MCID: NNS007
MIFTS: 42

Nonsyndromic Deafness malady

Categories: Genetic diseases, Ear diseases, Neuronal diseases, Rare diseases, Fetal diseases, Cardiovascular diseases

Aliases & Classifications for Nonsyndromic Deafness

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Aliases & Descriptions for Nonsyndromic Deafness:

Name: Nonsyndromic Deafness 11 71 25 27 13 68
Nonsyndromic Hearing Loss 11 25
Nonsyndromic Hearing Loss and Deafness 25
Nonsyndromic Hereditary Hearing Loss 11
 
Nonsyndromic Hearing Impairment 25
Deafness, Nonsyndromic 12
Isolated Deafness 25

Classifications:



External Ids:

Disease Ontology11 DOID:0050563

Summaries for Nonsyndromic Deafness

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Genetics Home Reference:25 Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. In contrast, syndromic hearing loss occurs with signs and symptoms affecting other parts of the body.

MalaCards based summary: Nonsyndromic Deafness, also known as nonsyndromic hearing loss, is related to autosomal dominant nonsyndromic deafness 20 and autosomal dominant nonsyndromic deafness 66. An important gene associated with Nonsyndromic Deafness is GJB2 (Gap Junction Protein Beta 2), and among its related pathways is Gap junction trafficking. Related mouse phenotypes are behavior/neurological and hearing/vestibular/ear.

Disease Ontology:11 An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms.

Wikipedia:71 Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast,... more...

Related Diseases for Nonsyndromic Deafness

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Diseases in the Familial Deafness family:

Deafness, Autosomal Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 32
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 49
Deafness, Autosomal Recessive 45 Deafness, Autosomal Recessive 9
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 70
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 88
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 27
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 6
Deafness, Autosomal Recessive 42 Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 6/14/38
Deafness, Autosomal Recessive 25 Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 55 Deafness, Autosomal Recessive 26
Deafness, Autosomal Dominant 24 Deafness, Autosomal Recessive 49
Deafness, Autosomal Dominant 1 Deafness, Autosomal Dominant 54
Deafness, Autosomal Dominant 15 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 91
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 104
Deafness, Autosomal Recessive 66 Deafness, Autosomal Dominant 13
Deafness, Autosomal Recessive 53 Deafness, Autosomal Dominant 31
Deafness, Autosomal Recessive 67 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 10 Deafness, Autosomal Recessive 38
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 39 Deafness, Autosomal Recessive 61
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 17
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 13
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 28
Deafness, Autosomal Recessive 83 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 31
Deafness, Autosomal Dominant 56 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 18a Deafness, Autosomal Recessive 18b
Deafness, Autosomal Dominant 59 Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 93 Deafness, Autosomal Recessive 63
Deafness, Autosomal Recessive 2 Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 8/12 Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 24 Deafness, Autosomal Recessive 20
Deafness, Autosomal Recessive 62 Deafness, Autosomal Recessive 102
Deafness, Autosomal Dominant 48 Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 84b
Deafness, Autosomal Dominant 25 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 3b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Dominant 33
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 48 Deafness, Autosomal Dominant 30
Deafness , Autosomal Recessive 86 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 20/26
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 15 Deafness, Autosomal Recessive 68
Deafness, Autosomal Recessive 76 Deafness, Autosomal Dominant 4b
Deafness, Autosomal Dominant 4a Deafness, Autosomal Dominant 67
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 29
Deafness, Autosomal Recessive 8/10 Deafness, Autosomal Recessive 98
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 40
Deafness, Autosomal Recessive 28 nonsyndromic deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 8
Autosomal Recessive Nonsyndromic Deafness 97 Autosomal Dominant Nonsyndromic Deafness 12
Autosomal Dominant Nonsyndromic Deafness 20 Autosomal Dominant Nonsyndromic Deafness 6
Autosomal Dominant Nonsyndromic Deafness 66 Autosomal Dominant Nonsyndromic Deafness 68
Autosomal Dominant Nonsyndromic Deafness 69 Autosomal Dominant Nonsyndromic Deafness 70
Otof-Related Deafness

