO/CED-12 domain containing 3 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 81 ClinVar
OMIM
PMID:29713870 NCBI chr 6:72,565,922...72,598,431
Ensembl chr 6:72,565,922...72,598,413
JBrowse link
autosomal dominant nonsyndromic deafness 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coch cochlin ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal dominant 9
OMIM:601369
ClinVar Annotator: match by OMIM:601369
OMIM
ClinVar
MouseDO
PMID:8817345 PMID:9806553 PMID:9931344 PMID:10400989 PMID:11332404 More... NCBI chr12:51,593,283...51,606,619
Ensembl chr12:51,593,341...51,605,771
JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
ClinVar Annotator: match by OMIM:614296
OMIM
ClinVar
PMID:10679252 PMID:11295831 PMID:15605410 PMID:16648378 PMID:17492394 More... NCBI chr 5:36,966,104...36,988,982
Ensembl chr 5:36,966,104...36,989,205
JBrowse link
autosomal recessive nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr13:81,095,068...81,633,391
Ensembl chr13:81,095,068...81,633,154
JBrowse link
G Ankrd36 ankyrin repeat domain 36 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr11:5,569,680...5,689,617
Ensembl chr11:5,569,684...5,689,337
JBrowse link
G Atp6v1b1 ATPase, H+ transporting, lysosomal V1 subunit B1 IEA OMIM:607197 MouseDO NCBI chr 6:83,743,017...83,758,855
Ensembl chr 6:83,742,990...83,758,855
JBrowse link
G Bsnd barttin CLCNK type accessory beta subunit 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 4:106,483,456...106,492,243
Ensembl chr 4:106,483,456...106,492,283
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 chr19:4,081,469...4,087,340
Ensembl chr19:4,081,578...4,087,340
JBrowse link
G Cdh23 cadherin 23 (otocadherin) 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 chr10:60,302,748...60,696,513
Ensembl chr10:60,302,748...60,696,490
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 9:54,544,794...54,560,190
Ensembl chr 9:54,544,794...54,560,218
JBrowse link
G Clcnka chloride channel, voltage-sensitive Ka ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr 4:141,384,611...141,398,706
Ensembl chr 4:141,384,610...141,398,724
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 chr16:93,919,031...94,008,837
Ensembl chr16:93,919,031...94,008,837
JBrowse link
G Clic5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr17:44,134,762...44,280,169
Ensembl chr17:44,188,584...44,280,172
Ensembl chr17:44,188,584...44,280,172
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 chr14:103,814,615...103,844,508
Ensembl chr14:103,814,625...103,844,402
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 6:137,477,245...137,649,397
Ensembl chr 6:137,477,245...137,654,876
JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr 4:152,120,331...152,152,414
Ensembl chr 4:152,120,331...152,152,371
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 chr12:86,361,117...86,521,628
Ensembl chr12:86,361,117...86,521,628
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 chr10:81,335,262...81,343,620
Ensembl chr10:81,335,265...81,343,266
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 chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
JBrowse link
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by null ClinVar PMID:10587579 NCBI chr 4:127,325,235...127,330,836
Ensembl chr 4:127,325,235...127,330,844
JBrowse link
G Gm17455 predicted gene, 17455 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 chr10:60,399,493...60,403,559
Ensembl chr10:60,399,726...60,403,559
JBrowse link
G Gpsm2 G-protein signalling modulator 2 (AGS3-like, C. elegans) 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 3:108,678,270...108,722,331
Ensembl chr 3:108,678,638...108,722,309
JBrowse link
G Grxcr1 glutaredoxin, cysteine rich 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:20137778 PMID:30303587 NCBI chr 5:68,031,835...68,166,398
Ensembl chr 5:68,031,835...68,166,398
JBrowse link
G Grxcr2 glutaredoxin, cysteine rich 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr18:41,985,323...41,999,049
Ensembl chr18:41,985,323...41,999,049
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 chr16:36,693,978...36,726,804
Ensembl chr16:36,693,978...36,726,804
JBrowse link
G Lhfpl5 lipoma HMGIC fusion partner-like 5 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:16459341 PMID:30303587 NCBI chr17:28,575,369...28,583,593
Ensembl chr17:28,575,641...28,585,679
JBrowse link
G Loxhd1 lipoxygenase homology 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 chr18:77,281,658...77,442,932
Ensembl chr18:77,281,958...77,442,930
JBrowse link
G Marveld2 MARVEL (membrane-associating) domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr13:100,595,957...100,616,971
Ensembl chr13:100,595,957...100,616,971
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 chr10:120,781,100...120,899,011
Ensembl chr10:120,781,096...120,899,101
JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr15:77,760,585...77,842,175
Ensembl chr15:77,760,587...77,842,175
JBrowse link
G Myo15 myosin XV ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr11:60,469,339...60,528,369
Ensembl chr11:60,469,339...60,528,369
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 7:98,051,054...98,119,522
Ensembl chr 7:98,051,060...98,119,524
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 7:121,083,424...121,163,093
Ensembl chr 7:121,081,650...121,163,097
JBrowse link
G Otof otoferlin IAGP
