sensorineural hearing loss - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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:	sensorineural hearing loss	go back to main search page
Accession:	DOID:10003	browse the term
Definition:	An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem. (DO)
Synonyms:	exact_synonym:	central hearing loss; cochlear hearing loss; perceptive deafness; perceptive hearing loss; perceptive hearing loss or deafness; sensorineural deafness; sensorineural hearing loss disorder; sensory hearing loss
	narrow_synonym:	CONGENITAL SENSORINEURAL HEARING IMPAIRMENT; autosomal dominant deafness with peripheral neuropathy; bilateral sensorineural hearing impairment; progressive sensorineural hearing impairment
	primary_id:	MESH:D006319
	xref:	EFO:1001176; ICD10CM:H90.5; ICD9CM:389.1; NCI:C26739; NCI:C34662
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (625) Mouse (619) Human (23938) Chinchilla (543) Bonobo (575) Dog (584) Squirrel (550) Pig (580) Green Monkey (569) Naked Mole-rat (539) All
Genes (584)

sensorineural hearing loss

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin beta

CTD Direct Evidence: marker/mechanism

NCBI chr 6:12,421,006...12,424,449
Ensembl chr 6:12,418,932...12,462,845

G

ADP-ribosylserine hydrolase

ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment

NCBI chr15:6,116,516...6,122,330
Ensembl chr15:6,116,500...6,123,798

G

AFG3 like matrix AAA peptidase subunit 2

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr 7:77,749,029...77,787,466
Ensembl chr 7:77,737,808...77,787,472

G

apoptosis inducing factor mitochondria associated 1

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

PMID:25590979 PMID:25741868 PMID:28492532 PMID:28967629 PMID:31523922

NCBI chr X:101,275,027...101,307,551
Ensembl chr X:101,275,017...101,307,367

G

apolipoprotein E

susceptibility

DNA:polymorphism:exon:

NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440

G

ATPase Na+/K+ transporting subunit alpha 1

protein:decreased expression:cochlea:

NCBI chr17:53,828,482...53,847,043
Ensembl chr17:53,813,976...53,847,167

G

ATPase Na+/K+ transporting subunit beta 1

protein:decreased expression:cochlea:

NCBI chr 7:29,464,132...29,487,124
Ensembl chr 7:29,464,132...29,487,947

G

B cell receptor associated protein 31

DNA:mutation, deletion:exon:p.Q33X (human)

NCBI chr X:121,515,417...121,550,373
Ensembl chr X:121,507,084...121,545,263

G

brain derived neurotrophic factor

mRNA,protein:increased expression:inferior colliculus:

NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480

G

BRF1 RNA polymerase III transcription initiation factor subunit

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr 8:72,588,578...72,632,259
Ensembl chr 8:72,588,693...72,632,263

G

barttin CLCNK type accessory subunit beta

Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon

NCBI chr 5:54,225,393...54,239,305
Ensembl chr 5:54,225,389...54,237,110

G

capping protein regulator and myosin 1 linker 1

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr35:23,268,438...23,581,794
Ensembl chr35:23,268,723...23,581,403

G

catalase

NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447

G

cell division cycle 14A

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr 6:49,429,675...49,678,376
Ensembl chr 6:49,497,939...49,693,665

G

cadherin related 23

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

PMID:22899989 PMID:25741868 PMID:25963016 PMID:28492532 PMID:30303587

NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131

G

centrosomal protein 78

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532

NCBI chr 1:80,437,902...80,469,383
Ensembl chr 1:80,438,695...80,469,350

G

chloride voltage-gated channel 3

ClinVar Annotator: match by term: Progressive sensorineural hearing impairment

NCBI chr25:20,528,708...20,616,687
Ensembl chr25:20,528,699...20,615,070

G

claudin 14

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr31:31,677,410...31,725,794
Ensembl chr31:31,677,733...31,678,446

G

cochlin

ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment

PMID:16261627 PMID:19461658 PMID:25780252 PMID:28492532 PMID:30311386 More...

NCBI chr 8:10,215,101...10,230,017
Ensembl chr 8:10,214,536...10,233,550

G

collagen type XI alpha 1 chain

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr 6:47,425,387...47,622,189
Ensembl chr 6:47,425,307...47,621,012

G

collagen type XI alpha 2 chain

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814

G

collagen type II alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733

G

collagen type IX alpha 1 chain

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr12:32,763,782...32,847,456
Ensembl chr12:32,764,496...32,847,574

G

collagen type IX alpha 3 chain

ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment

PMID:25741868 PMID:28492532

NCBI chr24:46,653,400...46,669,183
Ensembl chr24:46,662,376...46,667,884

G

cytochrome c oxidase assembly factor COX18

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr13:61,875,507...61,888,068
Ensembl chr13:61,877,194...61,888,387

G

dopamine beta-hydroxylase

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr 9:50,004,806...50,024,130
Ensembl chr 9:50,004,806...50,024,130

G

diaphanous related formin 1

susceptibility

autosomal dominant nonsyndromic sensorineural deafness 1, OMIM:124900;DNA:splice-site mutation

NCBI chr 2:36,483,781...36,581,390
Ensembl chr 2:36,485,571...36,581,320

G

MHC class I DLA-88

associated with Behcet Syndrome; DNA:polymorphism:cds:HLA-B51 (human)

NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690

G

dermatopontin

ClinVar Annotator: match by term: Progressive sensorineural hearing impairment

NCBI chr 7:29,830,415...29,855,479
Ensembl chr 7:29,830,415...29,857,061

G

endothelin 3

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr24:44,024,553...44,054,727
Ensembl chr24:44,033,419...44,054,050

G

endothelin receptor type B

DNA:mutation:cds:

NCBI chr22:31,415,324...31,438,772
Ensembl chr22:31,417,308...31,437,587

G

ERCC excision repair 6, chromatin remodeling factor

NCBI chr28:1,358,383...1,432,276
Ensembl chr28:1,361,107...1,427,162

G

ERCC excision repair 8, CSA ubiquitin ligase complex subunit

associated with Cockayne Syndrome

NCBI chr 2:47,502,777...47,559,012
Ensembl chr 2:47,503,762...47,558,889

G

espin

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676

G

EYA transcriptional coactivator and phosphatase 4

DNA:deletion:introns, exon (human)

NCBI chr 1:26,208,514...26,514,601
Ensembl chr 1:26,272,448...26,514,201

G

coagulation factor II, thrombin

no_association

DNA:transition: :20210G>A(human)
associated with Stroke
DNA:transition: :20210G>A (human)

PMID:16572609 PMID:17334320 PMID:18636032

RGD:7387240 RGD:7387261 RGD:7387268

NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459

G

coagulation factor V

no_association

DNA:SNP: :1691G>A (human)
DNA:mutation

PMID:16015153 PMID:16572609

RGD:7387240 RGD:7387260

NCBI chr 7:28,999,481...29,069,603
Ensembl chr 7:28,999,512...29,069,296

G

Fas associated via death domain

CTD Direct Evidence: marker/mechanism

NCBI chr18:48,087,447...48,094,497

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr18:48,382,819...48,388,453
Ensembl chr18:48,383,222...48,389,009

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment

PMID:19461658 PMID:30311386 PMID:34652575

NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621

G

forkhead box P4

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

PMID:25741868 PMID:28492532

NCBI chr12:10,239,402...10,292,892
Ensembl chr12:10,258,166...10,291,125

G

GRB2 associated binding protein 1

ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment

NCBI chr19:10,269...117,808
Ensembl chr19:12,616...156,694

G

gamma-aminobutyric acid type A receptor subunit alpha1

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr 4:49,006,981...49,065,205
Ensembl chr 4:49,009,495...49,062,581

G

gamma-aminobutyric acid type A receptor subunit rho2

ClinVar Annotator: match by term: Progressive sensorineural hearing impairment

NCBI chr12:48,492,607...48,537,961
Ensembl chr12:48,431,379...48,538,037

G

growth arrest specific 2

NCBI chr21:44,277,996...44,406,210
Ensembl chr21:44,286,531...44,405,060

G

GATA binding protein 3

HDR Syndrome/Barakat Syndrome, OMIM:146255 DNA:point_mutation, deletion, deletion:CDS:Arg277Ter, 49bpDELnt465-513, 12bpDELnt946-957

NCBI chr 2:28,068,143...28,098,445
Ensembl chr 2:28,069,051...28,087,760

G

GRIP and coiled-coil domain containing 2

ClinVar Annotator: match by term: Progressive sensorineural hearing impairment

NCBI chr10:35,379,055...35,431,500
Ensembl chr10:35,379,030...35,431,457

G

geranylgeranyl diphosphate synthase 1

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

PMID:25741868 PMID:32403198

NCBI chr 4:4,590,302...4,602,307
Ensembl chr 4:4,592,262...4,602,077

G

GIPC PDZ domain containing family member 3

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

PMID:23510777 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32747562 More...

NCBI chr20:55,833,876...55,837,621

G

gap junction protein beta 2

ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Progressive sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder

PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More...

NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289

G

gap junction protein beta 3

ClinVar Annotator: match by term: Deafness, autosomal dominant, with peripheral neuropathy

PMID:11309368 PMID:12165562 PMID:15276679 PMID:19050930 PMID:19197336 More...

NCBI chr15:7,175,010...7,177,145

G

gap junction protein gamma 3

NCBI chr 6:9,648,769...9,656,507
Ensembl chr 6:9,648,608...9,656,181

G

G protein signaling modulator 2

DNA:nonsense mutation:cds:p.R127X(human)
DNA:nonsense mutation:exon:c.1684C>T(p.Q562X(human)

PMID:20602914 PMID:21348867

RGD:11552574 RGD:11552577

NCBI chr 6:42,828,611...42,878,334
Ensembl chr 6:42,824,455...42,868,690

G

grainyhead like transcription factor 2

ClinVar Annotator: match by term: Progressive sensorineural hearing impairment

NCBI chr13:3,204,898...3,362,533
Ensembl chr13:3,204,925...3,362,096

G

gasdermin E

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr14:38,210,975...38,286,729
Ensembl chr14:38,211,540...38,292,280

G

histidyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

PMID:25741868 PMID:28492532 PMID:31827252

NCBI chr 2:35,843,611...35,851,257
Ensembl chr 2:35,843,706...35,850,760

G

MHC class II DLA DRB1 beta chain

susceptibility

DNA:polymorphism: :DRB1*0301(human)

NCBI chr12:2,151,409...2,164,564

G

interferon gamma

associated with Hearing Loss, Sensorineural;protein:increased expression:serum:

PMID:15937357 PMID:19684145

RGD:7987908 RGD:8142347

NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698

G

interleukin 2

NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394

G

immunoglobulin like domain containing receptor 1

ClinVar Annotator: match by term: Congenital sensorineural hearing impairment

PMID:21255762 PMID:25741868 PMID:28492532

NCBI chr33:25,207,537...25,238,071
Ensembl chr33:25,207,572...25,237,949

G

iroquois homeobox 5

CTD Direct Evidence: marker/mechanism

NCBI chr 2:60,957,353...60,978,782
Ensembl chr 2:60,968,193...61,041,385

G

integrin subunit alpha 2

DNA:snp:cds:c.807C>T (rs1126643) (human)

NCBI chr 4:62,170,137...62,268,962
Ensembl chr 4:62,170,452...62,268,983

G

lysyl-tRNA synthetase 1

ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder

PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 PMID:28496994 More...

NCBI chr 5:75,172,976...75,188,197
Ensembl chr 5:75,173,032...75,188,197

G

potassium inwardly rectifying channel subfamily J member 10

protein:decreased expression:cochlea:

NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813

G

potassium voltage-gated channel subfamily Q member 4

ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment

PMID:19461658 PMID:27081546 PMID:30311386 PMID:34652575

NCBI chr15:2,203,938...2,257,152
Ensembl chr15:2,205,276...2,242,093

G

klotho

NCBI chr25:7,154,359...7,201,744
Ensembl chr25:7,156,620...7,199,558

G

leucyl-tRNA synthetase 1

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

PMID:25741868 PMID:28492532

NCBI chr 2:40,544,031...40,619,268
Ensembl chr 2:40,544,210...40,635,281

G

LIM homeobox transcription factor 1 alpha

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr38:17,958,366...18,111,155
Ensembl chr38:17,956,961...18,109,049

G

LDL receptor related protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr36:13,910,450...14,107,081
Ensembl chr36:13,911,865...14,107,546

G

mannose binding lectin 1

susceptibility

DNA:SNP:cds:

NCBI chr 4:29,419,886...29,424,377

G

melanocyte inducing transcription factor

ClinVar Annotator: match by term: Congenital sensorineural hearing impairment

PMID:8659547 PMID:20127975 PMID:20478267 PMID:22320238 PMID:24194866 More...

NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578

G

mitochondrial ribosomal protein S7

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

PMID:25741868 PMID:28492532

NCBI chr 9:5,231,612...5,235,383
Ensembl chr 9:5,231,920...5,235,383

G

mitochondrially encoded cytochrome b

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr MT:14,183...15,322
Ensembl chr MT:14,183...15,322

G

myosin heavy chain 14

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr 1:106,371,952...106,460,388
Ensembl chr 1:106,371,939...106,458,901

G

myosin heavy chain 9

disease_progression

associated with MYH9-Related Disorders;DNA:mutations:cds:

NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953

G

myosin XVA

ClinVar Annotator: match by term: Congenital sensorineural hearing impairment

PMID:9536098 PMID:17546645 PMID:17576681 PMID:24033266 PMID:24875298 More...

NCBI chr 5:41,369,484...41,421,303
Ensembl chr 5:41,370,509...41,392,881

G

myosin IA

DFNA48, OMIM:607841

NCBI chr10:1,159,816...1,194,452
Ensembl chr10:1,159,812...1,193,153

G

myosin IF

ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment

NCBI chr20:53,054,583...53,088,593
Ensembl chr20:53,054,585...53,089,115

G

myosin IIIA

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

PMID:12032315 PMID:23990876 PMID:25741868 PMID:28492532 PMID:32006683 More...

NCBI chr 2:7,455,125...7,695,483
Ensembl chr 2:7,455,625...7,696,043

G

myosin VI

DFNA22, OMIM:606346, DNA:point mutation:exon:C442Y

NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724

G

myosin VIIA

ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder

PMID:16449806 PMID:19461658 PMID:24033266 PMID:25741868 PMID:28492532 More...

NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279

G

asparaginyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr21:20,277,707...20,413,624
Ensembl chr21:20,277,507...20,606,736

G

nuclear receptor coactivator 3

ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment

PMID:19461658 PMID:30311386 PMID:33326993 PMID:34652575

Ensembl chr24:34,585,305...34,728,674
Ensembl chr24:34,585,305...34,728,674

G

neurofilament light chain

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

PMID:12477167 PMID:12566280 PMID:19158810 PMID:20301384 PMID:21840889 More...

NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224

G

nerve growth factor

protein:decreased expression:serum:

NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607

G

otoferlin

ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment

PMID:12525542 PMID:16199547 PMID:16371502 PMID:18381613 PMID:19250381 More...

NCBI chr17:20,518,480...20,619,713
Ensembl chr17:20,518,813...20,614,750

G

purinergic receptor P2X 2

ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment

PMID:19461658 PMID:28492532 PMID:30311386 PMID:34652575

NCBI chr26:480,370...485,527
Ensembl chr26:482,425...485,502

G

peroxisomal biogenesis factor 6

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

PMID:19877282 PMID:25079577 PMID:25741868 PMID:28492532 PMID:32399598

NCBI chr12:11,503,184...11,514,977
Ensembl chr12:11,503,240...11,514,929

G

phosphate regulating endopeptidase X-linked

DNA:mutations:cds:

NCBI chr X:17,830,714...18,038,755
Ensembl chr X:17,829,158...18,035,775

G

PHD finger protein 7

ClinVar Annotator: match by term: Progressive sensorineural hearing impairment

NCBI chr20:37,343,167...37,355,166
Ensembl chr20:37,343,167...37,354,761

G

plastin 1

ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment

NCBI chr23:38,243,631...38,347,195
Ensembl chr23:38,243,024...38,347,202

G

phospholipid scramblase 4

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr23:41,415,151...41,453,727
Ensembl chr23:41,415,079...41,450,001

G

POU class 4 homeobox 3

ClinVar Annotator: match by term: Congenital sensorineural hearing impairment

NCBI chr 2:40,762,499...40,764,131
Ensembl chr 2:40,762,477...40,765,161

G

prickle planar cell polarity protein 3

ClinVar Annotator: match by term: Progressive sensorineural hearing impairment

NCBI chr X:42,276,316...42,285,428
Ensembl chr X:42,275,900...42,285,321

G

protein kinase C beta

ClinVar Annotator: match by term: Progressive sensorineural hearing impairment

NCBI chr 6:21,742,970...22,064,360
Ensembl chr 6:21,742,973...22,065,185

G

prostaglandin D2 synthase

protein:decreased expression:cochlea:

NCBI chr 9:48,647,334...48,650,608
Ensembl chr 9:48,646,255...48,669,814

G

protein tyrosine phosphatase receptor type Q

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr15:22,771,653...23,017,694
Ensembl chr15:22,825,348...23,013,762

G

RAB33A, member RAS oncogene family

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

PMID:25590979 PMID:25741868 PMID:28492532 PMID:28967629 PMID:31523922

NCBI chr X:101,311,752...101,322,825
Ensembl chr X:101,312,611...101,322,689

G

ribonucleotide reductase regulatory TP53 inducible subunit M2B

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

PMID:8279480 PMID:25741868 PMID:28492532 PMID:32827185

NCBI chr13:3,774,725...3,838,576
Ensembl chr13:3,799,025...3,837,934

G

sterol carrier protein 2

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

PMID:25741868 PMID:28492532 PMID:33713422

NCBI chr 5:55,860,053...55,971,657
Ensembl chr 5:55,860,549...55,964,014

G

semaphorin 3D

ClinVar Annotator: match by term: Progressive sensorineural hearing impairment

NCBI chr18:24,254,113...24,429,767
Ensembl chr18:24,262,125...24,394,155

G

solute carrier family 12 member 2

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

PMID:25741868 PMID:28492532 PMID:34374074

NCBI chr11:17,143,943...17,256,248
Ensembl chr11:17,143,943...17,253,695

G

solute carrier family 25 member 4

ClinVar Annotator: match by term: Progressive sensorineural hearing impairment

PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 More...

NCBI chr16:45,454,660...45,458,606
Ensembl chr16:45,411,810...45,542,162

G

solute carrier family 26 member 4

CTD Direct Evidence: marker/mechanism

PMID:15279074 PMID:16053392 PMID:17322586

NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212

G

solute carrier family 26 member 5

mRNA:decreased expression:organ of Corti (mouse)

NCBI chr18:16,783,795...16,841,946
Ensembl chr18:16,788,759...16,839,940

G

solute carrier family 52 member 2

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr13:37,779,896...37,786,653
Ensembl chr13:37,783,562...37,786,621

G

solute carrier family 7 member 14

NCBI chr34:34,953,442...35,065,447
Ensembl chr34:34,958,156...35,012,544

G

solute carrier family 7 member 8

OMIM:304400

NCBI chr 8:3,430,208...3,479,985
Ensembl chr 8:3,430,208...3,479,985

G

SLIT and NTRK like family member 6

OMIM:304400

NCBI chr22:37,911,533...37,918,273
Ensembl chr22:37,912,612...37,925,177

G

superoxide dismutase 2

protein:increased activity:cochlea:

NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706

G

SRY-box transcription factor 3

ClinVar Annotator: match by term: sensorineural hearing loss disorder

PMID:23757202 PMID:25741868 PMID:28492532

NCBI chr X:110,361,354...110,363,458
Ensembl chr X:110,362,124...110,363,458

G

SPNS lysolipid transporter 2, sphingosine-1-phosphate

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr 5:30,494,355...30,527,669

G

SRC proto-oncogene, non-receptor tyrosine kinase

treatment

NCBI chr24:25,982,499...26,019,748
Ensembl chr24:25,999,048...26,018,077

G

stereocilin

NCBI chr30:10,444,726...10,459,058
Ensembl chr30:10,444,793...10,460,785

G

syntaxin 4

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

PMID:30311386 PMID:36355422

NCBI chr 6:17,184,044...17,189,481
Ensembl chr 6:17,184,399...17,189,370

G

T-box transcription factor 1

DNA:frameshift mutation:CDS:p.G387AfsX73 (human)

NCBI chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784

G

transcription factor 19

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr12:855,321...859,109
Ensembl chr12:854,611...858,582

G

tectorin alpha

ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder

PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 More...

NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147

G

teneurin transmembrane protein 1

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr X:95,766,173...96,565,995
Ensembl chr X:95,769,881...96,550,190

G

transcription factor A, mitochondrial

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr 4:10,585,320...10,600,664
Ensembl chr 4:10,585,480...10,598,058

G

transmembrane channel like 1

ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment

NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369

G

transmembrane and coiled-coil domains 1

ClinVar Annotator: match by term: sensorineural hearing loss disorder

PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227

NCBI chr38:17,579,540...17,630,701
Ensembl chr38:17,579,607...17,630,283

G

transmembrane inner ear

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:30303587 More...

NCBI chr20:42,052,607...42,061,424
Ensembl chr20:42,053,817...42,061,262

G

transmembrane serine protease 3

DFNB10, OMIM:605316, DFNB8 OMIM:601072

NCBI chr31:36,706,229...36,730,444
Ensembl chr31:36,707,723...36,730,520

G

tenascin C

ClinVar Annotator: match by term: Progressive sensorineural hearing impairment

NCBI chr11:69,077,532...69,169,673
Ensembl chr11:69,077,535...69,170,281

G

tumor necrosis factor

associated with Hearing Loss, Sensorineural;protein:increased expression:serum:

PMID:16988499 PMID:19684145 PMID:23165380

RGD:7387303 RGD:7394704 RGD:8142347

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

DNA topoisomerase III alpha

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr 5:41,262,820...41,290,101
Ensembl chr 5:41,263,017...41,290,100

G

USH1 protein network component harmonin

NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430

G

usherin

ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder

PMID:2564938 PMID:10729113 PMID:10909849 PMID:15015129 PMID:16963483 More...

NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444

G

ubiquitin specific peptidase 31

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr 6:22,622,099...22,688,398
Ensembl chr 6:22,622,099...22,690,121

G

wolframin ER transmembrane glycoprotein

ClinVar Annotator: match by term: Sensorineural hearing loss

PMID:12107816 PMID:22238590 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827

G

whirlin

NCBI chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977

G

zinc finger and SCAN domain containing 10

ClinVar Annotator: match by term: Sensorineural hearing loss disorder

NCBI chr 6:38,111,436...38,115,722
Ensembl chr 6:38,111,507...38,115,367

aminoglycoside-induced deafness

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrially encoded cytochrome c oxidase I

ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY

PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 More...

NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1

ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY

PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More...

NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703

G

tRNA mitochondrial 2-thiouridylase

ClinVar Annotator: match by term: Aminoglycoside-induced deafness | ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of

PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 More...

