autosomal dominant nonsyndromic deafness - Ontology Report

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

PMID:25741868 PMID:33111345

NCBI chr 4:93,912,068...93,914,163
Ensembl chr 4:93,912,068...93,914,154

Atp2b2

ATPase plasma membrane Ca2+ transporting 2

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

NCBI chr 4:146,894,602...147,208,060
Ensembl chr 4:146,896,332...147,140,665

Diablo

diablo, IAP-binding mitochondrial protein

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

NCBI chr12:33,055,784...33,070,401
Ensembl chr12:33,055,263...33,070,387

Greb1l

GREB1 like retinoic acid receptor coactivator

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

PMID:25741868 PMID:32585897

NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067

Myo6

myosin VI

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

NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292

Pde1c

phosphodiesterase 1C

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

PMID:29860631

NCBI chr 4:85,300,858...85,777,948
Ensembl chr 4:85,300,858...85,863,219

Pls1

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 chr 8:96,316,703...96,426,592
Ensembl chr 8:96,317,849...96,385,195

Six1

SIX homeobox 1

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

NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975

autosomal dominant auditory neuropathy 1

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Diaph3

diaphanous-related formin 3

OMIM:609129
ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 | ClinVar Annotator: match by term: DIAPH3-related condition
CTD Direct Evidence: marker/mechanism

OMIM
MouseDO
ClinVar
CTD

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

NCBI chr15:62,543,375...63,013,060
Ensembl chr15:62,543,375...63,012,975

Autosomal Dominant Auditory Neuropathy 2

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Atp11a

ATPase phospholipid transporting 11A

OMIM

NCBI chr16:76,657,752...76,767,640
Ensembl chr16:76,657,752...76,767,640

autosomal dominant auditory neuropathy 3

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Tmem43

transmembrane protein 43

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

PMID:18230648 PMID:20435227 PMID:21214875 PMID:21391237 PMID:21636032 More...

NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825

Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Dspp

dentin sialophosphoprotein

CTD Direct Evidence: marker/mechanism
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
DNA:missense mutations:cds:p.P17T, p.V18P (human)

OMIM
CTD
ClinVar
RGD

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

RGD:12910984

NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672

Autosomal Dominant Deafness 4

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Myh14

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 1:95,096,266...95,158,861
Ensembl chr 1:95,096,266...95,158,836

autosomal dominant nonsyndromic deafness 1

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Diaph1

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
CTD Direct Evidence: marker/mechanism

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

NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172

Ecscr

endothelial cell surface expressed chemotaxis and apoptosis regulator

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

NCBI chr18:27,309,711...27,319,106
Ensembl chr18:27,309,718...27,319,032

Eif4ebp3

eukaryotic translation initiation factor 4E binding protein 3

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

NCBI chr18:28,263,089...28,268,033
Ensembl chr18:28,162,311...28,268,024

autosomal dominant nonsyndromic deafness 10

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Eya4

EYA transcriptional coactivator and phosphatase 4

ClinVar Annotator: match by term: Deafness, autosomal dominant 10 | ClinVar Annotator: match by term: EYA4-Related Disorders
CTD Direct Evidence: marker/mechanism

PMID:9536098 PMID:11159937 PMID:15735644 PMID:17567890 PMID:17568404 More...

NCBI chr 1:22,172,275...22,415,978
Ensembl chr 1:22,172,275...22,415,976

autosomal dominant nonsyndromic deafness 11

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Myo7a

myosin VIIA

ClinVar Annotator: match by term: Deafness, autosomal dominant 11
CTD Direct Evidence: marker/mechanism

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

NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157

autosomal dominant nonsyndromic deafness 12

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Tecta

tectorin alpha

ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12
OMIM:601543
CTD Direct Evidence: marker/mechanism

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

NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707

autosomal dominant nonsyndromic deafness 13

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Col11a2

collagen type XI alpha 2 chain

ClinVar Annotator: match by term: Deafness, autosomal dominant 13
OMIM:601868
CTD Direct Evidence: marker/mechanism

