MCID: NNS007
MIFTS: 42

Nonsyndromic Deafness malady

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

Aliases & Classifications for Nonsyndromic Deafness

Aliases & Descriptions for Nonsyndromic Deafness:

Name: Nonsyndromic Deafness 12 71 25 29 14 69
Nonsyndromic Hearing Loss 12 25
Nonsyndromic Hearing Loss and Deafness 25
Nonsyndromic Hereditary Hearing Loss 12
Nonsyndromic Hearing Impairment 25
Deafness, Nonsyndromic 13
Isolated Deafness 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0050563

Summaries for Nonsyndromic Deafness

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/superpathways is Gap junction trafficking. Related phenotypes are behavior/neurological and hearing/vestibular/ear

Disease Ontology : 12 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

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)
id Related Disease Score Top Affiliating Genes
1 autosomal dominant nonsyndromic deafness 20 33.5 STRC TMPRSS3
2 autosomal dominant nonsyndromic deafness 66 33.5 DFNA5 TECTA
3 autosomal recessive nonsyndromic deafness 97 33.5 GJB2 MYO15A MYO6 OTOF TECTA
4 autosomal dominant nonsyndromic deafness 69 33.4 COCH DFNA5 GJB2 OTOF STRC TMPRSS3
5 x-linked nonsyndromic deafness 32.9 CEACAM16 COCH DFNA5 DFNB59 GIPC3 GJB2
6 deafness, autosomal dominant 2a 32.8 COCH GJB2 GJB6 KCNQ4 TMPRSS3
7 dfnx1 nonsyndromic hearing loss and deafness 12.2
8 dfna2 nonsyndromic hearing loss 12.2
9 nonsyndromic hearing loss and deafness 12.1
10 autosomal recessive nonsyndromic deafness 12.1
11 autosomal dominant nonsyndromic deafness 12.1
12 autosomal recessive nonsyndromic deafness 3 12.0
13 autosomal recessive nonsyndromic deafness 47 12.0
14 autosomal recessive nonsyndromic deafness 8 12.0
15 autosomal dominant nonsyndromic deafness 12 12.0
16 autosomal dominant nonsyndromic deafness 6 12.0
17 autosomal dominant nonsyndromic deafness 68 11.9
18 autosomal dominant nonsyndromic deafness 70 11.9
19 autosomal recessive nonsyndromic deafness 105 11.9
20 deafness, nonsyndromic, modifier 1 11.7
21 deafness, autosomal recessive 98 11.5
22 deafness, autosomal dominant 43 11.4
23 deafness, autosomal recessive 49 11.4
24 deafness, autosomal recessive 37 11.4
25 deafness, autosomal recessive 63 11.4
26 deafness, autosomal recessive 22 11.4
27 deafness, autosomal dominant 17 11.4
28 deafness, autosomal recessive 88 11.4
29 deafness, autosomal dominant 1 11.4
30 deafness, autosomal dominant 10 11.4
31 deafness, autosomal recessive 7 11.4
32 deafness, autosomal recessive 2 11.4
33 deafness, autosomal recessive 89 11.4
34 deafness, autosomal dominant 16 11.4
35 deafness, autosomal dominant 54 11.4
36 deafness, autosomal dominant 36 11.4
37 deafness, autosomal dominant 11 11.4
38 deafness, autosomal recessive 85 11.4
39 deafness, autosomal recessive 27 11.4
40 deafness, autosomal dominant 15 11.4
41 deafness, autosomal dominant 51 11.4
42 deafness, autosomal recessive 21 11.4
43 deafness, autosomal recessive 46 11.4
44 deafness, autosomal recessive 28 11.4
45 deafness, autosomal recessive 96 11.4
46 deafness, autosomal recessive 59 11.4
47 deafness, autosomal dominant 52 11.4
48 deafness, autosomal recessive 44 11.4
49 deafness, autosomal recessive 24 11.4
50 deafness, autosomal recessive 77 11.4