NCBI chr10:19,841,813...19,859,514
Ensembl chr10:19,841,854...19,859,470

Athabaskan brainstem dysgenesis syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

homeobox A1

ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: Navajo brainstem syndrome

PMID:16155570 PMID:18412118 PMID:25741868 PMID:28492532

NCBI chr14:40,267,033...40,272,212
Ensembl chr14:40,267,528...40,269,681

G

homeobox A2

ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Navajo brainstem syndrome

NCBI chr14:40,273,992...40,276,975
Ensembl chr14:40,274,469...40,276,239

Auditory Neuropathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apoptosis inducing factor mitochondria associated 1

ClinVar Annotator: match by term: Auditory neuropathy

NCBI chr X:101,275,027...101,307,551
Ensembl chr X:101,275,017...101,307,367

G

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Auditory neuropathy

NCBI chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032

G

cadherin 2

ClinVar Annotator: match by term: Auditory neuropathy

NCBI chr 7:60,736,760...60,950,477
Ensembl chr 7:60,736,760...60,951,034

G

ferredoxin reductase

ClinVar Annotator: match by term: Auditory dys-synchrony

PMID:25741868 PMID:28965846 PMID:29040572

NCBI chr 9:5,567,411...5,577,427
Ensembl chr 9:5,567,328...5,577,277

G

kinesin family member 5A

ClinVar Annotator: match by term: Auditory neuropathy

NCBI chr10:1,637,007...1,666,790
Ensembl chr10:1,636,932...1,664,767

G

mitofusin 2

ClinVar Annotator: match by term: Auditory neuropathy

NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225

G

myosin VIIA

ClinVar Annotator: match by term: Auditory neuropathy

NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279

G

neurofilament light chain

ClinVar Annotator: match by term: Auditory neuropathy

NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224

G

notch receptor 3

ClinVar Annotator: match by term: Auditory dys-synchrony | ClinVar Annotator: match by term: Auditory neuropathy

NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219

G

OPA1 mitochondrial dynamin like GTPase

ClinVar Annotator: match by term: Auditory neuropathy

NCBI chr23:52,068,123...52,154,410
Ensembl chr23:52,068,118...52,151,593

G

otoferlin

ClinVar Annotator: match by term: Auditory dys-synchrony | ClinVar Annotator: match by term: Auditory neuropathy

PMID:18381613 PMID:19250381 PMID:22575033 PMID:26818607 PMID:28492532

NCBI chr17:20,518,480...20,619,713
Ensembl chr17:20,518,813...20,614,750

G

RAB33A, member RAS oncogene family

ClinVar Annotator: match by term: Auditory neuropathy

NCBI chr X:101,311,752...101,322,825
Ensembl chr X:101,312,611...101,322,689

G

solute carrier family 52 member 3

ClinVar Annotator: match by term: Auditory neuropathy

PMID:25741868 PMID:28492532 PMID:32579787

NCBI chr24:20,127,527...20,141,070
Ensembl chr24:20,127,520...20,156,003

G

translocase of inner mitochondrial membrane 8A

ClinVar Annotator: match by term: Auditory neuropathy

NCBI chr X:75,267,437...75,270,288
Ensembl chr X:75,267,450...75,270,288

G

tumor protein p63

ClinVar Annotator: match by term: Auditory neuropathy

NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046

G

transient receptor potential cation channel subfamily V member 4

ClinVar Annotator: match by term: Auditory neuropathy

NCBI chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165

G

twinkle mtDNA helicase

ClinVar Annotator: match by term: Auditory neuropathy

NCBI chr28:13,672,772...13,680,732
Ensembl chr28:13,676,304...13,680,044

G

wolframin ER transmembrane glycoprotein

ClinVar Annotator: match by term: Auditory neuropathy

NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827

Auditory Neuropathy and Optic Atrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ferredoxin reductase

ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY | ClinVar Annotator: match by term: FDXR-related condition

PMID:6766943 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28965846 More...

NCBI chr 9:5,567,411...5,577,427
Ensembl chr 9:5,567,328...5,577,277

autosomal dominant auditory neuropathy 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

diaphanous related formin 3

ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 | ClinVar Annotator: match by term: DIAPH3-related condition

PMID:9536098 PMID:17576681 PMID:20624953 PMID:21220648 PMID:25741868 More...

NCBI chr22:15,573,485...16,078,580
Ensembl chr22:15,573,629...16,079,031

Autosomal Dominant Auditory Neuropathy 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase phospholipid transporting 11A

NCBI chr22:60,302,098...60,431,070
Ensembl chr22:60,302,309...60,428,080

autosomal dominant auditory neuropathy 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane protein 43

ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3

PMID:18230648 PMID:20435227 PMID:21391237 PMID:21636032 PMID:23161701 More...

NCBI chr20:4,281,815...4,298,634
Ensembl chr20:4,281,845...4,297,069

autosomal dominant cerebellar ataxia, deafness and narcolepsy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DNA methyltransferase 1

ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy

PMID:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:17576681 More...

NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029

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

dentin sialophosphoprotein

ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1

PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 More...

NCBI chr32:11,017,440...11,022,780

Autosomal Dominant Deafness 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin heavy chain 14

ClinVar Annotator: match by term: Deafness, autosomal dominant 4

PMID:15015131 PMID:15845534 PMID:16222661 PMID:20533261 PMID:23967202 More...

NCBI chr 1:106,371,952...106,460,388
Ensembl chr 1:106,371,939...106,458,901

autosomal dominant nonsyndromic deafness

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

atonal bHLH transcription factor 1

ClinVar Annotator: match by term: Dominant progressive sensorineural hearing loss

PMID:25741868 PMID:33111345

NCBI chr32:16,807,217...16,809,294
Ensembl chr32:16,807,336...16,808,406

G

ATPase plasma membrane Ca2+ transporting 2

ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA

NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474

G

diablo IAP-binding mitochondrial protein

ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA

NCBI chr26:7,125,320...7,144,884
Ensembl chr26:7,125,405...7,144,308

G

GREB1 like retinoic acid receptor coactivator

ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA

PMID:25741868 PMID:32585897

NCBI chr 7:66,489,124...66,758,207
Ensembl chr 7:66,503,999...66,639,013

G

myosin VI

ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA

NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724

G

phosphodiesterase 1C

ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA

NCBI chr14:44,250,612...44,543,818
Ensembl chr14:44,145,534...44,644,937

G

plastin 1

ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA | ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing impairment

PMID:30872814 PMID:31397523

NCBI chr23:38,243,631...38,347,195
Ensembl chr23:38,243,024...38,347,202

G

SIX homeobox 1

ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA

NCBI chr 8:35,676,705...35,679,534
Ensembl chr 8:35,676,479...35,679,534

autosomal dominant nonsyndromic deafness 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

diaphanous related formin 1

ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA | ClinVar Annotator: match by term: Deafness, autosomal dominant 1 | ClinVar Annotator: match by term: KONIGSMARK SYNDROME

PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More...

NCBI chr 2:36,483,781...36,581,390
Ensembl chr 2:36,485,571...36,581,320

G

endothelial cell surface expressed chemotaxis and apoptosis regulator

ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA

NCBI chr 2:34,763,814...34,773,491

G

eukaryotic translation initiation factor 4E binding protein 3

ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA

NCBI chr 2:35,742,811...35,744,749
Ensembl chr 2:35,618,282...35,744,734

autosomal dominant nonsyndromic deafness 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EYA transcriptional coactivator and phosphatase 4

ClinVar Annotator: match by term: Deafness, autosomal dominant 10 | ClinVar Annotator: match by term: EYA4-Related Disorders

PMID:9536098 PMID:11159937 PMID:15735644 PMID:16199547 PMID:17567890 More...

NCBI chr 1:26,208,514...26,514,601
Ensembl chr 1:26,272,448...26,514,201

autosomal dominant nonsyndromic deafness 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin VIIA

ClinVar Annotator: match by term: Deafness, autosomal dominant 11

PMID:3130723 PMID:8900236 PMID:9002678 PMID:9354784 PMID:9382091 More...

NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279

autosomal dominant nonsyndromic deafness 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tectorin alpha

ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12

PMID:9536098 PMID:9590290 PMID:10196713 PMID:10987647 PMID:11087000 More...

NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147

autosomal dominant nonsyndromic deafness 13

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type XI alpha 2 chain

ClinVar Annotator: match by term: Deafness, autosomal dominant 13

PMID:10581026 PMID:10677296 PMID:15372529 PMID:15558753 PMID:21204229 More...

NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814

autosomal dominant nonsyndromic deafness 15

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

POU class 4 homeobox 3

ClinVar Annotator: match by term: Deafness, autosomal dominant 15 | ClinVar Annotator: match by term: POU4F3-related condition

PMID:9506947 PMID:14585957 PMID:18228599 PMID:19462854 PMID:20434433 More...

NCBI chr 2:40,762,499...40,764,131
Ensembl chr 2:40,762,477...40,765,161

autosomal dominant nonsyndromic deafness 16

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

stereocilin

ClinVar Annotator: match by term: Deafness, autosomal dominant 16

PMID:22147502 PMID:24033266 PMID:25741868 PMID:26969326

NCBI chr30:10,444,726...10,459,058
Ensembl chr30:10,444,793...10,460,785

autosomal dominant nonsyndromic deafness 17

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin heavy chain 9

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 nonsyndromic sensorineural 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration | ClinVar Annotator: match by term: MYH9-related condition

PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:9536098 More...

NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953

autosomal dominant nonsyndromic deafness 20

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin gamma 1

ClinVar Annotator: match by term: Deafness, autosomal dominant 20

PMID:5654493 PMID:9536098 PMID:12519370 PMID:13680526 PMID:14684684 More...

NCBI chr 9:635,978...638,328
Ensembl chr 9:635,978...638,328

autosomal dominant nonsyndromic deafness 21

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RHO family interacting cell polarization regulator 2

ClinVar Annotator: match by term: Deafness, autosomal dominant 21

PMID:10764236 PMID:25741868 PMID:28492532 PMID:32631815

NCBI chr35:22,823,053...23,041,765
Ensembl chr35:22,824,106...23,041,743

autosomal dominant nonsyndromic deafness 22

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin VI

ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DFNA 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 22

PMID:9536098 PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 More...

NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724

autosomal dominant nonsyndromic deafness 23

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SIX homeobox 1

ClinVar Annotator: match by term: Deafness, autosomal dominant 23

PMID:10777717 PMID:12843324 PMID:15141091 PMID:16652090 PMID:16971658 More...

NCBI chr 8:35,676,705...35,679,534
Ensembl chr 8:35,676,479...35,679,534

autosomal dominant nonsyndromic deafness 25

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 17 member 8

ClinVar Annotator: match by term: Deafness, autosomal dominant 25

PMID:11115382 PMID:18674745 PMID:23967202 PMID:24033266 PMID:25741868 More...

NCBI chr15:39,443,790...39,489,988
Ensembl chr15:39,443,518...39,486,595

G

transient receptor potential cation channel subfamily V member 4

OMIM:605583

NCBI chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165

autosomal dominant nonsyndromic deafness 27

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RE1 silencing transcription factor

ClinVar Annotator: match by term: Deafness, autosomal dominant 27

PMID:25741868 PMID:28492532 PMID:29961578 PMID:34828371

NCBI chr13:49,041,082...49,062,596
Ensembl chr13:49,041,047...49,059,388

autosomal dominant nonsyndromic deafness 28

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

grainyhead like transcription factor 2

ClinVar Annotator: match by term: Deafness, autosomal dominant 28

PMID:12393799 PMID:23813623 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr13:3,204,898...3,362,533
Ensembl chr13:3,204,925...3,362,096

autosomal dominant nonsyndromic deafness 2A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium voltage-gated channel subfamily Q member 4

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 term: KCNQ4-related condition

PMID:8035838 PMID:9126484 PMID:9536098 PMID:10025409 PMID:10369879 More...

NCBI chr15:2,203,938...2,257,152
Ensembl chr15:2,205,276...2,242,093

autosomal dominant nonsyndromic deafness 2B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gap junction protein beta 3

ClinVar Annotator: match by term: Deafness, autosomal dominant 2b

PMID:9843210 PMID:16077902 PMID:19050930 PMID:21204020 PMID:23638949 More...

NCBI chr15:7,175,010...7,177,145

autosomal dominant nonsyndromic deafness 33

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase phospholipid transporting 11A

ClinVar Annotator: match by term: Deafness, autosomal dominant 33

PMID:25741868 PMID:30311386 PMID:35278131

NCBI chr22:60,302,098...60,431,070
Ensembl chr22:60,302,309...60,428,080

autosomal dominant nonsyndromic deafness 34

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NLR family pyrin domain containing 3

ClinVar Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammation

PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 More...

NCBI chr 8:251,776...313,290
Ensembl chr 8:253,407...313,059

autosomal dominant nonsyndromic deafness 36

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane channel like 1

ClinVar Annotator: match by term: Deafness, autosomal dominant 36 | ClinVar Annotator: match by term: TMC1-related condition

PMID:9536098 PMID:11850618 PMID:15354000 PMID:16134132 PMID:16199547 More...

NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369

G

usherin

ClinVar Annotator: match by term: Deafness, autosomal dominant 36

NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444

Autosomal Dominant Nonsyndromic Deafness 37

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type XI alpha 1 chain

susceptibility

ClinVar Annotator: match by term: Deafness, autosomal dominant 37

PMID:9536098 PMID:16199547 PMID:17576681 PMID:17999364 PMID:20513134 More...

NCBI chr 6:47,425,387...47,622,189
Ensembl chr 6:47,425,307...47,621,012

autosomal dominant nonsyndromic deafness 3A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gap junction protein beta 2

ClinVar Annotator: match by term: Deafness, autosomal dominant 3a

PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More...

NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289

G

gap junction protein beta 4

ClinVar Annotator: match by term: Deafness, autosomal dominant 3a

PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532

NCBI chr15:7,193,183...7,195,586

autosomal dominant nonsyndromic deafness 3B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

crystallin lambda 1

ClinVar Annotator: match by term: Deafness, autosomal dominant 3b

PMID:27480936 PMID:28492532

NCBI chr25:17,551,586...17,733,754
Ensembl chr25:17,562,926...17,733,630

G

EEF1A lysine methyltransferase 1

ClinVar Annotator: match by term: Deafness, autosomal dominant 3b

NCBI chr25:17,357,251...17,382,098
Ensembl chr25:17,357,328...17,381,821

G

gap junction protein alpha 3

ClinVar Annotator: match by term: Deafness, autosomal dominant 3b

NCBI chr25:17,986,270...18,004,344
Ensembl chr25:18,002,817...18,004,160

G

gap junction protein beta 2

ClinVar Annotator: match by term: Deafness, autosomal dominant 3b

NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289

G

gap junction protein beta 6

ClinVar Annotator: match by term: Deafness, autosomal dominant 3b

PMID:10471490 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 More...

NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605

G

intraflagellar transport 88

ClinVar Annotator: match by term: Deafness, autosomal dominant 3b

NCBI chr25:17,414,965...17,551,405
Ensembl chr25:17,414,965...17,551,266

G

interleukin 17D

ClinVar Annotator: match by term: Deafness, autosomal dominant 3b

NCBI chr25:17,386,815...17,390,315

G

exportin 4

ClinVar Annotator: match by term: Deafness, autosomal dominant 3b

NCBI chr25:17,230,401...17,352,600
Ensembl chr25:17,230,031...17,348,031

autosomal dominant nonsyndromic deafness 40

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

crystallin mu

ClinVar Annotator: match by term: Deafness, autosomal dominant 40

PMID:12471561 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 6:24,187,073...24,204,304
Ensembl chr 6:24,187,121...24,204,304

autosomal dominant nonsyndromic deafness 41

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

purinergic receptor P2X 2

ClinVar Annotator: match by term: Deafness, autosomal dominant 41 | ClinVar Annotator: match by term: P2RX2-related condition

PMID:12161595 PMID:23345450 PMID:24033266 PMID:24211385 PMID:25741868 More...

NCBI chr26:480,370...485,527
Ensembl chr26:482,425...485,502

autosomal dominant nonsyndromic deafness 44

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil domain containing 50

ClinVar Annotator: match by term: Deafness, autosomal dominant 44

PMID:12483295 PMID:17503326 PMID:24033266 PMID:24875298 PMID:25741868 More...

NCBI chr34:23,168,594...23,243,221
Ensembl chr34:23,168,525...23,258,497

autosomal dominant nonsyndromic deafness 48

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin IA

ClinVar Annotator: match by term: Deafness, autosomal dominant 48

PMID:12736868 PMID:24033266 PMID:24616153 PMID:25741868

NCBI chr10:1,159,816...1,194,452
Ensembl chr10:1,159,812...1,193,153

autosomal dominant nonsyndromic deafness 4A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CEA cell adhesion molecule 16, tectorial membrane component

OMIM:600652

NCBI chr 1:110,652,362...110,661,173
Ensembl chr 1:110,652,584...110,660,334

G

myosin heavy chain 14

ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 4A | ClinVar Annotator: match by term: Deafness, autosomal dominant 4A | ClinVar Annotator: match by term: MYH14-related condition

PMID:15015131 PMID:15845534 PMID:16222661 PMID:20533261 PMID:23967202 More...

NCBI chr 1:106,371,952...106,460,388
Ensembl chr 1:106,371,939...106,458,901

autosomal dominant nonsyndromic deafness 4B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CEA cell adhesion molecule 16, tectorial membrane component

ClinVar Annotator: match by term: Deafness, autosomal dominant 4b

PMID:7655461 PMID:21368133 PMID:24033266 PMID:25589040 PMID:25741868 More...

NCBI chr 1:110,652,362...110,661,173
Ensembl chr 1:110,652,584...110,660,334

autosomal dominant nonsyndromic deafness 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gasdermin E

ClinVar Annotator: match by term: Deafness, autosomal dominant 5

PMID:9536098 PMID:14676472 PMID:15173223 PMID:17576681 PMID:17868390 More...

NCBI chr14:38,210,975...38,286,729
Ensembl chr14:38,211,540...38,292,280

autosomal dominant nonsyndromic deafness 50

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

microRNA mir-96

ClinVar Annotator: match by term: Deafness, autosomal dominant 50

PMID:14757864 PMID:19363479

NCBI chr14:7,068,754...7,068,842
Ensembl chr14:7,068,754...7,068,842

autosomal dominant nonsyndromic deafness 51

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tight junction protein 2

ClinVar Annotator: match by term: Deafness, autosomal dominant 51

NCBI chr 1:88,126,134...88,251,018
Ensembl chr 1:88,126,136...88,230,654

autosomal dominant nonsyndromic deafness 56

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

pappalysin 1

ClinVar Annotator: match by term: Deafness, autosomal dominant 56

PMID:21681106 PMID:23936043

NCBI chr11:69,979,295...70,220,256
Ensembl chr11:69,982,268...70,219,550

G

tenascin C

ClinVar Annotator: match by term: Deafness, autosomal dominant 56 | ClinVar Annotator: match by term: TNC-related condition

PMID:21681106 PMID:23936043 PMID:25741868 PMID:26467025 PMID:28492532 More...

NCBI chr11:69,077,532...69,169,673
Ensembl chr11:69,077,535...69,170,281

G

TNF superfamily member 8

ClinVar Annotator: match by term: Deafness, autosomal dominant 56

PMID:21681106 PMID:23936043

NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355

autosomal dominant nonsyndromic deafness 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

wolframin ER transmembrane glycoprotein

ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38

PMID:9536098 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 More...

NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827

autosomal dominant nonsyndromic deafness 64

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4

ClinVar Annotator: match by term: Deafness, autosomal dominant 64

PMID:25741868 PMID:28492532

NCBI chr26:7,145,120...7,147,732
Ensembl chr26:7,145,262...7,146,335

G

diablo IAP-binding mitochondrial protein

ClinVar Annotator: match by term: Deafness, autosomal dominant 64

PMID:21722859 PMID:25741868 PMID:28492532

NCBI chr26:7,125,320...7,144,884
Ensembl chr26:7,125,405...7,144,308

autosomal dominant nonsyndromic deafness 65

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin F

ClinVar Annotator: match by term: Deafness, autosomal dominant 65

PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More...

NCBI chr 6:38,572,883...38,592,465
Ensembl chr 6:38,574,234...38,592,435

G

TBC1 domain family member 24

ClinVar Annotator: match by term: Deafness, autosomal dominant 65

PMID:16199547 PMID:18414213 PMID:22277662 PMID:23526554 PMID:23806086 More...

NCBI chr 6:38,531,547...38,557,472

autosomal dominant nonsyndromic deafness 66

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD164 molecule

ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 66

PMID:25741868 PMID:26197441

NCBI chr12:66,295,444...66,309,691
Ensembl chr12:66,297,248...66,310,186

autosomal dominant nonsyndromic deafness 67

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

oxysterol binding protein like 2

OMIM:616340

NCBI chr24:46,268,498...46,299,407

autosomal dominant nonsyndromic deafness 68

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chromosome 3 C15orf40 homolog

ClinVar Annotator: match by term: Deafness, autosomal dominant 68

PMID:25741868 PMID:25816005 PMID:30047143

NCBI chr 3:54,788,092...54,793,197
Ensembl chr 3:54,657,075...54,794,206

autosomal dominant nonsyndromic deafness 69

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KIT ligand

ClinVar Annotator: match by term: Deafness, autosomal dominant 69 | ClinVar Annotator: match by term: Deafness, autosomal dominant 69, unilateral or asymmetric

PMID:16199547 PMID:25741868 PMID:26522471 PMID:28492532 PMID:33229591

NCBI chr15:29,591,068...29,671,985
Ensembl chr15:29,591,170...29,671,974

autosomal dominant nonsyndromic deafness 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LIM homeobox transcription factor 1 alpha

ClinVar Annotator: match by term: Deafness, autosomal dominant 7

PMID:25741868 PMID:29754270 PMID:32840933 PMID:35711095 PMID:36140227

NCBI chr38:17,958,366...18,111,155
Ensembl chr38:17,956,961...18,109,049

autosomal dominant nonsyndromic deafness 70

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

minichromosome maintenance complex component 2

ClinVar Annotator: match by term: Deafness, autosomal dominant 70

PMID:25741868 PMID:26196677 PMID:28492532

NCBI chr20:1,682,928...1,702,689
Ensembl chr20:1,682,886...1,702,366

autosomal dominant nonsyndromic deafness 71

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Dmx like 2

ClinVar Annotator: match by term: Deafness, autosomal dominant 71

PMID:25741868 PMID:27657680 PMID:28492532 PMID:33715530 PMID:35802133 More...

NCBI chr30:17,156,077...17,308,641
Ensembl chr30:17,156,791...17,308,803

autosomal dominant nonsyndromic deafness 72

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 44 member 4

ClinVar Annotator: match by term: Deafness, autosomal dominant 72

PMID:25741868 PMID:28013291 PMID:28492532

NCBI chr12:1,328,276...1,340,752
Ensembl chr12:1,328,399...1,340,778

autosomal dominant nonsyndromic deafness 73

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein tyrosine phosphatase receptor type Q

ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 73 | ClinVar Annotator: match by term: Deafness, autosomal dominant 73

PMID:25741868 PMID:26467025 PMID:29309402

NCBI chr15:22,771,653...23,017,694
Ensembl chr15:22,825,348...23,013,762

autosomal dominant nonsyndromic deafness 74

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphodiesterase 1C

ClinVar Annotator: match by term: Deafness, autosomal dominant 74

PMID:25741868 PMID:28492532 PMID:29860631

NCBI chr14:44,250,612...44,543,818
Ensembl chr14:44,145,534...44,644,937

autosomal dominant nonsyndromic deafness 75

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transformation/transcription domain associated protein

ClinVar Annotator: match by term: Deafness, autosomal dominant 75

PMID:25741868 PMID:28492532 PMID:31231791

NCBI chr 6:10,519,734...10,635,175
Ensembl chr 6:10,519,711...10,632,776

autosomal dominant nonsyndromic deafness 76

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

plastin 1

ClinVar Annotator: match by term: Deafness, autosomal dominant 76 | ClinVar Annotator: match by term: PLS1-related condition

PMID:25741868 PMID:28492532 PMID:30872814 PMID:31397523 PMID:31432506

NCBI chr23:38,243,631...38,347,195
Ensembl chr23:38,243,024...38,347,202

autosomal dominant nonsyndromic deafness 77

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 1

ClinVar Annotator: match by term: Deafness, autosomal dominant 77

NCBI chr 6:27,855,702...27,950,140
Ensembl chr 6:27,855,702...27,989,331

autosomal dominant nonsyndromic deafness 78

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 12 member 2

ClinVar Annotator: match by term: Deafness, autosomal dominant 78

PMID:25741868 PMID:28492532 PMID:32294086 PMID:32658972

NCBI chr11:17,143,943...17,256,248
Ensembl chr11:17,143,943...17,253,695

autosomal dominant nonsyndromic deafness 79

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

stearoyl-CoA desaturase 5

ClinVar Annotator: match by term: Deafness, autosomal dominant 79

NCBI chr32:6,594,607...6,745,379
Ensembl chr32:6,595,424...6,745,308

Autosomal Dominant Nonsyndromic Deafness 80

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GREB1 like retinoic acid receptor coactivator

ClinVar Annotator: match by term: Deafness, autosomal dominant 80

PMID:25741868 PMID:28492532 PMID:29955957 PMID:32585897

NCBI chr 7:66,489,124...66,758,207
Ensembl chr 7:66,503,999...66,639,013

Autosomal Dominant Nonsyndromic Deafness 81

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ELMO domain containing 3

ClinVar Annotator: match by term: Deafness, autosomal dominant 81

PMID:25741868 PMID:28492532 PMID:29713870

NCBI chr17:39,642,101...39,668,079
Ensembl chr17:39,643,676...39,665,726

Autosomal Dominant Nonsyndromic Deafness 82

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase plasma membrane Ca2+ transporting 2

ClinVar Annotator: match by term: ATP2B2-related Progressive hearing impairment | ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal dominant 82

PMID:25741868 PMID:28492532 PMID:30535804

NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474

Autosomal Dominant Nonsyndromic Deafness 83

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

microtubule associated protein 1B

ClinVar Annotator: match by term: Deafness, autosomal dominant 83

PMID:25741868 PMID:33268592

NCBI chr 2:55,175,000...55,258,160
Ensembl chr 2:55,174,837...55,253,975

Autosomal Dominant Nonsyndromic Deafness 84

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase phospholipid transporting 11A

ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 84

PMID:25741868 PMID:30311386 PMID:35278131

NCBI chr22:60,302,098...60,431,070
Ensembl chr22:60,302,309...60,428,080

Autosomal Dominant Nonsyndromic Deafness 85

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ubiquitin specific peptidase 48

ClinVar Annotator: match by term: Deafness, autosomal dominant 85

PMID:25741868 PMID:34059922

NCBI chr 2:77,401,101...77,484,139
Ensembl chr 2:77,379,440...77,484,089

Autosomal Dominant Nonsyndromic Deafness 86

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

THO complex subunit 1

ClinVar Annotator: match by term: Deafness, autosomal dominant 86

NCBI chr 7:67,082,100...67,136,592
Ensembl chr 7:67,082,231...67,136,525

Autosomal Dominant Nonsyndromic Deafness 87

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphatidylinositol 4-kinase beta

ClinVar Annotator: match by term: Deafness, autosomal dominant 87

NCBI chr17:60,359,545...60,386,093
Ensembl chr17:60,360,236...60,384,778

Autosomal Dominant Nonsyndromic Deafness 88

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EPH receptor A10

NCBI chr15:4,756,136...4,789,494

Autosomal Dominant Nonsyndromic Deafness 89

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

atonal bHLH transcription factor 1

ClinVar Annotator: match by term: Deafness, autosomal dominant 89

PMID:25741868 PMID:33111345

NCBI chr32:16,807,217...16,809,294
Ensembl chr32:16,807,336...16,808,406

autosomal dominant nonsyndromic deafness 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cochlin

ClinVar Annotator: match by term: Deafness, autosomal dominant 9

PMID:8817345 PMID:9806553 PMID:9931344 PMID:10400989 PMID:11332404 More...

