MCID: NNS072
MIFTS: 41

Nonsyndromic Hearing Loss

Categories: Ear diseases, Neuronal diseases

Aliases & Classifications for Nonsyndromic Hearing Loss

MalaCards integrated aliases for Nonsyndromic Hearing Loss:

Name: Nonsyndromic Hearing Loss 25 29 6
Nonsyndromic Hearing Loss and Deafness 25 29 6
Nonsyndromic Hearing Impairment 25
Nonsyndromic Deafness 25
Isolated Deafness 25

Classifications:



Summaries for Nonsyndromic Hearing Loss

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. Nonsyndromic hearing loss can be classified in several different ways. One common way is by the condition's pattern of inheritance: autosomal dominant (DFNA), autosomal recessive (DFNB), X-linked (DFNX), or mitochondrial (which does not have a special designation). Each of these types of hearing loss includes multiple subtypes. DFNA, DFNB, and DFNX subtypes are numbered in the order in which they were first described. For example, DFNA1 was the first type of autosomal dominant nonsyndromic hearing loss to be identified. The characteristics of nonsyndromic hearing loss vary among the different types. Hearing loss can affect one ear (unilateral) or both ears (bilateral). Degrees of hearing loss range from mild (difficulty understanding soft speech) to profound (inability to hear even very loud noises). The term "deafness" is often used to describe severe-to-profound hearing loss. Hearing loss can be stable, or it may be progressive, becoming more severe as a person gets older. Particular types of nonsyndromic hearing loss show distinctive patterns of hearing loss. For example, the loss may be more pronounced at high, middle, or low tones. Most forms of nonsyndromic hearing loss are described as sensorineural, which means they are associated with a permanent loss of hearing caused by damage to structures in the inner ear. The inner ear processes sound and sends the information to the brain in the form of electrical nerve impulses. Less commonly, nonsyndromic hearing loss is described as conductive, meaning it results from changes in the middle ear. The middle ear contains three tiny bones that help transfer sound from the eardrum to the inner ear. Some forms of nonsyndromic hearing loss, particularly a type called DFNX2, involve changes in both the inner ear and the middle ear. This combination is called mixed hearing loss. Depending on the type, nonsyndromic hearing loss can become apparent at any time from infancy to old age. Hearing loss that is present before a child learns to speak is classified as prelingual or congenital. Hearing loss that occurs after the development of speech is classified as postlingual.

MalaCards based summary : Nonsyndromic Hearing Loss, also known as nonsyndromic hearing loss and deafness, is related to nonsyndromic hearing loss and deafness, dfnb1 and nonsyndromic hearing loss and deafness, dfna3. An important gene associated with Nonsyndromic Hearing Loss is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are Gap junction trafficking and Cytoskeleton remodeling_RalA regulation pathway. Affiliated tissues include bone, brain and testes, and related phenotypes are behavior/neurological and hearing/vestibular/ear

Related Diseases for Nonsyndromic Hearing Loss

Diseases in the Nonsyndromic Hearing Loss family:

Age-Related Hearing Loss

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

(show top 50) (show all 333)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic hearing loss and deafness, dfnb1 34.8 GJB6 GJB3 GJB2
2 nonsyndromic hearing loss and deafness, dfna3 34.8 GJB6 GJB2
3 x-linked nonsyndromic deafness 34.5 TECTA GJB6 GJB3 GJB2
4 deafness, autosomal recessive 18a 33.8 PCDH15 MYO15A CDH23
5 autosomal recessive nonsyndromic deafness 36 33.8 TRIOBP PCDH15 MYO3A CDH23
6 deafness, autosomal recessive 23 33.8 PCDH15 MYO15A CDH23
7 deafness, autosomal recessive 86 33.6 PCDH15 CDH23
8 deafness, autosomal recessive 49 33.6 MYO15A GJB2
9 deafness, autosomal recessive 9 33.5 TECTA MYO15A GJB2
10 deafness, autosomal dominant 7 33.5 TECTA MYO6
11 deafness, autosomal recessive 83 33.5 MYO15A LHFPL5 CDH23
12 deafness, autosomal dominant 31 33.5 TECTA MYO3A
13 deafness, autosomal recessive 63 33.5 TMIE MYO15A
14 deafness, autosomal dominant 43 33.5 MYO6 COCH
15 deafness, autosomal recessive 62 33.4 MYO6 CDH23
16 deafness, autosomal recessive 5 33.4 TMIE COCH
17 deafness, autosomal dominant 27 33.4 TMIE MYO15A
18 deafness, autosomal recessive 91 33.3 TECTA GJB3 GJB2 COCH
19 deafness, autosomal dominant 18 33.3 KCNQ4 COCH
20 deafness, autosomal dominant 49 33.1 USH2A TECTA
21 deafness, autosomal dominant 6 33.1 TECTA KCNQ4 GJB2 COCH CDH23
22 deafness, autosomal dominant 28 33.1 KCNQ4 COCH
23 deafness, autosomal dominant 25 33.0 KCNQ4 COCH CEACAM16
24 deafness, autosomal recessive 93 33.0 TRIOBP GJB2
25 deafness, x-linked 2 33.0 TMIE GJB6 GJB3 GJB2 COCH
26 deafness, autosomal recessive 6 32.9 TRIOBP TMIE LHFPL5
27 deafness, autosomal dominant 64 32.9 KCNQ4 GJB2 CEACAM16
28 pendred syndrome 32.9 MYO15A GJB6 GJB2 CDH23
29 deafness, autosomal recessive 35 32.9 TRIOBP TMIE MYO15A
30 deafness, autosomal recessive 61 32.9 TRIOBP TECTA MYO3A
31 deafness, autosomal recessive 1b 32.9 MYO15A GJB6 GJB3 GJB2 CEACAM16
32 deafness, autosomal recessive 25 32.8 TRIOBP MYO15A
33 drug-induced hearing loss 32.5 GJB3 GJB2
34 deafness, autosomal dominant 2b 32.5 TRIOBP KCNQ4 GJB3 GJB2 COCH
35 deafness, autosomal recessive 26 32.4 TECTA GJB2
36 y-linked deafness 32.3 TMIE PCDH15 KCNQ4
37 deafness, autosomal recessive 22 32.1 TRIOBP TMIE TECTA MYO15A CEACAM16 CDH23
38 branchiootic syndrome 1 31.7 USH2A TECTA GJB2 CDH23
39 dfnb1 31.5 PCDH15 GJB6 GJB3 GJB2
40 nonsyndromic deafness 31.3 PCDH15 MYO15A KCNQ4 GJB2
41 palmoplantar keratosis 31.1 GJB6 GJB3 GJB2
42 deafness, autosomal recessive 3 31.0 MYO15A GJB2
43 keratoderma, palmoplantar, with deafness 30.9 GJB6 GJB3 GJB2
44 deafness, autosomal recessive 67 30.9 TMIE PCDH15 LHFPL5
45 deafness, autosomal dominant 3a 30.9 GJB6 GJB3 GJB2 COCH
46 deafness, autosomal recessive 8 30.8 MYO15A GJB2
47 deafness, autosomal recessive 7 30.7 TMIE MYO15A LHFPL5 GJB2 CDH23
48 deafness, autosomal dominant 51 30.7 TJP2 TECTA
49 deafness, autosomal recessive 30 30.7 PCDH15 MYO6 MYO3A MYO15A
50 deafness, autosomal dominant 10 30.6 TECTA MYO6 KCNQ4

Graphical network of the top 20 diseases related to Nonsyndromic Hearing Loss:



Diseases related to Nonsyndromic Hearing Loss

Symptoms & Phenotypes for Nonsyndromic Hearing Loss

MGI Mouse Phenotypes related to Nonsyndromic Hearing Loss:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 CDH23 CEACAM16 GJB6 KARS1 LHFPL5 MYO15A
2 hearing/vestibular/ear MP:0005377 9.89 CDH23 CEACAM16 COCH GJB2 GJB3 GJB6
3 nervous system MP:0003631 9.47 CDH23 GJB2 GJB6 KCNQ4 LHFPL5 MYO15A

Drugs & Therapeutics for Nonsyndromic Hearing Loss

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Analyses of Nonsyndromic and Syndromic Deafness in Pakistan Recruiting NCT00341874

Search NIH Clinical Center for Nonsyndromic Hearing Loss

Genetic Tests for Nonsyndromic Hearing Loss

Genetic tests related to Nonsyndromic Hearing Loss:

# Genetic test Affiliating Genes
1 Nonsyndromic Hearing Loss and Deafness 29
2 Nonsyndromic Hearing Loss 29

Anatomical Context for Nonsyndromic Hearing Loss

MalaCards organs/tissues related to Nonsyndromic Hearing Loss:

40
Bone, Brain, Testes, Eye, Thyroid, Skin

Publications for Nonsyndromic Hearing Loss

Articles related to Nonsyndromic Hearing Loss:

(show top 50) (show all 564)
# Title Authors PMID Year
1
Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss. 61
32279305 2020
2
Positive Selection and Inactivation in the Vision and Hearing Genes of Cetaceans. 61
32170943 2020
3
Etiology of Childhood Bilateral Sensorineural Hearing Loss in Shandong Province, China. 61
32437266 2020
4
A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family. 61
32519820 2020
5
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss. 61
32562050 2020
6
The p.R206C Mutation in MYO7A Leads to Autosomal Dominant Nonsyndromic Hearing Loss. 61
32428919 2020
7
DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot? 61
32486382 2020
8
The Functional Role of CONNEXIN 26 Mutation in Nonsyndromic Hearing Loss, Demonstrated by Zebrafish Connexin 30.3 Homologue Model. 61
32455934 2020
9
A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss. 61
31858762 2020
10
Development and Validation of a Next-Generation Sequencing Panel for Syndromic and Nonsyndromic Hearing Loss. 61
32445360 2020
11
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population. 61
31854501 2020
12
Clinical and genetic study of 12 Chinese Han families with nonsyndromic deafness. 61
32048449 2020
13
Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population. 61
32003480 2020
14
Zebrafish Model for Nonsyndromic X-Linked Sensorineural Deafness, DFNX1. 61
30874365 2020
15
A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families. 61
31827252 2020
16
Novel OTOF pathogenic variant segregating with non-syndromic hearing loss in a consanguineous family from tribal Rajouri in Jammu and Kashmir. 61
31875531 2020
17
Novel Mutations in the TMPRSS3 Gene may Contribute to Taiwanese Patients with Nonsyndromic Hearing Loss. 61
32235586 2020
18
GJB2-related hearing loss in central Iran: Review of the spectrum and frequency of gene mutations. 61
31512227 2020
19
G130V de novo mutation in case with nonsyndromic hearing loss without palmoplantar keratoderma. 61
31785923 2020
20
Mutation Analysis Using Multiplex Ligation-Dependent Probe Amplification in Consanguineous Families in South India with a Child with Profound Hearing Impairment. 61
31150550 2020
21
Investigation of MYO15A and MYO7A Mutations in Iranian Patients with Nonsyndromic Hearing Loss. 61
31997689 2020
22
Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families. 61
32149082 2020
23
Characterization of GJB2 cis-regulatory elements in the DFNB1 locus. 61
31586237 2019
24
Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis. 61
31273342 2019
25
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss. 61
31397523 2019
26
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. 61
31160754 2019
27
G130V de novo mutation in an Iranian pedigree with nonsyndromic hearing loss without palmoplantar keratoderma. 61
31419744 2019
28
A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss. 61
31175426 2019
29
Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation. 61
31226716 2019
30
Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort. 61
31389194 2019
31
The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions. 61
31200317 2019
32
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series. 61
31393079 2019
33
Mice heterozygous for the Cdh23/Ahl1 mutation show age-related deficits in auditory temporal processing. 61
31247458 2019
34
Deletion of OSBPL2 in auditory cells increases cholesterol biosynthesis and drives reactive oxygen species production by inhibiting AMPK activity. 61
31427568 2019
35
Mutations in TOP2B cause autosomal-dominant hereditary hearing loss via inhibition of the PI3K-Akt signalling pathway. 61
31198993 2019
36
A humanized mouse model, demonstrating progressive hearing loss caused by MYO6 p.C442Y, is inherited in a semi-dominant pattern. 61
31103816 2019
37
Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next-generation sequencing. 61
31250571 2019
38
Bi-allelic Pro291Leu variant in KCNQ4 leads to early onset non-syndromic hearing loss. 61
31028865 2019
39
Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China. 61
31035178 2019
40
Mutation spectrum and hotspots of the common deafness genes in 314 patients with nonsyndromic hearing loss in Heze area, China. 61
31107121 2019
41
Detecting novel mutations and combined Klinefelter syndrome in Usher syndrome cases. 61
31035849 2019
42
Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss. 61
31016883 2019
43
Identification of four novel mutations in MYO7A gene and their association with nonsyndromic deafness and Usher Syndrome 1B. 61
30826590 2019
44
Clarification of glycosylphosphatidylinositol anchorage of OTOANCORIN and human OTOA variants associated with deafness. 61
30740825 2019
45
[Analysis of GJB2, SLC26A4, GJB3 and 12S rRNA gene mutations among patients with nonsyndromic hearing loss from eastern Shandong]. 61
31030427 2019
46
Targeted Mutation Analysis of the SLC26A4, MYO6, PJVK and CDH23 Genes in Iranian Patients with AR Nonsyndromic Hearing Loss. 61
30582396 2019
47
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37. 61
30245514 2019
48
Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans. 61
30514912 2019
49
Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency. 61
30872718 2019
50
Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform. 61
30896630 2019

Variations for Nonsyndromic Hearing Loss

ClinVar genetic disease variations for Nonsyndromic Hearing Loss:

6 (show top 50) (show all 63) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TECTA NM_005422.2(TECTA):c.4085G>A (p.Trp1362Ter)SNV Pathogenic 498538 rs199638531 11:121016805-121016805 11:121146096-121146096
2 GJB2 NM_004004.6(GJB2):c.516G>C (p.Trp172Cys)SNV Pathogenic 590799 rs1302739538 13:20763205-20763205 13:20189066-20189066
3 MYO3A NM_017433.5(MYO3A):c.2090T>G (p.Leu697Trp)SNV Pathogenic 617675 rs1564573788 10:26414513-26414513 10:26125584-26125584
4 KCNQ4 NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser)SNV Pathogenic 6241 rs28937588 1:41285565-41285565 1:40819893-40819893
5 COCH NM_004086.3(COCH):c.151C>T (p.Pro51Ser)SNV Pathogenic 6611 rs28938175 14:31346846-31346846 14:30877640-30877640
6 GJB2 NM_004004.6(GJB2):c.101T>C (p.Met34Thr)SNV Pathogenic 17000 rs35887622 13:20763620-20763620 13:20189481-20189481
7 GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)SNV Pathogenic 17002 rs104894396 13:20763650-20763650 13:20189511-20189511
8 GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs)deletion Pathogenic 17004 rs80338939 13:20763686-20763686 13:20189547-20189547
9 GJB2 NM_004004.6(GJB2):c.167del (p.Leu56fs)deletion Pathogenic 17010 rs80338942 13:20763554-20763554 13:20189415-20189415
10 GJB2 NM_004004.6(GJB2):c.235del (p.Leu79fs)deletion Pathogenic 17014 rs80338943 13:20763486-20763486 13:20189347-20189347
11 GJB2 NM_004004.6(GJB2):c.109G>A (p.Val37Ile)SNV Pathogenic 17023 rs72474224 13:20763612-20763612 13:20189473-20189473
12 KARS1 NM_001130089.1(KARS1):c.517T>C (p.Tyr173His)SNV Pathogenic 60752 rs397514745 16:75670401-75670401 16:75636503-75636503
13 TRIOBP NM_001039141.3(TRIOBP):c.6598C>T (p.Arg2200Ter)SNV Pathogenic 165613 rs727503528 22:38165057-38165057 22:37769050-37769050
14 MYO15A NM_016239.4(MYO15A):c.5851del (p.Ser1951fs)deletion Pathogenic 179619 rs727504995 17:18046095-18046095 17:18142781-18142781
15 USH2A NM_206933.3(USH2A):c.9685del (p.Glu3229fs)deletion Pathogenic 236049 rs878853233 1:215987132-215987132 1:215813790-215813790
16 CEACAM16 NM_001039213.4(CEACAM16):c.703C>T (p.Arg235Cys)SNV Pathogenic 236048 rs746164064 19:45208901-45208901 19:44705631-44705631
17 GJB2 NM_004004.6(GJB2):c.2T>C (p.Met1Thr)SNV Likely pathogenic 371781 rs371086981 13:20763719-20763719 13:20189580-20189580
18 KCNQ4 NM_004700.4(KCNQ4):c.803_805CCT[1] (p.Ser269del)short repeat Likely pathogenic 208366 rs797044966 1:41285111-41285113 1:40819439-40819441
19 MYO6 NM_004999.4(MYO6):c.238C>T (p.Arg80Ter)SNV Likely pathogenic 178957 rs727504567 6:76538307-76538307 6:75828590-75828590
20 GJB2 NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)SNV Likely pathogenic 44740 rs104894408 13:20763687-20763687 13:20189548-20189548
21 MYO7A NM_000260.4(MYO7A):c.2558G>A (p.Arg853His)SNV Likely pathogenic 43186 rs111033437 11:76890971-76890971 11:77179925-77179925
22 GJB2 NM_004004.6(GJB2):c.563A>G (p.Lys188Arg)SNV Likely pathogenic 429984 rs1131691709 13:20763158-20763158 13:20189019-20189019
23 CEACAM16 NM_001039213.4(CEACAM16):c.1122dup (p.Ala375fs)duplication Likely pathogenic 804341 19:45211310-45211311 19:44708038-44708039
24 KCNQ4 NM_004700.4(KCNQ4):c.825G>C (p.Trp275Cys)SNV Likely pathogenic 505302 rs956666801 1:41285135-41285135 1:40819463-40819463
25 GJB3 NM_024009.3(GJB3):c.703C>T (p.Arg235Ter)SNV Likely pathogenic 561271 rs144964568 1:35251066-35251066 1:34785465-34785465
26 GJB6 NM_001110219.3(GJB6):c.487del (p.Leu163fs)deletion Likely pathogenic 561265 rs1566538321 13:20797133-20797133 13:20222994-20222994
27 GJB6 NM_001110219.3(GJB6):c.322C>T (p.Arg108Ter)SNV Likely pathogenic 561270 rs772862268 13:20797298-20797298 13:20223159-20223159
28 OTOF NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe)SNV Conflicting interpretations of pathogenicity 48258 rs111033330 2:26684765-26684765 2:26461897-26461897
29 CDH23 NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn)SNV Uncertain significance 422345 rs369501114 10:73565943-73565943 10:71806186-71806186
30 GJB2 NM_004004.6(GJB2):c.107T>C (p.Leu36Pro)SNV Uncertain significance 158604 rs587783644 13:20763614-20763614 13:20189475-20189475
31 CDH23 NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser)SNV Uncertain significance 228500 rs876657756 10:73558147-73558147 10:71798390-71798390
32 GJB2 NM_004004.6(GJB2):c.-22-2A>CSNV Uncertain significance 375406 rs201895089 13:20763744-20763744 13:20189605-20189605
33 GJB2 NM_004004.6(GJB2):c.677T>A (p.Val226Asp)SNV Uncertain significance 585322 rs773846324 13:20763044-20763044 13:20188905-20188905
34 GJB2 NM_004004.6(GJB2):c.653G>A (p.Cys218Tyr)SNV Uncertain significance 585327 rs752812448 13:20763068-20763068 13:20188929-20188929
35 MYO7A NM_000260.4(MYO7A):c.1817G>A (p.Arg606His)SNV Uncertain significance 517357 rs782311929 11:76883813-76883813 11:77172767-77172767
36 GJB2 NM_004004.6(GJB2):c.674C>T (p.Pro225Leu)SNV Uncertain significance 555720 rs1555341782 13:20763047-20763047 13:20188908-20188908
37 CLDN9 NM_020982.4(CLDN9):c.475G>A (p.Glu159Lys)SNV Uncertain significance 869102 16:3063838-3063838 16:3013837-3013837
38 GJB2 NM_004004.6(GJB2):c.677T>G (p.Val226Gly)SNV Uncertain significance 447450 rs773846324 13:20763044-20763044 13:20188905-20188905
39 GJB2 NM_004004.6(GJB2):c.488T>C (p.Met163Thr)SNV Uncertain significance 449488 rs1273330603 13:20763233-20763233 13:20189094-20189094
40 COCH NM_004086.3(COCH):c.355G>A (p.Ala119Thr)SNV Uncertain significance 6613 rs121908931 14:31348132-31348132 14:30878926-30878926
41 GJB2 NM_004004.6(GJB2):c.339T>G (p.Ser113Arg)SNV Uncertain significance 21385 rs80338946 13:20763382-20763382 13:20189243-20189243
42 MYO7A NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)SNV Uncertain significance 43134 rs45629132 11:76870496-76870496 11:77159450-77159450
43 TECTA NM_005422.2(TECTA):c.2061C>G (p.Asn687Lys)SNV Likely benign 45317 rs139165033 11:120998747-120998747 11:121128038-121128038
44 TECTA NM_005422.2(TECTA):c.4004G>A (p.Gly1335Glu)SNV Likely benign 287165 rs148619105 11:121016724-121016724 11:121146015-121146015
45 TECTA NM_005422.2(TECTA):c.5836T>C (p.Tyr1946His)SNV Likely benign 165370 rs144343770 11:121039471-121039471 11:121168762-121168762
46 TECTA NM_005422.2(TECTA):c.3097C>T (p.Arg1033Trp)SNV Likely benign 178538 rs142486386 11:121008285-121008285 11:121137576-121137576
47 TECTA NM_005422.2(TECTA):c.3492C>T (p.Thr1164=)SNV Likely benign 178539 rs144012985 11:121008680-121008680 11:121137971-121137971
48 TECTA NM_005422.2(TECTA):c.487-7C>GSNV Likely benign 229304 rs368627411 11:120983774-120983774 11:121113065-121113065
49 KCNQ4 NM_004700.4(KCNQ4):c.720C>G (p.Thr240=)SNV Likely benign 227469 rs752131356 1:41285030-41285030 1:40819358-40819358
50 MYO6 NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys)SNV Likely benign 164639 rs141845119 6:76599951-76599951 6:75890234-75890234

Expression for Nonsyndromic Hearing Loss

Search GEO for disease gene expression data for Nonsyndromic Hearing Loss.

Pathways for Nonsyndromic Hearing Loss

Pathways related to Nonsyndromic Hearing Loss according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.92 MYO6 GJB6 GJB3 GJB2
2 10.8 RDX MYO6 MYO3A MYO15A

GO Terms for Nonsyndromic Hearing Loss

Cellular components related to Nonsyndromic Hearing Loss according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.33 USH2A TMIE TJP2 TECTA RDX PCDH15
2 plasma membrane GO:0005886 10.22 USH2A TJP2 TECTA RDX PCDH15 MYO6
3 apical plasma membrane GO:0016324 9.78 USH2A RDX LHFPL5 GJB6
4 filopodium GO:0030175 9.61 RDX MYO6 MYO3A
5 myosin complex GO:0016459 9.54 MYO6 MYO3A MYO15A
6 gap junction GO:0005921 9.5 GJB6 GJB3 GJB2
7 connexin complex GO:0005922 9.43 GJB6 GJB3 GJB2
8 stereocilium tip GO:0032426 9.33 MYO3A LHFPL5 CEACAM16
9 stereocilium bundle GO:0032421 9.13 USH2A MYO15A LHFPL5
10 stereocilium GO:0032420 9.02 RDX PCDH15 MYO3A MYO15A CDH23

Biological processes related to Nonsyndromic Hearing Loss according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.83 USH2A PCDH15 MYO3A CDH23
2 locomotory behavior GO:0007626 9.72 PCDH15 MYO15A CDH23
3 actin filament organization GO:0007015 9.67 TRIOBP PCDH15 MYO6 MYO15A
4 inner ear development GO:0048839 9.63 PCDH15 GJB6 GJB2
5 barbed-end actin filament capping GO:0051016 9.58 TRIOBP RDX
6 cell communication GO:0007154 9.58 GJB6 GJB3 GJB2
7 vesicle transport along actin filament GO:0030050 9.57 MYO6 MYO15A
8 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.56 PCDH15 LHFPL5
9 inner ear auditory receptor cell differentiation GO:0042491 9.54 PCDH15 MYO6
10 gap junction assembly GO:0016264 9.51 GJB6 GJB2
11 photoreceptor cell maintenance GO:0045494 9.5 USH2A PCDH15 CDH23
12 sensory perception of sound GO:0007605 9.5 USH2A TRIOBP TMIE TECTA PCDH15 MYO6
13 equilibrioception GO:0050957 9.49 PCDH15 CDH23
14 cell communication by electrical coupling GO:0010644 9.48 GJB6 GJB2
15 inner ear morphogenesis GO:0042472 9.46 TMIE MYO6 MYO15A KCNQ4
16 gap junction-mediated intercellular transport GO:1990349 9.43 GJB6 GJB2
17 auditory receptor cell stereocilium organization GO:0060088 9.43 TRIOBP PCDH15 LHFPL5
18 sensory perception of light stimulus GO:0050953 9.13 USH2A PCDH15 CDH23

Molecular functions related to Nonsyndromic Hearing Loss according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.72 TRIOBP RDX MYO6 MYO3A MYO15A
2 actin filament binding GO:0051015 9.71 TRIOBP MYO6 MYO15A GJB6
3 calmodulin binding GO:0005516 9.67 MYO6 MYO3A MYO15A KCNQ4
4 motor activity GO:0003774 9.61 MYO6 MYO3A MYO15A
5 microfilament motor activity GO:0000146 9.33 MYO6 MYO3A MYO15A
6 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 9.26 GJB6 GJB2
7 actin-dependent ATPase activity GO:0030898 9.13 MYO6 MYO3A MYO15A
8 gap junction channel activity GO:0005243 8.8 GJB6 GJB3 GJB2

Sources for Nonsyndromic Hearing Loss

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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