Diseases related to Nonsyndromic Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 204)
idRelated DiseaseScoreTop Affiliating Genes
1autosomal dominant nonsyndromic deafness 2033.5STRC, TMPRSS3
2autosomal dominant nonsyndromic deafness 6633.5DFNA5, TECTA
3autosomal recessive nonsyndromic deafness 9733.5GJB2, MYO15A, MYO6, OTOF, TECTA
4autosomal dominant nonsyndromic deafness 6933.4COCH, DFNA5, GJB2, OTOF, STRC, TMPRSS3
5x-linked nonsyndromic deafness32.9CEACAM16, COCH, DFNA5, DFNB59, GIPC3, GJB2
6deafness, autosomal dominant 2a32.8COCH, GJB2, GJB6, KCNQ4, TMPRSS3
7dfnx1 nonsyndromic hearing loss and deafness12.2
8dfna2 nonsyndromic hearing loss12.2
9nonsyndromic hearing loss and deafness12.1
10autosomal recessive nonsyndromic deafness12.1
11autosomal dominant nonsyndromic deafness12.1
12autosomal recessive nonsyndromic deafness 312.0
13autosomal recessive nonsyndromic deafness 4712.0
14autosomal recessive nonsyndromic deafness 812.0
15autosomal dominant nonsyndromic deafness 1212.0
16autosomal dominant nonsyndromic deafness 612.0
17autosomal recessive nonsyndromic deafness 10511.9
18autosomal dominant nonsyndromic deafness 6811.9
19autosomal dominant nonsyndromic deafness 7011.9
20deafness, nonsyndromic, modifier 111.7
21deafness, autosomal recessive 9811.5
22deafness, autosomal recessive 9611.4
23deafness, autosomal recessive 3611.4
24deafness, autosomal recessive 3211.4
25deafness, autosomal dominant 711.4
26deafness, autosomal dominant 4911.4
27deafness, autosomal recessive 911.4
28deafness, autosomal dominant 4311.4
29deafness, autosomal recessive 8811.4
30deafness, autosomal dominant 1611.4
31deafness, autosomal recessive 2711.4
32deafness, autosomal recessive 5911.4
33deafness, autosomal recessive 611.4
34deafness, autosomal recessive 4211.4
35deafness, autosomal dominant 1811.4
36deafness, autosomal dominant 4411.4
37deafness, autosomal recessive 2511.4
38deafness, autosomal recessive 2611.4
39deafness, autosomal recessive 4911.4
40deafness, autosomal dominant 111.4
41deafness, autosomal dominant 5411.4
42deafness, autosomal dominant 1511.4
43deafness, autosomal dominant 5211.4
44deafness, autosomal recessive 10111.4
45deafness, autosomal recessive 9111.4
46deafness, autosomal dominant 2111.4
47deafness, autosomal recessive 6611.4
48deafness, autosomal dominant 1311.4
49deafness, autosomal recessive 5311.4
50deafness, autosomal dominant 3111.4

Graphical network of the top 20 diseases related to Nonsyndromic Deafness:



Diseases related to nonsyndromic deafness

Symptoms & Phenotypes for Nonsyndromic Deafness

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MGI Mouse Phenotypes related to Nonsyndromic Deafness according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538611.0CEACAM16, DFNB59, GIPC3, GJB6, MARVELD2, MYO15A
2MP:000537710.9CEACAM16, COCH, DFNA5, DFNB59, GIPC3, GJB2
3MP:000363110.1DFNA5, DFNB59, GIPC3, GJB2, GJB6, KCNQ4

Drugs & Therapeutics for Nonsyndromic Deafness

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Epidemiology of Non-syndromic Dominant DeafnessCompletedNCT01150305
2Non-Syndrome Hereditary Hearing Impairment - Gene Mapping: India/Pakistan ProtocolRecruitingNCT00341874
3Rate of Progression in USH2A Related Retinal DegenerationRecruitingNCT03146078
4Clinical and Genetic Analysis of Enlarged Vestibular AqueductsRecruitingNCT00023036
5Genetic Analysis of Human Hereditary Hearing ImpairmentTerminatedNCT00001606

Search NIH Clinical Center for Nonsyndromic Deafness

Genetic Tests for Nonsyndromic Deafness

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Genetic tests related to Nonsyndromic Deafness:

id Genetic test Affiliating Genes
1 Nonsyndromic Deafness27

Anatomical Context for Nonsyndromic Deafness

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Publications for Nonsyndromic Deafness

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Articles related to Nonsyndromic Deafness:

(show top 50)    (show all 71)
idTitleAuthorsYear
1
A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9. (26631968)
2016
2
CORRIGENDUM: Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. (27494218)
2016
3
Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells. (26173970)
2015
4
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. (26226137)
2015
5
Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family. (26196677)
2015
6
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. (25807530)
2015
7
Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86. (24387994)
2014
8
In search of genetic markers for nonsyndromic deafness in Africa: a study in Cameroonians and Black South Africans with the GJB6 and GJA1 candidate genes. (24785695)
2014
9
Sequencing of GJB2 in Cameroonians and Black South Africans and comparison to 1000 Genomes Project Data Support Need to Revise Strategy for Discovery of Nonsyndromic Deafness Genes in Africans. (25162826)
2014
10
Investigation of the A1555G mutation in mitochondrial DNA (MT-RNR1) in groups of Brazilian individuals with nonsyndromic deafness and normal-hearing. (23901193)
2013
11
Genetic mutations in nonsyndromic deafness patients of Chinese minority and han ethnicities in Yunnan, China. (24341454)
2013
12
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. (23023331)
2012
13
Autosomal recessive nonsyndromic deafness genes: a review. (22652773)
2012
14
Taperin (c9orf75), a mutated gene in nonsyndromic deafness, encodes a vertebrate specific, nuclear localized protein phosphatase one alpha (PP1I+) docking protein. (23213405)
2012
15
Changes in the connexin 26 (GJB2) gene in Russian patients with hearing disorders: results of long-term molecular diagnostics of hereditary nonsyndromic deafness]. (22567861)
2012
16
Mitochondrial DNA mutation screening in an ethnically diverse nonsyndromic deafness cohort. (22853457)
2012
17
Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness. (20563649)
2011
18
Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey. (21117948)
2011
19
Deleterious mutation in GPSM2 identified as cause for nonsyndromic deafness. (21029073)
2011
20
DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3. (19603065)
2010
21
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. (20170899)
2010
22
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. (19646679)
2009
23
Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness. (19645626)
2009
24
Function and expression pattern of nonsyndromic deafness genes. (19601806)
2009
25
Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy. (19728075)
2009
26
A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells. (19270079)
2009
27
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15. (19107147)
2009
28
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. (18953341)
2008
29
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. (18181211)
2008
30
Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. (18674745)
2008
31
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. (18719945)
2008
32
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. (17690910)
2007
33
A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness. (17473676)
2007
34
GJB6 gene mutation analysis in Chinese nonsyndromic deaf population]. (17438853)
2007
35
Vestibular system in infants with hereditary nonsyndromic deafness. (17898670)
2007
36
Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. (17066295)
2007
37
Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan. (17259707)
2007
38
Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan. (17033161)
2007
39
A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness. (16941638)
2006
40
Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31. (15637723)
2005
41
Sequence analysis of the mitochondrial genome from a large family with maternally inherited nonsyndromic deafness. (16086269)
2005
42
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1. (15538632)
2005
43
Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree. (15605408)
2005
44
A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12. (16158433)
2005
45
Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness. (16365218)
2005
46
Maternal origin of a de novo mutation of the connexin 26 gene resulting in recessive nonsyndromic deafness. (14735592)
2004
47
Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness. (15131355)
2004
48
Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness. (14960712)
2004
49
Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. (14681830)
2004
50
Making sense of nonsyndromic deafness. (12707186)
2003

Variations for Nonsyndromic Deafness

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Clinvar genetic disease variations for Nonsyndromic Deafness:

5 (show all 130)
id Gene Variation Type Significance SNP ID Assembly Location
1MARVELD2NM_ 001038603.2(MARVELD2): c.1498C> T (p.Arg500Ter)SNVPathogenicrs118203957GRCh37Chr 5, 68728915: 68728915
2DFNB59NM_ 001042702.3(DFNB59): c.499C> T (p.Arg167Ter)SNVPathogenicrs118203989GRCh37Chr 2, 179320828: 179320828
3GJB2NM_ 004004.5(GJB2): c.298C> T (p.His100Tyr)SNVPathogenic/ Likely pathogenicrs143343083GRCh37Chr 13, 20763423: 20763423
4GJB2NM_ 004004.5(GJB2): c.647_ 650delGATA (p.Arg216Ilefs)deletionPathogenic/ Likely pathogenicrs587783647GRCh37Chr 13, 20763071: 20763074
5LOXHD1NM_ 144612.6(LOXHD1): c.4099G> T (p.Glu1367Ter)SNVPathogenicrs373937326GRCh37Chr 18, 44114411: 44114411
6LOXHD1NM_ 144612.6(LOXHD1): c.2303delG (p.Gly768Alafs)deletionPathogenicrs727503146GRCh37Chr 18, 44146354: 44146354
7MYO15ANM_ 016239.3(MYO15A): c.5531+1G> ASNVPathogenicrs727503309GRCh37Chr 17, 18044458: 18044458
8MYO15ANM_ 016239.3(MYO15A): c.6046+1G> ASNVPathogenicrs201978571GRCh37Chr 17, 18047111: 18047111
9MYO15ANM_ 016239.3(MYO15A): c.7226delC (p.Pro2409Glnfs)deletionPathogenicrs727503315GRCh37Chr 17, 18053756: 18053756
10MYO15ANM_ 016239.3(MYO15A): c.7893+1G> ASNVPathogenicrs727503316GRCh37Chr 17, 18055266: 18055266
11MYO6NM_ 004999.3(MYO6): c.826C> T (p.Arg276Ter)SNVPathogenicrs727503326GRCh37Chr 6, 76554623: 76554623
12OTOANM_ 144672.3(OTOA): c.(?_ 2302)_ (2431_ ?)del (p.(?))deletionPathogenicGRCh37Chr 16, 21747582: 21747711
13OTOANM_ 144672.3(OTOA): c.1688+1G> TSNVPathogenicrs727503350GRCh37Chr 16, 21730513: 21730513
14OTOANM_ 144672.3(OTOA): c.1880+1G> ASNVPathogenicrs148690740GRCh38Chr 16, 21722979: 21722979
15OTOFNM_ 194248.2(OTOF): c.5203delC (p.Arg1735Glyfs)deletionPathogenicrs727503352GRCh37Chr 2, 26685039: 26685039
16OTOFNM_ 194248.2(OTOF): c.4799+1G> ASNVPathogenicrs200147906GRCh38Chr 2, 26465671: 26465671
17STRCNC_ 000015.10: g.(?_ 43599672)_ (43618722_ ?)deldeletionPathogenicGRCh37Chr 15, 43891870: 43910920
18STRCNC_ 000015.10: g.(?_ 43600534)_ (43601014_ ?)deldeletionPathogenicGRCh37Chr 15, 43892732: 43893212
19STRCNC_ 000015.10: g.(?_ 43600534)_ (43605399_ ?)deldeletionPathogenicGRCh37Chr 15, 43892732: 43897597
20STRCNM_ 153700.2(STRC): c.5188C> T (p.Arg1730Ter)SNVPathogenicrs139956283GRCh38Chr 15, 43600011: 43600011
21STRCNM_ 153700.2(STRC): c.4796_ 4800delGTGGA (p.Cys1599Serfs)deletionPathogenicrs727503442GRCh37Chr 15, 43893114: 43893118
22STRCNM_ 153700.2(STRC): c.4701+1G> ASNVPathogenic/ Likely pathogenicrs199839039GRCh37Chr 15, 43893593: 43893593
23STRCNM_ 153700.2(STRC): c.4195G> T (p.Glu1399Ter)SNVPathogenicrs371513959GRCh37Chr 15, 43896582: 43896582
24STRCNM_ 153700.2(STRC): c.3670C> T (p.Arg1224Ter)SNVPathogenicrs727503444GRCh37Chr 15, 43900289: 43900289
25TMPRSS3NM_ 024022.2(TMPRSS3): c.208delC (p.His70Thrfs)deletionPathogenicrs727503493GRCh37Chr 21, 43809152: 43809152
26TRIOBPNM_ 001039141.2(TRIOBP): c.6598C> T (p.Arg2200Ter)SNVPathogenicrs727503528GRCh37Chr 22, 38165057: 38165057
27GJB2NM_ 004004.5(GJB2): c.231G> A (p.Trp77Ter)SNVPathogenicrs80338944GRCh37Chr 13, 20763490: 20763490
28GJB2NM_ 004004.5(GJB2): c.71G> A (p.Trp24Ter)SNVPathogenicrs104894396GRCh37Chr 13, 20763650: 20763650
29GJB2NM_ 004004.5(GJB2): c.229T> C (p.Trp77Arg)SNVPathogenicrs104894397GRCh37Chr 13, 20763492: 20763492