NCBI chr 8:10,215,101...10,230,017
Ensembl chr 8:10,214,536...10,233,550

Autosomal Dominant Nonsyndromic Deafness 90

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin IIIA

ClinVar Annotator: match by term: Deafness, autosomal dominant 90

PMID:25741868 PMID:29880844 PMID:34788109

NCBI chr 2:7,455,125...7,695,483
Ensembl chr 2:7,455,625...7,696,043

autosomal recessive nonsyndromic deafness

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adhesion G protein-coupled receptor V1

ClinVar Annotator: match by term: Deafness, autosomal recessive

PMID:28492532 PMID:28951997 PMID:30303587

NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532

G

ATPase H+ transporting V1 subunit B1

OMIM:607197

NCBI chr10:69,261,311...69,287,540
Ensembl chr10:69,252,926...69,287,542

G

barttin CLCNK type accessory subunit beta

ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB

PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 PMID:30303587

NCBI chr 5:54,225,393...54,239,305
Ensembl chr 5:54,225,389...54,237,110

G

chromosome 4 C10orf105 homolog

ClinVar Annotator: match by term: Deafness, autosomal recessive

PMID:11090341 PMID:11138009 PMID:16679490 PMID:21940737 PMID:25741868 More...

NCBI chr 4:22,472,365...22,478,931

G

calcium binding protein 2

ClinVar Annotator: match by term: Deafness, autosomal recessive

PMID:9536098 PMID:17576681 PMID:22981119 PMID:25741868 PMID:28492532 More...

NCBI chr18:49,960,656...49,963,889
Ensembl chr18:49,959,544...49,964,268

G

cadherin related 23

ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive

PMID:8894709 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 More...

NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131

G

calcium and integrin binding family member 2

ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive

PMID:23023331 PMID:25741868 PMID:30303587

G

claudin 14

ClinVar Annotator: match by term: Deafness, autosomal recessive

PMID:11163249 PMID:15880785 PMID:22246673 PMID:25741868 PMID:30303587

NCBI chr31:31,677,410...31,725,794
Ensembl chr31:31,677,733...31,678,446

G

chloride intracellular channel 5

ClinVar Annotator: match by term: Deafness, autosomal recessive

NCBI chr12:14,160,524...14,318,174
Ensembl chr12:14,144,390...14,318,582

G

endothelin receptor type B

ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness

PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 PMID:32747562

NCBI chr22:31,415,324...31,438,772
Ensembl chr22:31,417,308...31,437,587

G

EGFR pathway substrate 8, signaling adaptor

ClinVar Annotator: match by term: Deafness, autosomal recessive

PMID:25741868 PMID:30303587

NCBI chr27:30,893,884...31,070,401
Ensembl chr27:30,893,713...31,069,770

G

espin

ClinVar Annotator: match by term: Deafness, autosomal recessive

NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676

G

estrogen related receptor beta

ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness

PMID:23967202 PMID:24033266 PMID:30303587 PMID:33524517

NCBI chr 8:49,253,877...49,424,148
Ensembl chr 8:49,253,332...49,421,332

G

GIPC PDZ domain containing family member 3

ClinVar Annotator: match by term: Deafness, autosomal recessive

NCBI chr20:55,833,876...55,837,621

G

gap junction protein beta 2

ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive

PMID:3 PMID:1511312 PMID:2104787 PMID:2706105 PMID:8789457 More...

NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289

G

gap junction protein beta 3

ClinVar Annotator: match by term: Deafness, autosomal recessive

NCBI chr15:7,175,010...7,177,145

G

golgi SNAP receptor complex member 2

ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB

PMID:35802133 PMID:37074134

NCBI chr 9:10,201,625...10,220,688

G

G protein-coupled receptor 156

ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB

NCBI chr33:23,720,883...23,804,289
Ensembl chr33:23,722,672...23,774,283

G

G protein signaling modulator 2

ClinVar Annotator: match by term: Deafness, autosomal recessive

PMID:20602914 PMID:22578326 PMID:30303587 PMID:32747562

NCBI chr 6:42,828,611...42,878,334
Ensembl chr 6:42,824,455...42,868,690

G

glutaredoxin and cysteine rich domain containing 1

ClinVar Annotator: match by term: Deafness, autosomal recessive

PMID:20137778 PMID:30303587

NCBI chr13:39,766,910...39,882,076
Ensembl chr13:39,766,919...39,882,086

G

glutaredoxin and cysteine rich domain containing 2

ClinVar Annotator: match by term: Deafness, autosomal recessive

NCBI chr 2:40,310,285...40,330,200
Ensembl chr 2:40,315,807...40,328,240

G

immunoglobulin like domain containing receptor 1

ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive

PMID:15641023 PMID:21255762 PMID:25741868 PMID:30303587

NCBI chr33:25,207,537...25,238,071
Ensembl chr33:25,207,572...25,237,949

G

LHFPL tetraspan subfamily member 5

ClinVar Annotator: match by term: Deafness, autosomal recessive

PMID:16459341 PMID:25741868 PMID:30177809 PMID:30298622 PMID:30303587

NCBI chr12:4,919,732...4,936,823
Ensembl chr12:4,902,832...4,936,413

G

lipoxygenase homology PLAT domains 1

ClinVar Annotator: match by term: Deafness, autosomal recessive

PMID:16199547 PMID:19732867 PMID:21465660 PMID:25741868 PMID:25792669 More...

NCBI chr 7:44,662,800...44,828,405
Ensembl chr 7:44,663,182...44,826,858

G

MARVEL domain containing 2

ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive

NCBI chr 2:54,438,046...54,458,890
Ensembl chr 2:54,441,797...54,457,515

G

methionine sulfoxide reductase B3

ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness

PMID:19650862 PMID:21185009 PMID:30303587

NCBI chr10:7,892,745...8,040,196
Ensembl chr10:7,892,640...8,038,043

G

myosin heavy chain 9

ClinVar Annotator: match by term: Deafness, autosomal recessive

NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953

G

myosin XVA

ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive

PMID:17546645 PMID:25741868 PMID:27573290 PMID:28492532 PMID:30303587

NCBI chr 5:41,369,484...41,421,303
Ensembl chr 5:41,370,509...41,392,881

G

myosin VIIA

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

PMID:8900236 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10930322 More...

NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279

G

otoancorin

ClinVar Annotator: match by term: Deafness, autosomal recessive

PMID:23173898 PMID:24033266 PMID:28492532 PMID:30303587

NCBI chr 6:23,106,650...23,175,159
Ensembl chr 6:23,106,804...23,168,380

G

otoferlin

ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive

PMID:12525542 PMID:14635104 PMID:18381613 PMID:19250381 PMID:20301429 More...

NCBI chr17:20,518,480...20,619,713
Ensembl chr17:20,518,813...20,614,750

G

otogelin

ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness

NCBI chr21:40,103,163...40,193,680
Ensembl chr21:40,106,826...40,192,475

G

protocadherin related 15

ClinVar Annotator: match by term: Deafness, autosomal recessive

NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017

G

PDZ domain containing 7

ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB

PMID:25741868 PMID:28492532 PMID:31253780

NCBI chr28:13,693,032...13,711,654
Ensembl chr28:13,693,023...13,711,784

G

pejvakin

ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive

PMID:17301963 PMID:17718875 PMID:19888295 PMID:21696384 PMID:25741868 More...

NCBI chr36:22,080,574...22,087,537
Ensembl chr36:22,040,303...22,092,249

G

POU class 4 homeobox 3

ClinVar Annotator: match by term: Deafness, autosomal recessive

NCBI chr 2:40,762,499...40,764,131
Ensembl chr 2:40,762,477...40,765,161

G

protein tyrosine phosphatase receptor type Q

ClinVar Annotator: match by term: Deafness, autosomal recessive

NCBI chr15:22,771,653...23,017,694
Ensembl chr15:22,825,348...23,013,762

G

solute carrier family 26 member 4

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

PMID:9398842 PMID:9536098 PMID:9618166 PMID:9618167 PMID:10700480 More...

NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212

G

tectorin alpha

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

NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147

G

transmembrane channel like 1

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

PMID:11850618 PMID:16134132 PMID:16199547 PMID:17877751 PMID:18414213 More...

NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369

G

transmembrane inner ear

ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness

PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:30303587 More...

NCBI chr20:42,052,607...42,061,424
Ensembl chr20:42,053,817...42,061,262

G

transmembrane serine protease 3

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

PMID:11137999 PMID:11424922 PMID:12920079 PMID:16021470 PMID:24033266 More...

NCBI chr31:36,706,229...36,730,444
Ensembl chr31:36,707,723...36,730,520

G

TOG array regulator of axonemal microtubules 2

ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB

NCBI chr17:22,829,957...22,913,565
Ensembl chr17:22,849,467...22,892,447

G

taperin

ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB

PMID:20170899 PMID:30303587

G

TRIO and F-actin binding protein

ClinVar Annotator: match by term: Deafness, autosomal recessive

NCBI chr10:26,856,981...26,913,330
Ensembl chr10:26,857,678...26,911,083

G

USH1 protein network component harmonin

ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive

PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 More...

NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430

G

USH1 protein network component sans

ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive

PMID:25741868 PMID:30303587

NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900

G

usherin

ClinVar Annotator: match by term: Deafness, autosomal recessive

PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 More...

NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444

G

whirlin

ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness

NCBI chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977

autosomal recessive nonsyndromic deafness 100

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

diphosphoinositol pentakisphosphate kinase 2

ClinVar Annotator: match by term: Deafness, autosomal recessive 100

PMID:15538632 PMID:25741868 PMID:29590114

NCBI chr 3:8,013,879...8,083,177
Ensembl chr 3:8,002,012...8,087,684

autosomal recessive nonsyndromic deafness 101

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutaredoxin and cysteine rich domain containing 2

ClinVar Annotator: match by term: Deafness, autosomal recessive 101

PMID:24619944 PMID:25741868 PMID:28492532

NCBI chr 2:40,310,285...40,330,200
Ensembl chr 2:40,315,807...40,328,240

autosomal recessive nonsyndromic deafness 102

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EGFR pathway substrate 8, signaling adaptor

ClinVar Annotator: match by term: Deafness, autosomal recessive 102

PMID:24033266 PMID:24741995 PMID:25741868 PMID:28492532 PMID:30303587

NCBI chr27:30,893,884...31,070,401
Ensembl chr27:30,893,713...31,069,770

autosomal recessive nonsyndromic deafness 103

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chloride intracellular channel 5

ClinVar Annotator: match by term: Deafness, autosomal recessive 103

PMID:24033266 PMID:24781754 PMID:25741868 PMID:28492532

NCBI chr12:14,160,524...14,318,174
Ensembl chr12:14,144,390...14,318,582

G

dicer 1, ribonuclease III

ClinVar Annotator: match by term: Deafness, autosomal recessive 103

PMID:25741868 PMID:28492532

NCBI chr 8:63,970,245...64,029,438
Ensembl chr 8:63,972,027...64,019,879

autosomal recessive nonsyndromic deafness 104

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gap junction protein beta 2

ClinVar Annotator: match by term: Deafness, autosomal recessive 104

PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More...

NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289

G

RHO family interacting cell polarization regulator 2

ClinVar Annotator: match by term: Deafness, autosomal recessive 104 | ClinVar Annotator: match by term: RIPOR2-related condition

PMID:24033266 PMID:24958875 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr35:22,823,053...23,041,765
Ensembl chr35:22,824,106...23,041,743

autosomal recessive nonsyndromic deafness 106

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EGFR pathway substrate 8, signaling adaptor

ClinVar Annotator: match by term: Deafness, autosomal recessive 106

PMID:25741868 PMID:28492532

NCBI chr27:30,893,884...31,070,401
Ensembl chr27:30,893,713...31,069,770

G

EPS8 signaling adaptor L2

ClinVar Annotator: match by term: Deafness, autosomal recessive 106

PMID:25741868 PMID:25741905 PMID:26282398 PMID:28281779 PMID:28492532 More...

NCBI chr18:25,741,166...25,755,310
Ensembl chr18:25,733,090...25,755,658

autosomal recessive nonsyndromic deafness 107

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

WW domain binding protein 2

ClinVar Annotator: match by term: Deafness, autosomal recessive 107

PMID:25741868 PMID:26881968 PMID:28492532

NCBI chr 9:4,743,476...4,752,301
Ensembl chr 9:4,743,539...4,752,270

autosomal recessive nonsyndromic deafness 108

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

receptor tyrosine kinase like orphan receptor 1

ClinVar Annotator: match by term: Deafness, autosomal recessive 108

PMID:25741868 PMID:27162350 PMID:28492532

NCBI chr 5:46,010,097...46,477,882
Ensembl chr 5:46,013,195...46,190,880

autosomal recessive nonsyndromic deafness 109

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

epithelial splicing regulatory protein 1

ClinVar Annotator: match by term: Deafness, autosomal recessive 109

PMID:25741868 PMID:29107558

NCBI chr29:39,322,516...39,388,363
Ensembl chr29:39,333,117...39,387,337

autosomal recessive nonsyndromic deafness 110

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cochlin

ClinVar Annotator: match by term: Deafness, autosomal recessive 110

PMID:24033266 PMID:25230692 PMID:25741868 PMID:28492532 PMID:29449721 More...

NCBI chr 8:10,215,101...10,230,017
Ensembl chr 8:10,214,536...10,233,550

autosomal recessive nonsyndromic deafness 111

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myelin protein zero like 2

ClinVar Annotator: match by term: Deafness, autosomal recessive 111 | ClinVar Annotator: match by term: MPZL2-related condition

PMID:25741868 PMID:28492532 PMID:29961571 PMID:29982980 PMID:30311386 More...

NCBI chr 5:15,446,803...15,458,667
Ensembl chr 5:15,447,104...15,458,515

autosomal recessive nonsyndromic deafness 112

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB

ClinVar Annotator: match by term: Deafness, autosomal recessive 112

PMID:24312468 PMID:25741868

NCBI chr 2:54,654,406...54,743,443
Ensembl chr 2:54,654,481...54,740,787

autosomal recessive nonsyndromic deafness 113

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CEA cell adhesion molecule 16, tectorial membrane component

ClinVar Annotator: match by term: Deafness, autosomal recessive 113

PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29703829 More...

NCBI chr 1:110,652,362...110,661,173
Ensembl chr 1:110,652,584...110,660,334

autosomal recessive nonsyndromic deafness 114

term browser

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Evidence

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PubMed Reference(s)

RGD Reference(s)

Position

G

GRB2 related adaptor protein

ClinVar Annotator: match by term: Deafness, autosomal recessive 114

PMID:25741868 PMID:30610177

NCBI chr 5:41,014,193...41,038,965

autosomal recessive nonsyndromic deafness 115

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SPNS lysolipid transporter 2, sphingosine-1-phosphate

ClinVar Annotator: match by term: Deafness, autosomal recessive 115

PMID:25741868 PMID:28492532

NCBI chr 5:30,494,355...30,527,669

autosomal recessive nonsyndromic deafness 116

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

claudin 9

ClinVar Annotator: match by term: Deafness, autosomal recessive 116

PMID:25741868 PMID:30311386 PMID:31175426 PMID:35802133 PMID:36633841

NCBI chr 6:38,172,035...38,174,089
Ensembl chr 6:38,172,550...38,173,203

Autosomal Recessive Nonsyndromic Deafness 117

term browser

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Object Name

Qualifiers

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Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

clarin 2

ClinVar Annotator: match by term: CLRN2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 117

PMID:25741868 PMID:33496845

NCBI chr 3:62,958,242...62,967,878
Ensembl chr 3:62,959,224...62,967,994

Autosomal Recessive Nonsyndromic Deafness 119

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AFG2 AAA ATPase homolog B

ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 119

PMID:25741868 PMID:28492532 PMID:34626583

NCBI chr30:11,767,166...11,788,402
Ensembl chr30:11,767,064...11,788,398

autosomal recessive nonsyndromic deafness 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase plasma membrane Ca2+ transporting 2

ClinVar Annotator: match by term: Deafness, autosomal recessive 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12, modifier of

PMID:15829536 PMID:22047666 PMID:25741868 PMID:27535533 PMID:28492532 More...

NCBI chr20:7,665,468...8,037,407
Ensembl chr20:7,749,807...8,034,474

G

chromosome 4 C10orf105 homolog

ClinVar Annotator: match by term: Deafness, autosomal recessive 12

PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More...

NCBI chr 4:22,472,365...22,478,931

G

cadherin related 23

ClinVar Annotator: match by term: Deafness, autosomal recessive 12

PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More...

NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131

G

gap junction protein beta 2

ClinVar Annotator: match by term: Deafness, autosomal recessive 12

PMID:24367894 PMID:25741868

NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289

G

prosaposin

ClinVar Annotator: match by term: Deafness, autosomal recessive 12

PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:28492532

NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848

G

V-set immunoregulatory receptor

ClinVar Annotator: match by term: Deafness, autosomal recessive 12

NCBI chr 4:22,504,888...22,530,702
Ensembl chr 4:22,459,363...22,530,687

Autosomal Recessive Nonsyndromic Deafness 120

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

membrane integral NOTCH2 associated receptor 2

ClinVar Annotator: match by term: Deafness, autosomal recessive 120

NCBI chr11:18,506,042...18,531,187
Ensembl chr11:18,507,059...18,524,589

G

obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

ClinVar Annotator: match by term: Deafness, autosomal recessive 120

NCBI chr14:664,404...782,376

Autosomal Recessive Nonsyndromic Deafness 121

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

G protein-coupled receptor 156

ClinVar Annotator: match by term: Deafness, autosomal recessive 121

NCBI chr33:23,720,883...23,804,289
Ensembl chr33:23,722,672...23,774,283

Autosomal Recessive Nonsyndromic Deafness 122

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane O-mannosyltransferase targeting cadherins 4

ClinVar Annotator: match by term: Deafness, autosomal recessive 122

NCBI chr22:50,483,799...50,554,421
Ensembl chr22:50,485,190...50,555,587

Autosomal Recessive Nonsyndromic Deafness 123

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

syntaxin 4

NCBI chr 6:17,184,044...17,189,481
Ensembl chr 6:17,184,399...17,189,370

autosomal recessive nonsyndromic deafness 15

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GIPC PDZ domain containing family member 3

ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95 | ClinVar Annotator: match by term: Deafness, autosomal recessive 15

PMID:9286457 PMID:17690910 PMID:21326233 PMID:21660509 PMID:24033266 More...

NCBI chr20:55,833,876...55,837,621

autosomal recessive nonsyndromic deafness 16

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cation channel sperm associated 2

ClinVar Annotator: match by term: Deafness, autosomal recessive 16

PMID:11687802 PMID:21681106 PMID:25741868 PMID:26011646

NCBI chr30:10,471,798...10,487,948
Ensembl chr30:10,471,814...10,487,739

G

FERM domain containing 5

ClinVar Annotator: match by term: Deafness, autosomal recessive 16

NCBI chr30:10,611,986...10,923,444
Ensembl chr30:10,614,406...10,923,261

G

creatine kinase U-type, mitochondrial

ClinVar Annotator: match by term: Deafness, autosomal recessive 16

NCBI chr30:10,438,566...10,444,532

G

protein disulfide isomerase family A member 3

ClinVar Annotator: match by term: Deafness, autosomal recessive 16

NCBI chr30:10,487,926...10,513,437
Ensembl chr30:10,487,921...10,513,397

G

diphosphoinositol pentakisphosphate kinase 1

ClinVar Annotator: match by term: Deafness, autosomal recessive 16

NCBI chr30:10,383,733...10,436,423
Ensembl chr30:10,384,791...10,426,533

G

stereocilin

ClinVar Annotator: match by term: Deafness, autosomal recessive 16 | ClinVar Annotator: match by term: STRC-related condition

PMID:11687802 PMID:18414213 PMID:21078986 PMID:21681106 PMID:22147502 More...

NCBI chr30:10,444,726...10,459,058
Ensembl chr30:10,444,793...10,460,785

Autosomal Recessive Nonsyndromic Deafness 18

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

USH1 protein network component harmonin

ClinVar Annotator: match by term: Deafness, autosomal recessive 18

PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More...

NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430

autosomal recessive nonsyndromic deafness 18A

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

USH1 protein network component harmonin

ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18A | ClinVar Annotator: match by term: Deafness, autosomal recessive 18A

PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More...

NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430

autosomal recessive nonsyndromic deafness 18B

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

otogelin

ClinVar Annotator: match by term: Deafness, autosomal recessive 18b | ClinVar Annotator: match by term: OTOG-related condition

PMID:9536098 PMID:10655058 PMID:16199547 PMID:17576681 PMID:23122587 More...

NCBI chr21:40,103,163...40,193,680
Ensembl chr21:40,106,826...40,192,475

autosomal recessive nonsyndromic deafness 1A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

crystallin lambda 1

ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6

PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More...

NCBI chr25:17,551,586...17,733,754
Ensembl chr25:17,562,926...17,733,630

G

EEF1A lysine methyltransferase 1

ClinVar Annotator: match by term: Deafness, autosomal recessive 1A

NCBI chr25:17,357,251...17,382,098
Ensembl chr25:17,357,328...17,381,821

G

gap junction protein alpha 3

ClinVar Annotator: match by term: Deafness, autosomal recessive 1A

NCBI chr25:17,986,270...18,004,344
Ensembl chr25:18,002,817...18,004,160

G

gap junction protein beta 2

ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6

PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More...

NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289

G

gap junction protein beta 3

ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3

PMID:19050930 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr15:7,175,010...7,177,145

G

gap junction protein beta 4

ClinVar Annotator: match by term: Deafness, autosomal recessive 1A

PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532

NCBI chr15:7,193,183...7,195,586

G

gap junction protein beta 6

ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6

PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 More...

NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605

G

intraflagellar transport 88

ClinVar Annotator: match by term: Deafness, autosomal recessive 1A

NCBI chr25:17,414,965...17,551,405
Ensembl chr25:17,414,965...17,551,266

G

interleukin 17D

ClinVar Annotator: match by term: Deafness, autosomal recessive 1A

NCBI chr25:17,386,815...17,390,315

G

exportin 4

ClinVar Annotator: match by term: Deafness, autosomal recessive 1A

NCBI chr25:17,230,401...17,352,600
Ensembl chr25:17,230,031...17,348,031

autosomal recessive nonsyndromic deafness 1B

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

crystallin lambda 1

ClinVar Annotator: match by term: Deafness, autosomal recessive 1b

PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More...

NCBI chr25:17,551,586...17,733,754
Ensembl chr25:17,562,926...17,733,630

G

EEF1A lysine methyltransferase 1

ClinVar Annotator: match by term: Deafness, autosomal recessive 1b

NCBI chr25:17,357,251...17,382,098
Ensembl chr25:17,357,328...17,381,821

G

gap junction protein alpha 3

ClinVar Annotator: match by term: Deafness, autosomal recessive 1b

NCBI chr25:17,986,270...18,004,344
Ensembl chr25:18,002,817...18,004,160

G

gap junction protein beta 2

ClinVar Annotator: match by term: Deafness, autosomal recessive 1b

PMID:3 PMID:2706105 PMID:2956987 PMID:8789457 PMID:9139825 More...

NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289

G

gap junction protein beta 6

ClinVar Annotator: match by term: Deafness, autosomal recessive 1b

PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 More...

NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605

G

intraflagellar transport 88

ClinVar Annotator: match by term: Deafness, autosomal recessive 1b

NCBI chr25:17,414,965...17,551,405
Ensembl chr25:17,414,965...17,551,266

G

interleukin 17D

ClinVar Annotator: match by term: Deafness, autosomal recessive 1b

NCBI chr25:17,386,815...17,390,315

G

exportin 4

ClinVar Annotator: match by term: Deafness, autosomal recessive 1b

NCBI chr25:17,230,401...17,352,600
Ensembl chr25:17,230,031...17,348,031

autosomal recessive nonsyndromic deafness 2

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

myosin VIIA

ClinVar Annotator: match by term: Deafness, autosomal recessive 2 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2

PMID:3130723 PMID:7568224 PMID:7870171 PMID:7951250 PMID:8900236 More...

NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279

autosomal recessive nonsyndromic deafness 21

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tectorin alpha

ClinVar Annotator: match by term: Deafness, autosomal recessive 21 | ClinVar Annotator: match by term: Deafness, neurosensory autosomal recessive 21 | ClinVar Annotator: match by term: TECTA-related condition

PMID:9536098 PMID:9949200 PMID:11087000 PMID:12746400 PMID:17431902 More...

NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147

autosomal recessive nonsyndromic deafness 22

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

immunoglobulin superfamily member 6

ClinVar Annotator: match by term: Deafness, autosomal recessive 22

PMID:25741868 PMID:33492714

NCBI chr 6:23,185,442...23,195,432
Ensembl chr 6:23,185,461...23,194,787

G

methyltransferase 9, His-X-His N1(pi)-histidine

ClinVar Annotator: match by term: Deafness, autosomal recessive 22

PMID:25741868 PMID:33492714

NCBI chr 6:23,182,800...23,230,288
Ensembl chr 6:23,183,103...23,230,262

G

otoancorin

ClinVar Annotator: match by term: Deafness, autosomal recessive 22 | ClinVar Annotator: match by term: OTOA-related condition

PMID:9536098 PMID:11972037 PMID:16199547 PMID:17576681 PMID:19888295 More...

NCBI chr 6:23,106,650...23,175,159
Ensembl chr 6:23,106,804...23,168,380

G

ubiquinol-cytochrome c reductase core protein 2

ClinVar Annotator: match by term: Deafness, autosomal recessive 22

PMID:25741868 PMID:33492714

NCBI chr 6:23,627,782...23,653,625
Ensembl chr 6:23,627,831...23,653,563

autosomal recessive nonsyndromic deafness 23

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protocadherin related 15

ClinVar Annotator: match by term: Deafness, autosomal recessive 23

PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More...

NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017

autosomal recessive nonsyndromic deafness 24

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

radixin

ClinVar Annotator: match by term: Deafness, autosomal recessive 24

PMID:17226784 PMID:19215054 PMID:24033266 PMID:25741868 PMID:25741916 More...

NCBI chr 5:22,555,913...22,642,822
Ensembl chr 5:22,571,286...22,642,811

autosomal recessive nonsyndromic deafness 25

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutaredoxin and cysteine rich domain containing 1

ClinVar Annotator: match by term: Deafness, autosomal recessive 25

PMID:16380907 PMID:20137774 PMID:20137778 PMID:24033266 PMID:25741868 More...

NCBI chr13:39,766,910...39,882,076
Ensembl chr13:39,766,919...39,882,086

autosomal recessive nonsyndromic deafness 26

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GRB2 associated binding protein 1

ClinVar Annotator: match by term: Deafness, autosomal recessive 26

PMID:11101839 PMID:25741868 PMID:29408807

NCBI chr19:10,269...117,808
Ensembl chr19:12,616...156,694

autosomal recessive nonsyndromic deafness 28

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

trio Rho guanine nucleotide exchange factor

ClinVar Annotator: match by term: Deafness, autosomal recessive 28

PMID:25741868 PMID:28492532 PMID:32109419

NCBI chr34:271,572...505,656
Ensembl chr34:272,290...505,636

G

TRIO and F-actin binding protein

ClinVar Annotator: match by term: Deafness, autosomal recessive 28 | ClinVar Annotator: match by term: TRIOBP-related condition

PMID:16385457 PMID:16385458 PMID:20510926 PMID:23967202 PMID:24033266 More...

NCBI chr10:26,856,981...26,913,330
Ensembl chr10:26,857,678...26,911,083

autosomal recessive nonsyndromic deafness 29

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

claudin 14

ClinVar Annotator: match by term: Deafness, autosomal recessive 29

PMID:11163249 PMID:15880785 PMID:22246673 PMID:23235333 PMID:23590985 More...

NCBI chr31:31,677,410...31,725,794
Ensembl chr31:31,677,733...31,678,446

autosomal recessive nonsyndromic deafness 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chromodomain helicase DNA binding protein 7

ClinVar Annotator: match by term: Deafness, autosomal recessive 3

PMID:25741868 PMID:28492532

NCBI chr29:11,115,865...11,284,713
Ensembl chr29:11,156,340...11,283,627

G

myosin XVA

ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 | ClinVar Annotator: match by term: Deafness, autosomal recessive 3 | ClinVar Annotator: match by term: MYO15A-related condition | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3

PMID:2574186 PMID:7616538 PMID:7704031 PMID:9536098 PMID:9603736 More...

NCBI chr 5:41,369,484...41,421,303
Ensembl chr 5:41,370,509...41,392,881

autosomal recessive nonsyndromic deafness 30

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin IIIA

ClinVar Annotator: match by term: Deafness, autosomal recessive 30 | ClinVar Annotator: match by term: MYO3A-related condition

PMID:9536098 PMID:12032315 PMID:17344846 PMID:17576681 PMID:21165622 More...

NCBI chr 2:7,455,125...7,695,483
Ensembl chr 2:7,455,625...7,696,043

autosomal recessive nonsyndromic deafness 31

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

whirlin

ClinVar Annotator: match by term: Deafness, autosomal recessive 31 | ClinVar Annotator: match by term: WHIRLER, MOUSE, HOMOLOG OF

PMID:9536098 PMID:11973626 PMID:12833159 PMID:15841483 PMID:17576681 More...

NCBI chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977

autosomal recessive nonsyndromic deafness 32

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell division cycle 14A

ClinVar Annotator: match by term: Deafness, autosomal recessive 105 | ClinVar Annotator: match by term: Deafness, autosomal recessive 32

PMID:12634867 PMID:24033266 PMID:25741868 PMID:27259055 PMID:28492532 More...

NCBI chr 6:49,429,675...49,678,376
Ensembl chr 6:49,497,939...49,693,665

autosomal recessive nonsyndromic deafness 35

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

estrogen related receptor beta

ClinVar Annotator: match by term: Deafness, autosomal recessive 35

PMID:12529709 PMID:18179891 PMID:22951369 PMID:23767834 PMID:24033266 More...

NCBI chr 8:49,253,877...49,424,148
Ensembl chr 8:49,253,332...49,421,332

autosomal recessive nonsyndromic deafness 36

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

espin

ClinVar Annotator: match by term: Deafness, autosomal recessive 36 | ClinVar Annotator: match by term: Deafness, autosomal recessive 36, with or without vestibular involvement | ClinVar Annotator: match by term: Deafness, autosomal recessive 36, without vestibular involvement | ClinVar Annotator: match by term: Deafness, without vestibular involvement, autosomal dominant

PMID:9763424 PMID:15286153 PMID:15930085 PMID:18973245 PMID:24033266 More...

NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676

autosomal recessive nonsyndromic deafness 37

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin VI

ClinVar Annotator: match by term: Deafness, autosomal recessive 37 | ClinVar Annotator: match by term: MYO6-related condition

PMID:9536098 PMID:11167014 PMID:12687499 PMID:16199547 PMID:17576681 More...

NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724

autosomal recessive nonsyndromic deafness 39

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hepatocyte growth factor

ClinVar Annotator: match by term: Deafness, autosomal recessive 39

PMID:18564920 PMID:19576567 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263

autosomal recessive nonsyndromic deafness 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CEA cell adhesion molecule 16, tectorial membrane component

ClinVar Annotator: match by term: Deafness, autosomal recessive 4

PMID:25741868 PMID:26467025 PMID:28492532 PMID:33111345

NCBI chr 1:110,652,362...110,661,173
Ensembl chr 1:110,652,584...110,660,334

G

forkhead box I1

ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4

PMID:17503324 PMID:20621367 PMID:20809947 PMID:24860705 PMID:25741868 More...

NCBI chr 4:41,760,899...41,764,887
Ensembl chr 4:41,761,016...41,764,836

G

potassium inwardly rectifying channel subfamily J member 10

ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4

PMID:19289823 PMID:19426954 PMID:20651251 PMID:20678478 PMID:20807765 More...

NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813

G

lamin A/C

ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct

PMID:21465660 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26602028 More...

NCBI chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931

G

lipin 2

ClinVar Annotator: match by term: Deafness, autosomal recessive 4

PMID:20032092 PMID:20645851 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 7:69,583,386...69,664,226
Ensembl chr 7:69,580,736...69,673,899

G

solute carrier family 26 member 4

ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4

PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More...

NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212

autosomal recessive nonsyndromic deafness 42

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

immunoglobulin like domain containing receptor 1

ClinVar Annotator: match by term: Deafness, autosomal recessive 42 | ClinVar Annotator: match by term: ILDR1-related condition

PMID:15641023 PMID:21255762 PMID:24033266 PMID:25668204 PMID:25741868 More...

NCBI chr33:25,207,537...25,238,071
Ensembl chr33:25,207,572...25,237,949

autosomal recessive nonsyndromic deafness 44

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenylate cyclase 1

ClinVar Annotator: match by term: Deafness, autosomal recessive 44

PMID:15583425 PMID:24033266 PMID:24482543 PMID:24824130 PMID:25741868 More...

NCBI chr16:1,064,644...1,166,864
Ensembl chr16:1,037,162...1,167,094

autosomal recessive nonsyndromic deafness 48

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium and integrin binding family member 2

ClinVar Annotator: match by term: Deafness, autosomal recessive 48

PMID:23023331 PMID:24033266 PMID:25741868 PMID:26173970 PMID:26214305 More...

G

SH2 domain containing 7

ClinVar Annotator: match by term: Deafness, autosomal recessive 48

autosomal recessive nonsyndromic deafness 49

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MARVEL domain containing 2

ClinVar Annotator: match by term: Deafness, autosomal recessive 49 | ClinVar Annotator: match by term: Deafness, neurosensory, autosomal recessive 49

PMID:16199547 PMID:17186462 PMID:18084694 PMID:22097895 PMID:23767834 More...

NCBI chr 2:54,438,046...54,458,890
Ensembl chr 2:54,441,797...54,457,515

autosomal recessive nonsyndromic deafness 53

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type XI alpha 2 chain

ClinVar Annotator: match by term: Deafness, autosomal recessive 53

PMID:10677296 PMID:15558753 PMID:16033917 PMID:21204229 PMID:22246659 More...

NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814

autosomal recessive nonsyndromic deafness 57

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

PDZ domain containing 7

ClinVar Annotator: match by term: Deafness, autosomal recessive 57

PMID:16199547 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26416264 More...

NCBI chr28:13,693,032...13,711,654
Ensembl chr28:13,693,023...13,711,784

autosomal recessive nonsyndromic deafness 59

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

pejvakin

ClinVar Annotator: match by term: Deafness, autosomal recessive 59

PMID:16804542 PMID:17301963 PMID:17329413 PMID:17373699 PMID:17718865 More...

NCBI chr36:22,080,574...22,087,537
Ensembl chr36:22,040,303...22,092,249

G

protein activator of interferon induced protein kinase EIF2AK2

ClinVar Annotator: match by term: Deafness, autosomal recessive 59

NCBI chr36:22,061,226...22,080,324
Ensembl chr36:22,061,461...22,080,612

autosomal recessive nonsyndromic deafness 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane inner ear

ClinVar Annotator: match by term: Deafness, autosomal recessive 6 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 6 | ClinVar Annotator: match by term: TMIE-related condition

PMID:8593615 PMID:12145746 PMID:16389551 PMID:19438934 PMID:24033266 More...

NCBI chr20:42,052,607...42,061,424
Ensembl chr20:42,053,817...42,061,262

autosomal recessive nonsyndromic deafness 61

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 26 member 5

ClinVar Annotator: match by term: Deafness, autosomal recessive 61

PMID:12239568 PMID:12719379 PMID:16086836 PMID:24033266 PMID:24164807 More...

NCBI chr18:16,783,795...16,841,946
Ensembl chr18:16,788,759...16,839,940

autosomal recessive nonsyndromic deafness 63

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

anaphase promoting complex subunit 15

ClinVar Annotator: match by term: Deafness, autosomal recessive 63

PMID:24033266 PMID:25741868 PMID:25788562 PMID:26467025 PMID:28492532

NCBI chr21:25,971,680...25,975,556
Ensembl chr21:25,972,458...25,975,558

G

transmembrane O-methyltransferase

ClinVar Annotator: match by term: Deafness, autosomal recessive 63

PMID:9536098 PMID:17211611 PMID:17576681 PMID:18794526 PMID:18953341 More...

NCBI chr21:25,975,547...25,981,097

G

leucine rich transmembrane and O-methyltransferase domain containing

ClinVar Annotator: match by term: Deafness, autosomal recessive 63

PMID:24033266 PMID:25741868

NCBI chr21:25,987,687...26,000,545
Ensembl chr21:25,987,433...26,000,327

G

nuclear mitotic apparatus protein 1

ClinVar Annotator: match by term: Deafness, autosomal recessive 63

NCBI chr21:26,000,579...26,076,281
Ensembl chr21:26,037,095...26,075,549

autosomal recessive nonsyndromic deafness 66

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

doublecortin domain containing 2

ClinVar Annotator: match by term: Deafness, autosomal recessive 66

PMID:16199547 PMID:16244493 PMID:23677054 PMID:23746548 PMID:25557784 More...

NCBI chr35:22,264,484...22,422,769
Ensembl chr35:22,266,282...22,422,776

autosomal recessive nonsyndromic deafness 67

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LHFPL tetraspan subfamily member 5

ClinVar Annotator: match by term: Deafness, autosomal recessive 67 | ClinVar Annotator: match by term: LHFPL5-related condition

PMID:16459341 PMID:16752389 PMID:24033266 PMID:25741868 PMID:25741905 More...

NCBI chr12:4,919,732...4,936,823
Ensembl chr12:4,902,832...4,936,413

autosomal recessive nonsyndromic deafness 68

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sphingosine-1-phosphate receptor 2

ClinVar Annotator: match by term: Deafness, autosomal recessive 68

PMID:16703383 PMID:24033266 PMID:24824130 PMID:25741868 PMID:26805784 More...

NCBI chr20:50,855,505...50,862,985
Ensembl chr20:50,860,591...50,861,649

autosomal recessive nonsyndromic deafness 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

otoancorin

ClinVar Annotator: match by term: Deafness, autosomal recessive 7

PMID:35802133 PMID:36633841

NCBI chr 6:23,106,650...23,175,159
Ensembl chr 6:23,106,804...23,168,380

G

tectorin alpha

ClinVar Annotator: match by term: Deafness, autosomal recessive 7

PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 More...

NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147

G

transmembrane channel like 1

ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 | ClinVar Annotator: match by term: Deafness, autosomal recessive 7

PMID:9536098 PMID:11850618 PMID:16134132 PMID:16199547 PMID:16287143 More...

NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369

autosomal recessive nonsyndromic deafness 70

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

polyribonucleotide nucleotidyltransferase 1

ClinVar Annotator: match by term: Deafness, autosomal recessive 70

PMID:11080643 PMID:23084290 PMID:23084291 PMID:24088041 PMID:25326635 More...

NCBI chr10:56,478,771...56,520,992
Ensembl chr10:56,478,680...56,520,967

autosomal recessive nonsyndromic deafness 74

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

methionine sulfoxide reductase B3

ClinVar Annotator: match by term: Deafness, autosomal recessive 74

PMID:19650862 PMID:21185009 PMID:25741868 PMID:30303587

NCBI chr10:7,892,745...8,040,196
Ensembl chr10:7,892,640...8,038,043

autosomal recessive nonsyndromic deafness 76

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

spectrin repeat containing nuclear envelope family member 4

ClinVar Annotator: match by term: Deafness, autosomal recessive 76

PMID:23348741 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28958982 More...

NCBI chr 1:116,676,365...116,686,911
Ensembl chr 1:116,670,841...116,680,515

autosomal recessive nonsyndromic deafness 77

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lipoxygenase homology PLAT domains 1

ClinVar Annotator: match by term: Deafness, autosomal recessive 77

PMID:9536098 PMID:16199547 PMID:16936105 PMID:17576681 PMID:19732867 More...

NCBI chr 7:44,662,800...44,828,405
Ensembl chr 7:44,663,182...44,826,858

autosomal recessive nonsyndromic deafness 79

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane protein 203

ClinVar Annotator: match by term: Deafness, autosomal recessive 79

NCBI chr 9:48,464,982...48,466,528
Ensembl chr 9:48,465,201...48,465,611

G

taperin

ClinVar Annotator: match by term: Deafness, autosomal recessive 79

PMID:20170898 PMID:20170899 PMID:24033266 PMID:25741868 PMID:26969326 More...

autosomal recessive nonsyndromic deafness 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane serine protease 3

ClinVar Annotator: match by term: Deafness, autosomal recessive 10 | ClinVar Annotator: match by term: Deafness, autosomal recessive 8 | ClinVar Annotator: match by term: TMPRSS3-related condition

PMID:3285355 PMID:9536098 PMID:11137999 PMID:11424922 PMID:11462234 More...

NCBI chr31:36,706,229...36,730,444
Ensembl chr31:36,707,723...36,730,520

autosomal recessive nonsyndromic deafness 84A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein tyrosine phosphatase receptor type Q

ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION | ClinVar Annotator: match by term: Deafness, autosomal recessive 84

PMID:20346435 PMID:25741868 PMID:26467025

NCBI chr15:22,771,653...23,017,694
Ensembl chr15:22,825,348...23,013,762

autosomal recessive nonsyndromic deafness 84B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

otogelin like

ClinVar Annotator: match by term: Deafness, autosomal recessive 84b | ClinVar Annotator: match by term: OTOGL-related condition

PMID:9536098 PMID:16199547 PMID:17576681 PMID:23122586 PMID:23850727 More...

NCBI chr15:22,623,183...22,754,605
Ensembl chr15:22,556,295...22,753,956

autosomal recessive nonsyndromic deafness 86

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin F

ClinVar Annotator: match by term: Deafness, autosomal recessive 86

PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More...

NCBI chr 6:38,572,883...38,592,465
Ensembl chr 6:38,574,234...38,592,435

G

TBC1 domain family member 24

ClinVar Annotator: match by term: Deafness, autosomal recessive 86

PMID:22211675 PMID:22277662 PMID:24033266 PMID:24387994 PMID:24729539 More...

NCBI chr 6:38,531,547...38,557,472

autosomal recessive nonsyndromic deafness 88

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ELMO domain containing 3

ClinVar Annotator: match by term: Deafness, autosomal recessive 88

PMID:24039609 PMID:25741868 PMID:28492532

NCBI chr17:39,642,101...39,668,079
Ensembl chr17:39,643,676...39,665,726

autosomal recessive nonsyndromic deafness 89

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lysyl-tRNA synthetase 1

ClinVar Annotator: match by term: Deafness, autosomal recessive 89

PMID:21181198 PMID:21427441 PMID:23596069 PMID:23768514 PMID:24033266 More...

NCBI chr 5:75,172,976...75,188,197
Ensembl chr 5:75,173,032...75,188,197

autosomal recessive nonsyndromic deafness 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apoptosis inducing factor mitochondria associated 1

ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder

NCBI chr X:101,275,027...101,307,551
Ensembl chr X:101,275,017...101,307,367

G

centrosomal protein 135

ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder

NCBI chr13:48,202,649...48,280,995
Ensembl chr13:48,202,765...48,280,014

G

diaphanous related formin 1

ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder

NCBI chr 2:36,483,781...36,581,390
Ensembl chr 2:36,485,571...36,581,320

G

H1.4 linker histone, cluster member

ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder

PMID:25741868 PMID:28475857

NCBI chr35:24,091,950...24,092,694

G

immunoglobulin superfamily member 6

ClinVar Annotator: match by term: Deafness, autosomal recessive 9

NCBI chr 6:23,185,442...23,195,432
Ensembl chr 6:23,185,461...23,194,787

G

methyltransferase 9, His-X-His N1(pi)-histidine

ClinVar Annotator: match by term: Deafness, autosomal recessive 9

NCBI chr 6:23,182,800...23,230,288
Ensembl chr 6:23,183,103...23,230,262

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6

ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder

NCBI chr MT:13,582...14,109
Ensembl chr MT:13,582...14,109

G

OPA1 mitochondrial dynamin like GTPase

ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder

PMID:26467025 PMID:28492532 PMID:29952689 PMID:30201499 PMID:33884488 More...

NCBI chr23:52,068,123...52,154,410
Ensembl chr23:52,068,118...52,151,593

G

otoancorin

ClinVar Annotator: match by term: Deafness, autosomal recessive 9

NCBI chr 6:23,106,650...23,175,159
Ensembl chr 6:23,106,804...23,168,380

G

otoferlin

ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder | ClinVar Annotator: match by term: Auditory neuropathy, autosomal recessive, 1 | ClinVar Annotator: match by term: Deafness, autosomal recessive 9 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 | ClinVar Annotator: match by term: OTOF-related condition

PMID:8789454 PMID:9536098 PMID:9657592 PMID:10192385 PMID:10878664 More...

NCBI chr17:20,518,480...20,619,713
Ensembl chr17:20,518,813...20,614,750

G

proteolipid protein 1

ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder

NCBI chr X:77,191,112...77,207,772
Ensembl chr X:77,191,150...77,205,964

G

RAB33A, member RAS oncogene family

ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder

NCBI chr X:101,311,752...101,322,825
Ensembl chr X:101,312,611...101,322,689

G

RAB9B, member RAS oncogene family

ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder

NCBI chr X:77,228,609...77,238,344
Ensembl chr X:77,231,441...77,239,001

G

retinoic acid induced 1

ClinVar Annotator: match by term: Deafness, autosomal recessive 9

PMID:25741868 PMID:27082237 PMID:28492532

NCBI chr 5:41,687,436...41,797,354
Ensembl chr 5:41,688,479...41,808,918

G

solute carrier family 17 member 8

ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder

PMID:27068579 PMID:28492532

NCBI chr15:39,443,790...39,489,988
Ensembl chr15:39,443,518...39,486,595

G

solute carrier family 52 member 2

ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder

NCBI chr13:37,779,896...37,786,653
Ensembl chr13:37,783,562...37,786,621

G

TBC1 domain family member 24

ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder

NCBI chr 6:38,531,547...38,557,472

G

tectorin alpha

ClinVar Annotator: match by term: Deafness, autosomal recessive 9

PMID:18381613 PMID:25008054 PMID:28492532 PMID:33111345

NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147

G

transthyretin

ClinVar Annotator: match by term: Deafness, autosomal recessive 9

PMID:14640030 PMID:15123043 PMID:15299640 PMID:15645642 PMID:17338921 More...

NCBI chr 7:57,940,354...57,947,084
Ensembl chr 7:57,914,381...57,947,058

G

tubulin beta 4A class IVa

ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder

PMID:24706558 PMID:24850488 PMID:24974158 PMID:25168210 PMID:25356970 More...

NCBI chr20:53,697,643...53,702,671
Ensembl chr20:53,697,639...53,702,349

autosomal recessive nonsyndromic deafness 91

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

serpin family B member 6

ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 91

PMID:9536098 PMID:17576681 PMID:20451170 PMID:24033266 PMID:25741868 More...

NCBI chr35:3,234,694...3,245,726
Ensembl chr35:3,234,697...3,262,829

autosomal recessive nonsyndromic deafness 93

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium binding protein 2

ClinVar Annotator: match by term: Deafness, autosomal recessive 93

PMID:9536098 PMID:17576681 PMID:22981119 PMID:24033266 PMID:25741868 More...

NCBI chr18:49,960,656...49,963,889
Ensembl chr18:49,959,544...49,964,268

autosomal recessive nonsyndromic deafness 94

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

asparaginyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 94 | ClinVar Annotator: match by term: Deafness, autosomal recessive 94

PMID:25741868 PMID:25807530 PMID:28492532

NCBI chr21:20,277,707...20,413,624
Ensembl chr21:20,277,507...20,606,736

autosomal recessive nonsyndromic deafness 97

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MET proto-oncogene, receptor tyrosine kinase

susceptibility

ClinVar Annotator: match by term: Deafness, autosomal recessive 97

PMID:12920089 PMID:19318576 PMID:19723643 PMID:20139696 PMID:21774103 More...

NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027

autosomal recessive nonsyndromic deafness 98

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

thrombospondin type laminin G domain and EAR repeats

ClinVar Annotator: match by term: Deafness, autosomal recessive 98

PMID:22678063 PMID:24033266 PMID:25741868 PMID:25855803 PMID:26467025 More...

NCBI chr31:38,273,306...38,340,525
Ensembl chr31:38,272,592...38,337,373

autosomal recessive nonsyndromic deafness 99

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane protein 132E

ClinVar Annotator: match by term: Deafness, autosomal recessive 99

PMID:12673573 PMID:25331638 PMID:25741868 PMID:26467025 PMID:28492532 More...

NCBI chr 9:38,671,687...38,688,875
Ensembl chr 9:38,671,711...38,682,209

autosomal recessive spinocerebellar ataxia 19

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 9 member A1

ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome

PMID:25205112 PMID:25741868 PMID:28492532 PMID:30018422

NCBI chr 2:73,054,742...73,103,364
Ensembl chr 2:73,054,742...73,103,364

autosomal-mitochondrial sensorineural deafness

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrially encoded cytochrome c oxidase I

CTD Direct Evidence: marker/mechanism

NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1

ClinVar Annotator: match by term: Deafness, sensorineural, autosomal-mitochondrial type

PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More...

NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703

Ayme-Gripp syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MAF bZIP transcription factor

ClinVar Annotator: match by term: Ayme-Gripp syndrome | ClinVar Annotator: match by term: Ayme-gripp syndrome

PMID:8834052 PMID:8867660 PMID:12072800 PMID:17935251 PMID:25064449 More...

NCBI chr 5:71,965,291...71,982,903
Ensembl chr 5:71,965,500...71,981,735

Bart-Pumphrey syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gap junction protein beta 2

ClinVar Annotator: match by term: Bart-Pumphrey syndrome

PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More...

NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289

Bartter disease type 4A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

barttin CLCNK type accessory subunit beta

ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Bartter disease type 4A

PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More...

NCBI chr 5:54,225,393...54,239,305
Ensembl chr 5:54,225,389...54,237,110

Bartter disease type 4b

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chloride voltage-gated channel K

ClinVar Annotator: match by term: Bartter disease type 4B

PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 2:81,612,382...81,627,742

Bjornstad syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

ClinVar Annotator: match by term: Bjornstad syndrome with mild mitochondrial complex III deficiency | ClinVar Annotator: match by term: Pili torti-deafness syndrome

PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More...

NCBI chr37:25,261,704...25,266,517
Ensembl chr37:25,264,012...25,266,516

Brown-Vialetto-Van Laere syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 52 member 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:37,779,896...37,786,653
Ensembl chr13:37,783,562...37,786,621

G

solute carrier family 52 member 3

ClinVar Annotator: match by term: Pontobulbar palsy and neurosensory deafness

PMID:22718020 PMID:24033266 PMID:25741868 PMID:26072523 PMID:27702554 More...

NCBI chr24:20,127,527...20,141,070
Ensembl chr24:20,127,520...20,156,003

Brown-Vialetto-Van Laere syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

casein kinase 2 alpha 1

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1

PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532

NCBI chr24:20,333,593...20,390,341

G

RANBP2-type and C3HC4-type zinc finger containing 1

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1

PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532

NCBI chr24:20,423,378...20,440,985
Ensembl chr24:20,423,988...20,441,114

G

scratch family transcriptional repressor 2

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1

PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532

G

solute carrier family 52 member 2

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1

PMID:24253200 PMID:25741868 PMID:27148561 PMID:28492532

NCBI chr13:37,779,896...37,786,653
Ensembl chr13:37,783,562...37,786,621

G

solute carrier family 52 member 3

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1

PMID:2020633 PMID:9536098 PMID:16122634 PMID:16199547 PMID:17576681 More...

NCBI chr24:20,127,527...20,141,070
Ensembl chr24:20,127,520...20,156,003

G

sulfiredoxin 1

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1

PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532

NCBI chr24:20,232,608...20,238,838
Ensembl chr24:20,232,607...20,237,154

G

TBC1 domain family member 20

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1

PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532

NCBI chr24:20,400,647...20,419,652
Ensembl chr24:20,400,791...20,419,655

G

transcription factor 15

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1

PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532

NCBI chr24:20,274,113...20,281,081
Ensembl chr24:20,274,050...20,280,270

Brown-Vialetto-Van Laere syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aarF domain containing kinase 5

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,800,562...37,817,449
Ensembl chr13:37,799,956...37,818,256

G

BOP1 ribosomal biogenesis factor

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,698,635...37,723,803
Ensembl chr13:37,698,698...37,724,457

G

coiled-coil domain containing 166

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,303,107...37,304,843
Ensembl chr13:37,303,254...37,304,649

G

cleavage and polyadenylation specific factor 1

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,817,440...37,827,868
Ensembl chr13:37,817,442...37,825,212

G

cytochrome c1

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,590,919...37,593,239
Ensembl chr13:37,590,912...37,593,156

G

cysteine and histidine rich 1

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,860,452...37,871,982
Ensembl chr13:37,858,424...37,874,624

G

diacylglycerol O-acyltransferase 1

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,745,395...37,761,337
Ensembl chr13:37,741,706...37,756,916

G

eukaryotic translation elongation factor 1 delta

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,240,405...37,247,603
Ensembl chr13:37,239,150...37,255,958

G

epiplakin 1

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,401,099...37,410,739

G

exosome component 4

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,574,359...37,576,331
Ensembl chr13:37,574,527...37,577,380

G

family with sequence similarity 83 member H

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,324,090...37,332,421
Ensembl chr13:37,325,548...37,336,834

G

F-box and leucine rich repeat protein 6

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,780,991...37,783,976
Ensembl chr13:37,780,974...37,785,045

G

forkhead box H1

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,883,554...37,887,324
Ensembl chr13:37,882,687...37,885,319

G

GDP-L-fucose synthase

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,267,119...37,272,101
Ensembl chr13:37,267,122...37,271,967

G

GLI family zinc finger 4

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,029,553...37,035,429
Ensembl chr13:37,028,512...37,035,454

G

glycosylphosphatidylinositol anchor attachment 1

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,577,162...37,580,346
Ensembl chr13:37,576,354...37,580,345

G

glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,005,499...37,007,214
Ensembl chr13:37,005,512...37,007,074

G

glutamate ionotropic receptor NMDA type subunit associated protein 1

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,512,129...37,514,303
Ensembl chr13:37,512,217...37,514,257

G

gasdermin D

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,221,219...37,226,912
Ensembl chr13:37,193,022...37,228,360

G

HGH1 homolog

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,621,587...37,624,523
Ensembl chr13:37,621,605...37,623,973

G

heat shock transcription factor 1

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,724,741...37,745,259
Ensembl chr13:37,724,759...37,745,252

G

kinesin family member C2

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,875,611...37,883,166
Ensembl chr13:37,875,998...37,882,974

G

MAF1 homolog, negative regulator of RNA polymerase III

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,598,819...37,601,713
Ensembl chr13:37,598,600...37,601,591

G

MAF bZIP transcription factor A

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,122,653...37,123,895
Ensembl chr13:37,122,731...37,123,771

G

mitogen-activated protein kinase 15

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,317,061...37,322,792
Ensembl chr13:37,316,424...37,322,792

G

maestro heat like repeat family member 1

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,645,810...37,698,550
Ensembl chr13:37,645,876...37,698,342

G

maestro heat like repeat family member 6

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,229,270...37,234,677
Ensembl chr13:37,229,886...37,234,609

G

nicotinate phosphoribosyltransferase

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,235,985...37,239,261
Ensembl chr13:37,235,045...37,239,224

G

nuclear receptor binding protein 2

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,391,385...37,398,691
Ensembl chr13:37,392,436...37,398,076

G

5-oxoprolinase, ATP-hydrolysing

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,555,035...37,564,241
Ensembl chr13:37,555,045...37,564,810

G

plectin

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,449,379...37,503,752
Ensembl chr13:37,450,248...37,513,523

G

poly(U) binding splicing factor 60

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,375,781...37,387,969
Ensembl chr13:37,375,651...37,387,875

G

pyrroline-5-carboxylate reductase 3

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,259,139...37,264,337
Ensembl chr13:37,259,139...37,264,337

G

rhophilin Rho GTPase binding protein 1

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,081,527...37,090,628
Ensembl chr13:37,046,923...37,090,922

G

scribble planar cell polarity protein

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,356,405...37,374,765
Ensembl chr13:37,356,405...37,374,681

G

scratch family transcriptional repressor 1

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

G

scleraxis bHLH transcription factor

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,701,781...37,704,949
Ensembl chr13:37,703,232...37,704,657

G

SHANK associated RH domain interactor

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,594,155...37,598,510
Ensembl chr13:37,594,203...37,599,456

G

solute carrier family 39 member 4

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,833,073...37,838,304
Ensembl chr13:37,833,156...37,838,522

G

solute carrier family 52 member 2

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 | ClinVar Annotator: match by term: Riboflavin transporter deficiency type 2

PMID:9536098 PMID:10797435 PMID:16199547 PMID:17576681 PMID:20301336 More...

NCBI chr13:37,779,896...37,786,653
Ensembl chr13:37,783,562...37,786,621

G

spermatogenesis and centriole associated 1

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,530,211...37,550,797

G

tigger transposable element derived 5

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,254,327...37,258,521
Ensembl chr13:37,254,327...37,256,279

G

transmembrane protein 249

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,778,698...37,780,774
Ensembl chr13:37,778,730...37,780,385

G

tonsoku like, DNA repair protein

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,846,010...37,857,633
Ensembl chr13:37,846,149...37,857,668

G

VPS28 subunit of ESCRT-I

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,841,524...37,845,954
Ensembl chr13:37,841,518...37,846,339

G

zinc finger CCCH-type containing 3

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,128,915...37,214,643
Ensembl chr13:37,130,999...37,214,997

G

ZFP41 zinc finger protein

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,015,733...37,027,459

G

zinc finger protein 623

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,280,457...37,291,676
Ensembl chr13:37,287,946...37,289,442

G

zinc finger protein 696

ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2

PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More...

NCBI chr13:37,047,297...37,067,493
Ensembl chr13:37,046,923...37,090,922

CAPOS Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase Na+/K+ transporting subunit alpha 3

ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss

PMID:8733056 PMID:15260953 PMID:18414213 PMID:18675996 PMID:19652145 More...

NCBI chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916

CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

isoleucyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia

PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 More...

NCBI chr38:14,864,004...14,925,684
Ensembl chr38:14,863,998...14,925,635

Charcot-Marie-Tooth disease type 1E

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gap junction protein beta 1

ClinVar Annotator: match by term: DEAFNESS WITH CHARCOT-MARIE-TOOTH DISEASE

PMID:12402337 PMID:15241803 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr X:55,565,995...55,575,332
Ensembl chr X:55,573,808...55,574,659

G

peripheral myelin protein 22

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease and deafness | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1E

PMID:7139106 PMID:7829101 PMID:8995589 PMID:9324088 PMID:9544841 More...

NCBI chr 5:38,806,731...38,839,002
Ensembl chr 5:38,807,826...38,838,971

Charcot-Marie-Tooth disease type 2J

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myelin protein zero

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities

PMID:8664899 PMID:8816708 PMID:9187667 PMID:9452091 PMID:10071056 More...

NCBI chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451

Charcot-Marie-Tooth disease X-linked recessive 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apoptosis inducing factor mitochondria associated 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation

PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 More...

NCBI chr X:101,275,027...101,307,551
Ensembl chr X:101,275,017...101,307,367

G

RAB33A, member RAS oncogene family

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation

PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 More...

NCBI chr X:101,311,752...101,322,825
Ensembl chr X:101,312,611...101,322,689

Charcot-Marie-Tooth disease X-linked recessive 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphoribosyl pyrophosphate synthetase 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: Familial opticoacoustic nerve degeneration and polyneuropathy | ClinVar Annotator: match by term: Optic atrophy, neural deafness, and distal neurogenic amyotrophy

PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 PMID:25182139 More...

NCBI chr X:81,150,537...81,171,521
Ensembl chr X:81,150,536...81,212,689

Chudley-Mccullough syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chloride channel CLIC like 1

ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: Deafness, autosomal recessive 82 | ClinVar Annotator: match by term: Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 6:42,807,432...42,829,317
Ensembl chr 6:42,807,064...42,829,273

G

G protein signaling modulator 2

ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: Deafness, autosomal recessive 82 | ClinVar Annotator: match by term: Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction

PMID:10449658 PMID:20602914 PMID:21348867 PMID:22578326 PMID:22987632 More...

NCBI chr 6:42,828,611...42,878,334
Ensembl chr 6:42,824,455...42,868,690

Combined Pituitary Hormone Deficiency, 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LIM homeobox 3

ClinVar Annotator: match by term: LHX3-related condition | ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome

PMID:10835633 PMID:12780757 PMID:16199547 PMID:16394081 PMID:16940453 More...

NCBI chr 9:49,248,555...49,254,128
Ensembl chr 9:49,248,621...49,254,118

Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 3

ClinVar Annotator: match by term: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia | ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM)

PMID:17236138 PMID:18435799 PMID:19950373 PMID:21306635 PMID:21480479 More...

NCBI chr18:48,382,819...48,388,453
Ensembl chr18:48,383,222...48,389,009

corneal dystrophy-perceptive deafness syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 4 member 11

ClinVar Annotator: match by term: Corneal dystrophy and sensorineural deafness | ClinVar Annotator: match by term: Corneal dystrophy-perceptive deafness syndrome

PMID:16199547 PMID:16767101 PMID:16825429 PMID:17220209 PMID:17397048 More...

NCBI chr24:18,057,437...18,068,420
Ensembl chr24:18,057,517...18,068,425

craniofacial-deafness-hand syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired box 3

ClinVar Annotator: match by term: Craniofacial-deafness-hand syndrome

PMID:6859126 PMID:8589691 PMID:8664898 PMID:8863157 PMID:9584079 More...

NCBI chr37:28,346,476...28,443,648
Ensembl chr37:28,346,563...28,444,561

Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin VIIA

ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness

PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279

G

vacuolar protein sorting 13 homolog B

ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness

PMID:25741868 PMID:26539891 PMID:28492532

NCBI chr13:1,101,226...1,834,933
Ensembl chr13:1,101,610...1,871,225

De Hauwere syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box C1

ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities

G

paired like homeodomain 2

ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities

NCBI chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273

deafness-dystonia-optic neuronopathy syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Bruton tyrosine kinase

ClinVar Annotator: match by term: Deafness dystonia syndrome

NCBI chr X:75,270,952...75,302,663
Ensembl chr X:75,270,979...75,302,562

G

translocase of inner mitochondrial membrane 8A

ClinVar Annotator: match by term: Deafness dystonia syndrome

PMID:8841189 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 More...

NCBI chr X:75,267,437...75,270,288
Ensembl chr X:75,267,450...75,270,288

Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mesencephalic astrocyte derived neurotrophic factor

ClinVar Annotator: match by term: Diabetes, deafness, developmental delay, and short stature syndrome

PMID:26077850 PMID:33500254

NCBI chr20:38,196,427...38,200,114
Ensembl chr20:38,196,425...38,199,992

dilated cardiomyopathy 1J

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EYA transcriptional coactivator and phosphatase 4

ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Dilated cardiomyopathy 1J

PMID:9536098 PMID:10769282 PMID:11159937 PMID:15735644 PMID:16199547 More...

NCBI chr 1:26,208,514...26,514,601
Ensembl chr 1:26,272,448...26,514,201

Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase H+ transporting V1 subunit B1

ClinVar Annotator: match by term: Renal tubular acidosis with progressive nerve deafness

PMID:8651253 PMID:9536098 PMID:9916796 PMID:12414817 PMID:12566520 More...

NCBI chr10:69,261,311...69,287,540
Ensembl chr10:69,252,926...69,287,542

Distal Renal Tubular Acidosis 3, Autosomal Recessive

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase H+ transporting V0 subunit a4

ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Recessive | ClinVar Annotator: match by term: RTA, distal, autosomal recessive | ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing | ClinVar Annotator: match by term: Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss

PMID:9536098 PMID:10973252 PMID:12414817 PMID:16611712 PMID:17576681 More...

NCBI chr16:9,864,938...9,949,740
Ensembl chr16:9,885,149...9,949,708

G

solute carrier family 4 member 1

ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing

PMID:25741868 PMID:28492532 PMID:35738466

NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915

G

transmembrane protein 213

ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing

NCBI chr16:9,859,553...9,865,051
Ensembl chr16:9,834,213...9,865,053

dominant optic atrophy plus syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

OPA1 mitochondrial dynamin like GTPase

ClinVar Annotator: match by term: OPA1-related optic atrophy with or without extraocular features | ClinVar Annotator: match by term: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy

PMID:4058877 PMID:6493699 PMID:9490303 PMID:9917792 PMID:11017079 More...

NCBI chr23:52,068,123...52,154,410
Ensembl chr23:52,068,118...52,151,593

Donnai-Barrow syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LMBR1 domain containing 1

ClinVar Annotator: match by term: Donnai-Barrow syndrome

PMID:19136951 PMID:25741868 PMID:28492532

NCBI chr12:32,274,056...32,383,737
Ensembl chr12:32,274,412...32,383,578

G

LDL receptor related protein 2

ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: LRP2-related condition

PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 More...

NCBI chr36:13,910,450...14,107,081
Ensembl chr36:13,911,865...14,107,546

DOORS syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TBC1 domain family member 24

ClinVar Annotator: match by term: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME | ClinVar Annotator: match by term: DOORS syndrome | ClinVar Annotator: match by term: Digitorenocerebral syndrome

PMID:3402014 PMID:16199547 PMID:20727515 PMID:22211675 PMID:23526554 More...

NCBI chr 6:38,531,547...38,557,472

EAST syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase Na+/K+ transporting subunit alpha 4

ClinVar Annotator: match by term: EAST syndrome

NCBI chr38:22,023,176...22,080,656
Ensembl chr38:22,023,221...22,080,604

G

immunoglobulin superfamily member 8

ClinVar Annotator: match by term: EAST syndrome

NCBI chr38:22,093,463...22,100,009
Ensembl chr38:22,062,591...22,100,020

G

potassium inwardly rectifying channel subfamily J member 10

ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy | ClinVar Annotator: match by term: SeSAME-like syndrome | ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome
Ataxia, cerebellar, KCNJ10-related

OMIM
ClinVar
OMIA

PMID:2061870 PMID:4747697 PMID:15320590 PMID:19289823 PMID:19420365 More...

NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813

G

potassium inwardly rectifying channel subfamily J member 9

ClinVar Annotator: match by term: EAST syndrome

NCBI chr38:22,100,627...22,104,165
Ensembl chr38:22,100,621...22,104,167

Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD151 molecule

ClinVar Annotator: match by term: Epidermolysis bullosa simplex 7, with nephropathy and deafness

PMID:15265795 PMID:25741868 PMID:25741871 PMID:28492532

NCBI chr18:45,195,875...45,200,066
Ensembl chr18:45,196,237...45,200,081

Familial Visceral Neuropathy 2, Autosomal Recessive

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

erb-b2 receptor tyrosine kinase 2

ClinVar Annotator: match by term: Visceral neuropathy, familial, 2, autosomal recessive

NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294

Griscelli syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RAB27A, member RAS oncogene family

ClinVar Annotator: match by term: Griscelli syndrome

PMID:10835631 PMID:12148598 PMID:16551969 PMID:18350256 PMID:19953648 More...

NCBI chr30:20,633,576...20,706,240
Ensembl chr30:20,635,400...20,690,521

Griscelli syndrome type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin VA

ClinVar Annotator: match by term: Griscelli syndrome type 1 | ClinVar Annotator: match by term: Griscelli syndrome, cutaneous and neurologic type

PMID:9207796 PMID:9536098 PMID:10704277 PMID:12058346 PMID:17576681 More...

NCBI chr30:17,990,521...18,122,160
Ensembl chr30:17,888,419...18,213,061

Griscelli syndrome type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell cycle progression 1

ClinVar Annotator: match by term: Griscelli syndrome type 2

NCBI chr30:20,756,381...20,795,553
Ensembl chr30:20,716,761...20,795,586

G

dynein axonemal assembly factor 4

ClinVar Annotator: match by term: Griscelli syndrome type 2

NCBI chr30:20,778,497...20,871,304
Ensembl chr30:20,815,775...20,871,220

G

piercer of microtubule wall 2

ClinVar Annotator: match by term: Griscelli syndrome type 2

NCBI chr30:20,795,024...20,809,659

G

phosphatidylinositol glycan anchor biosynthesis class B

ClinVar Annotator: match by term: Griscelli syndrome type 2

PMID:10835631 PMID:23160464 PMID:28492532

NCBI chr30:20,718,622...20,756,394
Ensembl chr30:20,718,274...20,756,365

G

RAB27A, member RAS oncogene family

ClinVar Annotator: match by term: Griscelli syndrome type 2 | ClinVar Annotator: match by term: Partial albinism and immunodeficiency syndrome

PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12148598 More...

NCBI chr30:20,633,576...20,706,240
Ensembl chr30:20,635,400...20,690,521

Griscelli syndrome type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

melanophilin

ClinVar Annotator: match by term: Griscelli syndrome type 3 | ClinVar Annotator: match by term: Hypomelanosis with no immunologic or neurologic manifestations

PMID:12148598 PMID:12897212 PMID:21883982 PMID:22711375 PMID:25741868 More...

NCBI chr25:48,121,499...48,167,535
Ensembl chr25:48,121,499...48,170,710

G

myosin VA

ClinVar Annotator: match by term: Griscelli syndrome type 3

PMID:12148598 PMID:12897212 PMID:22711375 PMID:25283056

NCBI chr30:17,990,521...18,122,160
Ensembl chr30:17,888,419...18,213,061

Hearing Loss, Cisplatin-Induced

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acylphosphatase 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,978,903...55,227,085
Ensembl chr10:55,082,491...55,226,933

G

calcium/calmodulin dependent protein kinase II alpha

treatment

NCBI chr 4:58,800,818...58,865,830
Ensembl chr 4:58,800,813...58,865,830

G

calcium/calmodulin dependent protein kinase II beta

treatment

G

catalase

protein:decreased expression:cochlear:

NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447

G

catechol-O-methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008

G

glycogen synthase kinase 3 beta

treatment

NCBI chr33:23,458,369...23,659,878
Ensembl chr33:23,463,767...23,659,666

G

thiopurine S-methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr35:16,928,991...16,953,891
Ensembl chr35:16,929,240...16,953,229

Hearing Loss, Noise-Induced

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activity regulated cytoskeleton associated protein

NCBI chr13:36,743,027...36,744,266

G

brain derived neurotrophic factor

protein:increased expression:cochlea:

PMID:17275194 PMID:19925854 PMID:22723694

RGD:8636263 RGD:8655559 RGD:8655575

NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480

G

calbindin 1

NCBI chr29:35,551,836...35,572,985
Ensembl chr29:35,552,436...35,572,925

G

catalase

susceptibility
treatment
severity

DNA:SNPs,haplotype::

PMID:17567781 PMID:18212468 PMID:23179931

RGD:9068906 RGD:9068923 RGD:9190810

NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447

G

C-C motif chemokine ligand 2

mRNA:increased expression:cochlea (mouse)

NCBI chr 9:39,008,187...39,009,932

G

C-C motif chemokine receptor 2

NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698

G

cadherin related 23

no_association

DNA:SNPs: :rs1227049, rs1227051 (human)
DNA:SNPs: :rs1227049, rs3802711 (human)

NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131

G

cyclin dependent kinase inhibitor 1A

NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281

G

complement factor I

mRNA:increased expression:spiral organ of cochlea, sensory epithelium

NCBI chr32:29,936,447...29,986,755
Ensembl chr32:29,936,393...29,985,724

G

contactin 1

NCBI chr27:12,655,021...13,005,536
Ensembl chr27:12,657,287...12,920,315

G

gamma-aminobutyric acid type A receptor subunit alpha1

NCBI chr 4:49,006,981...49,065,205
Ensembl chr 4:49,009,495...49,062,581

G

glutamate decarboxylase 1

NCBI chr36:15,351,289...15,391,701
Ensembl chr36:15,349,683...15,391,824

G

growth associated protein 43

NCBI chr33:19,668,491...19,770,509
Ensembl chr33:19,656,835...19,770,408

G

gap junction protein beta 2

protein:increased expression:cochlea:

NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289

G

hypoxia inducible factor 1 subunit alpha

treatment

NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692

G

heat shock protein 70

DNA:SNP, haplotype: :rs1061581 (human)

NCBI chr12:1,285,282...1,287,670

G

intercellular adhesion molecule 1

NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914

G

insulin like growth factor 1

NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794

G

interleukin 6

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

potassium voltage-gated channel subfamily E regulatory subunit 1

ClinVar Annotator: match by term: Noise induced hearing loss

PMID:7828904 PMID:9445165 PMID:12402336 PMID:14661677 PMID:14760488 More...