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



Diseases related to Nonsyndromic Deafness

Symptoms & Phenotypes for Nonsyndromic Deafness

MGI Mouse Phenotypes related to Nonsyndromic Deafness:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 DFNB59 GIPC3 GJB6 MARVELD2 MYO15A MYO6
2 hearing/vestibular/ear MP:0005377 9.93 MARVELD2 MYO15A MYO6 OTOA OTOF POU3F4
3 nervous system MP:0003631 9.55 DFNA5 DFNB59 GIPC3 GJB2 GJB6 KCNQ4

Drugs & Therapeutics for Nonsyndromic Deafness

Interventional clinical trials:


id Name Status NCT ID Phase
1 Epidemiology of Non-syndromic Dominant Deafness Completed NCT01150305
2 Non-Syndrome Hereditary Hearing Impairment - Gene Mapping: India/Pakistan Protocol Recruiting NCT00341874
3 Rate of Progression in USH2A Related Retinal Degeneration Recruiting NCT03146078
4 Clinical and Genetic Analysis of Enlarged Vestibular Aqueducts Recruiting NCT00023036
5 Genetic Analysis of Human Hereditary Hearing Impairment Terminated NCT00001606

Search NIH Clinical Center for Nonsyndromic Deafness

Genetic Tests for Nonsyndromic Deafness

Genetic tests related to Nonsyndromic Deafness:

id Genetic test Affiliating Genes
1 Nonsyndromic Deafness 29

Anatomical Context for Nonsyndromic Deafness

Publications for Nonsyndromic Deafness

Articles related to Nonsyndromic Deafness:

(show top 50) (show all 71)
id Title Authors Year
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

ClinVar genetic disease variations for Nonsyndromic Deafness:

6 (show top 50) (show all 132)
id Gene Variation Type Significance SNP ID Assembly Location
1 MARVELD2 NM_001038603.2(MARVELD2): c.1498C> T (p.Arg500Ter) single nucleotide variant Pathogenic rs118203957 GRCh37 Chromosome 5, 68728915: 68728915
2 DFNB59 NM_001042702.3(DFNB59): c.499C> T (p.Arg167Ter) single nucleotide variant Pathogenic rs118203989 GRCh37 Chromosome 2, 179320828: 179320828
3 TMC1 NM_138691.2(TMC1): c.1714G> A (p.Asp572Asn) single nucleotide variant Pathogenic rs121908072 GRCh37 Chromosome 9, 75431077: 75431077
4 TMC1 NM_138691.2(TMC1): c.100C> T (p.Arg34Ter) single nucleotide variant Pathogenic rs121908073 GRCh37 Chromosome 9, 75309494: 75309494
5 PCDH15 NM_033056.3(PCDH15): c.400C> G (p.Arg134Gly) single nucleotide variant Pathogenic/Likely pathogenic rs137853003 GRCh37 Chromosome 10, 56128954: 56128954
6 GJB6 NM_006783.4(GJB6): c.31G> A (p.Gly11Arg) single nucleotide variant Pathogenic rs104894415 GRCh37 Chromosome 13, 20797589: 20797589
7 OTOF NM_194248.2(OTOF): c.4491T> A (p.Tyr1497Ter) single nucleotide variant Pathogenic rs80356600 GRCh37 Chromosome 2, 26689591: 26689591
8 OTOF NM_194248.2(OTOF): c.2485C> T (p.Gln829Ter) single nucleotide variant Pathogenic rs80356593 GRCh37 Chromosome 2, 26700078: 26700078
9 KCNQ4 NM_004700.3(KCNQ4): c.853G> A (p.Gly285Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28937588 GRCh37 Chromosome 1, 41285565: 41285565
10 KCNQ4 NM_004700.3(KCNQ4): c.827G> C (p.Trp276Ser) single nucleotide variant Pathogenic rs80358277 GRCh37 Chromosome 1, 41285137: 41285137
11 COCH NM_004086.2(COCH): c.151C> T (p.Pro51Ser) single nucleotide variant Pathogenic rs28938175 GRCh37 Chromosome 14, 31346846: 31346846
12 COCH NM_004086.2(COCH): c.1625G> T (p.Cys542Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121908932 GRCh37 Chromosome 14, 31358969: 31358969
13 MYO6 NM_004999.3(MYO6): c.737A> G (p.His246Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121912560 GRCh37 Chromosome 6, 76551016: 76551016
14 GJB2 NM_004004.5(GJB2): c.231G> A (p.Trp77Ter) single nucleotide variant Pathogenic rs80338944 GRCh37 Chromosome 13, 20763490: 20763490
15 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh37 Chromosome 13, 20763650: 20763650
16 GJB2 NM_004004.5(GJB2): c.229T> C (p.Trp77Arg) single nucleotide variant Pathogenic rs104894397 GRCh37 Chromosome 13, 20763492: 20763492
17 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
18 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
19 GJB2 NM_004004.5(GJB2): c.358_360delGAG (p.Glu120del) deletion Pathogenic rs80338947 GRCh37 Chromosome 13, 20763361: 20763363
20 GJB2 NM_004004.5(GJB2): c.551G> C (p.Arg184Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338950 GRCh37 Chromosome 13, 20763170: 20763170
21 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh37 Chromosome 13, 20763294: 20763294
22 GJB2 NM_004004.5(GJB2): c.223C> T (p.Arg75Trp) single nucleotide variant Pathogenic rs104894402 GRCh37 Chromosome 13, 20763498: 20763498
23 GJB2 NM_004004.5(GJB2): c.235delC (p.Leu79Cysfs) deletion Pathogenic rs80338943 GRCh37 Chromosome 13, 20763486: 20763486
24 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
25 GJB2 NM_004004.5(GJB2): c.109G> A (p.Val37Ile) single nucleotide variant Pathogenic/Likely pathogenic rs72474224 GRCh37 Chromosome 13, 20763612: 20763612
26 GJB2 NM_004004.5(GJB2): c.224G> A (p.Arg75Gln) single nucleotide variant Pathogenic rs28931593 GRCh37 Chromosome 13, 20763497: 20763497
27 GJB2 NM_004004.5(GJB2): c.-23+1G> A single nucleotide variant Pathogenic rs80338940 GRCh37 Chromosome 13, 20766921: 20766921
28 GJB2 NM_004004.5(GJB2): c.250G> C (p.Val84Leu) single nucleotide variant Pathogenic rs104894409 GRCh37 Chromosome 13, 20763471: 20763471
29 GJB2 NM_004004.5(GJB2): c.250G> A (p.Val84Met) single nucleotide variant Pathogenic rs104894409 GRCh37 Chromosome 13, 20763471: 20763471
30 ACTG1 NM_001614.3(ACTG1): c.721G> A (p.Glu241Lys) single nucleotide variant Pathogenic/Likely pathogenic rs267606631 GRCh37 Chromosome 17, 79478295: 79478295
31 GJB2 NM_004004.5(GJB2): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic/Likely pathogenic rs1801002 GRCh37 Chromosome 13, 20763686: 20763686
32 OTOF NM_194248.2(OTOF): c.2122C> T (p.Arg708Ter) single nucleotide variant Pathogenic rs80356590 GRCh37 Chromosome 2, 26702224: 26702224
33 OTOF NM_194248.2(OTOF): c.2348delG (p.Gly783Alafs) deletion Pathogenic rs80356591 GRCh37 Chromosome 2, 26700342: 26700342
34 POU3F4 NM_000307.4(POU3F4): c.499C> T (p.Arg167Ter) single nucleotide variant Pathogenic rs111033345 GRCh37 Chromosome X, 82763831: 82763831
35 POU3F4 NM_000307.4(POU3F4): c.853_854delAT (p.Ile285Argfs) deletion Pathogenic rs397516336 GRCh37 Chromosome X, 82764185: 82764186
36 GJB2 NM_004004.5(GJB2): c.169C> T (p.Gln57Ter) single nucleotide variant Pathogenic rs111033297 GRCh37 Chromosome 13, 20763552: 20763552
37 GJB2 NM_004004.5(GJB2): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic/Likely pathogenic rs111033299 GRCh37 Chromosome 13, 20763438: 20763438
38 GJB2 NM_004004.5(GJB2): c.299_300delAT (p.His100Argfs) deletion Pathogenic rs111033204 GRCh37 Chromosome 13, 20763421: 20763422
39 GJB2 NM_004004.5(GJB2): c.313_326delAAGTTCATCAAGGG (p.Lys105Glyfs) deletion Pathogenic rs111033253 GRCh37 Chromosome 13, 20763395: 20763408
40 GJB2 NM_004004.5(GJB2): c.31_68del38 (p.Gly11Leufs) deletion Pathogenic/Likely pathogenic rs397516873 GRCh37 Chromosome 13, 20763653: 20763690
41 GJB2 NM_004004.5(GJB2): c.365A> T (p.Lys122Ile) single nucleotide variant Pathogenic/Likely pathogenic rs111033295 GRCh37 Chromosome 13, 20763356: 20763356
42 GJB2 NM_004004.5(GJB2): c.370C> T (p.Gln124Ter) single nucleotide variant Pathogenic rs397516874 GRCh37 Chromosome 13, 20763351: 20763351
43 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh37 Chromosome 13, 20763305: 20763305
44 GJB2 NM_004004.5(GJB2): c.426C> A (p.Phe142Leu) single nucleotide variant Pathogenic rs397516877 GRCh37 Chromosome 13, 20763295: 20763295
45 GJB2 NM_004004.5(GJB2): c.44A> C (p.Lys15Thr) single nucleotide variant Pathogenic/Likely pathogenic rs111033217 GRCh37 Chromosome 13, 20763677: 20763677
46 GJB2 NM_004004.5(GJB2) indel Pathogenic rs111033335 GRCh37 Chromosome 13, 20763121: 20763129
47 GJB2 NM_004004.5(GJB2): c.617A> G (p.Asn206Ser) single nucleotide variant Pathogenic rs111033294 GRCh37 Chromosome 13, 20763104: 20763104
48 GJB2 NM_004004.5(GJB2): c.95G> A (p.Arg32His) single nucleotide variant Pathogenic rs111033190 GRCh37 Chromosome 13, 20763626: 20763626
49 MYO15A NM_016239.3(MYO15A): c.7006dupC (p.Gln2336Profs) duplication Pathogenic rs397517286 GRCh37 Chromosome 17, 18052579: 18052579
50 MYO15A NM_016239.3(MYO15A): c.8100delC (p.Lys2701Argfs) deletion Pathogenic rs397517287 GRCh37 Chromosome 17, 18057456: 18057456

Expression for Nonsyndromic Deafness

Search GEO for disease gene expression data for Nonsyndromic Deafness.

Pathways for Nonsyndromic Deafness

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.79 GJB2 GJB6 MYO6

GO Terms for Nonsyndromic Deafness

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

id Name GO ID Score Top Affiliating Genes
1 connexin complex GO:0005922 9.16 GJB2 GJB6
2 stereocilium GO:0032420 9.13 LOXHD1 MYO15A STRC
3 stereocilium tip GO:0032426 8.8 CEACAM16 STRC TMC1

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

id Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.58 CEACAM16 COCH DFNA5 DFNB59 GJB2 GJB6
2 cell-matrix adhesion GO:0007160 9.43 OTOA STRC TECTA
3 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.16 STRC TMC1
4 inner ear development GO:0048839 9.13 GJB2 GJB6 POU3F4

Sources for Nonsyndromic Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....