MCID: NNS014
MIFTS: 27

Nonsyndromic Hearing Loss and Deafness

Categories: Genetic diseases, Ear diseases

Aliases & Classifications for Nonsyndromic Hearing Loss and Deafness

MalaCards integrated aliases for Nonsyndromic Hearing Loss and Deafness:

Name: Nonsyndromic Hearing Loss and Deafness 24 29

Classifications:



Summaries for Nonsyndromic Hearing Loss and Deafness

MalaCards based summary : Nonsyndromic Hearing Loss and Deafness is related to dfnx1 nonsyndromic hearing loss and deafness and nonsyndromic hearing loss and deafness, mitochondrial. An important gene associated with Nonsyndromic Hearing Loss and Deafness is OTOF (Otoferlin), and among its related pathways/superpathways is Gap junction trafficking. Related phenotypes are hearing/vestibular/ear and behavior/neurological

Related Diseases for Nonsyndromic Hearing Loss and Deafness

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

(showing 138, show less)
id Related Disease Score Top Affiliating Genes
1 dfnx1 nonsyndromic hearing loss and deafness 12.3
2 nonsyndromic hearing loss and deafness, mitochondrial 12.3
3 dfnb 7/11 nonsyndromic hearing loss and deafness 12.2
4 nonsyndromic hearing loss and deafness, dfna3 12.2
5 nonsyndromic hearing loss and deafness, dfnb1 12.2
6 dfnb 8/10 nonsyndromic hearing loss and deafness 12.2
7 dfna 3 nonsyndromic hearing loss and deafness 12.2
8 dfnb 1 nonsyndromic hearing loss and deafness 12.1
9 nonsyndromic hearing loss and deafness, autosomal recessive 12.1
10 dfna 1 nonsyndromic hearing loss and deafness 12.1
11 dfna 4 nonsyndromic hearing loss and deafness 12.1
12 dfna 5 nonsyndromic hearing loss and deafness 12.1
13 dfna 8/12 nonsyndromic hearing loss and deafness 12.1
14 dfna10 nonsyndromic hearing loss and deafness 12.1
15 dfna13 nonsyndromic hearing loss and deafness 12.1
16 dfna15 nonsyndromic hearing loss and deafness 12.1
17 dfna17 nonsyndromic hearing loss and deafness 12.1
18 dfna22 nonsyndromic hearing loss and deafness 12.1
19 dfna23 nonsyndromic hearing loss and deafness 12.1
20 dfna36 nonsyndromic hearing loss and deafness 12.1
21 dfna44 nonsyndromic hearing loss and deafness 12.1
22 dfnb 3 nonsyndromic hearing loss and deafness 12.1
23 dfnb 6 nonsyndromic hearing loss and deafness 12.1
24 dfnb12 nonsyndromic hearing loss and deafness 12.1
25 dfnb16 nonsyndromic hearing loss and deafness 12.1
26 dfnb18 nonsyndromic hearing loss and deafness 12.1
27 dfnb21 nonsyndromic hearing loss and deafness 12.1
28 dfnb22 nonsyndromic hearing loss and deafness 12.1
29 dfnb23 nonsyndromic hearing loss and deafness 12.1
30 dfnb24 nonsyndromic hearing loss and deafness 12.1
31 dfnb28 nonsyndromic hearing loss and deafness 12.1
32 dfnb29 nonsyndromic hearing loss and deafness 12.1
33 dfnb30 nonsyndromic hearing loss and deafness 12.1
34 dfnb35 nonsyndromic hearing loss and deafness 12.1
35 dfnb36 nonsyndromic hearing loss and deafness 12.1
36 dfnb37 nonsyndromic hearing loss and deafness 12.1
37 dfnb39 nonsyndromic hearing loss and deafness 12.1
38 dfnb49 nonsyndromic hearing loss and deafness 12.1
39 dfnb59 nonsyndromic hearing loss and deafness 12.1
40 dfnb63 nonsyndromic hearing loss and deafness 12.1
41 dfnb67 nonsyndromic hearing loss and deafness 12.1
42 dfnb77 nonsyndromic hearing loss and deafness 12.1
43 dfnb79 nonsyndromic hearing loss and deafness 12.1
44 gjb2-related dfna 3 nonsyndromic hearing loss and deafness 12.1
45 gjb2-related dfnb 1 nonsyndromic hearing loss and deafness 12.1
46 gjb6-related dfna 3 nonsyndromic hearing loss and deafness 12.1
47 gjb6-related dfnb 1 nonsyndromic hearing loss and deafness 12.1
48 nonsyndromic hearing loss and deafness, autosomal dominant 12.1
49 nonsyndromic hearing loss and deafness, x-linked 12.1
50 dfna 2b nonsyndromic hearing loss and deafness 12.1
51 dfna 4b nonsyndromic hearing loss and deafness 12.1
52 dfna 6/14/38 nonsyndromic hearing loss and deafness 12.1
53 dfna 9 nonsyndromic hearing loss and deafness 12.1
54 dfna11 nonsyndromic hearing loss and deafness 12.1
55 dfna20/26 nonsyndromic hearing loss and deafness 12.1
56 dfna25 nonsyndromic hearing loss and deafness 12.1
57 dfna28 nonsyndromic hearing loss and deafness 12.1
58 dfna40 nonsyndromic hearing loss and deafness 12.1
59 dfna41 nonsyndromic hearing loss and deafness 12.1
60 dfna48 nonsyndromic hearing loss and deafness 12.1
61 dfna50 nonsyndromic hearing loss and deafness 12.1
62 dfna51 nonsyndromic hearing loss and deafness 12.1
