MCID: NNS007
MIFTS: 44

Nonsyndromic Deafness

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

Aliases & Classifications for Nonsyndromic Deafness

MalaCards integrated aliases for Nonsyndromic Deafness:

Name: Nonsyndromic Deafness 12 72 24 28 14 69
Nonsyndromic Hearing Loss and Deafness 24 28
Nonsyndromic Hearing Loss 12 24
Nonsyndromic Hereditary Hearing Loss 12
Nonsyndromic Hearing Impairment 24
Deafness, Nonsyndromic 13
Isolated Deafness 24

Classifications:



External Ids:

Disease Ontology 12 DOID:0050563
UMLS 69 C3711374

Summaries for Nonsyndromic Deafness

Genetics Home Reference : 24 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 and deafness, is related to autosomal recessive nonsyndromic deafness and autosomal recessive nonsyndromic deafness 3. An important gene associated with Nonsyndromic Deafness is OTOF (Otoferlin), and among its related pathways/superpathways is Gap junction trafficking. Related phenotypes are hearing/vestibular/ear and behavior/neurological

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.

Related Diseases for Nonsyndromic Deafness

Diseases in the Familial Deafness family:

Deafness, Autosomal Dominant 1 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Recessive 2 Deafness, Autosomal Dominant 2a
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 4a
Deafness, Autosomal Recessive 5 Deafness, Autosomal Dominant 6
Deafness, Autosomal Recessive 6 Deafness, Autosomal Recessive 7
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 9
Deafness, Autosomal Recessive 8 Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 9
Deafness, Autosomal Recessive 12 Deafness, Autosomal Dominant 7
Deafness, Autosomal Dominant 12 Deafness, Autosomal Dominant 3a
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 18a Deafness, Autosomal Dominant 15
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 13
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 20
Deafness, Autosomal Dominant 20 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 25
Deafness, Autosomal Recessive 27 Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 24 Deafness, Autosomal Dominant 22
Deafness, Autosomal Dominant 30 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 31 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive Deafness, Autosomal Recessive 33
Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 37 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 41
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 39
Deafness, Autosomal Dominant 49 Deafness, Autosomal Dominant 43
Deafness, Autosomal Recessive 35 Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 31 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 48
Deafness, Autosomal Recessive 23 Deafness, Autosomal Recessive 42
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 28 Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 47 Deafness, Autosomal Recessive 55
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 49 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 66 Deafness, Autosomal Recessive 59
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 63 Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 45 Deafness, Autosomal Dominant 59
Deafness, Autosomal Dominant 3b Deafness, Autosomal Dominant 2b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Recessive 71
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 25 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 51
Deafness, Autosomal Recessive 83 Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 89
Deafness, Autosomal Recessive 29 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 33 Deafness, Autosomal Recessive 96
Deafness, Autosomal Dominant 4b Deafness, Autosomal Recessive 86
Deafness, Autosomal Recessive 98 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 70 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Recessive 18b Deafness, Autosomal Recessive 88
Deafness, Autosomal Recessive 76 Deafness, Autosomal Dominant 56
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 58
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 102
Deafness, Autosomal Recessive 103 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 67 Deafness, Autosomal Dominant 40
Deafness, Autosomal Recessive 104 Deafness, Autosomal Dominant 69
Deafness, Autosomal Recessive 97 Deafness, Autosomal Dominant 68
Deafness, Autosomal Recessive 105 Deafness, Autosomal Dominant 70
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 71
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 106
Deafness, Autosomal Recessive 107 Deafness, Autosomal Recessive 108
Deafness, Autosomal Dominant 73 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86