30GJB2NM_ 004004.5(GJB2): c.35delG (p.Gly12Valfs)deletionPathogenicrs80338939GRCh37Chr 13, 20763686: 20763686
31GJB2NM_ 004004.5(GJB2): c.139G> T (p.Glu47Ter)SNVPathogenicrs104894398GRCh37Chr 13, 20763582: 20763582
32GJB2NM_ 004004.5(GJB2): c.358_ 360delGAG (p.Glu120del)deletionPathogenicrs80338947GRCh37Chr 13, 20763361: 20763363
33GJB2NM_ 004004.5(GJB2): c.551G> C (p.Arg184Pro)SNVPathogenic/ Likely pathogenicrs80338950GRCh37Chr 13, 20763170: 20763170
34GJB2NM_ 004004.5(GJB2): c.427C> T (p.Arg143Trp)SNVPathogenicrs80338948GRCh37Chr 13, 20763294: 20763294
35GJB2NM_ 004004.5(GJB2): c.223C> T (p.Arg75Trp)SNVPathogenicrs104894402GRCh37Chr 13, 20763498: 20763498
36GJB2NM_ 004004.5(GJB2): c.235delC (p.Leu79Cysfs)deletionPathogenicrs80338943GRCh37Chr 13, 20763486: 20763486
37GJB2NM_ 004004.5(GJB2): c.269T> C (p.Leu90Pro)SNVPathogenicrs80338945GRCh37Chr 13, 20763452: 20763452
38GJB2NM_ 004004.5(GJB2): c.109G> A (p.Val37Ile)SNVPathogenic/ Likely pathogenicrs72474224GRCh37Chr 13, 20763612: 20763612
39GJB2NM_ 004004.5(GJB2): c.224G> A (p.Arg75Gln)SNVPathogenicrs28931593GRCh37Chr 13, 20763497: 20763497
40GJB2NM_ 004004.5(GJB2): c.-23+1G> ASNVPathogenicrs80338940GRCh37Chr 13, 20766921: 20766921
41GJB2NM_ 004004.5(GJB2): c.250G> C (p.Val84Leu)SNVPathogenicrs104894409GRCh37Chr 13, 20763471: 20763471
42GJB2NM_ 004004.5(GJB2): c.250G> A (p.Val84Met)SNVPathogenicrs104894409GRCh37Chr 13, 20763471: 20763471
43GJB2NM_ 004004.5(GJB2): c.269dupT (p.Val91Serfs)duplicationPathogenic/ Likely pathogenicrs730880338GRCh38Chr 13, 20189313: 20189313
44TMPRSS3NM_ 024022.2(TMPRSS3): c.1192C> T (p.Gln398Ter)SNVPathogenicrs727504304GRCh38Chr 21, 42376543: 42376543
45MYO15ANM_ 016239.3(MYO15A): c.8714-1G> ASNVPathogenicrs377015931GRCh38Chr 17, 18157155: 18157155
46OTOFNM_ 194248.2(OTOF): c.2991+2T> GSNVPathogenicrs370132645GRCh37Chr 2, 26698780: 26698780
47OTOANC_ 000016.10: g.(?_ 21678515)_ (21760540_ ?)deldeletionPathogenicGRCh37Chr 16, 21689836: 21771861
48TMC1NM_ 138691.2(TMC1): c.22delA (p.Ile8Serfs)deletionPathogenicrs727504554GRCh37Chr 9, 75303630: 75303630
49KCNQ4NM_ 004700.3(KCNQ4): c.459delC (p.Ala154Profs)deletionPathogenicrs727504635GRCh38Chr 1, 40818217: 40818217
50OTOFNM_ 194248.2(OTOF): c.3178delG (p.Ala1060Glnfs)deletionPathogenicrs727504639GRCh37Chr 2, 26697491: 26697491
51RDXNM_ 002906.3(RDX): c.1308delG (p.Lys438Argfs)deletionPathogenicrs727504709GRCh38Chr 11, 110236135: 110236135
52MYO15ANM_ 016239.3(MYO15A): c.10136C> A (p.Ser3379Ter)SNVPathogenicrs546575046GRCh37Chr 17, 18075005: 18075005
53GIPC3NM_ 133261.2(GIPC3): c.279_ 295del17 (p.Gln95Leufs)deletionPathogenicrs727504771GRCh37Chr 19, 3586546: 3586562
54TMC1NM_ 138691.2(TMC1): c.215_ 219dupGGAGG (p.Arg74Glyfs)duplicationPathogenicrs730880359GRCh37Chr 9, 75309609: 75309613
55OTOFNM_ 194248.2(OTOF): c.2818C> T (p.Gln940Ter)SNVPathogenicrs727504936GRCh37Chr 2, 26699044: 26699044
56MYO15ANM_ 016239.3(MYO15A): c.5851delA (p.Ser1951Valfs)deletionPathogenicrs727504995GRCh38Chr 17, 18142781: 18142781
57STRCNM_ 153700.2(STRC): c.3484delT (p.Trp1162Glyfs)deletionPathogenicrs727505074GRCh37Chr 15, 43902524: 43902524
58LOXHD1NM_ 144612.6(LOXHD1): c.3169C> T (p.Arg1057Ter)SNVPathogenicrs727505104GRCh38Chr 18, 46559495: 46559495