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 5:30,367,066...30,462,730
Ensembl chr 5:30,367,062...30,461,932
JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr 7:46,240,987...46,311,434
Ensembl chr 7:46,240,987...46,311,434
JBrowse link
G Pcdh15 protocadherin 15 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr10:73,096,277...74,649,831
Ensembl chr10:73,099,342...74,649,737
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 2:76,650,273...76,658,554
Ensembl chr 2:76,648,476...76,658,556
JBrowse link
G Pou4f3 POU domain, class 4, transcription factor 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr18:42,394,597...42,396,093
Ensembl chr18:42,394,539...42,397,249
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 chr10:107,514,363...107,720,098
Ensembl chr10:107,517,049...107,720,051
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: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar PMID:9398842 PMID:9536098 PMID:9618166 PMID:9618167 PMID:10700480 More... NCBI chr12:31,519,814...31,560,055
Ensembl chr12:31,519,827...31,559,969
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 9:42,329,622...42,401,690
Ensembl chr 9:42,329,619...42,399,929
JBrowse link
G Tmc1 transmembrane channel-like gene family 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 chr19:20,783,456...21,037,126
Ensembl chr19:20,783,458...20,954,202
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 9:110,865,687...110,880,073
Ensembl chr 9:110,865,711...110,880,113
JBrowse link
G Tmprss3 transmembrane protease, serine 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 chr17:31,179,263...31,200,504
Ensembl chr17:31,179,265...31,198,977
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 2:25,262,598...25,269,886
Ensembl chr 2:25,262,618...25,269,885
JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr15:78,947,724...79,005,869
Ensembl chr15:78,947,724...79,005,869
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 7:46,195,350...46,238,490
Ensembl chr 7:46,195,350...46,238,503
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 chr11:115,315,192...115,333,736
Ensembl chr11:115,315,192...115,322,041
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 chr 1:188,262,838...188,965,497
Ensembl chr 1:188,262,023...188,965,041
JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr 4:63,414,908...63,496,083
Ensembl chr 4:63,414,910...63,495,991
JBrowse link
autosomal recessive nonsyndromic deafness 100 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 100 OMIM
ClinVar
PMID:15538632 PMID:25741868 PMID:29590114 NCBI chr 1:97,706,043...97,770,411
Ensembl chr 1:97,706,048...97,770,411
JBrowse link
autosomal recessive nonsyndromic deafness 101 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grxcr2 glutaredoxin, cysteine rich 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 101 ClinVar
OMIM
PMID:24619944 PMID:25741868 NCBI chr18:41,985,323...41,999,049
Ensembl chr18:41,985,323...41,999,049
JBrowse link
autosomal recessive nonsyndromic deafness 102 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eps8 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 6:137,477,245...137,649,397
Ensembl chr 6:137,477,245...137,654,876
JBrowse link
autosomal recessive nonsyndromic deafness 103 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clic5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 103 ClinVar
OMIM
PMID:24033266 PMID:24781754 PMID:25741868 PMID:28492532 NCBI chr17:44,134,762...44,280,169
Ensembl chr17:44,188,584...44,280,172
Ensembl chr17:44,188,584...44,280,172
JBrowse link
autosomal recessive nonsyndromic deafness 104 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripor2 RHO family interacting cell polarization regulator 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 104 ClinVar
OMIM
PMID:24033266 PMID:24958875 PMID:25741868 NCBI chr13:24,501,524...24,733,806
Ensembl chr13:24,501,525...24,733,816
JBrowse link
autosomal recessive nonsyndromic deafness 106 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eps8 epidermal growth factor receptor pathway substrate 8 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 106 ClinVar PMID:28492532 NCBI chr 6:137,477,245...137,649,397
Ensembl chr 6:137,477,245...137,654,876
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 7:141,338,911...141,363,020
Ensembl chr 7:141,338,880...141,363,020
JBrowse link
autosomal recessive nonsyndromic deafness 107 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wbp2 WW domain binding protein 2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 107
ClinVar Annotator: match by term: Deafness, autosomal recessive 107
ClinVar
OMIM
PMID:25741868 PMID:26881968 NCBI chr11:116,078,571...116,086,995
Ensembl chr11:116,078,573...116,086,995
JBrowse link
autosomal recessive nonsyndromic deafness 108 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ror1 receptor tyrosine kinase-like orphan receptor 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 108
ClinVar Annotator: match by term: Deafness, autosomal recessive 108
ClinVar
OMIM
PMID:25741868 PMID:27162350 NCBI chr 4:100,095,791...100,444,806
Ensembl chr 4:100,095,791...100,444,765
JBrowse link
autosomal recessive nonsyndromic deafness 109 term browser
Symbol Object Name Qualifiers 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 4:11,331,933...11,386,783
Ensembl chr 4:11,331,933...11,386,783
JBrowse link
