MCID: NNS007
MIFTS: 46

Nonsyndromic Deafness

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare 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 12 25 29 6
Nonsyndromic Hearing Loss and Deafness 25 29 6
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, is related to autosomal recessive nonsyndromic deafness and autosomal dominant nonsyndromic deafness. An important gene associated with Nonsyndromic Deafness is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways is Cytoskeleton remodeling_RalB regulation pathway. 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 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 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 Deafness, Autosomal Recessive 110
Deafness, Autosomal Dominant 74 Deafness, Autosomal Recessive 111
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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 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 190)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive nonsyndromic deafness 34.2 GIPC3 GJB2 MYO15A OTOF OTOG TMC1
2 autosomal dominant nonsyndromic deafness 34.0 COCH COL11A2 GJB2 GSDME KCNQ4 MYH9
3 autosomal recessive nonsyndromic deafness 3 33.9 GJB2 MYH9 MYO15A MYO6 OTOF PJVK
4 deafness, autosomal dominant 9 33.3 COCH GSDME STRC
5 deafness, autosomal recessive 21 33.1 GJB2 OTOG TECTA
6 deafness, autosomal dominant 2a 33.1 COCH GJB2 KCNQ4 TMPRSS3
7 deafness, autosomal recessive 8 33.1 STRC TMPRSS3
8 deafness, autosomal recessive 30 33.1 GJB2 MYH9 MYO15A MYO6 TMC1
9 deafness, autosomal dominant 12 33.1 COL11A2 GSDME OTOG TECTA
10 deafness, autosomal recessive 37 33.1 MYH9 MYO15A MYO6 TRIOBP
11 deafness, autosomal dominant 22 33.1 COCH MYH9 MYO15A MYO6
12 deafness, autosomal recessive 49 33.1 GJB2 MARVELD2 POU3F4
13 deafness, autosomal recessive 18b 33.0 OTOG TECTA
14 deafness, autosomal recessive 2 33.0 GJB2 MYO15A MYO6 OTOF TECTA
15 deafness, autosomal recessive 16 33.0 COCH COL11A2 GJB2 OTOF STRC TMPRSS3
16 deafness, autosomal recessive 9 33.0 GJB2 OTOF PJVK TECTA
17 deafness, autosomal recessive 85 33.0 MYO15A OTOF PJVK TMPRSS3
18 deafness, autosomal recessive 28 33.0 GJB2 TRIOBP
19 deafness, autosomal recessive 83 33.0 MYO15A OTOF PJVK TMPRSS3
20 deafness, autosomal recessive 26 33.0 GJB2 OTOF TECTA
21 deafness, autosomal dominant 48 33.0 MYH9 MYO15A MYO6
22 deafness, autosomal recessive 59 33.0 GJB2 OTOF PJVK
23 deafness, autosomal recessive 67 33.0 COL11A2 GJB2 PJVK
24 deafness, autosomal dominant 17 33.0 GSDME MYH9 MYO15A MYO6
25 deafness, autosomal dominant 13 33.0 COCH COL11A2 GJB2 GSDME OTOF OTOG
26 deafness, autosomal dominant 11 33.0 GSDME MYO15A MYO6
27 deafness, autosomal dominant 6 33.0 COCH COL11A2 GJB2 GSDME OTOF STRC
28 deafness, autosomal recessive 7 33.0 GJB2 TMC1
29 deafness, autosomal dominant 36 33.0 GJB2 TMC1
30 deafness, autosomal recessive 66 32.9 COL11A2 DCDC2
31 deafness, autosomal recessive 1a 32.8 GJB2 OTOF
32 deafness, x-linked 2 32.4 GJB2 POU3F4
33 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 32.2 COCH GJB2 OTOF
34 auditory neuropathy, autosomal dominant, 1 32.0 GJB2 OTOF PJVK
35 dfnb1 30.6 GJB2 OTOF
36 auditory neuropathy spectrum disorder 30.4 OTOF PJVK
37 sensorineural hearing loss 30.3 COCH COL11A2 GIPC3 GJB2 GSDME KCNQ4
38 dfna2 nonsyndromic hearing loss 12.5
39 dfnx1 nonsyndromic hearing loss and deafness 12.4
40 nonsyndromic hearing loss and deafness, dfna3 12.4
41 nonsyndromic hearing loss and deafness, dfnb1 12.4
42 nonsyndromic hearing loss and deafness, mitochondrial 12.4
43 x-linked nonsyndromic deafness 12.4
44 autosomal recessive nonsyndromic deafness 32 12.3
45 autosomal recessive nonsyndromic deafness 36 12.3
46 autosomal recessive nonsyndromic deafness 86 12.3
47 autosomal recessive nonsyndromic deafness 105 12.2
48 deafness, nonsyndromic sensorineural, mitochondrial 12.1
49 autosomal recessive nonsyndromic deafness 106 12.0
50 autosomal recessive nonsyndromic deafness 107 12.0