NCBI chr31:29,858,428...29,868,315

G

potassium voltage-gated channel subfamily Q member 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:46,554,390...46,830,533
Ensembl chr18:46,518,908...46,830,043

G

potassium voltage-gated channel subfamily Q member 4

CTD Direct Evidence: marker/mechanism

NCBI chr15:2,203,938...2,257,152
Ensembl chr15:2,205,276...2,242,093

G

heat shock 70 kDa protein 1-like

DNA:SNP, haplotype: :rs2227956 (human)

NCBI chr12:1,281,164...1,285,010
Ensembl chr12:1,281,472...1,285,440

G

microRNA mir-107

CTD Direct Evidence: marker/mechanism

NCBI chr28:4,484,653...4,484,710
Ensembl chr28:4,484,646...4,484,718

G

microRNA mir-10a

CTD Direct Evidence: marker/mechanism

NCBI chr 9:24,842,171...24,842,233
Ensembl chr 9:24,842,145...24,842,248

G

microRNA mir-146b

CTD Direct Evidence: marker/mechanism

NCBI chr28:14,940,550...14,940,610
Ensembl chr28:14,940,550...14,940,610

G

microRNA mir-183

CTD Direct Evidence: marker/mechanism

NCBI chr14:7,068,542...7,068,603
Ensembl chr14:7,068,519...7,068,625

G

microRNA mir-186

CTD Direct Evidence: marker/mechanism

NCBI chr 6:74,881,615...74,881,675
Ensembl chr 6:74,881,601...74,881,686

G

microRNA mir-190b

CTD Direct Evidence: marker/mechanism

NCBI chr 7:43,037,530...43,037,607
Ensembl chr 7:43,037,530...43,037,607

G

microRNA mir-200c

CTD Direct Evidence: marker/mechanism

NCBI chr27:38,082,097...38,082,159
Ensembl chr27:38,082,091...38,082,169

G

microRNA mir-30d

CTD Direct Evidence: marker/mechanism

NCBI chr13:30,910,306...30,910,365
Ensembl chr13:30,910,306...30,910,365

G

microRNA mir-30e

CTD Direct Evidence: marker/mechanism

NCBI chr15:2,283,306...2,283,369
Ensembl chr15:2,283,306...2,283,369

G

microRNA mir-331

CTD Direct Evidence: marker/mechanism

NCBI chr15:35,234,750...35,234,839
Ensembl chr15:35,234,740...35,234,850

G

microRNA mir-339-1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:15,853,520...15,853,577
Ensembl chr 6:15,853,520...15,853,577

G

microRNA mir-381

CTD Direct Evidence: marker/mechanism

NCBI chr 8:69,274,983...69,275,057

G

microRNA mir-532

CTD Direct Evidence: marker/mechanism

NCBI chr X:42,774,680...42,774,738
Ensembl chr X:42,774,680...42,774,738

G

microRNA mir-99b

CTD Direct Evidence: marker/mechanism

NCBI chr 1:105,400,925...105,400,984
Ensembl chr 1:105,400,925...105,400,984

G

matrix metallopeptidase 7

NCBI chr 5:29,187,902...29,196,157
Ensembl chr 5:29,187,851...29,196,153

G

NIN1 (RPN12) binding protein 1 homolog

mRNA:increased expression:cochlea

NCBI chr 5:79,958,145...79,966,166
Ensembl chr 5:79,945,446...79,966,147

G

8-oxoguanine DNA glycosylase

susceptibility

CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.S326C (rs1052133) (human)

NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264

G

paraoxonase 2

susceptibility

DNA:SNPs: :multiple

NCBI chr14:20,652,905...20,680,945
Ensembl chr14:20,652,905...20,680,980

G

protein C, inactivator of coagulation factors Va and VIIIa

treatment

NCBI chr19:23,173,626...23,183,634
Ensembl chr19:23,173,635...23,183,563

G

prostaglandin E receptor 4

resistance

NCBI chr 4:68,663,362...68,676,241
Ensembl chr 4:68,663,364...68,676,358

G

selectin L

NCBI chr 7:28,906,752...28,927,959
Ensembl chr 7:28,906,809...29,094,008

G

solute carrier family 26 member 5

mRNA, protein:increased expression:cochlea (mouse)

NCBI chr18:16,783,795...16,841,946
Ensembl chr18:16,788,759...16,839,940

G

superoxide dismutase 1

susceptibility
severity

DNA:snps, haplotypes:introns:multiple (human)
DNA:snps:introns:IVS2+193T>G (rs10432782), IVS3-251A>G (rs2070424) (human)

PMID:10436316 PMID:19895330 PMID:22931816

RGD:8655611 RGD:8655851 RGD:8655966

NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815

G

superoxide dismutase 2

susceptibility

DNA:polymorphisms:intron:IVS3-23T>G, IVS3-60T>G (human)
DNA:SNP:cds:p.V16A(rs4880)(human)

PMID:15345661 PMID:20534900

RGD:8158044 RGD:8158046

NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706

G

SRC proto-oncogene, non-receptor tyrosine kinase

treatment

NCBI chr24:25,982,499...26,019,748
Ensembl chr24:25,999,048...26,018,077

G

TAO kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:43,501,752...43,660,077
Ensembl chr 9:43,559,708...43,651,377

G

tumor necrosis factor

mRNA:increased expression:cochlea:

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

Hearing Loss, Unilateral Sensorineural

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MHC class I DLA-88

Unilateral Childhood Sensorineural Hearing Loss; DNA:polymorphism:cds:HLA-Bw54 (human)

NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690

Heimler syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GATA zinc finger domain containing 1

ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C

PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More...

NCBI chr14:18,043,857...18,054,340
Ensembl chr14:18,043,671...18,052,979

G

peroxisomal biogenesis factor 1

ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C

PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 More...

NCBI chr14:18,073,759...18,144,489
Ensembl chr14:18,073,758...18,143,152

G

peroxisomal biogenesis factor 26

ClinVar Annotator: match by term: Heimler syndrome 1

NCBI chr27:45,675,537...45,688,026
Ensembl chr27:45,675,472...45,725,681

G

peroxisomal biogenesis factor 6

CTD Direct Evidence: marker/mechanism

NCBI chr12:11,503,184...11,514,977
Ensembl chr12:11,503,240...11,514,929

HID Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gap junction protein beta 2

ClinVar Annotator: match by term: HID SYNDROME | ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness

PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More...

NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289

high myopia-sensorineural deafness syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SLIT and NTRK like family member 6

ClinVar Annotator: match by term: Deafness and myopia | ClinVar Annotator: match by term: High myopia-sensorineural deafness syndrome

PMID:23543054 PMID:23946138 PMID:24033266 PMID:25363768 PMID:25741868 More...

NCBI chr22:37,911,533...37,918,273
Ensembl chr22:37,912,612...37,925,177

High-Frequency Hearing Loss

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor necrosis factor

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

histiocytosis-lymphadenopathy plus syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 29 member 3

ClinVar Annotator: match by term: Faisalabad histiocytosis | ClinVar Annotator: match by term: H syndrome | ClinVar Annotator: match by term: Histiocytosis-lymphadenopathy plus syndrome

PMID:9536098 PMID:9545394 PMID:16118898 PMID:16155931 PMID:16199547 More...

NCBI chr 4:22,094,899...22,135,066
Ensembl chr 4:22,097,764...22,133,197

Hittner Hirsch Kreh Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chromodomain helicase DNA binding protein 7

ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome

PMID:9536098 PMID:16763960 PMID:17576681 PMID:17661815 PMID:18073582 More...

NCBI chr29:11,115,865...11,284,713
Ensembl chr29:11,156,340...11,283,627

G

E1A binding protein p300

ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome

NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396

G

poly(U) binding splicing factor 60

ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome

PMID:25741868 PMID:29300383

NCBI chr13:37,375,781...37,387,969
Ensembl chr13:37,375,651...37,387,875

G

semaphorin 3E

ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome

PMID:9536098 PMID:15235037 PMID:17576681 PMID:25741868 PMID:25985275 More...

NCBI chr18:22,881,135...22,982,549
Ensembl chr18:22,881,133...23,116,696

hypoparathyroidism-deafness-renal disease syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA binding domain containing 7

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:21,631,458...21,639,510

G

aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,661,333...30,691,283
Ensembl chr 2:30,674,558...30,690,043

G

aldo-keto reductase family 1 member E2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,694,119...30,706,693
Ensembl chr 2:30,694,249...30,706,637

G

ankyrin repeat domain 16

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,095,941...30,105,739
Ensembl chr 2:30,095,548...30,105,212

G

ADP ribosylation factor like GTPase 5B

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:18,441,251...18,476,989
Ensembl chr 2:18,445,860...18,471,066

G

ankyrin repeat and SOCS box containing 13

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,244,619...30,314,314
Ensembl chr 2:30,293,451...30,311,817

G

ATP synthase F1 subunit gamma

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:28,306,857...28,325,149
Ensembl chr 2:28,306,857...28,325,116

G

BEN domain containing 7

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:22,975,673...23,057,029
Ensembl chr 2:22,977,139...23,054,867

G

complement C1q like 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:20,300,916...20,308,393
Ensembl chr 2:20,301,008...20,307,603

G

calcium voltage-gated channel auxiliary subunit beta 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:18,537,100...18,787,728
Ensembl chr 2:18,538,620...18,902,286

G

calmodulin like 5

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,431,088...30,431,950
Ensembl chr 2:30,429,338...30,431,948

G

calcium/calmodulin dependent protein kinase ID

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:23,680,395...24,113,922
Ensembl chr 2:23,685,672...24,114,084

G

coiled-coil domain containing 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:23,477,696...23,593,107
Ensembl chr 2:23,477,696...23,591,036

G

cell division cycle 123

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:24,184,780...24,239,495
Ensembl chr 2:24,184,807...24,240,081

G

cerebral dopamine neurotrophic factor

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:21,795,701...21,814,359
Ensembl chr 2:21,795,821...21,814,320

G

CUGBP Elav-like family member 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:25,003,810...25,818,264
Ensembl chr 2:25,004,580...25,520,136

G

cubilin

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:19,784,125...20,041,840
Ensembl chr 2:19,784,198...20,041,839

G

DNA cross-link repair 1C

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:21,688,822...21,725,021
Ensembl chr 2:21,688,766...21,724,248

G

dehydrogenase E1 and transketolase domain containing 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:24,298,323...24,349,848
Ensembl chr 2:24,299,789...24,349,899

G

enoyl-CoA hydratase domain containing 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:24,600,563...24,619,948
Ensembl chr 2:24,599,709...24,619,958

G

family with sequence similarity 107 member B

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:22,015,294...22,085,890
Ensembl chr 2:21,859,935...22,083,555

G

family with sequence similarity 171 member A1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:21,445,602...21,505,564
Ensembl chr 2:21,445,726...21,504,249

G

F-box DNA helicase 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,047,994...30,095,761
Ensembl chr 2:30,048,567...30,095,696

G

FERM domain containing 4A

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:22,128,030...22,857,707
Ensembl chr 2:22,248,890...22,857,220

G

GATA binding protein 3

ClinVar Annotator: match by term: GATA3-related condition | ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

PMID:9536098 PMID:10935639 PMID:11389161 PMID:14985365 PMID:15705923 More...

NCBI chr 2:28,068,143...28,098,445
Ensembl chr 2:28,069,051...28,087,760

G

GDP dissociation inhibitor 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,150,769...30,168,957
Ensembl chr 2:30,150,769...30,169,110

G

3-hydroxyacyl-CoA dehydratase 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:19,362,488...19,383,090
Ensembl chr 2:19,362,403...19,383,090

G

interleukin 15 receptor subunit alpha

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:29,981,385...30,034,364
Ensembl chr 2:29,981,234...30,038,945

G

interleukin 2 receptor subunit alpha

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:29,892,130...29,948,926
Ensembl chr 2:29,894,125...29,944,643

G

integrin subunit alpha 8

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:21,034,630...21,244,304
Ensembl chr 2:21,075,653...21,241,951

G

inter-alpha-trypsin inhibitor heavy chain 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:28,367,842...28,403,610
Ensembl chr 2:28,367,908...28,403,667

G

inter-alpha-trypsin inhibitor heavy chain 5

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:28,437,907...28,507,008
Ensembl chr 2:28,441,056...28,506,966

G

Kin17 DNA and RNA binding protein

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:28,325,243...28,360,790
Ensembl chr 2:28,324,723...28,360,773

G

calmodulin-like protein 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,410,830...30,411,981

G

phytanoyl-CoA hydroxylase-like

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:23,185,901...23,206,719
Ensembl chr 2:23,185,782...23,253,497

G

minichromosome maintenance 10 replication initiation factor

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:23,288,249...23,344,060
Ensembl chr 2:23,292,253...23,344,719

G

meiosis/spermiogenesis associated 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:21,675,003...21,684,020
Ensembl chr 2:21,675,012...21,679,456

G

MINDY lysine 48 deubiquitinase 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:20,948,946...21,014,938
Ensembl chr 2:20,865,946...21,014,429

G

neuroepithelial cell transforming 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,450,946...30,463,280
Ensembl chr 2:30,450,965...30,492,074

G

N-myristoyltransferase 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:21,569,692...21,609,585
Ensembl chr 2:21,556,246...21,609,325

G

NOP2/Sun RNA methyltransferase 6

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:18,477,150...18,534,716
Ensembl chr 2:18,477,211...18,534,710

G

nudix hydrolase 5

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:24,239,632...24,266,763
Ensembl chr 2:24,239,627...24,264,469

G

optineurin

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:23,356,471...23,390,569
Ensembl chr 2:23,357,237...23,392,511

G

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:29,716,866...29,785,643
Ensembl chr 2:29,716,752...29,801,936

G

protein kinase C theta

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:29,319,123...29,505,338
Ensembl chr 2:29,318,870...29,505,337

G

proline and serine rich 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:24,510,659...24,550,712
Ensembl chr 2:24,512,531...24,550,709

G

pre-mRNA processing factor 18

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:22,868,184...22,922,647

G

phosphotriesterase related

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:20,237,673...20,377,290
Ensembl chr 2:20,280,990...20,342,390

G

RNA binding motif protein 17

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:29,828,720...29,853,922
Ensembl chr 2:29,829,210...29,853,841

G

ribonuclease P/MRP subunit p38

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:21,612,114...21,617,371
Ensembl chr 2:21,612,200...21,614,485

G

Ras suppressor protein 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:20,050,029...20,299,179
Ensembl chr 2:20,050,117...20,299,184

G

SEC61 translocon subunit alpha 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:24,267,260...24,292,466
Ensembl chr 2:24,267,271...24,349,736

G

selenophosphate synthetase 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:23,147,303...23,178,808
Ensembl chr 2:23,146,353...23,177,174

G

Scm like with four mbt domains 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:28,637,365...28,856,505
Ensembl chr 2:28,661,058...28,853,364

G

solute carrier family 39 member 12

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:18,991,734...19,064,899
Ensembl chr 2:18,992,031...19,063,647

G

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:19,392,690...19,618,127
Ensembl chr 2:19,482,468...19,616,339

G

signal transducing adaptor molecule

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:19,264,392...19,344,187
Ensembl chr 2:19,266,055...19,344,045

G

SUV39H2 histone lysine methyltransferase

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:21,715,677...21,749,732
Ensembl chr 2:21,728,964...21,749,597

G

TATA-box binding protein associated factor 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:28,121,719...28,298,961
Ensembl chr 2:28,122,649...28,298,946

G

transcription activation suppressor family member 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,170,539...30,244,738
Ensembl chr 2:30,170,994...30,244,726

G

tRNA aspartic acid methyltransferase 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:19,702,561...19,763,744
Ensembl chr 2:19,677,444...19,763,741

G

tubulin alpha like 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,523,678...30,531,909
Ensembl chr 2:30,523,652...30,532,263

G

upper zone of growth plate and cartilage matrix associated

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:23,287,410...23,307,116
Ensembl chr 2:23,287,551...23,298,035

G

urocortin 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,541,316...30,547,839
Ensembl chr 2:30,541,779...30,542,282

G

UPF2 regulator of nonsense mediated mRNA decay

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:24,370,961...24,473,437
Ensembl chr 2:24,371,058...24,472,140

G

USP6 N-terminal like

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:24,724,454...24,894,052
Ensembl chr 2:24,743,120...24,891,668

G

vimentin

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:19,671,316...19,679,367
Ensembl chr 2:19,671,316...19,679,466

Insulin-Like Growth Factor I Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

insulin like growth factor 1

ClinVar Annotator: match by term: Growth retardation with sensorineural deafness and mental retardation | ClinVar Annotator: match by term: Insulin-like growth factor I deficiency

PMID:8857020 PMID:15769976 PMID:18317720 PMID:19240240 PMID:21915365 More...

NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794

Johanson-Blizzard syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ubiquitin protein ligase E3 component n-recognin 1

ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness

PMID:16311597 PMID:18553553 PMID:19006206 PMID:23778732 PMID:24033266 More...

NCBI chr30:9,869,769...10,006,994
Ensembl chr30:9,870,021...10,006,947

Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chromosome 26 C12orf43 homolog

ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive

NCBI chr26:16,826,481...16,835,832
Ensembl chr26:16,826,489...16,835,796

G

HNF1 homeobox A

ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive

NCBI chr26:16,805,690...16,826,065
Ensembl chr26:16,805,690...16,824,790

G

VPS33B late endosome and lysosome associated

ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive

PMID:25741868 PMID:28017832

NCBI chr 3:53,220,199...53,239,738
Ensembl chr 3:53,220,194...53,239,732

Kilquist Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 12 member 2

ClinVar Annotator: match by term: Kilquist syndrome

PMID:25741868 PMID:25741909 PMID:25741913 PMID:28492532 PMID:30740830 More...

NCBI chr11:17,143,943...17,256,248
Ensembl chr11:17,143,943...17,253,695

Marshall syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type XI alpha 1 chain

susceptibility

ClinVar Annotator: match by term: Deafness, myopia, cataract, saddle nose-Marshall type | ClinVar Annotator: match by term: Marshall syndrome

PMID:9129742 PMID:9529347 PMID:9536098 PMID:9792885 PMID:10486316 More...

NCBI chr 6:47,425,387...47,622,189
Ensembl chr 6:47,425,307...47,621,012

G

protocadherin 12

ClinVar Annotator: match by term: Marshall syndrome

PMID:25741868 PMID:28492532

NCBI chr 2:36,886,224...36,900,373
Ensembl chr 2:36,886,226...36,900,003

G

ring finger protein 14

ClinVar Annotator: match by term: Marshall syndrome

PMID:25741868 PMID:28492532

NCBI chr 2:36,908,617...36,934,896
Ensembl chr 2:36,911,612...36,929,172

G

RNA binding region (RNP1, RRM) containing 3

ClinVar Annotator: match by term: Marshall syndrome

NCBI chr 6:46,960,033...47,044,272
Ensembl chr 6:47,016,038...47,044,236

Marshall/Stickler Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type XI alpha 1 chain

ClinVar Annotator: match by term: Marshall/Stickler syndrome

PMID:1536174 PMID:10486316

NCBI chr 6:47,425,387...47,622,189
Ensembl chr 6:47,425,307...47,621,012

Mitochondrial Myopathy with Lactic Acidosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

patatin like phospholipase domain containing 8

ClinVar Annotator: match by term: Mitochondrial myopathy with lactic acidosis

PMID:19840936 PMID:25512002 PMID:25741868 PMID:28492532 PMID:29681094 More...

NCBI chr18:12,134,921...12,181,496
Ensembl chr18:12,141,830...12,179,974

mitochondrial nonsyndromic sensorineural deafness

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrially encoded cytochrome c oxidase I

ClinVar Annotator: match by term: Deafness, nonsyndromic sensorineural, mitochondrial

PMID:127819 PMID:1322638 PMID:1634041 PMID:1732158 PMID:6213205 More...

NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1

ClinVar Annotator: match by term: Deafness, nonsyndromic sensorineural, mitochondrial

PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More...

NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703

MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

geranylgeranyl diphosphate synthase 1

ClinVar Annotator: match by term: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome

PMID:25741868 PMID:32403198 PMID:35869884

NCBI chr 4:4,590,302...4,602,307
Ensembl chr 4:4,592,262...4,602,077

MYH-9 related disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin heavy chain 9

ClinVar Annotator: match by term: MYH9-related disorder | ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | ClinVar Annotator: match by term: Sebastian platelet syndrome
May-Hegglin anomaly

OMIM
ClinVar
OMIA

PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:9536098 More...

NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953

G

tubulin beta 1 class VI

ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

NCBI chr24:43,759,078...43,768,556
Ensembl chr24:43,759,555...43,771,737

Nonsyndromic Sensorineural Hearing Loss

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cadherin related 23

ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment

PMID:18429043 PMID:21228398 PMID:21569298 PMID:22135276 PMID:22995991 More...

NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131

G

cochlin

ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant

NCBI chr 8:10,215,101...10,230,017
Ensembl chr 8:10,214,536...10,233,550

G

collagen type XI alpha 2 chain

ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant

PMID:24033266 PMID:28492532

NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814

G

EYA transcriptional coactivator and phosphatase 4

ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant

NCBI chr 1:26,208,514...26,514,601
Ensembl chr 1:26,272,448...26,514,201

G

gap junction protein alpha 1

DNA:mutations:cds:c.30C>T,c.71T>G(human)

NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936

G

gap junction protein beta 2

ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant | ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss

PMID:10376574 PMID:11102979 PMID:11216656 PMID:11313763 PMID:11493200 More...

NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289

G

gap junction protein beta 3

no_association

DNA:missense mutation, SNPs:exon:p.R32W (94C>T), C357C>T, 798C>T (human)
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant

NCBI chr15:7,175,010...7,177,145

G

gap junction protein beta 6

no_association

DNA:del:cds:del(GJB6-D13S1830)
DNA:mutations:multiple:
DNA:del::GJB6-D13S1854(human)

PMID:20022641 PMID:21227513 PMID:22186156 PMID:23554706 PMID:23668481

RGD:7364803 RGD:7364812 RGD:7364817 RGD:7364891 RGD:7364892

NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605

G

myosin heavy chain 14

ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant

PMID:25741868 PMID:28492532

NCBI chr 1:106,371,952...106,460,388
Ensembl chr 1:106,371,939...106,458,901

G

myosin heavy chain 9

ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953

G

myosin IA

ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant

PMID:24033266 PMID:25741868

NCBI chr10:1,159,816...1,194,452
Ensembl chr10:1,159,812...1,193,153

G

myosin IIIA

ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss

PMID:25741868 PMID:29880844 PMID:34788109

NCBI chr 2:7,455,125...7,695,483
Ensembl chr 2:7,455,625...7,696,043

G

myosin VI

ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant

PMID:25741868 PMID:28492532

NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724

G

myosin VIIA

ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant | ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss

PMID:24033266 PMID:28492532

NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279

G

protocadherin related 15

ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment

PMID:23804846 PMID:25741868 PMID:26226137 PMID:28492532 PMID:30029624

NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017

G

polyribonucleotide nucleotidyltransferase 1

DNA:missense mutation:cds:c.1424A>G(p.E475G)(human)

NCBI chr10:56,478,771...56,520,992
Ensembl chr10:56,478,680...56,520,967

G

POU class 4 homeobox 3

ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant

NCBI chr 2:40,762,499...40,764,131
Ensembl chr 2:40,762,477...40,765,161

G

SIX homeobox 1

ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant

NCBI chr 8:35,676,705...35,679,534
Ensembl chr 8:35,676,479...35,679,534

G

solute carrier family 17 member 8

ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant

NCBI chr15:39,443,790...39,489,988
Ensembl chr15:39,443,518...39,486,595

G

solute carrier family 26 member 5

DNA:snp:intron:IVS2-2A>G (human)

NCBI chr18:16,783,795...16,841,946
Ensembl chr18:16,788,759...16,839,940

G

tectorin alpha

ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant

PMID:24033266 PMID:25741868

NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147

G

tight junction protein 2

ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant

PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386

NCBI chr 1:88,126,134...88,251,018
Ensembl chr 1:88,126,136...88,230,654

G

transmembrane channel like 1

ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant

PMID:9536098 PMID:17576681 PMID:21252500 PMID:23208854 PMID:24033266 More...