autosomal recessive nonsyndromic deafness 110 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coch cochlin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 110
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 110
OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:29449721 PMID:31042466 NCBI chr12:51,593,283...51,606,619
Ensembl chr12:51,593,341...51,605,771
JBrowse link
autosomal recessive nonsyndromic deafness 111 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 111
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 111
OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29961571 PMID:29982980 PMID:30311386 NCBI chr 9:45,042,344...45,054,043
Ensembl chr 9:45,039,799...45,054,015
JBrowse link
autosomal recessive nonsyndromic deafness 112 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 112
ClinVar Annotator: match by term: Deafness, autosomal recessive 112
ClinVar
OMIM
PMID:24312468 PMID:25741868 NCBI chr13:100,017,994...100,104,090
Ensembl chr13:100,017,994...100,104,070
JBrowse link
autosomal recessive nonsyndromic deafness 113 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ceacam16 carcinoembryonic antigen-related cell adhesion molecule 16 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 113 OMIM
ClinVar
PMID:29703829 NCBI chr 7:19,852,097...19,871,426
Ensembl chr 7:19,852,097...19,861,299
JBrowse link
autosomal recessive nonsyndromic deafness 114 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grap GRB2-related adaptor protein ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 114 OMIM
ClinVar
PMID:25741868 PMID:30610177 NCBI chr11:61,653,321...61,672,777
Ensembl chr11:61,653,265...61,672,784
JBrowse link
autosomal recessive nonsyndromic deafness 115 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spns2 spinster homolog 2 ISO OMIM NCBI chr11:72,451,638...72,489,976
Ensembl chr11:72,451,638...72,489,904
JBrowse link
autosomal recessive nonsyndromic deafness 116 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 116
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 116
OMIM
ClinVar
PMID:25741868 PMID:31175426 NCBI chr17:23,682,584...23,684,026
Ensembl chr17:23,682,584...23,684,026
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 117 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn2 clarin 2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 117 OMIM
ClinVar
PMID:33496845 NCBI chr 5:45,453,751...45,464,149
Ensembl chr 5:45,453,751...45,464,149
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 119 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spata5l1 spermatogenesis associated 5-like 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 119 OMIM
ClinVar
PMID:25741868 PMID:34626583 NCBI chr 2:122,630,625...122,636,478
Ensembl chr 2:122,630,646...122,632,930
JBrowse link
autosomal recessive nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2b2 ATPase, Ca++ transporting, plasma membrane 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 6:113,743,831...114,042,613
Ensembl chr 6:113,743,831...114,042,613
JBrowse link
G Cdh23 cadherin 23 (otocadherin) ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal recessive 12
OMIM:601386
ClinVar Annotator: match by OMIM:601386
OMIM
ClinVar
MouseDO
PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr10:60,302,748...60,696,513
Ensembl chr10:60,302,748...60,696,490
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar NCBI chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
JBrowse link
G Gm17455 predicted gene, 17455 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr10:60,399,493...60,403,559
Ensembl chr10:60,399,726...60,403,559
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 chr10:60,277,628...60,302,600
Ensembl chr10:60,277,627...60,302,597
JBrowse link
autosomal recessive nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gipc3 GIPC PDZ domain containing family, member 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 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 chr10:81,335,262...81,343,620
Ensembl chr10:81,335,265...81,343,266
JBrowse link
autosomal recessive nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Catsper2 cation channel, sperm associated 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:11687802 PMID:21681106 PMID:25741868 PMID:26011646 NCBI chr 2:121,391,633...121,414,598
Ensembl chr 2:121,392,631...121,413,792
JBrowse link
G Ckmt1 creatine kinase, mitochondrial 1, ubiquitous ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr 2:121,357,773...121,363,737
Ensembl chr 2:121,357,714...121,363,737
JBrowse link
G Strc stereocilin ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal recessive 16
OMIM:603720
ClinVar Annotator: match by OMIM:603720
ClinVar Annotator: match by null
OMIM
ClinVar
MouseDO
PMID:11687802 PMID:18414213 PMID:21078986 PMID:21681106 PMID:22147502 More... NCBI chr 2:121,363,248...121,381,370
Ensembl chr 2:121,363,728...121,387,168
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 18 ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 More... NCBI chr 7:46,195,350...46,238,490
Ensembl chr 7:46,195,350...46,238,503
JBrowse link
autosomal recessive nonsyndromic deafness 18A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush1c USH1 protein network component harmonin ISO
IEA
IMP
ClinVar Annotator: match by term: Deafness, autosomal recessive 18A
OMIM:602092
OMIM
ClinVar