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

(show top 50) (show all 184)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive nonsyndromic deafness 34.5 GIPC3 GJB2 MYO15A OTOF TMC1 TMPRSS3
2 autosomal recessive nonsyndromic deafness 3 34.3 GJB2 MYO15A MYO6 OTOF PJVK TECTA
3 autosomal dominant nonsyndromic deafness 34.0 COCH COL11A2 GJB2 GSDME KCNQ4 MYO6
4 deafness, autosomal recessive 49 33.8 GJB2 MARVELD2 POU3F4
5 deafness, autosomal recessive 2 33.6 GJB2 MYO15A MYO6 OTOF TECTA
6 deafness, autosomal recessive 8 33.5 STRC TMPRSS3
7 deafness, autosomal dominant 9 33.5 COCH STRC
8 deafness, autosomal dominant 2a 33.5 COCH GJB2 GJB6 KCNQ4 TMPRSS3
9 deafness, autosomal dominant 24 33.5 GJB2 GJB6
10 deafness, autosomal recessive 30 33.4 GJB2 MYO15A MYO6 TMC1
11 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 33.4 COCH GJB2 GJB6 OTOF
12 deafness, autosomal recessive 37 33.4 MYO15A MYO6 TRIOBP
13 deafness, autosomal recessive 21 33.4 GJB2 TECTA
14 deafness, autosomal dominant 22 33.4 COCH MYO15A MYO6
15 deafness, autosomal recessive 9 33.4 GJB2 OTOF TECTA
16 deafness, autosomal recessive 26 33.4 GJB2 OTOF TECTA
17 deafness, autosomal recessive 1a 33.4 GJB2 GJB6
18 deafness, autosomal recessive 28 33.4 GJB2 TRIOBP
19 deafness, autosomal recessive 1b 33.4 GJB2 GJB6
20 deafness, autosomal recessive 59 33.4 GJB2 OTOF PJVK
21 deafness, autosomal dominant 17 33.3 GSDME MYO15A MYO6
22 deafness, autosomal recessive 67 33.3 COL11A2 GJB2 PJVK
23 deafness, autosomal recessive 77 33.2 LOXHD1 PJVK
24 deafness, autosomal recessive 85 33.2 MYO15A OTOA OTOF PJVK TMPRSS3
25 deafness, autosomal recessive 83 33.2 MYO15A OTOA OTOF PJVK TMPRSS3
26 deafness, autosomal recessive 7 33.2 GJB2 TMC1
27 deafness, autosomal recessive 16 33.2 COCH COL11A2 GJB2 GJB6 OTOF STRC
28 deafness, autosomal dominant 6 33.1 COCH COL11A2 GJB2 GSDME OTOF STRC
29 deafness, autosomal dominant 13 33.1 COCH COL11A2 GJB2 GSDME OTOF STRC
30 deafness, autosomal dominant 11 33.1 MYO15A MYO6
31 deafness, autosomal dominant 36 33.0 GJB2 TMC1
32 deafness, autosomal dominant 12 33.0 COL11A2 TECTA
33 deafness, autosomal dominant 48 32.7 MYO15A MYO6
34 auditory neuropathy, autosomal dominant, 1 32.3 GJB2 OTOF PJVK
35 branchiootic syndrome 1 32.2 GJB2 LOXHD1
36 dfnb1 31.1 GJB2 GJB6 OTOF
37 deafness, autosomal recessive 3 30.9 GJB2 MYO15A
38 sensorineural hearing loss 30.6 COCH GJB2 GJB6 GSDME KCNQ4 MYO15A
39 dfna2 nonsyndromic hearing loss 12.3
40 dfnx1 nonsyndromic hearing loss and deafness 12.3
41 nonsyndromic hearing loss and deafness, dfna3 12.3
42 nonsyndromic hearing loss and deafness, dfnb1 12.3
43 nonsyndromic hearing loss and deafness, mitochondrial 12.3
44 x-linked nonsyndromic deafness 12.2
45 autosomal recessive nonsyndromic deafness 86 12.2
46 autosomal recessive nonsyndromic deafness 36 12.1
47 deafness, nonsyndromic sensorineural, mitochondrial 11.9
48 deafness, nonsyndromic, modifier 1 11.9
49 deafness, autosomal recessive 79 11.7
50 deafness, autosomal dominant 1 11.7

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.93 COCH COL11A2 GIPC3 GJB2 GJB6 GSDME
2 behavior/neurological MP:0005386 9.9 GIPC3 GJB6 MARVELD2 MYO15A MYO6 OTOF
3 nervous system MP:0003631 9.55 MYO6 OTOA OTOF PJVK POU3F4 STRC

Drugs & Therapeutics for Nonsyndromic Deafness

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Epidemiology of Non-syndromic Dominant Deafness Completed NCT01150305
2 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:

# Genetic test Affiliating Genes
1 Nonsyndromic Hearing Loss and Deafness 28
2 Nonsyndromic Deafness 28

Anatomical Context for Nonsyndromic Deafness

Publications for Nonsyndromic Deafness

Articles related to Nonsyndromic Deafness:

(show top 50) (show all 72)
# Title Authors Year
1
Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9. ( 28099493 )
2017
2
A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9. ( 26631968 )
2016
3
CORRIGENDUM: Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. ( 27494218 )
2016
4
Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family. ( 26196677 )
2015
5
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. ( 26226137 )
2015
6
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. ( 25807530 )
2015
7
Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells. ( 26173970 )
2015
8
Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86. ( 24387994 )
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
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
11
Genetic mutations in nonsyndromic deafness patients of Chinese minority and han ethnicities in Yunnan, China. ( 24341454 )
2013
12
Investigation of the A1555G mutation in mitochondrial DNA (MT-RNR1) in groups of Brazilian individuals with nonsyndromic deafness and normal-hearing. ( 23901193 )
2013
13
[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
14
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. ( 23023331 )
2012
15
Mitochondrial DNA mutation screening in an ethnically diverse nonsyndromic deafness cohort. ( 22853457 )
2012
16
Autosomal recessive nonsyndromic deafness genes: a review. ( 22652773 )
2012
17
Taperin (c9orf75), a mutated gene in nonsyndromic deafness, encodes a vertebrate specific, nuclear localized protein phosphatase one alpha (PP1I+) docking protein. ( 23213405 )
2012
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
Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness. ( 20563649 )
2011
21
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. ( 20170899 )
2010
22
DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3. ( 19603065 )
2010
23
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. ( 19646679 )
2009
24
Function and expression pattern of nonsyndromic deafness genes. ( 19601806 )
2009
25
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
26
Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy. ( 19728075 )
2009
27
A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells. ( 19270079 )
2009
28
Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness. ( 19645626 )
2009
29
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. ( 18719945 )
2008
30
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. ( 18181211 )
2008
31
Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. ( 18674745 )
2008
32
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. ( 18953341 )
2008
33
Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan. ( 17033161 )
2007
34
Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. ( 17066295 )
2007
35
A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness. ( 17473676 )
2007
36
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. ( 17690910 )
2007
37
Vestibular system in infants with hereditary nonsyndromic deafness. ( 17898670 )
2007
38
[GJB6 gene mutation analysis in Chinese nonsyndromic deaf population]. ( 17438853 )
2007
39
Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan. ( 17259707 )
2007
40
A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness. ( 16941638 )
2006
41
Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness. ( 16365218 )
2005
42
A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12. ( 16158433 )
2005
43
Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31. ( 15637723 )
2005
44
Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree. ( 15605408 )
2005
45
Sequence analysis of the mitochondrial genome from a large family with maternally inherited nonsyndromic deafness. ( 16086269 )
2005
46
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1. ( 15538632 )
2005
47
Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness. ( 14960712 )
2004
48
Maternal origin of a de novo mutation of the connexin 26 gene resulting in recessive nonsyndromic deafness. ( 14735592 )
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
Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness. ( 15131355 )
2004

Variations for Nonsyndromic Deafness

ClinVar genetic disease variations for Nonsyndromic Deafness:

6 (show top 50) (show all 131)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYO6 NM_004999.3(MYO6): c.737A> G (p.His246Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121912560 GRCh37 Chromosome 6, 76551016: 76551016
2 GJB2 NM_004004.5(GJB2): c.231G> A (p.Trp77Ter) single nucleotide variant Pathogenic rs80338944 GRCh37 Chromosome 13, 20763490: 20763490
3 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh37 Chromosome 13, 20763650: 20763650
4 GJB2 NM_004004.5(GJB2): c.229T> C (p.Trp77Arg) single nucleotide variant Pathogenic rs104894397 GRCh37 Chromosome 13, 20763492: 20763492
5 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
6 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
7 GJB2 NM_004004.5(GJB2): c.358_360delGAG (p.Glu120del) deletion Pathogenic rs80338947 GRCh37 Chromosome 13, 20763361: 20763363
8 GJB2 NM_004004.5(GJB2): c.551G> C (p.Arg184Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338950 GRCh37 Chromosome 13, 20763170: 20763170
9 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh37 Chromosome 13, 20763294: 20763294
10 GJB2 NM_004004.5(GJB2): c.223C> T (p.Arg75Trp) single nucleotide variant Pathogenic rs104894402 GRCh37 Chromosome 13, 20763498: 20763498
11 GJB2 NM_004004.5(GJB2): c.235delC (p.Leu79Cysfs) deletion Pathogenic rs80338943 GRCh37 Chromosome 13, 20763486: 20763486
12 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
13 GJB2 NM_004004.5(GJB2): c.224G> A (p.Arg75Gln) single nucleotide variant Pathogenic rs28931593 GRCh37 Chromosome 13, 20763497: 20763497
14 GJB2 NM_004004.5(GJB2): c.-23+1G> A single nucleotide variant Pathogenic rs80338940 GRCh37 Chromosome 13, 20766921: 20766921
15 GJB2 NM_004004.5(GJB2): c.250G> C (p.Val84Leu) single nucleotide variant Pathogenic rs104894409 GRCh37 Chromosome 13, 20763471: 20763471
16 GJB2 NM_004004.5(GJB2): c.250G> A (p.Val84Met) single nucleotide variant Pathogenic rs104894409 GRCh37 Chromosome 13, 20763471: 20763471
17 ACTG1 NM_001614.3(ACTG1): c.721G> A (p.Glu241Lys) single nucleotide variant Pathogenic/Likely pathogenic rs267606631 GRCh37 Chromosome 17, 79478295: 79478295
18 GJB2 NM_004004.5(GJB2): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic/Likely pathogenic rs1801002 GRCh37 Chromosome 13, 20763686: 20763686
19 OTOF NM_194248.2(OTOF): c.2122C> T (p.Arg708Ter) single nucleotide variant Pathogenic rs80356590 GRCh37 Chromosome 2, 26702224: 26702224
20 OTOF NM_194248.2(OTOF): c.2348delG (p.Gly783Alafs) deletion Pathogenic rs80356591 GRCh37 Chromosome 2, 26700342: 26700342
21 POU3F4 NM_000307.4(POU3F4): c.499C> T (p.Arg167Ter) single nucleotide variant Pathogenic rs111033345 GRCh37 Chromosome X, 82763831: 82763831
22 POU3F4 NM_000307.4(POU3F4): c.853_854delAT (p.Ile285Argfs) deletion Pathogenic rs397516336 GRCh37 Chromosome X, 82764185: 82764186
23 GJB2 NM_004004.5(GJB2): c.169C> T (p.Gln57Ter) single nucleotide variant Pathogenic rs111033297 GRCh37 Chromosome 13, 20763552: 20763552
24 GJB2 NM_004004.5(GJB2): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic/Likely pathogenic rs111033299 GRCh37 Chromosome 13, 20763438: 20763438
25 GJB2 NM_004004.5(GJB2): c.299_300delAT (p.His100Argfs) deletion Pathogenic rs111033204 GRCh37 Chromosome 13, 20763421: 20763422
26 GJB2 NM_004004.5(GJB2): c.313_326delAAGTTCATCAAGGG (p.Lys105Glyfs) deletion Pathogenic rs111033253 GRCh37 Chromosome 13, 20763395: 20763408
27 GJB2 NM_004004.5(GJB2): c.31_68del38 (p.Gly11Leufs) deletion Pathogenic/Likely pathogenic rs397516873 GRCh37 Chromosome 13, 20763653: 20763690
28 GJB2 NM_004004.5(GJB2): c.365A> T (p.Lys122Ile) single nucleotide variant Pathogenic/Likely pathogenic rs111033295 GRCh37 Chromosome 13, 20763356: 20763356
29 GJB2 NM_004004.5(GJB2): c.370C> T (p.Gln124Ter) single nucleotide variant Pathogenic rs397516874 GRCh37 Chromosome 13, 20763351: 20763351
30 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh37 Chromosome 13, 20763305: 20763305
31 GJB2 NM_004004.5(GJB2): c.426C> A (p.Phe142Leu) single nucleotide variant Pathogenic rs397516877 GRCh37 Chromosome 13, 20763295: 20763295
32 GJB2 NM_004004.5(GJB2): c.44A> C (p.Lys15Thr) single nucleotide variant Pathogenic/Likely pathogenic rs111033217 GRCh37 Chromosome 13, 20763677: 20763677
33 GJB2 NM_004004.5(GJB2) indel Pathogenic rs111033335 GRCh37 Chromosome 13, 20763121: 20763129
34 GJB2 NM_004004.5(GJB2): c.617A> G (p.Asn206Ser) single nucleotide variant Pathogenic rs111033294 GRCh37 Chromosome 13, 20763104: 20763104
35 GJB2 NM_004004.5(GJB2): c.95G> A (p.Arg32His) single nucleotide variant Pathogenic rs111033190 GRCh37 Chromosome 13, 20763626: 20763626
36 MYO15A NM_016239.3(MYO15A): c.7006_7007insC (p.Gln2336Profs) insertion Pathogenic rs397517286 GRCh37 Chromosome 17, 18052579: 18052579
37 MYO15A NM_016239.3(MYO15A): c.8100delC (p.Lys2701Argfs) deletion Pathogenic rs397517287 GRCh37 Chromosome 17, 18057456: 18057456
38 MYO15A NM_016239.3(MYO15A): c.8767C> T (p.Arg2923Ter) single nucleotide variant Pathogenic rs373462792 GRCh37 Chromosome 17, 18060523: 18060523
39 TMPRSS3 NM_024022.2(TMPRSS3): c.323-6G> A single nucleotide variant Pathogenic rs374793617 GRCh37 Chromosome 21, 43808641: 43808641
40 TMPRSS3 NM_024022.2(TMPRSS3): c.325C> T (p.Arg109Trp) single nucleotide variant Pathogenic/Likely pathogenic rs201632198 GRCh37 Chromosome 21, 43808633: 43808633
41 TMPRSS3 NM_024022.2(TMPRSS3): c.413C> A (p.Ala138Glu) single nucleotide variant Pathogenic/Likely pathogenic rs147231991 GRCh37 Chromosome 21, 43808545: 43808545
42 TMPRSS3 NM_024022.2(TMPRSS3): c.579_580insA (p.Cys194Metfs) insertion Pathogenic rs397517376 GRCh37 Chromosome 21, 43804116: 43804116
43 TMPRSS3 NM_024022.2(TMPRSS3): c.916G> A (p.Ala306Thr) single nucleotide variant Pathogenic rs181949335 GRCh37 Chromosome 21, 43802210: 43802210
44 OTOF NM_194248.2(OTOF): c.2153G> A (p.Trp718Ter) single nucleotide variant Pathogenic rs111033383 GRCh38 Chromosome 2, 26479325: 26479325
45 LOXHD1 NM_144612.6(LOXHD1): c.2497C> T (p.Arg833Ter) single nucleotide variant Pathogenic/Likely pathogenic rs188119157 GRCh37 Chromosome 18, 44143129: 44143129
46 OTOF NM_194248.2(OTOF): c.2239G> T (p.Glu747Ter) single nucleotide variant Pathogenic rs397515591 GRCh37 Chromosome 2, 26700593: 26700593
47 GJB2 NM_004004.5(GJB2): c.647_650delGATA (p.Arg216Ilefs) deletion Pathogenic/Likely pathogenic rs587783647 GRCh38 Chromosome 13, 20188932: 20188935
48 GJB2 NM_004004.5(GJB2): c.298C> T (p.His100Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs143343083 GRCh38 Chromosome 13, 20189284: 20189284
49 COL11A2 NM_080680.2(COL11A2): c.109G> T (p.Ala37Ser) single nucleotide variant Pathogenic rs606231410 GRCh38 Chromosome 6, 33189443: 33189443
50 DCDC2 NM_001195610.1(DCDC2): c.1271A> C (p.Gln424Pro) single nucleotide variant Pathogenic rs794729665 GRCh38 Chromosome 6, 24178385: 24178385

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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.56 COCH COL11A2 OTOA TECTA
2 connexin complex GO:0005922 9.16 GJB2 GJB6
3 stereocilium tip GO:0032426 8.96 STRC TMC1
4 stereocilium GO:0032420 8.8 LOXHD1 MYO15A STRC

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

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.58 COCH COL11A2 GJB2 GJB6 GSDME KCNQ4
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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