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

NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985

autosomal dominant nonsyndromic deafness 15

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Pou4f3

POU class 4 homeobox 3

ClinVar Annotator: match by term: Deafness, autosomal dominant 15 | ClinVar Annotator: match by term: POU4F3-related condition
CTD Direct Evidence: marker/mechanism

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

NCBI chr18:34,390,205...34,392,797
Ensembl chr18:34,390,205...34,392,797

autosomal dominant nonsyndromic deafness 16

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Strc

stereocilin

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

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

NCBI chr 3:108,335,920...108,355,114
Ensembl chr 3:108,335,747...108,354,134

autosomal dominant nonsyndromic deafness 17

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Myh9

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
CTD Direct Evidence: marker/mechanism

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

NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457

autosomal dominant nonsyndromic deafness 20

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Actg1

actin, gamma 1

ClinVar Annotator: match by term: Deafness, autosomal dominant 20
CTD Direct Evidence: marker/mechanism

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

NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
Ensembl chr 3:105,619,737...105,624,232

autosomal dominant nonsyndromic deafness 21

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Ripor2

RHO family interacting cell polarization regulator 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 21

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

NCBI chr17:40,323,748...40,547,482
Ensembl chr17:40,323,867...40,548,092

autosomal dominant nonsyndromic deafness 22

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Myo6

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
OMIM:606346
CTD Direct Evidence: marker/mechanism

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

NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292

autosomal dominant nonsyndromic deafness 23

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Six1

SIX homeobox 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 23

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

NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975

autosomal dominant nonsyndromic deafness 25

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Slc17a8

solute carrier family 17 member 8

OMIM:605583
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 25

OMIM
MouseDO
CTD
ClinVar

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

NCBI chr 7:23,994,212...24,049,498
Ensembl chr 7:23,994,217...24,048,079

Trpv4

transient receptor potential cation channel, subfamily V, member 4

ISS

OMIM:605583

MouseDO

NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517

autosomal dominant nonsyndromic deafness 27

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Rest

RE1-silencing transcription factor

susceptibility

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

ClinVar Annotator: match by term: Deafness, autosomal dominant 27
CTD Direct Evidence: marker/mechanism

ClinVar
OMIM
CTD

NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354

autosomal dominant nonsyndromic deafness 28

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Grhl2

grainyhead-like transcription factor 2

DNA:nonsense mutation:exon:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 28

CTD
ClinVar
OMIM
RGD

PMID:12393799 PMID:23813623 PMID:24033266 PMID:25741868 PMID:28492532 More...

RGD:1599382

NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258

autosomal dominant nonsyndromic deafness 2A

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Kcnq4

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
CTD Direct Evidence: marker/mechanism

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

NCBI chr 5:134,275,145...134,326,992
Ensembl chr 5:134,275,934...134,326,932

autosomal dominant nonsyndromic deafness 2B

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Gjb3

gap junction protein, beta 3

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 2b

CTD
ClinVar

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

NCBI chr 5:139,649,227...139,654,970
Ensembl chr 5:139,649,195...139,654,980

autosomal dominant nonsyndromic deafness 30

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Myo3a

myosin IIIA

ClinVar Annotator: match by term: Deafness, autosomal dominant 30

PMID:32519820

NCBI chr17:84,543,465...84,759,562
Ensembl chr17:84,543,552...84,759,042

autosomal dominant nonsyndromic deafness 33

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Atp11a

ATPase phospholipid transporting 11A

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

PMID:25741868 PMID:30311386 PMID:35278131

NCBI chr16:76,657,752...76,767,640
Ensembl chr16:76,657,752...76,767,640

autosomal dominant nonsyndromic deafness 34

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Nlrp3

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 chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811

autosomal dominant nonsyndromic deafness 36

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Tmc1

transmembrane channel-like 1

ClinVar Annotator: match by term: Deafness, autosomal dominant 36 | ClinVar Annotator: match by term: TMC1-related condition
OMIM:606705
CTD Direct Evidence: marker/mechanism