63 dfna64 nonsyndromic hearing loss and deafness 12.1
64 dfna65 nonsyndromic hearing loss and deafness 12.1
65 dfna69 nonsyndromic hearing loss and deafness 12.1
66 dfna76 nonsyndromic hearing loss and deafness 12.1
67 dfna91 nonsyndromic hearing loss and deafness 12.1
68 dfnb 2 nonsyndromic hearing loss and deafness 12.1
69 dfnb15 nonsyndromic hearing loss and deafness 12.1
70 dfnb25 nonsyndromic hearing loss and deafness 12.1
71 dfnb31 nonsyndromic hearing loss and deafness 12.1
72 dfnb42 nonsyndromic hearing loss and deafness 12.1
73 dfnb48 nonsyndromic hearing loss and deafness 12.1
74 dfnb53 nonsyndromic hearing loss and deafness 12.1
75 dfnb61 nonsyndromic hearing loss and deafness 12.1
76 dfnb70 nonsyndromic hearing loss and deafness 12.1
77 dfnb74 nonsyndromic hearing loss and deafness 12.1
78 dfnb84a nonsyndromic hearing loss and deafness 12.1
79 dfnb86 nonsyndromic hearing loss and deafness 12.1
80 dfnb89 nonsyndromic hearing loss and deafness 12.1
81 dfnb93 nonsyndromic hearing loss and deafness 12.1
82 dfnx2 nonsyndromic hearing loss and deafness 12.1
83 dfnx4 nonsyndromic hearing loss and deafness 12.1
84 dfnx6 nonsyndromic hearing loss and deafness 12.1
85 deafness, x-linked 2 11.1
86 nonsyndromic deafness 11.1
87 otof-related deafness 11.1
88 pendred syndrome/dfnb4 11.1
89 autosomal dominant nonsyndromic deafness 20 10.7 STRC TMPRSS3
90 autosomal dominant nonsyndromic deafness 6 10.7 OTOGL TECTA
91 anal canal carcinoma 10.6 GJB2 TECTA
92 myocardial infarction 2 10.6 GJB2 GJB6
93 myopia 22, autosomal dominant 10.6 GJB2 GJB6
94 pigmented nodular adrenocortical disease, primary, 2 10.6 GJB2 OTOF PJVK
95 deafness, autosomal dominant 3a 10.6 GJB2 GJB6
96 developmental dysplasia of the hip 1 10.6 GJB2 OTOF PJVK
97 leber congenital amaurosis 14 10.6 GJB2 OTOF TECTA
98 kikuchi disease 10.5 GJB2 GJB6
99 deafness, autosomal recessive 9 10.5 GJB2 OTOF TECTA
100 pseudocholinesterase deficiency 10.5 GJB2 GJB6
101 tooth agenesis, selective, 3 10.5 COCH STRC
102 congenital disorder of glycosylation with developmental anomaly 10.5 GJB2 GJB6
103 deafness, autosomal dominant 36 10.5 GJB2 TMC1
104 diabetes persistent mullerian ducts 10.5 GJB2 GJB6 OTOF
105 cataract 26, multiple types 10.5 GJB2 TMC1
106 pseudo-torch syndrome 1 10.4 GJB2 POU3F4
107 troyer syndrome 10.3 GJB2 GJB6
108 ausems wittebol-post hennekam syndrome 10.3 GJB2 GJB6 OTOF PJVK
109 keratoderma, palmoplantar, with deafness 10.3 GJB2 GJB6
110 deafness, autosomal recessive 10.3 GIPC3 GJB2 OTOF PJVK
111 viral laryngitis 10.3 COCH GJB2 GJB6
112 dihydrolipoamide dehydrogenase deficiency 10.1 COCH GJB2 GJB6 OTOF
113 atrial fibrillation, familial, 14 10.1 RDX TMPRSS3
114 x-linked nonsyndromic deafness 10.0 COCH MYO6 TECTA TMC1
115 preterm premature rupture of the membranes 10.0 MYO15A MYO6
116 ullrich congenital muscular dystrophy 2 10.0 MYO15A MYO6 TRIOBP
117 dfnb1 9.9
118 mixed lacrimal gland cancer 9.9 COCH GJB2 GJB6 KCNQ4
119 fascioliasis 9.9 GJB2 GJB6 MYO15A TMC1
120 bifid nose with or without anorectal and renal anomalies 9.9 MYO15A OTOA OTOF PJVK TMPRSS3
121 ectodermal dysplasia 6, hair/nail type 9.9 MYO15A OTOA OTOF PJVK TMPRSS3
122 deafness, autosomal recessive 37 9.9 COCH MYO15A MYO6
123 macrothrombocytopenia and progressive sensorineural deafness 9.8 GSDME MYO15A MYO6
124 fundus albipunctatus 9.8 MYO15A MYO6
125 microcephaly and chorioretinopathy, autosomal recessive, 3 9.7 COCH GJB2 GJB6 OTOF STRC TMPRSS3
126 severe combined immunodeficiency, athabascan type 9.7 GJB2 MYO15A MYO6 TMC1
127 deafness, autosomal dominant 2a 9.7 COCH GJB2 GJB6 KCNQ4 TMPRSS3
128 congenital muscular dystrophy due to lmna mutation 9.6 COCH GJB2 GSDME OTOF STRC TMPRSS3
129 deafness, autosomal dominant 11 9.6 GJB2 MYO15A MYO6 OTOF TECTA
130 autosomal recessive nonsyndromic deafness 8 9.6 GJB2 MYO15A MYO6 OTOF TECTA
131 orofacial cleft 9.2 GIPC3 GJB2 MYO15A OTOF TMC1 TMPRSS3
132 deafness, autosomal recessive 53 9.2 COCH GJB2 GSDME OTOF OTOGL STRC
133 nodular lichen myxedematosus 8.6 COCH GJB2 GJB6 GSDME KCNQ4 MYO6
134 narcissistic personality disorder 8.2 COCH GJB2 GJB6 KCNQ4 MYO15A OTOF
135 endometritis 7.9 COCH GJB2 GJB6 GSDME KCNQ4 MYO15A
136 discrete papular lichen myxedematosus 7.3 GIPC3 GJB2 GJB6 MYO15A MYO6 OTOA
137 autosomal recessive nonsyndromic deafness 5.7 COCH GIPC3 GJB2 GJB6 GSDME KCNQ4
138 nonsyndromic hydrocephalus, ccdc88c-related 5.7 COCH GIPC3 GJB2 GJB6 GSDME KCNQ4

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



Diseases related to Nonsyndromic Hearing Loss and Deafness

Symptoms & Phenotypes for Nonsyndromic Hearing Loss and Deafness

MGI Mouse Phenotypes related to Nonsyndromic Hearing Loss and Deafness:

44 (showing 3, show less)
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.89 USH2A MYO6 OTOA OTOF POU3F4 RDX
2 behavior/neurological MP:0005386 9.85 MYO15A MYO6 OTOF POU3F4 RDX GIPC3
3 nervous system MP:0003631 9.53 USH2A MYO6 OTOA OTOF POU3F4 RDX

Drugs & Therapeutics for Nonsyndromic Hearing Loss and Deafness

Interventional clinical trials:

(showing 4, show less)

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

Search NIH Clinical Center for Nonsyndromic Hearing Loss and Deafness

Genetic Tests for Nonsyndromic Hearing Loss and Deafness

Genetic tests related to Nonsyndromic Hearing Loss and Deafness:

id Genetic test Affiliating Genes
1 Nonsyndromic Hearing Loss and Deafness 29 24

Anatomical Context for Nonsyndromic Hearing Loss and Deafness

Publications for Nonsyndromic Hearing Loss and Deafness

Articles related to Nonsyndromic Hearing Loss and Deafness:

(showing 4, show less)
id Title Authors Year
1
DFNX1 Nonsyndromic Hearing Loss and Deafness ( 21834172 )
1993
2
Nonsyndromic Hearing Loss and Deafness, Mitochondrial ( 20301595 )
1993
3
Nonsyndromic Hearing Loss and Deafness, DFNB1 ( 20301449 )
1993
4
Nonsyndromic Hearing Loss and Deafness, DFNA3 ( 20301708 )
1993

Variations for Nonsyndromic Hearing Loss and Deafness

ClinVar genetic disease variations for Nonsyndromic Hearing Loss and Deafness:

6 (showing 130, show less)
id Gene Variation Type Significance SNP ID Assembly Location
1 MARVELD2 NM_001038603.2(MARVELD2): c.1498C> T (p.Arg500Ter) single nucleotide variant Pathogenic rs118203957 GRCh37 Chromosome 5, 68728915: 68728915
2 PJVK NM_001042702.3(PJVK): c.499C> T (p.Arg167Ter) single nucleotide variant Pathogenic rs118203989 GRCh37 Chromosome 2, 179320828: 179320828
3 TMC1 NM_138691.2(TMC1): c.1714G> A (p.Asp572Asn) single nucleotide variant Pathogenic rs121908072 GRCh37 Chromosome 9, 75431077: 75431077
4 TMC1 NM_138691.2(TMC1): c.100C> T (p.Arg34Ter) single nucleotide variant Pathogenic rs121908073 GRCh37 Chromosome 9, 75309494: 75309494
5 PCDH15 NM_033056.3(PCDH15): c.400C> G (p.Arg134Gly) single nucleotide variant Pathogenic/Likely pathogenic rs137853003 GRCh37 Chromosome 10, 56128954: 56128954
6 GJB6 NM_006783.4(GJB6): c.31G> A (p.Gly11Arg) single nucleotide variant Pathogenic rs104894415 GRCh37 Chromosome 13, 20797589: 20797589
7 OTOF NM_194248.2(OTOF): c.4491T> A (p.Tyr1497Ter) single nucleotide variant Pathogenic rs80356600 GRCh37 Chromosome 2, 26689591: 26689591
8 OTOF NM_194248.2(OTOF): c.2485C> T (p.Gln829Ter) single nucleotide variant Pathogenic rs80356593 GRCh37 Chromosome 2, 26700078: 26700078
9 KCNQ4 NM_004700.3(KCNQ4): c.853G> A (p.Gly285Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28937588 GRCh37 Chromosome 1, 41285565: 41285565
10 KCNQ4 NM_004700.3(KCNQ4): c.827G> C (p.Trp276Ser) single nucleotide variant Pathogenic rs80358277 GRCh37 Chromosome 1, 41285137: 41285137
11 COCH NM_004086.2(COCH): c.151C> T (p.Pro51Ser) single nucleotide variant Pathogenic rs28938175 GRCh37 Chromosome 14, 31346846: 31346846
12 COCH NM_004086.2(COCH): c.1625G> T (p.Cys542Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121908932 GRCh37 Chromosome 14, 31358969: 31358969
13 MYO6 NM_004999.3(MYO6): c.737A> G (p.His246Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121912560 GRCh37 Chromosome 6, 76551016: 76551016
14 GJB2 NM_004004.5(GJB2): c.231G> A (p.Trp77Ter) single nucleotide variant Pathogenic rs80338944 GRCh37 Chromosome 13, 20763490: 20763490
15 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh37 Chromosome 13, 20763650: 20763650
16 GJB2 NM_004004.5(GJB2): c.229T> C (p.Trp77Arg) single nucleotide variant Pathogenic rs104894397 GRCh37 Chromosome 13, 20763492: 20763492
17 GJB2 NM_004004.5(GJB2): c.551G> C (p.Arg184Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338950 GRCh37 Chromosome 13, 20763170: 20763170
18 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh37 Chromosome 13, 20763294: 20763294
19 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
20 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
21 GJB2 NM_004004.5(GJB2): c.358_360delGAG (p.Glu120del) deletion Pathogenic rs80338947 GRCh37 Chromosome 13, 20763361: 20763363
22 GJB2 NM_004004.5(GJB2): c.223C> T (p.Arg75Trp) single nucleotide variant Pathogenic rs104894402 GRCh37 Chromosome 13, 20763498: 20763498
23 GJB2 NM_004004.5(GJB2): c.235delC (p.Leu79Cysfs) deletion Pathogenic rs80338943 GRCh37 Chromosome 13, 20763486: 20763486
24 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
25 GJB2 NM_004004.5(GJB2): c.109G> A (p.Val37Ile) single nucleotide variant Pathogenic/Likely pathogenic rs72474224 GRCh37 Chromosome 13, 20763612: 20763612
26 GJB2 NM_004004.5(GJB2): c.224G> A (p.Arg75Gln) single nucleotide variant Pathogenic rs28931593 GRCh37 Chromosome 13, 20763497: 20763497
27 GJB2 NM_004004.5(GJB2): c.-23+1G> A single nucleotide variant Pathogenic rs80338940 GRCh37 Chromosome 13, 20766921: 20766921
28 GJB2 NM_004004.5(GJB2): c.250G> C (p.Val84Leu) single nucleotide variant Pathogenic rs104894409 GRCh37 Chromosome 13, 20763471: 20763471
29 GJB2 NM_004004.5(GJB2): c.250G> A (p.Val84Met) single nucleotide variant Pathogenic rs104894409 GRCh37 Chromosome 13, 20763471: 20763471
30 ACTG1 NM_001614.3(ACTG1): c.721G> A (p.Glu241Lys) single nucleotide variant Pathogenic/Likely pathogenic rs267606631 GRCh37 Chromosome 17, 79478295: 79478295
31 GJB2 NM_004004.5(GJB2): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic/Likely pathogenic rs1801002 GRCh37 Chromosome 13, 20763686: 20763686
32 OTOF NM_194248.2(OTOF): c.2122C> T (p.Arg708Ter) single nucleotide variant Pathogenic rs80356590 GRCh37 Chromosome 2, 26702224: 26702224
33 OTOF NM_194248.2(OTOF): c.2348delG (p.Gly783Alafs) deletion Pathogenic rs80356591 GRCh37 Chromosome 2, 26700342: 26700342
34 POU3F4 NM_000307.4(POU3F4): c.499C> T (p.Arg167Ter) single nucleotide variant Pathogenic rs111033345 GRCh37 Chromosome X, 82763831: 82763831
35 POU3F4 NM_000307.4(POU3F4): c.853_854delAT (p.Ile285Argfs) deletion Pathogenic rs397516336 GRCh37 Chromosome X, 82764185: 82764186
36 GJB2 NM_004004.5(GJB2): c.169C> T (p.Gln57Ter) single nucleotide variant Pathogenic rs111033297 GRCh37 Chromosome 13, 20763552: 20763552
37 GJB2 NM_004004.5(GJB2): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic/Likely pathogenic rs111033299 GRCh37 Chromosome 13, 20763438: 20763438
38 GJB2 NM_004004.5(GJB2): c.299_300delAT (p.His100Argfs) deletion Pathogenic rs111033204 GRCh37 Chromosome 13, 20763421: 20763422
39 GJB2 NM_004004.5(GJB2): c.313_326delAAGTTCATCAAGGG (p.Lys105Glyfs) deletion Pathogenic rs111033253 GRCh37 Chromosome 13, 20763395: 20763408
40 GJB2 NM_004004.5(GJB2): c.31_68del38 (p.Gly11Leufs) deletion Pathogenic/Likely pathogenic rs397516873 GRCh37 Chromosome 13, 20763653: 20763690
41 GJB2 NM_004004.5(GJB2): c.365A> T (p.Lys122Ile) single nucleotide variant Pathogenic/Likely pathogenic rs111033295 GRCh37 Chromosome 13, 20763356: 20763356
42 GJB2 NM_004004.5(GJB2): c.370C> T (p.Gln124Ter) single nucleotide variant Pathogenic rs397516874 GRCh37 Chromosome 13, 20763351: 20763351
43 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh37 Chromosome 13, 20763305: 20763305
44 GJB2 NM_004004.5(GJB2): c.426C> A (p.Phe142Leu) single nucleotide variant Pathogenic rs397516877 GRCh37 Chromosome 13, 20763295: 20763295
45 GJB2 NM_004004.5(GJB2): c.44A> C (p.Lys15Thr) single nucleotide variant Pathogenic/Likely pathogenic rs111033217 GRCh37 Chromosome 13, 20763677: 20763677
46 GJB2 NM_004004.5(GJB2) indel Pathogenic rs111033335 GRCh37 Chromosome 13, 20763121: 20763129
47 GJB2 NM_004004.5(GJB2): c.617A> G (p.Asn206Ser) single nucleotide variant Pathogenic rs111033294 GRCh37 Chromosome 13, 20763104: 20763104
48 GJB2 NM_004004.5(GJB2): c.95G> A (p.Arg32His) single nucleotide variant Pathogenic rs111033190 GRCh37 Chromosome 13, 20763626: 20763626
49 MYO15A NM_016239.3(MYO15A): c.7006_7007insC (p.Gln2336Profs) insertion Pathogenic rs397517286 GRCh37 Chromosome 17, 18052579: 18052579
50 MYO15A NM_016239.3(MYO15A): c.8100delC (p.Lys2701Argfs) deletion Pathogenic rs397517287 GRCh37 Chromosome 17, 18057456: 18057456
51 MYO15A NM_016239.3(MYO15A): c.8767C> T (p.Arg2923Ter) single nucleotide variant Pathogenic rs373462792 GRCh37 Chromosome 17, 18060523: 18060523
52 TMPRSS3 NM_024022.2(TMPRSS3): c.323-6G> A single nucleotide variant Pathogenic rs374793617 GRCh37 Chromosome 21, 43808641: 43808641
53 TMPRSS3 NM_024022.2(TMPRSS3): c.325C> T (p.Arg109Trp) single nucleotide variant Pathogenic/Likely pathogenic rs201632198 GRCh37 Chromosome 21, 43808633: 43808633
54 TMPRSS3 NM_024022.2(TMPRSS3): c.413C> A (p.Ala138Glu) single nucleotide variant Pathogenic/Likely pathogenic rs147231991 GRCh37 Chromosome 21, 43808545: 43808545
55 TMPRSS3 NM_024022.2(TMPRSS3): c.579_580insA (p.Cys194Metfs) insertion Pathogenic rs397517376 GRCh37 Chromosome 21, 43804116: 43804116
56 TMPRSS3 NM_024022.2(TMPRSS3): c.916G> A (p.Ala306Thr) single nucleotide variant Pathogenic rs181949335 GRCh37 Chromosome 21, 43802210: 43802210
57 LOXHD1 NM_144612.6(LOXHD1): c.2497C> T (p.Arg833Ter) single nucleotide variant Pathogenic rs188119157 GRCh37 Chromosome 18, 44143129: 44143129
58 OTOF NM_194248.2(OTOF): c.2153G> A (p.Trp718Ter) single nucleotide variant Pathogenic rs111033383 GRCh37 Chromosome 2, 26702193: 26702193
59 OTOF NM_194248.2(OTOF): c.2239G> T (p.Glu747Ter) single nucleotide variant Pathogenic rs397515591 GRCh37 Chromosome 2, 26700593: 26700593
60 GJB2 NM_004004.5(GJB2): c.647_650delGATA (p.Arg216Ilefs) deletion Pathogenic/Likely pathogenic rs587783647 GRCh38 Chromosome 13, 20188932: 20188935
61 GJB2 NM_004004.5(GJB2): c.298C> T (p.His100Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs143343083 GRCh38 Chromosome 13, 20189284: 20189284
62 KCNQ4 NM_004700.3(KCNQ4): c.459delC (p.Ala154Profs) deletion Pathogenic rs727504635 GRCh38 Chromosome 1, 40818217: 40818217
63 OTOF NM_194248.2(OTOF): c.3178delG (p.Ala1060Glnfs) deletion Pathogenic rs727504639 GRCh38 Chromosome 2, 26474623: 26474623
64 OTOF NM_194248.2(OTOF): c.2991+2T> G single nucleotide variant Pathogenic rs370132645 GRCh37 Chromosome 2, 26698780: 26698780
65 OTOF NM_194248.2(OTOF): c.2818C> T (p.Gln940Ter) single nucleotide variant Pathogenic rs727504936 GRCh37 Chromosome 2, 26699044: 26699044
66 OTOF NM_194248.2(OTOF): c.5203delC (p.Arg1735Glyfs) deletion Pathogenic rs727503352 GRCh38 Chromosome 2, 26462171: 26462171
67 OTOF NM_194248.2(OTOF): c.4799+1G> A single nucleotide variant Pathogenic rs200147906 GRCh37 Chromosome 2, 26688539: 26688539
68 OTOF NM_194248.2(OTOF): c.2977_2978delAG (p.Gln994Valfs) deletion Pathogenic rs397515597 GRCh38 Chromosome 2, 26475927: 26475928
69 MYO6 NM_004999.3(MYO6): c.826C> T (p.Arg276Ter) single nucleotide variant Pathogenic rs727503326 GRCh37 Chromosome 6, 76554623: 76554623
70 GSDME NM_004403.2(GSDME): c.991-15_991-13delTTC deletion Pathogenic rs727505273 GRCh37 Chromosome 7, 24746008: 24746010
71 LRTOMT NM_001145308.4(LRTOMT): c.358+4A> C single nucleotide variant Pathogenic/Likely pathogenic rs545947177 GRCh38 Chromosome 11, 72106214: 72106214
72 TMC1 NM_138691.2(TMC1): c.22delA (p.Ile8Serfs) deletion Pathogenic rs727504554 GRCh38 Chromosome 9, 72688714: 72688714
73 RDX NM_002906.3(RDX): c.1308delG (p.Lys438Argfs) deletion Pathogenic rs727504709 GRCh38 Chromosome 11, 110236135: 110236135
74 STRC NM_153700.2(STRC): c.(?_4376)-190_(4845_?)-68del deletion Pathogenic GRCh37 Chromosome 15, 43892948: 43895799
75 GJB2 NM_004004.5(GJB2): c.269dupT (p.Val91Serfs) duplication Pathogenic/Likely pathogenic rs730880338 GRCh37 Chromosome 13, 20763452: 20763452
76 STRC NC_000015.10: g.(?_43600534)_(43601014_?)del deletion Pathogenic GRCh37 Chromosome 15, 43892732: 43893212
77 OTOA NM_144672.3(OTOA): c.(?_2302)_(2431_?)del (p.(?)) deletion Pathogenic GRCh37 Chromosome 16, 21747582: 21747711
78 OTOA NM_144672.3(OTOA): c.1688+1G> T single nucleotide variant Pathogenic rs727503350 GRCh37 Chromosome 16, 21730513: 21730513
79 OTOA NM_144672.3(OTOA): c.1880+1G> A single nucleotide variant Pathogenic rs148690740 GRCh37 Chromosome 16, 21734300: 21734300
80 STRC NC_000015.10: g.(?_43599672)_(43618722_?)del deletion Pathogenic GRCh37 Chromosome 15, 43891870: 43910920
81 STRC NM_153700.2(STRC): c.5188C> T (p.Arg1730Ter) single nucleotide variant Pathogenic rs139956283 GRCh37 Chromosome 15, 43892209: 43892209
82 STRC NM_153700.2(STRC): c.4796_4800delGTGGA (p.Cys1599Serfs) deletion Pathogenic rs727503442 GRCh37 Chromosome 15, 43893114: 43893118
83 STRC NM_153700.2(STRC): c.4701+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs199839039 GRCh37 Chromosome 15, 43893593: 43893593
84 STRC NM_153700.2(STRC): c.3484delT (p.Trp1162Glyfs) deletion Pathogenic rs727505074 GRCh37 Chromosome 15, 43902524: 43902524
85 OTOA NC_000016.10: g.(?_21678515)_(21760540_?)del deletion Pathogenic GRCh37 Chromosome 16, 21689836: 21771861
86 STRC NC_000015.10: g.(?_43600534)_(43605399_?)del deletion Pathogenic GRCh37 Chromosome 15, 43892732: 43897597
87 STRC NM_153700.2(STRC): c.4402C> T (p.Arg1468Ter) single nucleotide variant Pathogenic rs377480477 GRCh37 Chromosome 15, 43895583: 43895583
88 STRC NM_153700.2(STRC): c.4195G> T (p.Glu1399Ter) single nucleotide variant Pathogenic rs371513959 GRCh37 Chromosome 15, 43896582: 43896582
89 STRC NM_153700.2(STRC): c.3670C> T (p.Arg1224Ter) single nucleotide variant Pathogenic rs727503444 GRCh37 Chromosome 15, 43900289: 43900289
90 TMPRSS3 NM_024022.2(TMPRSS3): c.1192C> T (p.Gln398Ter) single nucleotide variant Pathogenic rs727504304 GRCh37 Chromosome 21, 43796652: 43796652
91 TRIOBP NM_001039141.2(TRIOBP): c.6598C> T (p.Arg2200Ter) single nucleotide variant Pathogenic rs727503528 GRCh38 Chromosome 22, 37769050: 37769050
92 TMPRSS3 NM_024022.2(TMPRSS3): c.208delC (p.His70Thrfs) deletion Pathogenic rs727503493 GRCh37 Chromosome 21, 43809152: 43809152
93 MYO15A NM_016239.3(MYO15A): c.5851delA (p.Ser1951Valfs) deletion Pathogenic rs727504995 GRCh37 Chromosome 17, 18046095: 18046095
94 MYO15A NM_016239.3(MYO15A): c.7893+1G> A single nucleotide variant Pathogenic rs727503316 GRCh37 Chromosome 17, 18055266: 18055266
95 MYO15A NM_016239.3(MYO15A): c.8714-1G> A single nucleotide variant Pathogenic rs377015931 GRCh37 Chromosome 17, 18060469: 18060469
96 MYO15A NM_016239.3(MYO15A): c.10136C> A (p.Ser3379Ter) single nucleotide variant Pathogenic rs546575046 GRCh38 Chromosome 17, 18171691: 18171691
97 LOXHD1 NM_144612.6(LOXHD1): c.4099G> T (p.Glu1367Ter) single nucleotide variant Pathogenic rs373937326 GRCh37 Chromosome 18, 44114411: 44114411
98 LOXHD1 NM_144612.6(LOXHD1): c.2303delG (p.Gly768Alafs) deletion Pathogenic rs727503146 GRCh37 Chromosome 18, 44146354: 44146354
99 GIPC3 NM_133261.2(GIPC3): c.279_295del17 (p.Gln95Leufs) deletion Pathogenic rs727504771 GRCh38 Chromosome 19, 3586548: 3586564
100 MYO15A NM_016239.3(MYO15A): c.5531+1G> A single nucleotide variant Pathogenic rs727503309 GRCh37 Chromosome 17, 18044458: 18044458
101 MYO15A NM_016239.3(MYO15A): c.6046+1G> A single nucleotide variant Pathogenic rs201978571 GRCh37 Chromosome 17, 18047111: 18047111
102 MYO15A NM_016239.3(MYO15A): c.7226delC (p.Pro2409Glnfs) deletion Pathogenic rs727503315 GRCh37 Chromosome 17, 18053756: 18053756
103 LOXHD1 NM_144612.6(LOXHD1): c.3169C> T (p.Arg1057Ter) single nucleotide variant Pathogenic rs727505104 GRCh37 Chromosome 18, 44139458: 44139458
104 TMC1 NM_138691.2(TMC1): c.215_219dupGGAGG (p.Arg74Glyfs) duplication Pathogenic rs730880359 GRCh37 Chromosome 9, 75309609: 75309613
105 GJB2 NM_004004.5(GJB2): c.208C> G (p.Pro70Ala) single nucleotide variant Pathogenic rs200023879 GRCh37 Chromosome 13, 20763513: 20763513
106 GJB2 NM_004004.5(GJB2): c.230G> A (p.Trp77Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894395 GRCh38 Chromosome 13, 20189352: 20189352
107 MARVELD2 NM_001038603.2(MARVELD2): c.1331+1G> A single nucleotide variant Pathogenic rs762352115 GRCh38 Chromosome 5, 69432676: 69432676
108 MYO6 NM_004999.3(MYO6): c.458C> G (p.Ser153Ter) single nucleotide variant Pathogenic rs876657710 GRCh37 Chromosome 6, 76542625: 76542625
109 MYO6 NM_004999.3(MYO6): c.2814_2815delAA (p.Arg939Thrfs) deletion Pathogenic rs876657709 GRCh37 Chromosome 6, 76599929: 76599930
110 TMC1 NM_138691.2(TMC1): c.1236delT (p.Met413Cysfs) deletion Pathogenic rs876657727 GRCh38 Chromosome 9, 72791897: 72791897
111 TMC1 NM_138691.2(TMC1): c.1676G> A (p.Trp559Ter) single nucleotide variant Pathogenic rs876657728 GRCh37 Chromosome 9, 75420407: 75420407
112 TMC1 NM_138691.2(TMC1): c.1677G> A (p.Trp559Ter) single nucleotide variant Pathogenic rs876657729 GRCh37 Chromosome 9, 75420408: 75420408
113 TECTA NM_005422.2(TECTA): c.5977C> T (p.Arg1993Ter) single nucleotide variant Pathogenic rs760574657 GRCh38 Chromosome 11, 121168903: 121168903
114 OTOG NM_001277269.1(OTOG): c.535delG (p.Val179Trpfs) deletion Pathogenic/Likely pathogenic rs876657657 GRCh38 Chromosome 11, 17553478: 17553478
115 OTOGL NM_173591.3(OTOGL): c.948delG (p.Leu316Phefs) deletion Pathogenic rs766753922 GRCh38 Chromosome 12, 80239362: 80239362
116 OTOGL NM_173591.3(OTOGL): c.4987C> T (p.Arg1663Ter) single nucleotide variant Pathogenic rs759174628 GRCh37 Chromosome 12, 80733008: 80733008
117 GJB2 NM_004004.5(GJB2): c.523_533delCCCAACACTGT (p.Pro175Glyfs) deletion Pathogenic rs876657693 GRCh38 Chromosome 13, 20189049: 20189059
118 STRC NM_153700.2(STRC): c.(?_4443)_(4845_?)-68del deletion Pathogenic GRCh38 Chromosome 15, 43600750: 43603344
119 STRC NM_153700.2(STRC): c.(?_3499)-60_(3557_?)+31del deletion Pathogenic GRCh37 Chromosome 15, 43901443: 43901592
120 STRC NM_153700.2(STRC): c.3493C> T (p.Gln1165Ter) single nucleotide variant Pathogenic rs876657726 GRCh37 Chromosome 15, 43902515: 43902515
121 STRC NM_153700.2(STRC): c.3217C> T (p.Arg1073Ter) single nucleotide variant Pathogenic rs876657725 GRCh37 Chromosome 15, 43903435: 43903435
122 STRC NM_153700.2(STRC): c.1086C> A (p.Tyr362Ter) single nucleotide variant Pathogenic rs876657724 GRCh37 Chromosome 15, 43908678: 43908678
123 OTOA NM_144672.3(OTOA): c.746_751delCTGCTTinsA (p.Ser249Tyrfs) indel Pathogenic rs876657716 GRCh38 Chromosome 16, 21697781: 21697786
124 MYO15A NM_016239.3(MYO15A): c.1185_1186insC (p.Glu396Argfs) duplication Pathogenic rs876657707 GRCh38 Chromosome 17, 18119985: 18119985
125 MYO15A NM_016239.3(MYO15A): c.5896C> T (p.Arg1966Ter) single nucleotide variant Pathogenic rs765468034 GRCh37 Chromosome 17, 18046140: 18046140
126 MYO15A NM_016239.3(MYO15A): c.9303+1G> T single nucleotide variant Pathogenic rs876657708 GRCh37 Chromosome 17, 18062994: 18062994
127 GIPC3 NM_133261.2(GIPC3): c.411+1G> A single nucleotide variant Pathogenic rs876657692 GRCh38 Chromosome 19, 3586681: 3586681
128 POU3F4 NM_000307.4(POU3F4): c.607_610delCAAA (p.Gln203Glufs) deletion Pathogenic rs876657719 GRCh38 Chromosome X, 83508931: 83508934
129 USH2A NM_206933.2(USH2A): c.9685delG (p.Glu3229Argfs) deletion Pathogenic rs878853233 GRCh37 Chromosome 1, 215987132: 215987132
130 CEACAM16 NM_001039213.3(CEACAM16): c.703C> T (p.Arg235Cys) single nucleotide variant Pathogenic rs746164064 GRCh38 Chromosome 19, 44705631: 44705631

Expression for Nonsyndromic Hearing Loss and Deafness

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

Pathways for Nonsyndromic Hearing Loss and Deafness

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

(showing 1, show less)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.79 GJB2 GJB6 MYO6

GO Terms for Nonsyndromic Hearing Loss and Deafness

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

(showing 5, show less)
id Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.56 GJB6 OTOA RDX USH2A
2 connexin complex GO:0005922 9.32 GJB2 GJB6
3 stereocilium tip GO:0032426 9.16 STRC TMC1
4 stereocilium bundle GO:0032421 8.96 MYO15A USH2A
5 stereocilium GO:0032420 8.8 MYO15A RDX STRC

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

(showing 6, show less)
id Name GO ID Score Top Affiliating Genes
1 cell-matrix adhesion GO:0007160 9.54 OTOA STRC TECTA
2 sensory perception of sound GO:0007605 9.5 COCH GJB2 GJB6 KCNQ4 MYO15A MYO6
3 barbed-end actin filament capping GO:0051016 9.32 RDX TRIOBP
4 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.26 STRC TMC1
5 inner ear development GO:0048839 9.13 GJB2 GJB6 POU3F4
6 inner ear receptor cell differentiation GO:0060113 8.85 USH2A

Sources for Nonsyndromic Hearing Loss and Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
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70 UMLS via Orphanet
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