MCID: NNS007
MIFTS: 44

Nonsyndromic Deafness

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

Aliases & Classifications for Nonsyndromic Deafness

MalaCards integrated aliases for Nonsyndromic Deafness:

Name: Nonsyndromic Deafness 12 76 25 29 6 15 73
Nonsyndromic Hearing Loss and Deafness 25 29 6
Nonsyndromic Hearing Loss 12 25 29
Deafness, Nonsyndromic 13 40
Nonsyndromic Hereditary Hearing Loss 12
Nonsyndromic Hearing Impairment 25
Isolated Deafness 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0050563
UMLS 73 C3711374

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 and deafness, is related to autosomal recessive nonsyndromic deafness and autosomal recessive nonsyndromic deafness 3. An important gene associated with Nonsyndromic Deafness is GJB2 (Gap Junction Protein Beta 2). 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 : 76 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 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 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 106 Autosomal Recessive Nonsyndromic Deafness 107
Autosomal Recessive Nonsyndromic Deafness 108 Autosomal Dominant Nonsyndromic Deafness 71
Autosomal Dominant Nonsyndromic Deafness 72 Autosomal Dominant Nonsyndromic Deafness 73
Autosomal Dominant Nonsyndromic Deafness 34 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 36 Autosomal Recessive Nonsyndromic Deafness 86
Otof-Related Deafness

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

(show top 50) (show all 180)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive nonsyndromic deafness 35.3 GIPC3 GJB2 MYO15A OTOF TMC1 TMPRSS3
2 autosomal recessive nonsyndromic deafness 3 34.9 GJB2 MYH9 MYO15A OTOF PJVK TECTA
3 autosomal dominant nonsyndromic deafness 34.8 COCH COL11A2 GJB2 KCNQ4 MYH9 OTOF
4 deafness, autosomal recessive 30 34.3 GJB2 MYH9 MYO15A TMC1
5 deafness, autosomal recessive 37 34.2 MYH9 MYO15A TRIOBP
6 deafness, autosomal dominant 22 34.2 COCH MYH9 MYO15A
7 deafness, autosomal recessive 49 34.2 GJB2 MARVELD2 POU3F4
8 deafness, autosomal dominant 9 34.2 COCH STRC
9 deafness, autosomal recessive 28 34.2 GJB2 TRIOBP
10 deafness, autosomal recessive 21 34.2 GJB2 TECTA
11 deafness, autosomal recessive 2 34.1 GJB2 MYO15A OTOF TECTA
12 deafness, autosomal dominant 2a 34.1 COCH GJB2 KCNQ4 TMPRSS3 WFS1
13 deafness, autosomal recessive 26 34.1 GJB2 OTOF TECTA
14 deafness, autosomal recessive 67 34.1 COL11A2 GJB2 PJVK
15 deafness, autosomal recessive 7 34.0 GJB2 TMC1
16 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 34.0 COCH GJB2 OTOF WFS1
17 deafness, autosomal recessive 59 34.0 GJB2 OTOF PJVK
18 deafness, autosomal recessive 9 34.0 GJB2 OTOF PJVK TECTA
19 deafness, autosomal dominant 12 33.9 COL11A2 TECTA
20 deafness, autosomal recessive 85 33.9 MYO15A OTOA OTOF PJVK TMPRSS3
21 deafness, autosomal recessive 83 33.9 MYO15A OTOA OTOF PJVK TMPRSS3
22 deafness, autosomal recessive 66 33.9 COL11A2 DCDC2
23 deafness, autosomal recessive 16 33.8 COCH COL11A2 GJB2 OTOF STRC TMPRSS3
24 deafness, autosomal dominant 6 33.8 COCH COL11A2 GJB2 OTOF STRC TMPRSS3
25 deafness, autosomal dominant 36 33.8 GJB2 TMC1
26 deafness, autosomal dominant 13 33.8 COCH COL11A2 GJB2 OTOF STRC TMPRSS3
27 deafness, autosomal recessive 77 33.8 LOXHD1 PJVK
28 deafness, autosomal recessive 8 33.8 STRC TMPRSS3
29 deafness, autosomal dominant 48 33.7 MYH9 MYO15A
30 deafness, autosomal recessive 1a 33.5 GJB2 OTOF
31 deafness, x-linked 2 33.5 GJB2 POU3F4
32 deafness, autosomal dominant 17 33.4 MYH9 MYO15A
33 auditory neuropathy, autosomal dominant, 1 33.0 GJB2 OTOF PJVK
34 dfnb1 31.6 GJB2 OTOF
35 sensorineural hearing loss 31.1 COCH GIPC3 GJB2 KCNQ4 MYH9 MYO15A
36 dfna2 nonsyndromic hearing loss 12.3
37 dfnx1 nonsyndromic hearing loss and deafness 12.3
38 nonsyndromic hearing loss and deafness, dfna3 12.3
39 nonsyndromic hearing loss and deafness, dfnb1 12.3
40 nonsyndromic hearing loss and deafness, mitochondrial 12.3
41 x-linked nonsyndromic deafness 12.2
42 autosomal recessive nonsyndromic deafness 36 12.1
43 autosomal recessive nonsyndromic deafness 86 12.1
44 deafness, nonsyndromic sensorineural, mitochondrial 12.0
45 autosomal recessive nonsyndromic deafness 106 11.9
46 autosomal recessive nonsyndromic deafness 107 11.9
47 autosomal recessive nonsyndromic deafness 108 11.9
48 autosomal dominant nonsyndromic deafness 71 11.9
49 autosomal dominant nonsyndromic deafness 72 11.9
50 autosomal dominant nonsyndromic deafness 73 11.9

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 DCDC2 GIPC3 MARVELD2 MYO15A OTOF PJVK
2 hearing/vestibular/ear MP:0005377 9.89 TMPRSS3 TRIOBP COCH COL11A2 GIPC3 GJB2
3 nervous system MP:0003631 9.53 DCDC2 GIPC3 GJB2 KCNQ4 MARVELD2 MYH9

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 29
2 Nonsyndromic Deafness 29
3 Nonsyndromic Hearing Loss 29

Anatomical Context for Nonsyndromic Deafness

Publications for Nonsyndromic Deafness

Articles related to Nonsyndromic Deafness:

(show top 50) (show all 73)
# Title Authors Year
1
A Novel p.G141R Mutation in <i>ILDR1</i> Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families. ( 29849566 )
2018
2
Different Phenotypes of the Two Chinese Probands with the Same c.889G&amp;gt;A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9. ( 28099493 )
2017
3
A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9. ( 26631968 )
2016
4
CORRIGENDUM: Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. ( 27494218 )
2016
5
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. ( 26226137 )
2015
6
Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells. ( 26173970 )
2015
7
Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family. ( 26196677 )
2015
8
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. ( 25807530 )
2015
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
Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86. ( 24387994 )
2014
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
Genetic mutations in nonsyndromic deafness patients of Chinese minority and han ethnicities in Yunnan, China. ( 24341454 )
2013
14
Autosomal recessive nonsyndromic deafness genes: a review. ( 22652773 )
2012
15
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. ( 23023331 )
2012
16
[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
17
Mitochondrial DNA mutation screening in an ethnically diverse nonsyndromic deafness cohort. ( 22853457 )
2012
18
Taperin (c9orf75), a mutated gene in nonsyndromic deafness, encodes a vertebrate specific, nuclear localized protein phosphatase one alpha (PP1I+) docking protein. ( 23213405 )
2012
19
Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey. ( 21117948 )
2011
20
Deleterious mutation in GPSM2 identified as cause for nonsyndromic deafness. ( 21029073 )
2011
21
Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness. ( 20563649 )
2011
22
DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3. ( 19603065 )
2010
23
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. ( 20170899 )
2010
24
Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness. ( 19645626 )
2009
25
A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells. ( 19270079 )
2009
26
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
27
Function and expression pattern of nonsyndromic deafness genes. ( 19601806 )
2009
28
Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy. ( 19728075 )
2009
29
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. ( 19646679 )
2009
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
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. ( 18181211 )
2008
32
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. ( 18953341 )
2008
33
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. ( 18719945 )
2008
34
Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. ( 17066295 )
2007
35
[GJB6 gene mutation analysis in Chinese nonsyndromic deaf population]. ( 17438853 )
2007
36
A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness. ( 17473676 )
2007
37
Vestibular system in infants with hereditary nonsyndromic deafness. ( 17898670 )
2007
38
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. ( 17690910 )
2007
39
Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan. ( 17259707 )
2007
40
Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan. ( 17033161 )
2007
41
A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness. ( 16941638 )
2006
42
A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12. ( 16158433 )
2005
43
Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness. ( 16365218 )
2005
44
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1. ( 15538632 )
2005
45
Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree. ( 15605408 )
2005
46
Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31. ( 15637723 )
2005
47
Sequence analysis of the mitochondrial genome from a large family with maternally inherited nonsyndromic deafness. ( 16086269 )
2005
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
Maternal origin of a de novo mutation of the connexin 26 gene resulting in recessive nonsyndromic deafness. ( 14735592 )
2004

Variations for Nonsyndromic Deafness

ClinVar genetic disease variations for Nonsyndromic Deafness:

6
(show top 50) (show all 559)
# Gene Variation Type Significance SNP ID Assembly Location
1 LRTOMT NM_001145308.4(LRTOMT): c.242G> A (p.Arg81Gln) single nucleotide variant Likely pathogenic rs137853185 GRCh37 Chromosome 11, 71817140: 71817140
2 LRTOMT NM_001145308.4(LRTOMT): c.242G> A (p.Arg81Gln) single nucleotide variant Likely pathogenic rs137853185 GRCh38 Chromosome 11, 72106094: 72106094
3 MARVELD2 NM_001038603.2(MARVELD2): c.1498C> T (p.Arg500Ter) single nucleotide variant Pathogenic rs118203957 GRCh37 Chromosome 5, 68728915: 68728915
4 MARVELD2 NM_001038603.2(MARVELD2): c.1498C> T (p.Arg500Ter) single nucleotide variant Pathogenic rs118203957 GRCh38 Chromosome 5, 69433088: 69433088
5 PJVK NM_001042702.3(PJVK): c.499C> T (p.Arg167Ter) single nucleotide variant Pathogenic rs118203989 GRCh37 Chromosome 2, 179320828: 179320828
6 PJVK NM_001042702.3(PJVK): c.499C> T (p.Arg167Ter) single nucleotide variant Pathogenic rs118203989 GRCh38 Chromosome 2, 178456101: 178456101
7 TMC1 NM_138691.2(TMC1): c.1714G> A (p.Asp572Asn) single nucleotide variant Pathogenic rs121908072 GRCh37 Chromosome 9, 75431077: 75431077
8 TMC1 NM_138691.2(TMC1): c.1714G> A (p.Asp572Asn) single nucleotide variant Pathogenic rs121908072 GRCh38 Chromosome 9, 72816161: 72816161
9 TMC1 NM_138691.2(TMC1): c.100C> T (p.Arg34Ter) single nucleotide variant Pathogenic rs121908073 GRCh37 Chromosome 9, 75309494: 75309494
10 TMC1 NM_138691.2(TMC1): c.100C> T (p.Arg34Ter) single nucleotide variant Pathogenic rs121908073 GRCh38 Chromosome 9, 72694578: 72694578
11 WFS1 NM_006005.3(WFS1): c.2146G> A (p.Ala716Thr) single nucleotide variant Pathogenic/Likely pathogenic rs28937893 GRCh37 Chromosome 4, 6303668: 6303668
12 WFS1 NM_006005.3(WFS1): c.2146G> A (p.Ala716Thr) single nucleotide variant Pathogenic/Likely pathogenic rs28937893 GRCh38 Chromosome 4, 6301941: 6301941
13 WFS1 NM_006005.3(WFS1): c.2590G> A (p.Glu864Lys) single nucleotide variant Pathogenic/Likely pathogenic rs74315205 GRCh37 Chromosome 4, 6304112: 6304112
14 WFS1 NM_006005.3(WFS1): c.2590G> A (p.Glu864Lys) single nucleotide variant Pathogenic/Likely pathogenic rs74315205 GRCh38 Chromosome 4, 6302385: 6302385
15 PCDH15 NM_033056.3(PCDH15): c.400C> G (p.Arg134Gly) single nucleotide variant Likely pathogenic rs137853003 GRCh37 Chromosome 10, 56128954: 56128954
16 PCDH15 NM_033056.3(PCDH15): c.400C> G (p.Arg134Gly) single nucleotide variant Likely pathogenic rs137853003 GRCh38 Chromosome 10, 54369194: 54369194
17 OTOF NM_194248.2(OTOF): c.4491T> A (p.Tyr1497Ter) single nucleotide variant Pathogenic rs80356600 GRCh37 Chromosome 2, 26689591: 26689591
18 OTOF NM_194248.2(OTOF): c.4491T> A (p.Tyr1497Ter) single nucleotide variant Pathogenic rs80356600 GRCh38 Chromosome 2, 26466723: 26466723
19 OTOF NM_194248.2(OTOF): c.2485C> T (p.Gln829Ter) single nucleotide variant Pathogenic rs80356593 GRCh37 Chromosome 2, 26700078: 26700078
20 OTOF NM_194248.2(OTOF): c.2485C> T (p.Gln829Ter) single nucleotide variant Pathogenic rs80356593 GRCh38 Chromosome 2, 26477210: 26477210
21 OTOF NM_194248.2(OTOF): c.1544T> C (p.Ile515Thr) single nucleotide variant Likely pathogenic rs80356586 GRCh37 Chromosome 2, 26705309: 26705309
22 OTOF NM_194248.2(OTOF): c.1544T> C (p.Ile515Thr) single nucleotide variant Likely pathogenic rs80356586 GRCh38 Chromosome 2, 26482441: 26482441
23 KCNQ4 NM_004700.3(KCNQ4): c.853G> A (p.Gly285Ser) single nucleotide variant Likely pathogenic rs28937588 GRCh37 Chromosome 1, 41285565: 41285565
24 KCNQ4 NM_004700.3(KCNQ4): c.853G> A (p.Gly285Ser) single nucleotide variant Likely pathogenic rs28937588 GRCh38 Chromosome 1, 40819893: 40819893
25 KCNQ4 NM_004700.3(KCNQ4): c.827G> C (p.Trp276Ser) single nucleotide variant Pathogenic rs80358277 GRCh37 Chromosome 1, 41285137: 41285137
26 KCNQ4 NM_004700.3(KCNQ4): c.827G> C (p.Trp276Ser) single nucleotide variant Pathogenic rs80358277 GRCh38 Chromosome 1, 40819465: 40819465
27 COCH NM_004086.2(COCH): c.151C> T (p.Pro51Ser) single nucleotide variant Pathogenic rs28938175 GRCh37 Chromosome 14, 31346846: 31346846
28 COCH NM_004086.2(COCH): c.151C> T (p.Pro51Ser) single nucleotide variant Pathogenic rs28938175 GRCh38 Chromosome 14, 30877640: 30877640
29 COCH NM_004086.2(COCH): c.1625G> T (p.Cys542Phe) single nucleotide variant Pathogenic rs121908932 GRCh37 Chromosome 14, 31358969: 31358969
30 COCH NM_004086.2(COCH): c.1625G> T (p.Cys542Phe) single nucleotide variant Pathogenic rs121908932 GRCh38 Chromosome 14, 30889763: 30889763
31 MYO6 NM_004999.3(MYO6): c.737A> G (p.His246Arg) single nucleotide variant Likely pathogenic rs121912560 GRCh37 Chromosome 6, 76551016: 76551016
32 MYO6 NM_004999.3(MYO6): c.737A> G (p.His246Arg) single nucleotide variant Likely pathogenic rs121912560 GRCh38 Chromosome 6, 75841299: 75841299
33 MYO6 NM_004999.3(MYO6): c.2545C> T (p.Arg849Ter) single nucleotide variant Pathogenic rs121912561 GRCh37 Chromosome 6, 76596598: 76596598
34 MYO6 NM_004999.3(MYO6): c.2545C> T (p.Arg849Ter) single nucleotide variant Pathogenic rs121912561 GRCh38 Chromosome 6, 75886881: 75886881
35 GJB2 NM_004004.5(GJB2): c.231G> A (p.Trp77Ter) single nucleotide variant Pathogenic rs80338944 GRCh37 Chromosome 13, 20763490: 20763490
36 GJB2 NM_004004.5(GJB2): c.231G> A (p.Trp77Ter) single nucleotide variant Pathogenic rs80338944 GRCh38 Chromosome 13, 20189351: 20189351
37 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh37 Chromosome 13, 20763650: 20763650
38 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh38 Chromosome 13, 20189511: 20189511
39 GJB2 NM_004004.5(GJB2): c.229T> C (p.Trp77Arg) single nucleotide variant Pathogenic rs104894397 GRCh37 Chromosome 13, 20763492: 20763492
40 GJB2 NM_004004.5(GJB2): c.229T> C (p.Trp77Arg) single nucleotide variant Pathogenic rs104894397 GRCh38 Chromosome 13, 20189353: 20189353
41 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
42 GJB2 NM_004004.5(GJB2): c.551G> C (p.Arg184Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338950 GRCh37 Chromosome 13, 20763170: 20763170
43 GJB2 NM_004004.5(GJB2): c.551G> C (p.Arg184Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338950 GRCh38 Chromosome 13, 20189031: 20189031
44 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh38 Chromosome 13, 20189547: 20189547
45 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
46 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh38 Chromosome 13, 20189443: 20189443
47 GJB2 NM_004004.5(GJB2): c.358_360delGAG (p.Glu120del) deletion Pathogenic rs80338947 GRCh37 Chromosome 13, 20763361: 20763363
48 GJB2 NM_004004.5(GJB2): c.358_360delGAG (p.Glu120del) deletion Pathogenic rs80338947 GRCh38 Chromosome 13, 20189222: 20189224
49 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh37 Chromosome 13, 20763294: 20763294
50 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh38 Chromosome 13, 20189155: 20189155

Expression for Nonsyndromic Deafness

Search GEO for disease gene expression data for Nonsyndromic Deafness.

Pathways for Nonsyndromic Deafness

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 stereocilium tip GO:0032426 9.16 STRC TMC1
2 kinocilium GO:0060091 8.96 DCDC2 STRC
3 stereocilium GO:0032420 8.92 LOXHD1 MYO15A STRC TRIOBP

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 DCDC2 GJB2 KCNQ4 LOXHD1
2 cell-matrix adhesion GO:0007160 9.43 OTOA STRC TECTA
3 auditory receptor cell stereocilium organization GO:0060088 9.16 STRC TRIOBP
4 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 8.96 STRC TMC1

Molecular functions related to Nonsyndromic Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 8.92 KCNQ4 MYH9 MYO15A WFS1

Sources for Nonsyndromic Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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