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

NCBI chr 1:218,275,249...218,446,013
Ensembl chr 1:218,276,417...218,445,955

Ush2a

usherin

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

NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922

Autosomal Dominant Nonsyndromic Deafness 37

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Col11a1

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 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853

autosomal dominant nonsyndromic deafness 3A

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Gjb2

gap junction protein, beta 2

ClinVar Annotator: match by term: Deafness, autosomal dominant 3a
CTD Direct Evidence: marker/mechanism

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

NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177

Gjb4

gap junction protein, beta 4

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

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

NCBI chr 5:139,675,776...139,679,551
Ensembl chr 5:139,675,780...139,679,667

autosomal dominant nonsyndromic deafness 3B

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Cryl1

crystallin, lambda 1

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

PMID:27480936 PMID:28492532

NCBI chr15:31,427,011...31,545,997
Ensembl chr15:31,427,054...31,545,997

Eef1akmt1

EEF1A lysine methyltransferase 1

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

NCBI chr15:31,694,284...31,711,367
Ensembl chr15:31,694,292...31,711,336

Gja3

gap junction protein, alpha 3

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

NCBI chr15:31,181,360...31,206,820
Ensembl chr15:31,181,369...31,206,810

Gjb2

gap junction protein, beta 2

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

NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177

Gjb6

gap junction protein, beta 6

ClinVar Annotator: match by term: Deafness, autosomal dominant 3b
CTD Direct Evidence: marker/mechanism

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

NCBI chr15:31,284,561...31,294,552
Ensembl chr15:31,284,419...31,294,582

Ift88

intraflagellar transport 88

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

NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147

Il17d

interleukin 17D

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

NCBI chr15:31,671,337...31,688,833

Xpo4

exportin 4

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

NCBI chr15:31,717,016...31,807,723
Ensembl chr15:31,716,762...31,807,908

autosomal dominant nonsyndromic deafness 40

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Crym

crystallin, mu

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 40

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

NCBI chr 1:174,560,423...174,575,660
Ensembl chr 1:174,560,416...174,575,633

autosomal dominant nonsyndromic deafness 41

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

P2rx2

purinergic receptor P2X 2

ClinVar Annotator: match by term: Deafness, autosomal dominant 41 | ClinVar Annotator: match by term: P2RX2-related condition
OMIM:608224
CTD Direct Evidence: marker/mechanism

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

NCBI chr12:46,338,979...46,342,891
Ensembl chr12:46,339,549...46,342,891

autosomal dominant nonsyndromic deafness 44

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Ccdc50

coiled-coil domain containing 50

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 44
DNA:duplication:cds:c.1394_1401dupCACGGCAT(human)

OMIM
CTD
ClinVar
RGD

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

RGD:9685138

NCBI chr11:73,332,798...73,395,333
Ensembl chr11:73,334,248...73,395,150

autosomal dominant nonsyndromic deafness 48

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Myo1a

myosin IA

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

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

NCBI chr 7:63,542,988...63,557,944
Ensembl chr 7:63,542,988...63,557,944

autosomal dominant nonsyndromic deafness 4A

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Ceacam16

CEA cell adhesion molecule 16, tectorial membrane component

ISS

OMIM:600652

MouseDO

NCBI chr 1:79,514,975...79,524,871
Ensembl chr 1:79,514,975...79,524,871

Myh14

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
CTD Direct Evidence: marker/mechanism

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

NCBI chr 1:95,096,266...95,158,861
Ensembl chr 1:95,096,266...95,158,836

autosomal dominant nonsyndromic deafness 4B

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Ceacam16

CEA cell adhesion molecule 16, tectorial membrane component

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 4b

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

NCBI chr 1:79,514,975...79,524,871
Ensembl chr 1:79,514,975...79,524,871

autosomal dominant nonsyndromic deafness 5

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Gsdme

gasdermin E

ClinVar Annotator: match by term: Deafness, autosomal dominant 5
CTD Direct Evidence: marker/mechanism