MouseDO
RGD
PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 More... RGD:8694458 NCBI chr 7:46,195,350...46,238,490
Ensembl chr 7:46,195,350...46,238,503
JBrowse link
autosomal recessive nonsyndromic deafness 18B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otog otogelin ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal recessive 18b
OMIM:614945
ClinVar Annotator: match by OMIM:614945
OMIM
ClinVar
MouseDO
PMID:10655058 PMID:23122587 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr 7:46,240,987...46,311,434
Ensembl chr 7:46,240,987...46,311,434
JBrowse link
autosomal recessive nonsyndromic deafness 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryl1 crystallin, lambda 1 ISO ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
ClinVar PMID:15994881 PMID:17041943 PMID:18324688 PMID:20236118 PMID:28492532 NCBI chr14:57,275,034...57,398,483
Ensembl chr14:57,274,993...57,398,529
JBrowse link
G Eef1akmt1 EEF1A alpha lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr14:57,549,595...57,571,582
Ensembl chr14:57,549,597...57,571,612
JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr14:57,034,460...57,058,030
Ensembl chr14:57,034,460...57,058,100
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO
IEA
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
OMIM:220290
ClinVar Annotator: match by OMIM:220290
OMIM
ClinVar
MouseDO
PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 PMID:2706105 More... NCBI chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
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 4:127,325,235...127,330,836
Ensembl chr 4:127,325,235...127,330,844
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 4:127,341,109...127,354,139
Ensembl chr 4:127,351,086...127,354,081
JBrowse link
G Gjb6 gap junction protein, beta 6 ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
OMIM:220290
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
MouseDO
PMID:10610709 PMID:11017065 PMID:11807148 PMID:11896458 PMID:12172394 More... NCBI chr14:57,123,301...57,133,611
Ensembl chr14:57,123,303...57,133,611
JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr14:57,424,064...57,517,936
Ensembl chr14:57,424,062...57,517,936
JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr14:57,524,829...57,543,166
Ensembl chr14:57,524,777...57,543,166
JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr14:57,577,521...57,668,232
Ensembl chr14:57,577,521...57,665,430
JBrowse link
autosomal recessive nonsyndromic deafness 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:2706105 PMID:2956987 PMID:8789457 PMID:9139825 PMID:9285800 More... NCBI chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
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 chr14:57,123,301...57,133,611
Ensembl chr14:57,123,303...57,133,611
JBrowse link
autosomal recessive nonsyndromic deafness 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal recessive 2
ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2
OMIM:600060
ClinVar Annotator: match by OMIM:600060
ClinVar Annotator: match by null
OMIM
ClinVar
MouseDO
PMID:3130723 PMID:7568224 PMID:7870171 PMID:7951250 PMID:8900236 More... NCBI chr 7:98,051,054...98,119,522
Ensembl chr 7:98,051,060...98,119,524
JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2 ClinVar NCBI chr 9:8,543,867...8,680,752
Ensembl chr 9:8,544,142...8,680,741
JBrowse link
autosomal recessive nonsyndromic deafness 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: 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 9:42,329,622...42,401,690
Ensembl chr 9:42,329,619...42,399,929
JBrowse link
autosomal recessive nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otoa otoancorin ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal recessive 22
OMIM:607039
ClinVar Annotator: match by OMIM:607039
ClinVar Annotator: match by null
OMIM
ClinVar
MouseDO
PMID:11972037 PMID:19888295 PMID:23173898 PMID:23690975 PMID:24033266 More... NCBI chr 7:121,083,424...121,163,093
Ensembl chr 7:121,081,650...121,163,097
JBrowse link
autosomal recessive nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh15 protocadherin 15 ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal recessive 23
OMIM:609533
ClinVar Annotator: match by OMIM:609533
OMIM
ClinVar
MouseDO
PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 PMID:15028842 More... NCBI chr10:73,096,277...74,649,831
Ensembl chr10:73,099,342...74,649,737
JBrowse link
autosomal recessive nonsyndromic deafness 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rdx radixin ISO ClinVar Annotator: match by term: 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 9:52,047,150...52,088,738
Ensembl chr 9:52,047,173...52,100,463
JBrowse link
autosomal recessive nonsyndromic deafness 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grxcr1 glutaredoxin, cysteine rich 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 chr 5:68,031,835...68,166,398
Ensembl chr 5:68,031,835...68,166,398
JBrowse link
autosomal recessive nonsyndromic deafness 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gab1 growth factor receptor bound protein 2-associated protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 26 ClinVar
OMIM
PMID:11101839 PMID:25741868 PMID:29408807 NCBI chr 8:80,764,431...80,880,519
Ensembl chr 8:80,764,438...80,880,519
JBrowse link
autosomal recessive nonsyndromic deafness 28 term browser