NCBI chr 1:85,041,039...85,159,607
Ensembl chr 1:85,041,574...85,187,369

G

transmembrane O-mannosyltransferase targeting cadherins 2

susceptibility

DNA:SNP:exon:rs35725509(human)

NCBI chr15:24,629,610...25,017,936
Ensembl chr15:24,629,157...25,016,555

G

USH1 protein network component sans

ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment

PMID:28492532 PMID:30029624

NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900

G

wolframin ER transmembrane glycoprotein

ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant

PMID:12955714 PMID:17603484 PMID:18060660 PMID:20301750 PMID:20738327 More...

NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827

ocular albinism with sensorineural deafness

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

melanocyte inducing transcription factor

OMIM:103470

NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578

G

paired box 3

ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness

NCBI chr37:28,346,476...28,443,648
Ensembl chr37:28,346,563...28,444,561

G

tyrosinase

ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness

PMID:1429711 PMID:1642278 PMID:1903591 PMID:5516239 PMID:7704033 More...

NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191

otospondylomegaepiphyseal dysplasia, autosomal recessive

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type XI alpha 2 chain

ClinVar Annotator: match by term: Insley-Astley syndrome | ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive

PMID:7859284 PMID:9188673 PMID:9536098 PMID:10677296 PMID:15558753 More...

NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814

G

collagen type II alpha 1 chain

ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive

PMID:25326635 PMID:25741868

NCBI chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733

palmoplantar keratoderma-deafness syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

desmoglein 1

ClinVar Annotator: match by term: Hereditary palmoplantar keratoderma

NCBI chr 7:58,159,283...58,239,018
Ensembl chr 7:58,102,113...58,193,708

G

gap junction protein beta 2

ClinVar Annotator: match by term: Keratoderma palmoplantar, with deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome

PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More...

NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289

G

mitochondrially encoded cytochrome c oxidase I

ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome

PMID:127819 PMID:6213205 PMID:7219534 PMID:7987332 PMID:8019558 More...

NCBI chr MT:5,349...6,893
Ensembl chr MT:5,349...6,893

Paragangliomas with Sensorineural Hearing Loss

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

succinate dehydrogenase complex subunit D

ClinVar Annotator: match by term: Paragangliomas 1 with sensorineural hearing loss | ClinVar Annotator: match by term: Paragangliomas with sensorineural hearing loss

PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 More...

NCBI chr 5:21,030,295...21,041,125

Pendred syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

claudin 9

ClinVar Annotator: match by term: Pendred syndrome

PMID:30311386 PMID:35802133 PMID:36633841

NCBI chr 6:38,172,035...38,174,089
Ensembl chr 6:38,172,550...38,173,203

G

diaphanous related formin 1

ClinVar Annotator: match by term: Pendred syndrome

NCBI chr 2:36,483,781...36,581,390
Ensembl chr 2:36,485,571...36,581,320

G

forkhead box I1

ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome

PMID:17503324 PMID:25741868 PMID:28492532 PMID:30311386

NCBI chr 4:41,760,899...41,764,887
Ensembl chr 4:41,761,016...41,764,836

G

potassium inwardly rectifying channel subfamily J member 10

ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome

PMID:19289823 PMID:20651251 PMID:20678478 PMID:20807765 PMID:21088294 More...

NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813

G

myosin VIIA

ClinVar Annotator: match by term: Pendred syndrome

PMID:24033266 PMID:28492532 PMID:30311386 PMID:30718709

NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279

G

otoferlin

ClinVar Annotator: match by term: Pendred syndrome

NCBI chr17:20,518,480...20,619,713
Ensembl chr17:20,518,813...20,614,750

G

solute carrier family 26 member 4

ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B | ClinVar Annotator: match by term: Pendred syndrome | ClinVar Annotator: match by term: SLC26A4-related condition

PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More...

NCBI chr18:12,894,347...12,941,669
Ensembl chr18:12,894,669...12,943,212

Perrault Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

caseinolytic mitochondrial matrix peptidase proteolytic subunit

ClinVar Annotator: match by term: Perrault syndrome 1

NCBI chr20:53,788,114...53,794,217
Ensembl chr20:53,788,164...53,794,174

G

fibrillin 1

ClinVar Annotator: match by term: Perrault syndrome 1

NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151

G

follicle stimulating hormone receptor

ClinVar Annotator: match by term: Gonadal dysgenesis XX type deafness

PMID:25741868 PMID:28492532

NCBI chr10:50,765,591...50,938,643
Ensembl chr10:50,770,995...50,938,474

G

hydroxysteroid 17-beta dehydrogenase 4

ClinVar Annotator: match by term: HSD17B4-related condition | ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Perrault syndrome 1

PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 More...

NCBI chr11:8,717,182...8,810,716
Ensembl chr11:8,717,349...8,824,594

G

protein only RNase P catalytic subunit

ClinVar Annotator: match by term: Perrault syndrome 1

NCBI chr 8:13,885,734...14,007,224

Presbycusis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aquaporin 4

severity

NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089

G

brain derived neurotrophic factor

mRNA:decreased expression:cochlea

NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480

G

calcium voltage-gated channel subunit alpha1 D

mRNA, protein:decreased expression:cochlea

NCBI chr20:36,189,986...36,488,460
Ensembl chr20:36,191,810...36,613,686

G

catalase

NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447

G

cadherin related 23

no_association

DNA:SNP:intron:g.72996763C>T (rs7087735) (human)

PMID:12910270 PMID:22581638

RGD:737781 RGD:8662287

NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131

G

endothelin 1

susceptibility

DNA:missense mutation:cds:p.L198N (rs5370) (human)

NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383

G

heat shock protein family B (small) member 1

NCBI chr 6:7,487,164...7,488,576
Ensembl chr 6:7,487,250...7,488,576

G

interleukin 1 receptor type 2

NCBI chr10:40,967,532...41,003,659
Ensembl chr10:40,896,669...41,034,113

G

DNA polymerase gamma, catalytic subunit

NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544

G

sirtuin 3

protein:decreased expression:auditory cortex:

NCBI chr18:25,369,183...25,388,126
Ensembl chr18:25,369,382...25,388,118

G

solute carrier family 26 member 5

protein:altered expression:cochlear outer hair cell (rat)

NCBI chr18:16,783,795...16,841,946
Ensembl chr18:16,788,759...16,839,940

G

superoxide dismutase 1

severity

mRNA:increased expression:cochlea (mouse)

PMID:10464373 PMID:11678164

RGD:8655636 RGD:8655665

NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815

G

superoxide dismutase 2

protein:decreased expression,decreased activity:auditory cortex:

NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706

G

TBC1 domain family member 24

DNA:mutation:cds:c.533C>T (p.S178L)(human)

NCBI chr 6:38,531,547...38,557,472

G

tyrosinase

treatment
onset

associated with Albinism;

PMID:19141317 PMID:19843244

RGD:8694324 RGD:8694327

NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191

retinitis pigmentosa-deafness syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chromosome 4 C10orf105 homolog

ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 4:22,472,365...22,478,931

G

cadherin related 23

ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome

PMID:12075507 PMID:16963483 PMID:18429043 PMID:19683999 PMID:21174530 More...

NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131

G

crumbs cell polarity complex component 1

ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome

PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 More...

NCBI chr 7:5,277,394...5,490,542
Ensembl chr 7:5,277,394...5,490,470

G

histidyl-tRNA synthetase 1

ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome

NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583

G

myosin VIIA

ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome

PMID:24033266 PMID:28492532

NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279

G

protocadherin related 15

ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome

NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017

G

prosaposin

ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome

PMID:18429043 PMID:23794683 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848

G

USH1 protein network component harmonin

ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome

NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430

G

USH1 protein network component sans

ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome

NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900

G

usherin

ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome

NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444

G

V-set immunoregulatory receptor

ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome

NCBI chr 4:22,504,888...22,530,702
Ensembl chr 4:22,459,363...22,530,687

G

whirlin

ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome

PMID:21569298 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977

Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ribonucleotide reductase regulatory TP53 inducible subunit M2B

ClinVar Annotator: match by term: Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction

PMID:8279480 PMID:17486094 PMID:21378381 PMID:24741716 PMID:25741868 More...

NCBI chr13:3,774,725...3,838,576
Ensembl chr13:3,799,025...3,837,934

Sensorineural Deafness and Male Infertility

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cation channel sperm associated 2

ClinVar Annotator: match by term: Deafness-infertility syndrome

PMID:19344877 PMID:24033266 PMID:25741868

NCBI chr30:10,471,798...10,487,948
Ensembl chr30:10,471,814...10,487,739

G

creatine kinase U-type, mitochondrial

ClinVar Annotator: match by term: Deafness-infertility syndrome

NCBI chr30:10,438,566...10,444,532

G

protein disulfide isomerase family A member 3

ClinVar Annotator: match by term: Deafness-infertility syndrome

NCBI chr30:10,487,926...10,513,437
Ensembl chr30:10,487,921...10,513,397

G

diphosphoinositol pentakisphosphate kinase 1

ClinVar Annotator: match by term: Deafness-infertility syndrome

NCBI chr30:10,383,733...10,436,423
Ensembl chr30:10,384,791...10,426,533

G

stereocilin

ClinVar Annotator: match by term: Deafness-infertility syndrome

PMID:18414213 PMID:21078986 PMID:22147502 PMID:24033266 PMID:25157971 More...

NCBI chr30:10,444,726...10,459,058
Ensembl chr30:10,444,793...10,460,785

Sensorineural Deafness with Hypertrophic Cardiomyopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin VI

ClinVar Annotator: match by term: Sensorineural deafness with hypertrophic cardiomyopathy

PMID:15060111 PMID:18212818 PMID:18348273 PMID:24033266 PMID:28492532

NCBI chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724

Sensorineural Deafness with Mild Renal Dysfunction

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

barttin CLCNK type accessory subunit beta

ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction

PMID:11687798 PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 More...

NCBI chr 5:54,225,393...54,239,305
Ensembl chr 5:54,225,389...54,237,110

split hand-foot malformation 1 with sensorineural hearing loss

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

distal-less homeobox 5

ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss

NCBI chr14:22,080,351...22,085,188
Ensembl chr14:22,080,699...22,084,867

spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nicotinamide nucleotide adenylyltransferase 1

ClinVar Annotator: match by term: SHILCA SYNDROME

PMID:22842227 PMID:22842230 PMID:22842231 PMID:25741868 PMID:26018082 More...

NCBI chr 5:63,122,379...63,152,078
Ensembl chr 5:63,122,498...63,151,661

Sudden Hearing Loss

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutathione peroxidase 3

DNA:SNP: :rs3805435 (human)

NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010

G

MHC class II DLA DRB1 beta chain

susceptibility

DNA:polymorphism: :HLA-DRB1*0403(human)
DNA:polymorphism: :HLA-DRB1*14,HLA-DRB1*04(human)

PMID:11099146 PMID:16303674

RGD:7365092 RGD:7365115

NCBI chr12:2,151,409...2,164,564

G

heat shock protein 70

DNA:SNP, haplotype: :rs2763979 (human)

NCBI chr12:1,285,282...1,287,670

G

insulin like growth factor 1

treatment

NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794

G

interleukin 4 receptor

DNA:SNP: :p.Q576R (rs 180275) (human)

NCBI chr 6:19,254,183...19,280,973
Ensembl chr 6:19,254,487...19,389,291

G

interleukin 6

susceptibility

DNA:polymorphism:cds:p.C572G(human)
protein:increased expression:serum:

PMID:11189185 PMID:22385075

RGD:7394753 RGD:8547982

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

integrin subunit alpha 2

susceptibility

DNA:SNP: :807C>T (human)

NCBI chr 4:62,170,137...62,268,962
Ensembl chr 4:62,170,452...62,268,983

G

heat shock 70 kDa protein 1-like

DNA:SNP, haplotype: :rs2075800 (human)

NCBI chr12:1,281,164...1,285,010
Ensembl chr12:1,281,472...1,285,440

G

lymphotoxin alpha

DNA:polymorphism:intron:252A>G (human)

NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067

G

matrix metallopeptidase 1

DNA:insertion, SNP, haplotypes:promoter:-1607_-1606insG (rs1799750), -519A>G (human)

NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648

G

methylenetetrahydrofolate reductase

no_association
susceptibility

CTD Direct Evidence: marker/mechanism
DNA:SNP: :677C>T(human)
DNA:SNP:cds:677C>T(human)
DNA:SNPs:cds:677C>T,1298A>C(human)

PMID:15775757 PMID:16275406 PMID:16572609 PMID:20798492

RGD:7387236 RGD:7387240 RGD:7387243

NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818

G

5-methyltetrahydrofolate-homocysteine methyltransferase

susceptibility

DNA:SNP::2756A>G(human)

NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115

G

nitric oxide synthase 3

DNA:snp:cds:p.E298D (rs1799983) (human)

NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277

G

serpin family E member 1

susceptibility

DNA:deletion, haplotype:promoter:g.-676_-674delG (human)

NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301

G

tumor necrosis factor

protein:increased expression:serum:

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

thiamine-responsive megaloblastic anemia syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 19 member 2

ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ClinVar Annotator: match by term: Thiamine-responsive megaloblastic anemia

PMID:9399900 PMID:9856490 PMID:10391221 PMID:10391222 PMID:10391223 More...

NCBI chr 7:29,094,341...29,114,319
Ensembl chr 7:29,094,101...29,113,249

Townes-Brocks syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dishevelled binding antagonist of beta catenin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:33,950,016...33,959,671
Ensembl chr 8:33,949,926...33,958,449

G

spalt like transcription factor 1

ClinVar Annotator: match by term: Deafness, sensorineural, with imperforate anus and hypoplastic thumbs | ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome

PMID:8133838 PMID:9425907 PMID:9536098 PMID:9973281 PMID:10533063 More...

NCBI chr 2:64,242,742...64,260,021
Ensembl chr 2:64,243,987...64,259,521

Townes-Brocks Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dishevelled binding antagonist of beta catenin 1

ClinVar Annotator: match by term: Townes-Brocks syndrome 2

PMID:25741868 PMID:28054444 PMID:28492532 PMID:36066768

NCBI chr 8:33,950,016...33,959,671
Ensembl chr 8:33,949,926...33,958,449

Townes-Brocks-Branchiootorenal-Like Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

spalt like transcription factor 1

ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome

PMID:9973281 PMID:10928856 PMID:14755477 PMID:16088922 PMID:23069192 More...

NCBI chr 2:64,242,742...64,260,021
Ensembl chr 2:64,243,987...64,259,521

Usher syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adhesion G protein-coupled receptor V1

ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome

PMID:14740321 PMID:15671307 PMID:16199547 PMID:19357117 PMID:22135276 More...

NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532

G

arylsulfatase G

ClinVar Annotator: match by term: Usher syndrome

NCBI chr 9:15,048,563...15,115,095
Ensembl chr 9:15,048,588...15,115,101

G

ATPase H+ transporting V1 subunit B1

ClinVar Annotator: match by term: Usher syndrome

NCBI chr10:69,261,311...69,287,540
Ensembl chr10:69,252,926...69,287,542

G

Bardet-Biedl syndrome 1

ClinVar Annotator: match by term: Usher syndrome

PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 More...

NCBI chr18:50,816,126...50,835,354

G

3'(2'), 5'-bisphosphate nucleotidase 1

ClinVar Annotator: match by term: Usher syndrome

NCBI chr38:14,834,642...14,857,242
Ensembl chr38:14,834,643...14,857,227

G

chromosome 4 C10orf105 homolog

ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Dystrophia retinae pigmentosa-dysostosis syndrome | ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome

PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More...

NCBI chr 4:22,472,365...22,478,931

G

calcium binding protein 4

ClinVar Annotator: match by term: Usher syndrome

PMID:25741868 PMID:28492532

NCBI chr18:50,014,698...50,017,854
Ensembl chr18:50,014,698...50,017,854

G

coiled-coil domain 40 molecular ruler complex subunit

ClinVar Annotator: match by term: Usher syndrome

PMID:25741868 PMID:28492532

NCBI chr 9:1,616,029...1,656,043
Ensembl chr 9:1,601,121...1,656,597

G

cadherin related 23

ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome

PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More...

NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131

G

centrosomal protein 250

ClinVar Annotator: match by term: Usher syndrome

PMID:24780881 PMID:25741868

NCBI chr24:24,411,882...24,461,916
Ensembl chr24:24,418,859...24,461,640

G

calcium and integrin binding family member 2

ClinVar Annotator: match by term: Usher syndrome

PMID:24033266 PMID:25741868 PMID:26173970 PMID:26214305 PMID:26226137 More...

G

clarin 1

ClinVar Annotator: match by term: Usher syndrome

PMID:7407589 PMID:11524702 PMID:15521980 PMID:17407589 PMID:17893653 More...

NCBI chr23:45,512,639...45,551,010
Ensembl chr23:45,513,416...45,551,178

G

cochlin

ClinVar Annotator: match by term: Usher syndrome

NCBI chr 8:10,215,101...10,230,017
Ensembl chr 8:10,214,536...10,233,550

G

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: Usher syndrome

NCBI chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189

G

crumbs cell polarity complex component 1

ClinVar Annotator: match by term: Hallgren syndrome

PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 More...

NCBI chr 7:5,277,394...5,490,542
Ensembl chr 7:5,277,394...5,490,470

G

cone-rod homeobox

ClinVar Annotator: match by term: Usher syndrome

NCBI chr 1:108,249,911...108,261,015
Ensembl chr 1:108,249,911...108,261,010

G

diacylglycerol kinase theta

ClinVar Annotator: match by term: Usher syndrome

NCBI chr 3:91,544,350...91,554,494
Ensembl chr 3:91,544,219...91,554,565

G

dual specificity phosphatase 10

ClinVar Annotator: match by term: Usher syndrome

NCBI chr38:16,196,354...16,233,640
Ensembl chr38:16,196,635...16,231,315

G

glutamyl-prolyl-tRNA synthetase 1

ClinVar Annotator: match by term: Usher syndrome

NCBI chr38:14,754,628...14,823,626
Ensembl chr38:14,754,632...14,823,621

G

estrogen related receptor gamma

ClinVar Annotator: match by term: Usher syndrome

NCBI chr38:11,825,055...12,439,143
Ensembl chr38:11,823,520...12,256,028

G

formation of mitochondrial complex V assembly factor 1 homolog

ClinVar Annotator: match by term: Usher syndrome

NCBI chr16:9,413,358...9,418,791
Ensembl chr16:9,413,359...9,418,791

G

G-patch domain containing 2

ClinVar Annotator: match by term: Usher syndrome

NCBI chr38:12,682,263...12,850,587
Ensembl chr38:12,685,619...12,850,529

G

histidyl-tRNA synthetase 1

ClinVar Annotator: match by term: Usher syndrome

NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583

G

histone deacetylase 6

ClinVar Annotator: match by term: Usher syndrome

NCBI chr X:42,004,268...42,024,726
Ensembl chr X:42,004,591...42,024,427

G

HHIP like 2

ClinVar Annotator: match by term: Usher syndrome

NCBI chr38:16,791,695...16,818,482
Ensembl chr38:16,791,695...16,818,411

G

H2.0 like homeobox

ClinVar Annotator: match by term: Usher syndrome

NCBI chr38:15,538,744...15,543,686
Ensembl chr38:15,539,029...15,542,152

G

isoleucyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Usher syndrome

NCBI chr38:14,864,004...14,925,684
Ensembl chr38:14,863,998...14,925,635

G

LUC7-like 2 (S. cerevisiae)

ClinVar Annotator: match by term: Usher syndrome

NCBI chr16:9,342,792...9,404,797
Ensembl chr16:9,342,894...9,404,797

G

lysophospholipase like 1

ClinVar Annotator: match by term: Usher syndrome

NCBI chr38:14,100,818...14,137,292
Ensembl chr38:14,100,698...14,268,481

G

microtubule affinity regulating kinase 1

ClinVar Annotator: match by term: Usher syndrome

NCBI chr38:15,270,523...15,341,934
Ensembl chr38:15,273,004...15,340,448

G

microRNA mir-194

ClinVar Annotator: match by term: Usher syndrome

NCBI chr38:14,895,401...14,895,458
Ensembl chr38:14,895,401...14,895,458

G

mitochondrial amidoxime reducing component 1

ClinVar Annotator: match by term: Usher syndrome

NCBI chr38:15,460,548...15,490,941
Ensembl chr38:15,463,548...15,532,241

G

mitochondrial amidoxime reducing component 2

ClinVar Annotator: match by term: Usher syndrome

NCBI chr38:15,426,884...15,451,701
Ensembl chr38:15,426,666...15,451,136

G

myosin VIIA

ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome | ClinVar Annotator: match by term: Usher's syndrome

PMID:3130723 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 More...

NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279

G

otoancorin

ClinVar Annotator: match by term: Usher syndrome

PMID:23173898 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 6:23,106,650...23,175,159
Ensembl chr 6:23,106,804...23,168,380

G

paired box 3

ClinVar Annotator: match by term: Usher syndrome

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr37:28,346,476...28,443,648
Ensembl chr37:28,346,563...28,444,561

G

protocadherin related 15

ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome

PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More...

NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017

G

phosphodiesterase 6A

ClinVar Annotator: match by term: Usher syndrome

PMID:24265693 PMID:25182519 PMID:25741868 PMID:28492532

NCBI chr 4:59,103,965...59,163,857
Ensembl chr 4:59,103,945...59,163,857

G

PDZ domain containing 7

ClinVar Annotator: match by term: Usher syndrome

NCBI chr28:13,693,032...13,711,654
Ensembl chr28:13,693,023...13,711,784

G

prominin 1

ClinVar Annotator: match by term: Usher syndrome

PMID:9536098 PMID:17576681 PMID:28492532

NCBI chr 3:64,229,487...64,362,346
Ensembl chr 3:64,260,685...64,382,009

G

peripherin 2

ClinVar Annotator: match by term: Usher syndrome

PMID:25741868 PMID:28492532 PMID:32531846

NCBI chr12:11,299,236...11,316,175
Ensembl chr12:11,299,236...11,316,175

G

prosaposin

ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome

PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More...

NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848

G

RAB3 GTPase activating non-catalytic protein subunit 2

ClinVar Annotator: match by term: Usher syndrome

NCBI chr38:14,927,670...15,025,554
Ensembl chr38:14,928,628...15,025,865

G

ribosomal RNA processing 15 homolog

ClinVar Annotator: match by term: Usher syndrome

NCBI chr38:13,377,518...13,416,809
Ensembl chr38:13,377,571...13,421,810

G

serpin family B member 6

ClinVar Annotator: match by term: Usher syndrome

PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386

NCBI chr35:3,234,694...3,245,726
Ensembl chr35:3,234,697...3,262,829

G

solute carrier family 30 member 10

ClinVar Annotator: match by term: Usher syndrome

NCBI chr38:14,705,517...14,746,835
Ensembl chr38:14,709,866...14,747,540

G

spermatogenesis associated 17

ClinVar Annotator: match by term: Usher syndrome

NCBI chr38:12,850,773...13,058,137
Ensembl chr38:12,850,469...13,146,096

G

TATA-box binding protein associated factor, RNA polymerase I subunit A

ClinVar Annotator: match by term: Usher syndrome

NCBI chr38:16,827,853...16,858,506
Ensembl chr38:16,828,205...16,858,432

G

transforming growth factor beta 2

ClinVar Annotator: match by term: Usher syndrome

NCBI chr38:13,430,832...13,511,655
Ensembl chr38:13,429,148...13,510,242

G

USH1 protein network component harmonin

treatment

ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome

PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More...

NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430

G

USH1 protein network component sans

ClinVar Annotator: match by term: Usher syndrome

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900

G

usherin

susceptibility

DNA:snps, insertion:exon, intron:multiple (human)
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome

PMID:1968399 PMID:2525289 PMID:2564938 PMID:9536098 PMID:9624053 More...

NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444

G

whirlin

ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Usher syndrome

PMID:11973626 PMID:12833159 PMID:15841483 PMID:21569298 PMID:22147658 More...

NCBI chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977

G

zinc finger DHHC-type containing 24

ClinVar Annotator: match by term: Usher syndrome

PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 More...

NCBI chr18:50,801,179...50,808,480
Ensembl chr18:50,801,303...50,806,877

Usher syndrome type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adhesion G protein-coupled receptor V1

ClinVar Annotator: match by term: Usher syndrome type 1

PMID:21569298 PMID:24033266 PMID:28492532

NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532

G

chromosome 4 C10orf105 homolog

ClinVar Annotator: match by term: Usher syndrome type 1

PMID:9536098 PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 More...

NCBI chr 4:22,472,365...22,478,931

G

cadherin related 23

ClinVar Annotator: match by term: Usher syndrome type 1

PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More...

NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131

G

calcium and integrin binding family member 2

ClinVar Annotator: match by term: Usher syndrome type 1

PMID:18505454 PMID:20301442 PMID:23023331

G

espin

ClinVar Annotator: match by term: Usher syndrome type 1

NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676

G

myosin VIIA

ClinVar Annotator: match by term: Usher syndrome type 1

PMID:3130723 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 More...

NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279

G

protocadherin related 15

ClinVar Annotator: match by term: Usher syndrome type 1

PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More...

NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017

G

prosaposin

ClinVar Annotator: match by term: Usher syndrome type 1

PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More...

NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848

G

USH1 protein network component harmonin

onset

DNA:deletion:exon:c.1220delG(human)
ClinVar Annotator: match by term: Usher syndrome type 1

PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More...

NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430

G

USH1 protein network component sans

ClinVar Annotator: match by term: Usher syndrome type 1

PMID:11941484 PMID:12588794 PMID:21569298 PMID:25741868 PMID:28492532

NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900

G

usherin

ClinVar Annotator: match by term: Usher syndrome type 1

PMID:20301442 PMID:21569298 PMID:24033266 PMID:25741868 PMID:26667666 More...

NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444

Usher Syndrome Type 1B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chromosome 4 C10orf105 homolog

ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B

PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More...

NCBI chr 4:22,472,365...22,478,931

G

cadherin related 23

ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety

PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More...

NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131

G

myosin VIIA

treatment

ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety

OMIM
ClinVar
RGD

PMID:3130723 PMID:7568224 PMID:7870171 PMID:7951250 PMID:8900236 More...

NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279

G

protocadherin related 15

ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B

PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More...

NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017

G

prosaposin

ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B

PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More...

NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848

G

USH1 protein network component harmonin

ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness

PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More...

NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430

Usher syndrome type 1C

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

USH1 protein network component harmonin

ClinVar Annotator: match by term: Usher syndrome type 1C

PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More...

NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430

Usher syndrome type 1D

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chromosome 4 C10orf105 homolog

ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D

PMID:11090341 PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 More...

NCBI chr 4:22,472,365...22,478,931

G

cadherin related 23

ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D

PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More...

NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131

G

protocadherin related 15

ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D

PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More...

NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017

G

prosaposin

ClinVar Annotator: match by term: Usher syndrome type 1D

PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More...

NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848

G

V-set immunoregulatory receptor

ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID

NCBI chr 4:22,504,888...22,530,702
Ensembl chr 4:22,459,363...22,530,687

Usher syndrome type 1F

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protocadherin related 15

ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F

PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More...

NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017

Usher syndrome type 1G

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protocadherin related 15

ClinVar Annotator: match by term: Usher syndrome type 1G

PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 More...

NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017

G

USH1 protein network component sans

ClinVar Annotator: match by term: USH1G-Related Disorders | ClinVar Annotator: match by term: USH1G-related condition | ClinVar Annotator: match by term: Usher syndrome type 1G

PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 PMID:16283141 More...

NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900

Usher syndrome type 1J

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium and integrin binding family member 2

ClinVar Annotator: match by term: Usher syndrome type 1J

PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 PMID:25741868 More...

Usher Syndrome Type 1M

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

espin

ClinVar Annotator: match by term: Usher syndrome, type 1M

PMID:15930085 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More...

NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676

Usher syndrome type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adhesion G protein-coupled receptor V1

ClinVar Annotator: match by term: Usher syndrome type 2

PMID:16199547 PMID:19357117 PMID:22135276 PMID:22147658 PMID:24033266 More...

NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532

G

cadherin related 23

ClinVar Annotator: match by term: Usher syndrome type 2

NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131

G

myosin VIIA

ClinVar Annotator: match by term: Usher syndrome type 2

NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279

G

USH1 protein network component harmonin

ClinVar Annotator: match by term: Usher syndrome type 2

PMID:10973247 PMID:16199547 PMID:17407589 PMID:20301442 PMID:21203349 More...

NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430

G

usherin

susceptibility

DNA:frameshift mutations, missense mutations, nonsense mutation:exon:multiple (human)
ClinVar Annotator: match by term: Usher syndrome type 2
DNA:insertion, deletions, snps:multiple (human)
DNA:mutations:multiple (human)
DNA:snp:intron:c.7595-2144A>G (human)

PMID:2564938 PMID:9536098 PMID:10729113 PMID:10738000 PMID:10909849 More...

RGD:8547952 RGD:8547962 RGD:8547965 RGD:8547985

NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444

Usher syndrome type 2A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adhesion G protein-coupled receptor V1

ClinVar Annotator: match by term: Usher syndrome type 2A

NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532

G

cadherin related 23

ClinVar Annotator: match by term: Usher syndrome type 2A

PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 PMID:21940737 More...

NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131

G

potassium channel tetramerization domain containing 3

ClinVar Annotator: match by term: Usher syndrome type 2A

NCBI chr38:11,016,344...11,059,843
Ensembl chr38:11,008,857...11,084,871

G

PDZ domain containing 7

ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A

PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More...

NCBI chr28:13,693,032...13,711,654
Ensembl chr28:13,693,023...13,711,784

G

surfactant protein C

ClinVar Annotator: match by term: Usher syndrome type 2A

NCBI chr25:35,088,295...35,090,995
Ensembl chr25:35,088,279...35,091,457

G

usherin

susceptibility

ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human)
DNA:mutations:multiple (human)

OMIM
ClinVar
RGD

PMID:1968399 PMID:2525289 PMID:2564938 PMID:9536098 PMID:9624053 More...

RGD:8547961 RGD:8547987

NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444

Usher syndrome type 2C

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adhesion G protein-coupled receptor V1

ClinVar Annotator: match by term: ADGRV1-related condition | ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic

PMID:9536098 PMID:10234513 PMID:14740321 PMID:15671307 PMID:16199547 More...

NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532

G

connector enhancer of kinase suppressor of Ras 1

ClinVar Annotator: match by term: Usher syndrome type 2C

NCBI chr 2:73,805,333...73,814,711
Ensembl chr 2:73,805,710...73,814,725

G

crystallin gamma C

ClinVar Annotator: match by term: Usher syndrome type 2C

PMID:24033266 PMID:25741868 PMID:28492532

Ensembl chr37:16,424,884...16,482,227

G

Fraser extracellular matrix complex subunit 1

ClinVar Annotator: match by term: Usher syndrome type 2C

PMID:21900877 PMID:25741868 PMID:28492532

NCBI chr32:2,558,442...2,993,199
Ensembl chr32:2,558,354...2,991,063

G

PDZ domain containing 7

ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic

PMID:20440071 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26849169 More...

NCBI chr28:13,693,032...13,711,654
Ensembl chr28:13,693,023...13,711,784

G

solute carrier family 4 member 7

OMIM:605472

NCBI chr23:16,710,649...16,788,277
Ensembl chr23:16,710,701...16,785,541

G

WD repeat domain 36

ClinVar Annotator: match by term: Usher syndrome type 2C

PMID:15677485 PMID:18172102 PMID:19150991 PMID:22995991 PMID:25333069 More...

NCBI chr 3:1,451,543...1,494,474
Ensembl chr 3:1,451,555...1,494,438

Usher syndrome type 2D

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

whirlin

ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID | ClinVar Annotator: match by term: Usher syndrome type 2D

PMID:9536098 PMID:12833159 PMID:15841483 PMID:17171570 PMID:17576681 More...

NCBI chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977

Usher syndrome type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

clarin 1

ClinVar Annotator: match by term: Usher syndrome type 3

PMID:7407589 PMID:9536098 PMID:11524702 PMID:12080385 PMID:12145752 More...

NCBI chr23:45,512,639...45,551,010
Ensembl chr23:45,513,416...45,551,178

G

histidyl-tRNA synthetase 1

ClinVar Annotator: match by term: Usher syndrome type 3

NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583

Usher syndrome type 3A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

clarin 1

ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA | ClinVar Annotator: match by term: Usher syndrome type 3A

PMID:7407589 PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 More...

NCBI chr23:45,512,639...45,551,010
Ensembl chr23:45,513,416...45,551,178

G

usherin

ClinVar Annotator: match by term: Usher syndrome type 3A

PMID:2564938 PMID:10729113 PMID:10909849 PMID:15015129 PMID:16963483 More...

NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444

Usher syndrome type 3B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DND microRNA-mediated repression inhibitor 1

ClinVar Annotator: match by term: Usher syndrome type 3B

NCBI chr 2:35,825,154...35,827,913
Ensembl chr 2:35,825,636...35,827,840

G

histidyl-tRNA synthetase 1

ClinVar Annotator: match by term: Usher syndrome type 3B

PMID:9536098 PMID:16199547 PMID:17576681 PMID:22279524 PMID:22279824 More...

NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583

G

histidyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Usher syndrome type 3B

NCBI chr 2:35,843,611...35,851,257
Ensembl chr 2:35,843,706...35,850,760

Usher Syndrome Type 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

arylsulfatase G

ClinVar Annotator: match by term: ARSG-related condition | ClinVar Annotator: match by term: Usher syndrome, type 4

PMID:25741868 PMID:28492532 PMID:29300381 PMID:32455177 PMID:33300174 More...

NCBI chr 9:15,048,563...15,115,095
Ensembl chr 9:15,048,588...15,115,101

G

protein kinase cAMP-dependent type I regulatory subunit alpha

ClinVar Annotator: match by term: ARSG-related condition | ClinVar Annotator: match by term: Usher syndrome, type 4

PMID:25741868 PMID:28492532 PMID:33300174 PMID:35226187 PMID:36317447

NCBI chr 9:15,180,940...15,203,035
Ensembl chr 9:15,181,393...15,200,683

Usher Syndrome, Type 2B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adhesion G protein-coupled receptor V1

ClinVar Annotator: match by term: Usher syndrome, type 2B

PMID:14740321 PMID:15671307 PMID:19357117 PMID:22135276 PMID:22147658 More...

NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532

G

PDZ domain containing 7

ClinVar Annotator: match by term: Usher syndrome, type 2B

PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More...

NCBI chr28:13,693,032...13,711,654
Ensembl chr28:13,693,023...13,711,784

Usher Syndrome, Type ID/F

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cadherin related 23

ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC

PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:21940737 More...

NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131

G

protocadherin related 15

ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC

PMID:15537665 PMID:15660226 PMID:24033266

NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017

uveal coloboma-cleft lip and palate-intellectual disability

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Yes1 associated transcriptional regulator

ClinVar Annotator: match by term: Uveal coloboma-cleft lip and palate-intellectual disability | ClinVar Annotator: match by term: YAP1-related condition

PMID:4997531 PMID:24462371 PMID:25741868 PMID:28492532

NCBI chr 5:29,394,760...29,495,977
Ensembl chr 5:29,394,541...29,496,251

Vohwinkel syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gap junction protein beta 2

ClinVar Annotator: match by term: Keratoderma hereditarium mutilans | ClinVar Annotator: match by term: Mutilating keratoderma

PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More...

NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289

Wolfram syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CDGSH iron sulfur domain 2

ClinVar Annotator: match by term: Wolfram syndrome 2

PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:25056293 More...

NCBI chr32:24,257,909...24,274,732
Ensembl chr32:24,257,994...24,274,064

G

CDGSH iron sulfur domain 3

ClinVar Annotator: match by term: Wolfram syndrome 2

NCBI chr 9:23,501,167...23,504,302
Ensembl chr 9:23,501,168...23,504,308

G

polycomb group ring finger 2

ClinVar Annotator: match by term: Wolfram syndrome 2

NCBI chr 9:23,488,862...23,499,769
Ensembl chr 9:23,488,857...23,499,549

G

solute carrier family 9 member B1

ClinVar Annotator: match by term: Wolfram syndrome 2

PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532

NCBI chr32:24,292,961...24,352,795
Ensembl chr32:24,272,035...24,352,715

X-linked deafness 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphoribosyl pyrophosphate synthetase 1

ClinVar Annotator: match by term: DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL | ClinVar Annotator: match by term: Deafness, X-linked 1

PMID:8968763 PMID:10503584 PMID:15240907 PMID:17701900 PMID:20021999 More...

NCBI chr X:81,150,537...81,171,521
Ensembl chr X:81,150,536...81,212,689

X-linked deafness 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gap junction protein beta 2

ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear

PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More...

NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289

G

gap junction protein beta 6

ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear

PMID:10730756 PMID:11017065 PMID:12419304 PMID:12788524 PMID:14708603 More...

NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605

G

POU class 3 homeobox 4

ClinVar Annotator: match by term: Deafness, X-linked 2 | ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear

PMID:1783396 PMID:6662621 PMID:7581392 PMID:7839145 PMID:9298820 More...

NCBI chr X:64,427,161...64,428,825
Ensembl chr X:64,427,325...64,428,410

X-linked deafness 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

small muscle protein X-linked

ClinVar Annotator: match by term: DEAFNESS, X-LINKED 6, PROGRESSIVE | ClinVar Annotator: match by term: Deafness, X-linked 4

PMID:8872482 PMID:21549336 PMID:21549342 PMID:22911656 PMID:25741868 More...

NCBI chr X:17,520,564...17,578,453
Ensembl chr X:17,520,644...17,573,614

X-linked deafness 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apoptosis inducing factor mitochondria associated 1

ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5

PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270

NCBI chr X:101,275,027...101,307,551
Ensembl chr X:101,275,017...101,307,367

G

RAB33A, member RAS oncogene family

ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5

PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270

NCBI chr X:101,311,752...101,322,825
Ensembl chr X:101,312,611...101,322,689

X-linked deafness 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type IV alpha 6 chain

ClinVar Annotator: match by term: COL4A6-related condition | ClinVar Annotator: match by term: Deafness, X-linked 6

PMID:9536098 PMID:17576681 PMID:23714752 PMID:25741868 PMID:26467025 More...

NCBI chr X:81,690,047...81,981,005
Ensembl chr X:81,691,417...81,980,703

X-linked deafness 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

G protein-coupled receptor associated sorting protein 2

ClinVar Annotator: match by term: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome

NCBI chr X:76,653,500...76,658,182
Ensembl chr X:76,653,842...76,656,418

X-linked nonsyndromic deafness

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

small muscle protein X-linked

ClinVar Annotator: match by term: X-linked deafness

NCBI chr X:17,520,564...17,578,453
Ensembl chr X:17,520,644...17,573,614

Term paths to the root

Path 1
Term	Annotations
disease	17773
sensory system disease	6589
auditory system disease	950
inner ear disease	629
sensorineural hearing loss	584
Acrootoocular Syndrome	0
Ataxia, Deafness, and Cardiomyopathy	0
Athabaskan brainstem dysgenesis syndrome	2
Auditory Neuropathy, Nonsyndromic Recessive	0
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss	0
Ayme-Gripp syndrome	1
BADS syndrome	0
Bart-Pumphrey syndrome	1
Bartter disease type 4A	1
Bartter disease type 4b	1
Bjornstad syndrome	1
Boudhina Yedes Khiari syndrome	0
Brachydactyly, Intraventricular Septal Defect, and Deafness	0
Brown-Vialetto-Van Laere syndrome +	56
CAPOS Syndrome	1
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA	1
Cataract Ataxia Deafness	0
Cerebellar Ataxia and Hypergonadotropic Hypogonadism	0
Cerebellar Ataxia and Neurosensory Deafness	0
Charcot-Marie-Tooth disease X-linked recessive 4	2
Charcot-Marie-Tooth disease type 1E	2
Charcot-Marie-Tooth disease type 2J	1
Chitty Hall Baraitser Syndrome	0
Chudley-Mccullough syndrome	2
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss	0
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts	0
Combined Pituitary Hormone Deficiency, 3	1
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia	1
Congenital Deafness with Total Albinism	0
Congenital Ectodermal Dysplasia with Hearing Loss	0
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness	2
DOORS syndrome	1
De Hauwere syndrome	2
Deafness, Progressive High-Tone Neural	0
Deafness-Oligodontia Syndrome	0
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome	1
Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness	1
Distal Renal Tubular Acidosis 3, Autosomal Recessive	3
Donnai-Barrow syndrome	2
EAST syndrome	4
Ectodermal Dysplasia and Neurosensory Deafness	0
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features	0
Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness	1
Ermine Phenotype	0
Familial Visceral Neuropathy 2, Autosomal Recessive	1
Fitzsimmons Walson Mellor Syndrome	0
Flynn Aird Syndrome	0
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness	0
Gemignani Syndrome	0
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones	0
Griscelli syndrome +	7
HID Syndrome	1
Hearing Loss, Cisplatin-Induced	7
Hearing Loss, Noise-Induced	50
Hearing Loss, Unilateral Sensorineural	1
Heimler syndrome 1	4
High-Frequency Hearing Loss +	1
Hittner Hirsch Kreh Syndrome	4
Homozygous 11p15-p14 Deletion Syndrome	0
Insulin-Like Growth Factor I Deficiency	1
Johanson-Blizzard syndrome	1
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive	3
Kilquist Syndrome	1
MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME	1
MYH-9 related disease +	2
Marshall syndrome +	4
Mid-Tone Neural Deafness	0
Nephropathy, Deafness, and Hyperparathyroidism	0
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia	0
Nonsyndromic Sensorineural Hearing Loss +	28
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy	0
Otodental Dysplasia	0
Otofacioosseous-Gonadal Syndrome	0
Paragangliomas with Sensorineural Hearing Loss	1
Pendred syndrome	7
Perrault Syndrome 1	5
Pfeiffer Kapferer Syndrome	0
Pigmentary Retinopathy and Sensorineural Deafness	0
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease	0
Presbycusis +	15
Progressive Nephropathy with Deafness	0
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness	0
Retinitis Pigmentosa Inversa with Deafness	0
Robinson Miller Bensimon Syndrome	0
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction	1
Schaap Taylor Baraitser Syndrome	0
Sensorineural Deafness and Male Infertility	5
Sensorineural Deafness and Migraine	0
Sensorineural Deafness with Hypertrophic Cardiomyopathy	1
Sensorineural Deafness with Mild Renal Dysfunction	1
Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease	0
Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth	0
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy	0
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness	0
Sudden Hearing Loss	15
Townes-Brocks syndrome +	2
Treft Sanborn Carey Syndrome	0
Tunglang Savage Bellman Syndrome	0
Usher syndrome +	66
Vohwinkel syndrome	1
Wolfram syndrome 2	4
Wolfram syndrome, mitochondrial form	0
X-linked nonsyndromic deafness +	9
aminoglycoside-induced deafness	3
autosomal dominant cerebellar ataxia, deafness and narcolepsy	1
autosomal dominant nonsyndromic deafness +	80
autosomal recessive nonsyndromic deafness +	139
autosomal recessive spinocerebellar ataxia 19	1
autosomal-mitochondrial sensorineural deafness	2
corneal dystrophy-perceptive deafness syndrome	1
cortical deafness +	40
craniofacial-deafness-hand syndrome	1
deafness-intellectual disability, Martin-Probst type syndrome	0
dilated cardiomyopathy 1J	1
distal arthrogryposis type 6	0
dominant optic atrophy plus syndrome	1
high myopia-sensorineural deafness syndrome	1
histiocytosis-lymphadenopathy plus syndrome	1
hypoparathyroidism-deafness-renal disease syndrome	67
ocular albinism with sensorineural deafness	3
otospondylomegaepiphyseal dysplasia, autosomal recessive	2
palmoplantar keratoderma-deafness syndrome	3
split hand-foot malformation 1 with sensorineural hearing loss	1
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis	1
thiamine-responsive megaloblastic anemia syndrome	1
uveal coloboma-cleft lip and palate-intellectual disability	1
Path 2
Term	Annotations
disease	17773
disease of anatomical entity	15145
nervous system disease	13207
Neurologic Manifestations	9572
sensory system disease	6589
Otorhinolaryngologic Diseases	1674
auditory system disease	950
Hearing Disorders	774
Hearing Loss	769
sensorineural hearing loss	584
Acrootoocular Syndrome	0
Ataxia, Deafness, and Cardiomyopathy	0
Athabaskan brainstem dysgenesis syndrome	2
Auditory Neuropathy, Nonsyndromic Recessive	0
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss	0
Ayme-Gripp syndrome	1
BADS syndrome	0
Bart-Pumphrey syndrome	1
Bartter disease type 4A	1
Bartter disease type 4b	1
Bjornstad syndrome	1
Boudhina Yedes Khiari syndrome	0
Brachydactyly, Intraventricular Septal Defect, and Deafness	0
Brown-Vialetto-Van Laere syndrome +	56
CAPOS Syndrome	1
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA	1
Cataract Ataxia Deafness	0
Cerebellar Ataxia and Hypergonadotropic Hypogonadism	0
Cerebellar Ataxia and Neurosensory Deafness	0
Charcot-Marie-Tooth disease X-linked recessive 4	2
Charcot-Marie-Tooth disease type 1E	2
Charcot-Marie-Tooth disease type 2J	1
Chitty Hall Baraitser Syndrome	0
Chudley-Mccullough syndrome	2
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss	0
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts	0
Combined Pituitary Hormone Deficiency, 3	1
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia	1
Congenital Deafness with Total Albinism	0
Congenital Ectodermal Dysplasia with Hearing Loss	0
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness	2
DOORS syndrome	1
De Hauwere syndrome	2
Deafness, Progressive High-Tone Neural	0
Deafness-Oligodontia Syndrome	0
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome	1
Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness	1
Distal Renal Tubular Acidosis 3, Autosomal Recessive	3
Donnai-Barrow syndrome	2
EAST syndrome	4
Ectodermal Dysplasia and Neurosensory Deafness	0
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features	0
Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness	1
Ermine Phenotype	0
Familial Visceral Neuropathy 2, Autosomal Recessive	1
Fitzsimmons Walson Mellor Syndrome	0
Flynn Aird Syndrome	0
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness	0
Gemignani Syndrome	0
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones	0
Griscelli syndrome +	7
HID Syndrome	1
Hearing Loss, Cisplatin-Induced	7
Hearing Loss, Noise-Induced	50
Hearing Loss, Unilateral Sensorineural	1
Heimler syndrome 1	4
High-Frequency Hearing Loss +	1
Hittner Hirsch Kreh Syndrome	4
Homozygous 11p15-p14 Deletion Syndrome	0
Insulin-Like Growth Factor I Deficiency	1
Johanson-Blizzard syndrome	1
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive	3
Kilquist Syndrome	1
MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME	1
MYH-9 related disease +	2
Marshall syndrome +	4
Mid-Tone Neural Deafness	0
Nephropathy, Deafness, and Hyperparathyroidism	0
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia	0
Nonsyndromic Sensorineural Hearing Loss +	28
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy	0
Otodental Dysplasia	0
Otofacioosseous-Gonadal Syndrome	0
Paragangliomas with Sensorineural Hearing Loss	1
Pendred syndrome	7
Perrault Syndrome 1	5
Pfeiffer Kapferer Syndrome	0
Pigmentary Retinopathy and Sensorineural Deafness	0
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease	0
Presbycusis +	15
Progressive Nephropathy with Deafness	0
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness	0
Retinitis Pigmentosa Inversa with Deafness	0
Robinson Miller Bensimon Syndrome	0
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction	1
Schaap Taylor Baraitser Syndrome	0
Sensorineural Deafness and Male Infertility	5
Sensorineural Deafness and Migraine	0
Sensorineural Deafness with Hypertrophic Cardiomyopathy	1
Sensorineural Deafness with Mild Renal Dysfunction	1
Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease	0
Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth	0
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy	0
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness	0
Sudden Hearing Loss	15
Townes-Brocks syndrome +	2
Treft Sanborn Carey Syndrome	0
Tunglang Savage Bellman Syndrome	0
Usher syndrome +	66
Vohwinkel syndrome	1
Wolfram syndrome 2	4
Wolfram syndrome, mitochondrial form	0
X-linked nonsyndromic deafness +	9
aminoglycoside-induced deafness	3
autosomal dominant cerebellar ataxia, deafness and narcolepsy	1
autosomal dominant nonsyndromic deafness +	80
autosomal recessive nonsyndromic deafness +	139
autosomal recessive spinocerebellar ataxia 19	1
autosomal-mitochondrial sensorineural deafness	2
corneal dystrophy-perceptive deafness syndrome	1
cortical deafness +	40
craniofacial-deafness-hand syndrome	1
deafness-intellectual disability, Martin-Probst type syndrome	0
dilated cardiomyopathy 1J	1
distal arthrogryposis type 6	0
dominant optic atrophy plus syndrome	1
high myopia-sensorineural deafness syndrome	1
histiocytosis-lymphadenopathy plus syndrome	1
hypoparathyroidism-deafness-renal disease syndrome	67
ocular albinism with sensorineural deafness	3
otospondylomegaepiphyseal dysplasia, autosomal recessive	2
palmoplantar keratoderma-deafness syndrome	3
split hand-foot malformation 1 with sensorineural hearing loss	1
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis	1
thiamine-responsive megaloblastic anemia syndrome	1
uveal coloboma-cleft lip and palate-intellectual disability	1

paths to the root