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

NCBI chr 4:79,258,799...79,321,129
Ensembl chr 4:79,257,804...79,320,806

autosomal dominant nonsyndromic deafness 50

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Mir96

microRNA 96

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 50

PMID:14757864 PMID:19363479

NCBI chr 4:58,788,411...58,788,516
Ensembl chr 4:58,788,411...58,788,516

autosomal dominant nonsyndromic deafness 51

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Tjp2

tight junction protein 2

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

PMID:20602916

NCBI chr 1:221,709,745...221,838,291
Ensembl chr 1:221,709,745...221,838,295

autosomal dominant nonsyndromic deafness 56

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Pappa

pappalysin

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

PMID:21681106 PMID:23936043

NCBI chr 5:78,497,660...78,735,873
Ensembl chr 5:78,498,300...78,730,666

Tnc

tenascin C

ClinVar Annotator: match by term: Deafness, autosomal dominant 56 | ClinVar Annotator: match by term: TNC-related condition
CTD Direct Evidence: marker/mechanism

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

NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624

Tnfsf8

TNF superfamily member 8

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

PMID:21681106 PMID:23936043

NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421

autosomal dominant nonsyndromic deafness 6

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Wfs1

wolframin ER transmembrane glycoprotein

ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38
CTD Direct Evidence: marker/mechanism

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

NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602

autosomal dominant nonsyndromic deafness 64

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

B3gnt4

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

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

PMID:25741868 PMID:28492532

NCBI chr12:33,070,221...33,073,904
Ensembl chr12:33,060,416...33,073,854

Diablo

diablo, IAP-binding mitochondrial protein

ClinVar Annotator: match by term: Deafness, autosomal dominant 64
CTD Direct Evidence: marker/mechanism

PMID:21722859 PMID:25741868 PMID:28492532

NCBI chr12:33,055,784...33,070,401
Ensembl chr12:33,055,263...33,070,387

autosomal dominant nonsyndromic deafness 65

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Ccnf

cyclin F

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

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

NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101

Tbc1d24

TBC1 domain family, member 24

ClinVar Annotator: match by term: Deafness, autosomal dominant 65
CTD Direct Evidence: marker/mechanism

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

NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050

autosomal dominant nonsyndromic deafness 66

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Cd164

CD164 molecule

ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 66
CTD Direct Evidence: marker/mechanism

PMID:25741868 PMID:26197441

NCBI chr20:45,024,051...45,035,628
Ensembl chr20:45,023,973...45,035,634

autosomal dominant nonsyndromic deafness 67

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Osbpl2

oxysterol binding protein-like 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 67

PMID:24033266 PMID:25741868 PMID:25759012 PMID:28492532

NCBI chr 3:167,210,945...167,256,219
Ensembl chr 3:167,210,832...167,256,219

autosomal dominant nonsyndromic deafness 68

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Homer2

homer scaffold protein 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 68

PMID:25741868 PMID:25816005 PMID:30047143

NCBI chr 1:135,558,977...135,659,780
Ensembl chr 1:135,567,414...135,659,772

autosomal dominant nonsyndromic deafness 69

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Kitlg

KIT ligand

ClinVar Annotator: match by term: Deafness, autosomal dominant 69 | ClinVar Annotator: match by term: Deafness, autosomal dominant 69, unilateral or asymmetric
CTD Direct Evidence: marker/mechanism

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

NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214

autosomal dominant nonsyndromic deafness 7

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Lmx1a

LIM homeobox transcription factor 1 alpha

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 7

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

NCBI chr13:79,834,614...79,978,253
Ensembl chr13:79,835,019...79,978,253

autosomal dominant nonsyndromic deafness 70

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Mcm2

minichromosome maintenance complex component 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 70

PMID:25741868 PMID:26196677 PMID:28492532

NCBI chr 4:121,346,434...121,360,962
Ensembl chr 4:121,346,434...121,360,847

autosomal dominant nonsyndromic deafness 71

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Dmxl2

Dmx-like 2

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

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

NCBI chr 8:54,741,164...54,884,948
Ensembl chr 8:54,741,160...54,885,161

autosomal dominant nonsyndromic deafness 72

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Slc44a4

solute carrier family 44, member 4

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

PMID:25741868 PMID:28013291 PMID:28492532

NCBI chr20:3,903,099...3,919,215
Ensembl chr20:3,903,099...3,919,215

autosomal dominant nonsyndromic deafness 73

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Ptprq

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 chr 7:42,834,455...43,016,807
Ensembl chr 7:42,837,109...43,016,917