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 9.93 DCDC2 GIPC3 MARVELD2 MYO15A MYO6 OTOF
2 hearing/vestibular/ear MP:0005377 9.93 COCH COL11A2 GIPC3 GJB2 GSDME KCNQ4
3 nervous system MP:0003631 9.58 DCDC2 GIPC3 GJB2 GSDME KCNQ4 MARVELD2

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 138)
# 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
Aminoglycoside-associated nonsyndromic deafness and speech disorder in mitochondrial A1555G mutation in a family: A case report. ( 30335006 )
2018
3
A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators. ( 30556268 )
2018
4
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37. ( 30245514 )
2018
5
Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia. ( 30344259 )
2018
6
The p.P240L variant of CDH23 and the risk of nonsyndromic hearing loss: a meta-analysis. ( 30367262 )
2018
7
Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss. ( 30413759 )
2018
8
Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss. ( 30123251 )
2018
9
Update of spectrum c.35delG and c.-23+1G>A mutations on the GJB2 gene in individuals with autosomal recessive nonsyndromic hearing loss. ( 30175840 )
2018
10
Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique. ( 29692870 )
2018
11
Familial nonsyndromic hearing loss with incomplete partition type II caused by novel DSPP gene mutations. ( 29741433 )
2018
12
Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss. ( 29849560 )
2018
13
A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss. ( 29860631 )
2018
14
A novel variant in MITF in a child from Yunnan-Guizhou Plateau with autosomal dominant inheritance of nonsyndromic hearing loss: A case report. ( 29484430 )
2018
15
Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss. ( 29575629 )
2018
16
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
17
A Novel Frameshift Mutation of SLC26A4 in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct. ( 27384033 )
2017
18
A novel missense mutation in the SLC26A4 gene causes nonsyndromic hearing loss and enlarged vestibular aqueduct. ( 28576516 )
2017
19
Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population. ( 29773520 )
2017
20
A novel compound heterozygous mutation of SLC26A4 in two Chinese families with nonsyndromic hearing loss and enlarged vestibular aqueducts. ( 28990112 )
2017
21
NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy. ( 28847925 )
2017
22
Rapid and Reliable Detection of Nonsyndromic Hearing Loss Mutations by Multicolor Melting Curve Analysis. ( 28225033 )
2017
23
A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations. ( 28541280 )
2017
24
Late onset nonsyndromic hearing loss in a Dongxiang Chinese family is associated with the 593T>C variant in the mitochondrial tRNAPhe gene. ( 28579530 )
2017
25
Efficiency of microarray and SNPscan for the detection of hearing loss gene in 71 cases with nonsyndromic hearing loss. ( 28640090 )
2017
26
A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9. ( 26631968 )
2016
27
CORRIGENDUM: Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. ( 27494218 )
2016
28
Genetic Epidemiology of Mitochondrial Pathogenic Variants Causing Nonsyndromic Hearing Loss in a Large Cohort of South Indian Hearing Impaired Individuals. ( 27530448 )
2016
29
Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population. ( 27621663 )
2016
30
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. ( 26226137 )
2015
31
Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells. ( 26173970 )
2015
32
Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family. ( 26196677 )
2015
33
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. ( 25807530 )
2015
34
Common molecular etiology of nonsyndromic hearing loss in 484 patients of 3 ethnicities in northwest China. ( 25761933 )
2015
35
Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan. ( 25788563 )
2015
36
Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: massively parallel DNA sequencing-based analysis. ( 25792667 )
2015
37
Screening of connexin 26 in nonsyndromic hearing loss. ( 25992148 )
2015
38
The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations. ( 26186295 )
2015
39
Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population. ( 26264712 )
2015
40
Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families. ( 26440088 )
2015
41
Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss. ( 26561413 )
2015
42
Autosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP Gene. ( 27014650 )
2015
43
A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family. ( 27081546 )
2015
44
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
45
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
46
Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86. ( 24387994 )
2014
47
A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss. ( 24586623 )
2014
48
Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss. ( 25062256 )
2014
49
A rapid method for simultaneous multi-gene mutation screening in children with nonsyndromic hearing loss. ( 25149764 )
2014
50
Investigation of the A1555G mutation in mitochondrial DNA (MT-RNR1) in groups of Brazilian individuals with nonsyndromic deafness and normal-hearing. ( 23901193 )
2013

Variations for Nonsyndromic Deafness

ClinVar genetic disease variations for Nonsyndromic Deafness:

6 (show top 50) (show all 611)
# 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 Pathogenic rs28937588 GRCh37 Chromosome 1, 41285565: 41285565
24 KCNQ4 NM_004700.3(KCNQ4): c.853G> A (p.Gly285Ser) single nucleotide variant 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.355G> A (p.Ala119Thr) single nucleotide variant Uncertain significance rs121908931 GRCh37 Chromosome 14, 31348132: 31348132
30 COCH NM_004086.2(COCH): c.355G> A (p.Ala119Thr) single nucleotide variant Uncertain significance rs121908931 GRCh38 Chromosome 14, 30878926: 30878926
31 COCH NM_004086.2(COCH): c.1625G> T (p.Cys542Phe) single nucleotide variant Pathogenic rs121908932 GRCh37 Chromosome 14, 31358969: 31358969
32 COCH NM_004086.2(COCH): c.1625G> T (p.Cys542Phe) single nucleotide variant Pathogenic rs121908932 GRCh38 Chromosome 14, 30889763: 30889763
33 MYO6 NM_004999.3(MYO6): c.737A> G (p.His246Arg) single nucleotide variant Likely pathogenic rs121912560 GRCh37 Chromosome 6, 76551016: 76551016
34 MYO6 NM_004999.3(MYO6): c.737A> G (p.His246Arg) single nucleotide variant Likely pathogenic rs121912560 GRCh38 Chromosome 6, 75841299: 75841299
35 MYO6 NM_004999.3(MYO6): c.2545C> T (p.Arg849Ter) single nucleotide variant Pathogenic rs121912561 GRCh37 Chromosome 6, 76596598: 76596598
36 MYO6 NM_004999.3(MYO6): c.2545C> T (p.Arg849Ter) single nucleotide variant Pathogenic rs121912561 GRCh38 Chromosome 6, 75886881: 75886881
37 GJB2 NM_004004.5(GJB2): c.101T> C (p.Met34Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs35887622 GRCh37 Chromosome 13, 20763620: 20763620
38 GJB2 NM_004004.5(GJB2): c.101T> C (p.Met34Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs35887622 GRCh38 Chromosome 13, 20189481: 20189481
39 GJB2 NM_004004.5(GJB2): c.231G> A (p.Trp77Ter) single nucleotide variant Pathogenic rs80338944 GRCh37 Chromosome 13, 20763490: 20763490
40 GJB2 NM_004004.5(GJB2): c.231G> A (p.Trp77Ter) single nucleotide variant Pathogenic rs80338944 GRCh38 Chromosome 13, 20189351: 20189351
41 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh37 Chromosome 13, 20763650: 20763650
42 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh38 Chromosome 13, 20189511: 20189511
43 GJB2 NM_004004.5(GJB2): c.229T> C (p.Trp77Arg) single nucleotide variant Pathogenic rs104894397 GRCh37 Chromosome 13, 20763492: 20763492
44 GJB2 NM_004004.5(GJB2): c.229T> C (p.Trp77Arg) single nucleotide variant Pathogenic rs104894397 GRCh38 Chromosome 13, 20189353: 20189353
45 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
46 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh38 Chromosome 13, 20189547: 20189547
47 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
48 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh38 Chromosome 13, 20189443: 20189443
49 GJB2 NM_004004.5(GJB2): c.358_360delGAG (p.Glu120del) deletion Pathogenic rs80338947 GRCh37 Chromosome 13, 20763361: 20763363
50 GJB2 NM_004004.5(GJB2): c.358_360delGAG (p.Glu120del) deletion Pathogenic rs80338947 GRCh38 Chromosome 13, 20189222: 20189224

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 9.95 MYH9 MYO15A 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 stereocilium tip GO:0032426 9.16 STRC TMC1
2 kinocilium GO:0060091 8.96 DCDC2 STRC
3 myosin complex GO:0016459 8.8 MYH9 MYO15A MYO6

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 GSDME KCNQ4
2 actin filament-based movement GO:0030048 9.26 MYH9 MYO6
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 motor activity GO:0003774 9.13 MYH9 MYO15A MYO6
2 calmodulin binding GO:0005516 8.92 KCNQ4 MYH9 MYO15A MYO6

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
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....