59STRCNM_ 153700.2(STRC): c.4402C> T (p.Arg1468Ter)SNVPathogenicrs377480477GRCh37Chr 15, 43895583: 43895583
60LRTOMTNM_ 001145308.4(LRTOMT): c.358+4A> CSNVPathogenic/ Likely pathogenicrs545947177GRCh38Chr 11, 72106214: 72106214
61OTOFNM_ 194248.2(OTOF): c.2977_ 2978delAG (p.Gln994Valfs)deletionPathogenicrs397515597GRCh38Chr 2, 26475927: 26475928
62DFNA5NM_ 004403.2(DFNA5): c.991-15_ 991-13delTTCdeletionPathogenicrs727505273GRCh37Chr 7, 24746008: 24746010
63STRCNM_ 153700.2(STRC): c.(?_ 4376)-190_ (4845_ ?)-68deldeletionPathogenicGRCh37Chr 15, 43892948: 43895799
64ACTG1NM_ 001614.3(ACTG1): c.721G> A (p.Glu241Lys)SNVPathogenic/ Likely pathogenicrs267606631GRCh37Chr 17, 79478295: 79478295
65GJB2NM_ 004004.5(GJB2): c.208C> G (p.Pro70Ala)SNVPathogenicrs200023879GRCh37Chr 13, 20763513: 20763513
66GJB2NM_ 004004.5(GJB2): c.230G> A (p.Trp77Ter)SNVPathogenic/ Likely pathogenicrs104894395GRCh38Chr 13, 20189352: 20189352
67GJB2NM_ 004004.5(GJB2): c.35G> T (p.Gly12Val)SNVPathogenic/ Likely pathogenicrs1801002GRCh37Chr 13, 20763686: 20763686
68OTOFNM_ 194248.2(OTOF): c.2122C> T (p.Arg708Ter)SNVPathogenicrs80356590GRCh37Chr 2, 26702224: 26702224
69OTOFNM_ 194248.2(OTOF): c.2348delG (p.Gly783Alafs)deletionPathogenicrs80356591GRCh37Chr 2, 26700342: 26700342
70OTOGNM_ 001277269.1(OTOG): c.535delG (p.Val179Trpfs)deletionPathogenic/ Likely pathogenicrs876657657GRCh38Chr 11, 17553478: 17553478
71GIPC3NM_ 133261.2(GIPC3): c.411+1G> ASNVPathogenicrs876657692GRCh38Chr 19, 3586681: 3586681
72GJB2NM_ 004004.5(GJB2): c.523_ 533delCCCAACACTGT (p.Pro175Glyfs)deletionPathogenicrs876657693GRCh38Chr 13, 20189049: 20189059
73MARVELD2NM_ 001038603.2(MARVELD2): c.1331+1G> ASNVPathogenicrs762352115GRCh38Chr 5, 69432676: 69432676
74MYO15ANM_ 016239.3(MYO15A): c.1185dupC (p.Glu396Argfs)duplicationPathogenicrs876657707GRCh38Chr 17, 18119985: 18119985
75MYO15ANM_ 016239.3(MYO15A): c.5896C> T (p.Arg1966Ter)SNVPathogenicrs765468034GRCh37Chr 17, 18046140: 18046140
76MYO15ANM_ 016239.3(MYO15A): c.9303+1G> TSNVPathogenicrs876657708GRCh37Chr 17, 18062994: 18062994
77MYO6NM_ 004999.3(MYO6): c.2814_ 2815delAA (p.Arg939Thrfs)deletionPathogenicrs876657709GRCh37Chr 6, 76599929: 76599930
78MYO6NM_ 004999.3(MYO6): c.458C> G (p.Ser153Ter)SNVPathogenicrs876657710GRCh38Chr 6, 75832908: 75832908
79OTOANM_ 144672.3(OTOA): c.746_ 751delCTGCTTinsA (p.Ser249Tyrfs)indelPathogenicrs876657716GRCh38Chr 16, 21697781: 21697786
80OTOGLNM_ 173591.3(OTOGL): c.4987C> T (p.Arg1663Ter)SNVPathogenicrs759174628GRCh37Chr 12, 80733008: 80733008
81OTOGLNM_ 173591.3(OTOGL): c.948delG (p.Leu316Phefs)deletionPathogenicrs766753922GRCh38Chr 12, 80239362: 80239362
82POU3F4NM_ 000307.4(POU3F4): c.607_ 610delCAAA (p.Gln203Glufs)deletionPathogenicrs876657719GRCh38Chr X, 83508931: 83508934
83STRCNM_ 153700.2(STRC): c.(?_ 3499)-60_ (3557_ ?)+31deldeletionPathogenicGRCh37Chr 15, 43901443: 43901592
84STRCNM_ 153700.2(STRC): c.(?_ 4443)_ (4845_ ?)-68deldeletionPathogenicGRCh38Chr 15, 43600750: 43603344
85STRCNM_ 153700.2(STRC): c.1086C> A (p.Tyr362Ter)SNVPathogenicrs876657724GRCh38Chr 15, 43616480: 43616480
86STRCNM_ 153700.2(STRC): c.3217C> T (p.Arg1073Ter)SNVPathogenicrs876657725GRCh37Chr 15, 43903435: 43903435