autosomal dominant nonsyndromic deafness 74

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Pde1c

phosphodiesterase 1C

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

PMID:25741868 PMID:28492532 PMID:29860631

NCBI chr 4:85,300,858...85,777,948
Ensembl chr 4:85,300,858...85,863,219

autosomal dominant nonsyndromic deafness 75

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Trrap

transformation/transcription domain-associated protein

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

PMID:25741868 PMID:28492532 PMID:31231791

NCBI chr12:9,738,006...9,827,708
Ensembl chr12:9,738,006...9,827,674

autosomal dominant nonsyndromic deafness 76

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Pls1

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 chr 8:96,316,703...96,426,592
Ensembl chr 8:96,317,849...96,385,195

autosomal dominant nonsyndromic deafness 77

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Abcc1

ATP binding cassette subfamily C member 1

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

PMID:31273342

NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114

autosomal dominant nonsyndromic deafness 78

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Slc12a2

solute carrier family 12 member 2

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

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

NCBI chr18:51,348,282...51,416,448
Ensembl chr18:51,348,302...51,416,440

Autosomal Dominant Nonsyndromic Deafness 80

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Greb1l

GREB1 like retinoic acid receptor coactivator

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

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

NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067

Myo7a

myosin VIIA

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

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157

Autosomal Dominant Nonsyndromic Deafness 81

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Elmod3

ELMO domain containing 3

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

PMID:25741868 PMID:28492532 PMID:29713870

NCBI chr 4:104,614,665...104,653,122
Ensembl chr 4:104,614,676...104,653,053

Autosomal Dominant Nonsyndromic Deafness 82

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Atp2b2

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 chr 4:146,894,602...147,208,060
Ensembl chr 4:146,896,332...147,140,665

Autosomal Dominant Nonsyndromic Deafness 83

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Map1b

microtubule-associated protein 1B

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

PMID:25741868 PMID:33268592

NCBI chr 2:30,817,261...30,910,458
Ensembl chr 2:30,817,261...30,910,317

Autosomal Dominant Nonsyndromic Deafness 84

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Atp11a

ATPase phospholipid transporting 11A

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

PMID:25741868 PMID:30311386 PMID:35278131

NCBI chr16:76,657,752...76,767,640
Ensembl chr16:76,657,752...76,767,640

Autosomal Dominant Nonsyndromic Deafness 85

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Usp48

ubiquitin specific peptidase 48

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

PMID:25741868 PMID:34059922

NCBI chr 5:149,800,189...149,867,838
Ensembl chr 5:149,800,179...149,867,719

Autosomal Dominant Nonsyndromic Deafness 86

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Thoc1

THO complex subunit 1

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

PMID:32776944

NCBI chr18:983,824...1,019,123
Ensembl chr18:983,824...1,019,114

Autosomal Dominant Nonsyndromic Deafness 87

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Pi4kb

phosphatidylinositol 4-kinase beta

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

PMID:33358777

NCBI chr 2:182,540,377...182,572,684
Ensembl chr 2:182,540,567...182,588,488

Autosomal Dominant Nonsyndromic Deafness 88

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Epha10

EPH receptor A10

ClinVar Annotator: match by term: Deafness, autosomal dominant 88

NCBI chr 5:137,139,588...137,175,637
Ensembl chr 5:137,140,735...137,174,157

Autosomal Dominant Nonsyndromic Deafness 89

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Atoh1

atonal bHLH transcription factor 1

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

PMID:25741868 PMID:33111345

NCBI chr 4:93,912,068...93,914,163
Ensembl chr 4:93,912,068...93,914,154

autosomal dominant nonsyndromic deafness 9

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Coch

cochlin

ClinVar Annotator: match by term: Deafness, autosomal dominant 9
OMIM:601369
CTD Direct Evidence: marker/mechanism

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

NCBI chr 6:69,031,139...69,045,124
Ensembl chr 6:69,031,167...69,045,109

Autosomal Dominant Nonsyndromic Deafness 90

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Myo3a

myosin IIIA

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