87STRCNM_ 153700.2(STRC): c.3493C> T (p.Gln1165Ter)SNVPathogenicrs876657726GRCh37Chr 15, 43902515: 43902515
88TECTANM_ 005422.2(TECTA): c.5977C> T (p.Arg1993Ter)SNVPathogenicrs760574657GRCh38Chr 11, 121168903: 121168903
89TMC1NM_ 138691.2(TMC1): c.1236delT (p.Met413Cysfs)deletionPathogenicrs876657727GRCh37Chr 9, 75406813: 75406813
90TMC1NM_ 138691.2(TMC1): c.1676G> A (p.Trp559Ter)SNVPathogenicrs876657728GRCh37Chr 9, 75420407: 75420407
91TMC1NM_ 138691.2(TMC1): c.1677G> A (p.Trp559Ter)SNVPathogenicrs876657729GRCh37Chr 9, 75420408: 75420408
92CEACAM16NM_ 001039213.3(CEACAM16): c.703C> T (p.Arg235Cys)SNVPathogenicrs746164064GRCh38Chr 19, 44705631: 44705631
93USH2ANM_ 206933.2(USH2A): c.9685delG (p.Glu3229Argfs)deletionPathogenicrs878853233GRCh37Chr 1, 215987132: 215987132
94TMC1NM_ 138691.2(TMC1): c.1714G> A (p.Asp572Asn)SNVPathogenicrs121908072GRCh37Chr 9, 75431077: 75431077
95TMC1NM_ 138691.2(TMC1): c.100C> T (p.Arg34Ter)SNVPathogenicrs121908073GRCh37Chr 9, 75309494: 75309494
96POU3F4NM_ 000307.4(POU3F4): c.499C> T (p.Arg167Ter)SNVPathogenicrs111033345GRCh37Chr X, 82763831: 82763831
97POU3F4NM_ 000307.4(POU3F4): c.853_ 854delAT (p.Ile285Argfs)deletionPathogenicrs397516336GRCh37Chr X, 82764185: 82764186
98GJB2NM_ 004004.5(GJB2): c.169C> T (p.Gln57Ter)SNVPathogenicrs111033297GRCh37Chr 13, 20763552: 20763552
99GJB2NM_ 004004.5(GJB2): c.283G> A (p.Val95Met)SNVPathogenic/ Likely pathogenicrs111033299GRCh37Chr 13, 20763438: 20763438
100GJB2NM_ 004004.5(GJB2): c.299_ 300delAT (p.His100Argfs)deletionPathogenicrs111033204GRCh37Chr 13, 20763421: 20763422
101GJB2NM_ 004004.5(GJB2): c.313_ 326delAAGTTCATCAAGGG (p.Lys105Glyfs)deletionPathogenicrs111033253GRCh37Chr 13, 20763395: 20763408
102GJB2NM_ 004004.5(GJB2): c.31_ 68del38 (p.Gly11Leufs)deletionPathogenic/ Likely pathogenicrs397516873GRCh37Chr 13, 20763653: 20763690
103GJB2NM_ 004004.5(GJB2): c.365A> T (p.Lys122Ile)SNVPathogenic/ Likely pathogenicrs111033295GRCh37Chr 13, 20763356: 20763356
104GJB2NM_ 004004.5(GJB2): c.370C> T (p.Gln124Ter)SNVPathogenicrs397516874GRCh37Chr 13, 20763351: 20763351
105GJB2NM_ 004004.5(GJB2): c.416G> A (p.Ser139Asn)SNVPathogenic/ Likely pathogenicrs76434661GRCh37Chr 13, 20763305: 20763305
106GJB2NM_ 004004.5(GJB2): c.426C> A (p.Phe142Leu)SNVPathogenicrs397516877GRCh37Chr 13, 20763295: 20763295
107GJB2NM_ 004004.5(GJB2): c.44A> C (p.Lys15Thr)SNVPathogenic/ Likely pathogenicrs111033217GRCh37Chr 13, 20763677: 20763677
108GJB2NM_ 004004.5(GJB2): c.592_ 600delGTGTCTGGAinsCAGTGTTCATGACATTC (p.Val198Glnfs)indelPathogenicrs111033335GRCh37Chr 13, 20763121: 20763129
109GJB2NM_ 004004.5(GJB2): c.617A> G (p.Asn206Ser)SNVPathogenicrs111033294GRCh37Chr 13, 20763104: 20763104
110GJB2NM_ 004004.5(GJB2): c.95G> A (p.Arg32His)SNVPathogenicrs111033190GRCh37Chr 13, 20763626: 20763626
111MYO15ANM_ 016239.3(MYO15A): c.7006dupC (p.Gln2336Profs)duplicationPathogenicrs397517286GRCh37Chr 17, 18052579: 18052579
112MYO15ANM_ 016239.3(MYO15A): c.8100delC (p.Lys2701Argfs)deletionPathogenicrs397517287GRCh37Chr 17, 18057456: 18057456
113MYO15ANM_ 016239.3(MYO15A): c.8767C> T (p.Arg2923Ter)SNVPathogenicrs373462792GRCh37Chr 17, 18060523: 18060523
114TMPRSS3NM_ 024022.2(TMPRSS3): c.323-6G> ASNVPathogenicrs374793617GRCh37Chr 21, 43808641: 43808641
115TMPRSS3NM_ 024022.2(TMPRSS3): c.325C> T (p.Arg109Trp)SNVPathogenic/ Likely pathogenicrs201632198GRCh37Chr 21, 43808633: 43808633
116TMPRSS3NM_ 024022.2(TMPRSS3): c.413C> A (p.Ala138Glu)SNVPathogenic/ Likely pathogenicrs147231991GRCh37Chr 21, 43808545: 43808545
117TMPRSS3NM_ 024022.2(TMPRSS3): c.579dupA (p.Cys194Metfs)duplicationPathogenicrs397517376GRCh37Chr 21, 43804116: 43804116
118TMPRSS3NM_ 024022.2(TMPRSS3): c.916G> A (p.Ala306Thr)SNVPathogenicrs181949335GRCh37Chr 21, 43802210: 43802210
119LOXHD1NM_ 144612.6(LOXHD1): c.2497C> T (p.Arg833Ter)SNVPathogenicrs188119157GRCh37Chr 18, 44143129: 44143129
120OTOFNM_ 194248.2(OTOF): c.2153G> A (p.Trp718Ter)SNVPathogenicrs111033383GRCh38Chr 2, 26479325: 26479325
121PCDH15NM_ 033056.3(PCDH15): c.400C> G (p.Arg134Gly)SNVPathogenic/ Likely pathogenicrs137853003GRCh37Chr 10, 56128954: 56128954
122GJB6NM_ 006783.4(GJB6): c.31G> A (p.Gly11Arg)SNVPathogenicrs104894415GRCh37Chr 13, 20797589: 20797589
123OTOFNM_ 194248.2(OTOF): c.4491T> A (p.Tyr1497Ter)SNVPathogenicrs80356600GRCh37Chr 2, 26689591: 26689591
124OTOFNM_ 194248.2(OTOF): c.2485C> T (p.Gln829Ter)SNVPathogenicrs80356593GRCh37Chr 2, 26700078: 26700078
125KCNQ4NM_ 004700.3(KCNQ4): c.853G> A (p.Gly285Ser)SNVPathogenic/ Likely pathogenicrs28937588GRCh37Chr 1, 41285565: 41285565
126KCNQ4NM_ 004700.3(KCNQ4): c.827G> C (p.Trp276Ser)SNVPathogenicrs80358277GRCh37Chr 1, 41285137: 41285137
127OTOFNM_ 194248.2(OTOF): c.2239G> T (p.Glu747Ter)SNVPathogenicrs397515591GRCh37Chr 2, 26700593: 26700593
128COCHNM_ 004086.2(COCH): c.151C> T (p.Pro51Ser)SNVPathogenicrs28938175GRCh37Chr 14, 31346846: 31346846
129COCHNM_ 004086.2(COCH): c.1625G> T (p.Cys542Phe)SNVPathogenic/ Likely pathogenicrs121908932GRCh37Chr 14, 31358969: 31358969
130MYO6NM_ 004999.3(MYO6): c.737A> G (p.His246Arg)SNVPathogenic/ Likely pathogenicrs121912560GRCh37Chr 6, 76551016: 76551016

Expression for genes affiliated with Nonsyndromic Deafness

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Search GEO for disease gene expression data for Nonsyndromic Deafness.

Pathways for genes affiliated with Nonsyndromic Deafness

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Pathways related to Nonsyndromic Deafness according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
10.4GJB2, GJB6, MYO6

GO Terms for genes affiliated with Nonsyndromic Deafness

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Cellular components related to Nonsyndromic Deafness according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1connexin complexGO:000592210.9GJB2, GJB6
2stereociliumGO:003242010.6LOXHD1, MYO15A, STRC
3stereocilium tipGO:003242610.4CEACAM16, STRC, TMC1

Biological processes related to Nonsyndromic Deafness according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1detection of mechanical stimulus involved in sensory perception of soundGO:005091011.0STRC, TMC1
2inner ear developmentGO:004883911.0GJB2, GJB6, POU3F4
3cell-matrix adhesionGO:000716011.0OTOA, STRC, TECTA
4sensory perception of soundGO:000760510.1CEACAM16, COCH, DFNA5, DFNB59, GJB2, GJB6

Sources for Nonsyndromic Deafness

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet