MCID: NNS014
MIFTS: 28

Nonsyndromic Hearing Loss and Deafness malady

Categories: Genetic diseases (common), Ear diseases

Aliases & Classifications for Nonsyndromic Hearing Loss and Deafness

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Aliases & Descriptions for Nonsyndromic Hearing Loss and Deafness:

Name: Nonsyndromic Hearing Loss and Deafness 24 27

Classifications:



Summaries for Nonsyndromic Hearing Loss and Deafness

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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 GJB6 (Gap Junction Protein Beta 6), and among its related pathways is Gap junction trafficking. Related mouse phenotypes are behavior/neurological and hearing/vestibular/ear.

Related Diseases for Nonsyndromic Hearing Loss and Deafness

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

(show top 50)    (show all 146)
idRelated DiseaseScoreTop Affiliating Genes
1dfnx1 nonsyndromic hearing loss and deafness12.3
2nonsyndromic hearing loss and deafness, mitochondrial12.3
3dfnb 7/11 nonsyndromic hearing loss and deafness12.2
4nonsyndromic hearing loss and deafness, dfna312.2
5nonsyndromic hearing loss and deafness, dfnb112.2
6dfnb 8/10 nonsyndromic hearing loss and deafness12.2
7dfna 3 nonsyndromic hearing loss and deafness12.2
8dfnb 1 nonsyndromic hearing loss and deafness12.1
9nonsyndromic hearing loss and deafness, autosomal recessive12.1
10dfna 1 nonsyndromic hearing loss and deafness12.1
11dfna 4 nonsyndromic hearing loss and deafness12.1
12dfna 5 nonsyndromic hearing loss and deafness12.1
13dfna 8/12 nonsyndromic hearing loss and deafness12.1
14dfna10 nonsyndromic hearing loss and deafness12.1
15dfna13 nonsyndromic hearing loss and deafness12.1
16dfna15 nonsyndromic hearing loss and deafness12.1
17dfna17 nonsyndromic hearing loss and deafness12.1
18dfna22 nonsyndromic hearing loss and deafness12.1
19dfna23 nonsyndromic hearing loss and deafness12.1
20dfna36 nonsyndromic hearing loss and deafness12.1
21dfna44 nonsyndromic hearing loss and deafness12.1
22dfnb 3 nonsyndromic hearing loss and deafness12.1
23dfnb 6 nonsyndromic hearing loss and deafness12.1
24dfnb12 nonsyndromic hearing loss and deafness12.1
25dfnb16 nonsyndromic hearing loss and deafness12.1
26dfnb18 nonsyndromic hearing loss and deafness12.1
27dfnb21 nonsyndromic hearing loss and deafness12.1
28dfnb22 nonsyndromic hearing loss and deafness12.1
29dfnb23 nonsyndromic hearing loss and deafness12.1
30dfnb24 nonsyndromic hearing loss and deafness12.1
31dfnb28 nonsyndromic hearing loss and deafness12.1
32dfnb29 nonsyndromic hearing loss and deafness12.1
33dfnb30 nonsyndromic hearing loss and deafness12.1
34dfnb35 nonsyndromic hearing loss and deafness12.1
35dfnb36 nonsyndromic hearing loss and deafness12.1
36dfnb37 nonsyndromic hearing loss and deafness12.1
37dfnb39 nonsyndromic hearing loss and deafness12.1
38dfnb49 nonsyndromic hearing loss and deafness12.1
39dfnb59 nonsyndromic hearing loss and deafness12.1
40dfnb63 nonsyndromic hearing loss and deafness12.1
41dfnb67 nonsyndromic hearing loss and deafness12.1
42dfnb77 nonsyndromic hearing loss and deafness12.1
43dfnb79 nonsyndromic hearing loss and deafness12.1
44gjb2-related dfna 3 nonsyndromic hearing loss and deafness12.1
45gjb2-related dfnb 1 nonsyndromic hearing loss and deafness12.1
46gjb6-related dfna 3 nonsyndromic hearing loss and deafness12.1
47gjb6-related dfnb 1 nonsyndromic hearing loss and deafness12.1
48dfna65 nonsyndromic hearing loss and deafness12.1
49dfnb86 nonsyndromic hearing loss and deafness12.1
50nonsyndromic hearing loss and deafness, autosomal dominant12.1

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

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MGI Mouse Phenotypes related to Nonsyndromic Hearing Loss and Deafness according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053869.7CEACAM16, DFNB59, GIPC3, GJB6, MARVELD2, MYO15A
2MP:00053779.0CEACAM16, COCH, DFNA5, DFNB59, GIPC3, GJB2
3MP:00036318.5DFNA5, DFNB59, GIPC3, GJB2, GJB6, MARVELD2

Drugs & Therapeutics for Nonsyndromic Hearing Loss and Deafness

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Epidemiology of Non-syndromic Dominant DeafnessCompletedNCT01150305
2Non-Syndrome Hereditary Hearing Impairment - Gene Mapping: India/Pakistan ProtocolRecruitingNCT00341874
3Clinical and Genetic Analysis of Enlarged Vestibular AqueductsRecruitingNCT00023036
4Rate of Progression in USH2A Related Retinal DegenerationRecruitingNCT03146078
5Genetic Analysis of Human Hereditary Hearing ImpairmentTerminatedNCT00001606

Search NIH Clinical Center for Nonsyndromic Hearing Loss and Deafness

Genetic Tests for Nonsyndromic Hearing Loss and Deafness

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Genetic tests related to Nonsyndromic Hearing Loss and Deafness:

id Genetic test Affiliating Genes
1 Nonsyndromic Hearing Loss and Deafness27 24

Anatomical Context for Nonsyndromic Hearing Loss and Deafness

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Publications for Nonsyndromic Hearing Loss and Deafness

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Articles related to Nonsyndromic Hearing Loss and Deafness:

idTitleAuthorsYear
1
Nonsyndromic Hearing Loss and Deafness, DFNB1 (20301449)
1993
2
Nonsyndromic Hearing Loss and Deafness, DFNA3 (20301708)
1993
3
DFNX1 Nonsyndromic Hearing Loss and Deafness (21834172)
1993
4
Nonsyndromic Hearing Loss and Deafness, Mitochondrial (20301595)
1993

Variations for Nonsyndromic Hearing Loss and Deafness

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Clinvar genetic disease variations for Nonsyndromic Hearing Loss and Deafness:

5 (show all 130)
id Gene Variation Type Significance SNP ID Assembly Location
1MARVELD2NM_ 001038603.2(MARVELD2): c.1498C> T (p.Arg500Ter)SNVPathogenicrs118203957GRCh37Chr 5, 68728915: 68728915
2DFNB59NM_ 001042702.3(DFNB59): c.499C> T (p.Arg167Ter)SNVPathogenicrs118203989GRCh37Chr 2, 179320828: 179320828
3GJB2NM_ 004004.5(GJB2): c.298C> T (p.His100Tyr)SNVPathogenic/ Likely pathogenicrs143343083GRCh37Chr 13, 20763423: 20763423
4GJB2NM_ 004004.5(GJB2): c.647_ 650delGATA (p.Arg216Ilefs)deletionPathogenic/ Likely pathogenicrs587783647GRCh37Chr 13, 20763071: 20763074
5LOXHD1NM_ 144612.6(LOXHD1): c.4099G> T (p.Glu1367Ter)SNVPathogenicrs373937326GRCh37Chr 18, 44114411: 44114411
6LOXHD1NM_ 144612.6(LOXHD1): c.2303delG (p.Gly768Alafs)deletionPathogenicrs727503146GRCh37Chr 18, 44146354: 44146354
7MYO15ANM_ 016239.3(MYO15A): c.5531+1G> ASNVPathogenicrs727503309GRCh37Chr 17, 18044458: 18044458
8MYO15ANM_ 016239.3(MYO15A): c.6046+1G> ASNVPathogenicrs201978571GRCh37Chr 17, 18047111: 18047111
9MYO15ANM_ 016239.3(MYO15A): c.7226delC (p.Pro2409Glnfs)deletionPathogenicrs727503315GRCh37Chr 17, 18053756: 18053756
10MYO15ANM_ 016239.3(MYO15A): c.7893+1G> ASNVPathogenicrs727503316GRCh37Chr 17, 18055266: 18055266
11MYO6NM_ 004999.3(MYO6): c.826C> T (p.Arg276Ter)SNVPathogenicrs727503326GRCh37Chr 6, 76554623: 76554623
12OTOANM_ 144672.3(OTOA): c.(?_ 2302)_ (2431_ ?)del (p.(?))deletionPathogenicGRCh37Chr 16, 21747582: 21747711
13OTOANM_ 144672.3(OTOA): c.1688+1G> TSNVPathogenicrs727503350GRCh37Chr 16, 21730513: 21730513
14OTOANM_ 144672.3(OTOA): c.1880+1G> ASNVPathogenicrs148690740GRCh38Chr 16, 21722979: 21722979
15OTOFNM_ 194248.2(OTOF): c.5203delC (p.Arg1735Glyfs)deletionPathogenicrs727503352GRCh37Chr 2, 26685039: 26685039
16OTOFNM_ 194248.2(OTOF): c.4799+1G> ASNVPathogenicrs200147906GRCh38Chr 2, 26465671: 26465671
17STRCNC_ 000015.10: g.(?_ 43599672)_ (43618722_ ?)deldeletionPathogenicGRCh37Chr 15, 43891870: 43910920
18STRCNC_ 000015.10: g.(?_ 43600534)_ (43601014_ ?)deldeletionPathogenicGRCh37Chr 15, 43892732: 43893212
19STRCNC_ 000015.10: g.(?_ 43600534)_ (43605399_ ?)deldeletionPathogenicGRCh37Chr 15, 43892732: 43897597
20STRCNM_ 153700.2(STRC): c.5188C> T (p.Arg1730Ter)SNVPathogenicrs139956283GRCh38Chr 15, 43600011: 43600011
21STRCNM_ 153700.2(STRC): c.4796_ 4800delGTGGA (p.Cys1599Serfs)deletionPathogenicrs727503442GRCh37Chr 15, 43893114: 43893118
22STRCNM_ 153700.2(STRC): c.4701+1G> ASNVPathogenic/ Likely pathogenicrs199839039GRCh37Chr 15, 43893593: 43893593
23STRCNM_ 153700.2(STRC): c.4195G> T (p.Glu1399Ter)SNVPathogenicrs371513959GRCh37Chr 15, 43896582: 43896582
24STRCNM_ 153700.2(STRC): c.3670C> T (p.Arg1224Ter)SNVPathogenicrs727503444GRCh37Chr 15, 43900289: 43900289
25TMPRSS3NM_ 024022.2(TMPRSS3): c.208delC (p.His70Thrfs)deletionPathogenicrs727503493GRCh37Chr 21, 43809152: 43809152
26TRIOBPNM_ 001039141.2(TRIOBP): c.6598C> T (p.Arg2200Ter)SNVPathogenicrs727503528GRCh37Chr 22, 38165057: 38165057
27GJB2NM_ 004004.5(GJB2): c.231G> A (p.Trp77Ter)SNVPathogenicrs80338944GRCh37Chr 13, 20763490: 20763490
28GJB2NM_ 004004.5(GJB2): c.71G> A (p.Trp24Ter)SNVPathogenicrs104894396GRCh37Chr 13, 20763650: 20763650
29GJB2NM_ 004004.5(GJB2): c.229T> C (p.Trp77Arg)SNVPathogenicrs104894397GRCh37Chr 13, 20763492: 20763492
30GJB2NM_ 004004.5(GJB2): c.35delG (p.Gly12Valfs)deletionPathogenicrs80338939GRCh37Chr 13, 20763686: 20763686
31GJB2NM_ 004004.5(GJB2): c.139G> T (p.Glu47Ter)SNVPathogenicrs104894398GRCh37Chr 13, 20763582: 20763582
32GJB2NM_ 004004.5(GJB2): c.358_ 360delGAG (p.Glu120del)deletionPathogenicrs80338947GRCh37Chr 13, 20763361: 20763363
33GJB2NM_ 004004.5(GJB2): c.551G> C (p.Arg184Pro)SNVPathogenic/ Likely pathogenicrs80338950GRCh37Chr 13, 20763170: 20763170
34GJB2NM_ 004004.5(GJB2): c.427C> T (p.Arg143Trp)SNVPathogenicrs80338948GRCh37Chr 13, 20763294: 20763294
35GJB2NM_ 004004.5(GJB2): c.223C> T (p.Arg75Trp)SNVPathogenicrs104894402GRCh37Chr 13, 20763498: 20763498
36GJB2NM_ 004004.5(GJB2): c.235delC (p.Leu79Cysfs)deletionPathogenicrs80338943GRCh37Chr 13, 20763486: 20763486
37GJB2NM_ 004004.5(GJB2): c.269T> C (p.Leu90Pro)SNVPathogenicrs80338945GRCh37Chr 13, 20763452: 20763452
38GJB2NM_ 004004.5(GJB2): c.109G> A (p.Val37Ile)SNVPathogenic/ Likely pathogenicrs72474224GRCh37Chr 13, 20763612: 20763612
39GJB2NM_ 004004.5(GJB2): c.224G> A (p.Arg75Gln)SNVPathogenicrs28931593GRCh37Chr 13, 20763497: 20763497
40GJB2NM_ 004004.5(GJB2): c.-23+1G> ASNVPathogenicrs80338940GRCh37Chr 13, 20766921: 20766921
41GJB2NM_ 004004.5(GJB2): c.250G> C (p.Val84Leu)SNVPathogenicrs104894409GRCh37Chr 13, 20763471: 20763471
42GJB2NM_ 004004.5(GJB2): c.250G> A (p.Val84Met)SNVPathogenicrs104894409GRCh37Chr 13, 20763471: 20763471
43GJB2NM_ 004004.5(GJB2): c.269dupT (p.Val91Serfs)duplicationPathogenic/ Likely pathogenicrs730880338GRCh38Chr 13, 20189313: 20189313
44TMPRSS3NM_ 024022.2(TMPRSS3): c.1192C> T (p.Gln398Ter)SNVPathogenicrs727504304GRCh38Chr 21, 42376543: 42376543
45MYO15ANM_ 016239.3(MYO15A): c.8714-1G> ASNVPathogenicrs377015931GRCh38Chr 17, 18157155: 18157155
46OTOFNM_ 194248.2(OTOF): c.2991+2T> GSNVPathogenicrs370132645GRCh37Chr 2, 26698780: 26698780
47OTOANC_ 000016.10: g.(?_ 21678515)_ (21760540_ ?)deldeletionPathogenicGRCh37Chr 16, 21689836: 21771861
48TMC1NM_ 138691.2(TMC1): c.22delA (p.Ile8Serfs)deletionPathogenicrs727504554GRCh37Chr 9, 75303630: 75303630
49KCNQ4NM_ 004700.3(KCNQ4): c.459delC (p.Ala154Profs)deletionPathogenicrs727504635GRCh38Chr 1, 40818217: 40818217
50OTOFNM_ 194248.2(OTOF): c.3178delG (p.Ala1060Glnfs)deletionPathogenicrs727504639GRCh37Chr 2, 26697491: 26697491
51RDXNM_ 002906.3(RDX): c.1308delG (p.Lys438Argfs)deletionPathogenicrs727504709GRCh38Chr 11, 110236135: 110236135
52MYO15ANM_ 016239.3(MYO15A): c.10136C> A (p.Ser3379Ter)SNVPathogenicrs546575046GRCh37Chr 17, 18075005: 18075005
53GIPC3NM_ 133261.2(GIPC3): c.279_ 295del17 (p.Gln95Leufs)deletionPathogenicrs727504771GRCh37Chr 19, 3586546: 3586562
54TMC1NM_ 138691.2(TMC1): c.215_ 219dupGGAGG (p.Arg74Glyfs)duplicationPathogenicrs730880359GRCh37Chr 9, 75309609: 75309613
55OTOFNM_ 194248.2(OTOF): c.2818C> T (p.Gln940Ter)SNVPathogenicrs727504936GRCh37Chr 2, 26699044: 26699044
56MYO15ANM_ 016239.3(MYO15A): c.5851delA (p.Ser1951Valfs)deletionPathogenicrs727504995GRCh38Chr 17, 18142781: 18142781
57STRCNM_ 153700.2(STRC): c.3484delT (p.Trp1162Glyfs)deletionPathogenicrs727505074GRCh37Chr 15, 43902524: 43902524
58LOXHD1NM_ 144612.6(LOXHD1): c.3169C> T (p.Arg1057Ter)SNVPathogenicrs727505104GRCh38Chr 18, 46559495: 46559495
59STRCNM_ 153700.2(STRC): c.4402C> T (p.Arg1468Ter)SNVPathogenicrs377480477GRCh37Chr 15, 43895583: 43895583
60LRTOMTNM_ 001145308.4(LRTOMT): c.358+4A> CSNVPathogenic/ Likely pathogenicrs545947177GRCh38Chr 11, 72106214: 72106214
61OTOFNM_ 194248.2(OTOF): c.2977_ 2978delAG (p.Gln994Valfs)deletionPathogenicrs397515597GRCh38Chr 2, 26475927: 26475928
62DFNA5NM_ 004403.2(DFNA5): c.991-15_ 991-13delTTCdeletionPathogenicrs727505273GRCh37Chr 7, 24746008: 24746010
63STRCNM_ 153700.2(STRC): c.(?_ 4376)-190_ (4845_ ?)-68deldeletionPathogenicGRCh37Chr 15, 43892948: 43895799
64ACTG1NM_ 001614.3(ACTG1): c.721G> A (p.Glu241Lys)SNVPathogenic/ Likely pathogenicrs267606631GRCh37Chr 17, 79478295: 79478295
65GJB2NM_ 004004.5(GJB2): c.208C> G (p.Pro70Ala)SNVPathogenicrs200023879GRCh37Chr 13, 20763513: 20763513
66GJB2NM_ 004004.5(GJB2): c.230G> A (p.Trp77Ter)SNVPathogenic/ Likely pathogenicrs104894395GRCh38Chr 13, 20189352: 20189352
67GJB2NM_ 004004.5(GJB2): c.35G> T (p.Gly12Val)SNVPathogenic/ Likely pathogenicrs1801002GRCh37Chr 13, 20763686: 20763686
68OTOFNM_ 194248.2(OTOF): c.2122C> T (p.Arg708Ter)SNVPathogenicrs80356590GRCh37Chr 2, 26702224: 26702224
69OTOFNM_ 194248.2(OTOF): c.2348delG (p.Gly783Alafs)deletionPathogenicrs80356591GRCh37Chr 2, 26700342: 26700342
70OTOGNM_ 001277269.1(OTOG): c.535delG (p.Val179Trpfs)deletionPathogenic/ Likely pathogenicrs876657657GRCh38Chr 11, 17553478: 17553478
71GIPC3NM_ 133261.2(GIPC3): c.411+1G> ASNVPathogenicrs876657692GRCh38Chr 19, 3586681: 3586681
72GJB2NM_ 004004.5(GJB2): c.523_ 533delCCCAACACTGT (p.Pro175Glyfs)deletionPathogenicrs876657693GRCh38Chr 13, 20189049: 20189059
73MARVELD2NM_ 001038603.2(MARVELD2): c.1331+1G> ASNVPathogenicrs762352115GRCh38Chr 5, 69432676: 69432676
74MYO15ANM_ 016239.3(MYO15A): c.1185dupC (p.Glu396Argfs)duplicationPathogenicrs876657707GRCh38Chr 17, 18119985: 18119985
75MYO15ANM_ 016239.3(MYO15A): c.5896C> T (p.Arg1966Ter)SNVPathogenicrs765468034GRCh37Chr 17, 18046140: 18046140
76MYO15ANM_ 016239.3(MYO15A): c.9303+1G> TSNVPathogenicrs876657708GRCh37Chr 17, 18062994: 18062994
77MYO6NM_ 004999.3(MYO6): c.2814_ 2815delAA (p.Arg939Thrfs)deletionPathogenicrs876657709GRCh37Chr 6, 76599929: 76599930
78MYO6NM_ 004999.3(MYO6): c.458C> G (p.Ser153Ter)SNVPathogenicrs876657710GRCh38Chr 6, 75832908: 75832908
79OTOANM_ 144672.3(OTOA): c.746_ 751delCTGCTTinsA (p.Ser249Tyrfs)indelPathogenicrs876657716GRCh38Chr 16, 21697781: 21697786
80OTOGLNM_ 173591.3(OTOGL): c.4987C> T (p.Arg1663Ter)SNVPathogenicrs759174628GRCh37Chr 12, 80733008: 80733008
81OTOGLNM_ 173591.3(OTOGL): c.948delG (p.Leu316Phefs)deletionPathogenicrs766753922GRCh38Chr 12, 80239362: 80239362
82POU3F4NM_ 000307.4(POU3F4): c.607_ 610delCAAA (p.Gln203Glufs)deletionPathogenicrs876657719GRCh38Chr X, 83508931: 83508934
83STRCNM_ 153700.2(STRC): c.(?_ 3499)-60_ (3557_ ?)+31deldeletionPathogenicGRCh37Chr 15, 43901443: 43901592
84STRCNM_ 153700.2(STRC): c.(?_ 4443)_ (4845_ ?)-68deldeletionPathogenicGRCh38Chr 15, 43600750: 43603344
85STRCNM_ 153700.2(STRC): c.1086C> A (p.Tyr362Ter)SNVPathogenicrs876657724GRCh38Chr 15, 43616480: 43616480
86STRCNM_ 153700.2(STRC): c.3217C> T (p.Arg1073Ter)SNVPathogenicrs876657725GRCh37Chr 15, 43903435: 43903435
87STRCNM_ 153700.2(STRC): c.3493C> T (p.Gln1165Ter)SNVPathogenicrs876657726GRCh37Chr 15, 43902515: 43902515
88TECTANM_ 005422.2(TECTA): c.5977C> T (p.Arg1993Ter)SNVPathogenicrs760574657GRCh38Chr 11, 121168903: 121168903
89TMC1NM_ 138691.2(TMC1): c.1236delT (p.Met413Cysfs)deletionPathogenicrs876657727GRCh37Chr 9, 75406813: 75406813
90TMC1NM_ 138691.2(TMC1): c.1676G> A (p.Trp559Ter)SNVPathogenicrs876657728GRCh37Chr 9, 75420407: 75420407
91TMC1NM_ 138691.2(TMC1): c.1677G> A (p.Trp559Ter)SNVPathogenicrs876657729GRCh37Chr 9, 75420408: 75420408
92CEACAM16NM_ 001039213.3(CEACAM16): c.703C> T (p.Arg235Cys)SNVPathogenicrs746164064GRCh38Chr 19, 44705631: 44705631
93USH2ANM_ 206933.2(USH2A): c.9685delG (p.Glu3229Argfs)deletionPathogenicrs878853233GRCh37Chr 1, 215987132: 215987132
94TMC1NM_ 138691.2(TMC1): c.1714G> A (p.Asp572Asn)SNVPathogenicrs121908072GRCh37Chr 9, 75431077: 75431077
95TMC1NM_ 138691.2(TMC1): c.100C> T (p.Arg34Ter)SNVPathogenicrs121908073GRCh37Chr 9, 75309494: 75309494
96POU3F4NM_ 000307.4(POU3F4): c.499C> T (p.Arg167Ter)SNVPathogenicrs111033345GRCh37Chr X, 82763831: 82763831
97POU3F4NM_ 000307.4(POU3F4): c.853_ 854delAT (p.Ile285Argfs)deletionPathogenicrs397516336GRCh37Chr X, 82764185: 82764186
98GJB2NM_ 004004.5(GJB2): c.169C> T (p.Gln57Ter)SNVPathogenicrs111033297GRCh37Chr 13, 20763552: 20763552
99GJB2NM_ 004004.5(GJB2): c.283G> A (p.Val95Met)SNVPathogenic/ Likely pathogenicrs111033299GRCh37Chr 13, 20763438: 20763438
100GJB2NM_ 004004.5(GJB2): c.299_ 300delAT (p.His100Argfs)deletionPathogenicrs111033204GRCh37Chr 13, 20763421: 20763422
101GJB2NM_ 004004.5(GJB2): c.313_ 326delAAGTTCATCAAGGG (p.Lys105Glyfs)deletionPathogenicrs111033253GRCh37Chr 13, 20763395: 20763408
102GJB2NM_ 004004.5(GJB2): c.31_ 68del38 (p.Gly11Leufs)deletionPathogenic/ Likely pathogenicrs397516873GRCh37Chr 13, 20763653: 20763690
103GJB2NM_ 004004.5(GJB2): c.365A> T (p.Lys122Ile)SNVPathogenic/ Likely pathogenicrs111033295GRCh37Chr 13, 20763356: 20763356
104GJB2NM_ 004004.5(GJB2): c.370C> T (p.Gln124Ter)SNVPathogenicrs397516874GRCh37Chr 13, 20763351: 20763351
105GJB2NM_ 004004.5(GJB2): c.416G> A (p.Ser139Asn)SNVPathogenic/ Likely pathogenicrs76434661GRCh37Chr 13, 20763305: 20763305
106GJB2NM_ 004004.5(GJB2): c.426C> A (p.Phe142Leu)SNVPathogenicrs397516877GRCh37Chr 13, 20763295: 20763295
107GJB2NM_ 004004.5(GJB2): c.44A> C (p.Lys15Thr)SNVPathogenic/ Likely pathogenicrs111033217GRCh37Chr 13, 20763677: 20763677
108GJB2NM_ 004004.5(GJB2): c.592_ 600delGTGTCTGGAinsCAGTGTTCATGACATTC (p.Val198Glnfs)indelPathogenicrs111033335GRCh37Chr 13, 20763121: 20763129
109GJB2NM_ 004004.5(GJB2): c.617A> G (p.Asn206Ser)SNVPathogenicrs111033294GRCh37Chr 13, 20763104: 20763104
110GJB2NM_ 004004.5(GJB2): c.95G> A (p.Arg32His)SNVPathogenicrs111033190GRCh37Chr 13, 20763626: 20763626
111MYO15ANM_ 016239.3(MYO15A): c.7006dupC (p.Gln2336Profs)duplicationPathogenicrs397517286GRCh37Chr 17, 18052579: 18052579
112MYO15ANM_ 016239.3(MYO15A): c.8100delC (p.Lys2701Argfs)deletionPathogenicrs397517287GRCh37Chr 17, 18057456: 18057456
113MYO15ANM_ 016239.3(MYO15A): c.8767C> T (p.Arg2923Ter)SNVPathogenicrs373462792GRCh37Chr 17, 18060523: 18060523
114TMPRSS3NM_ 024022.2(TMPRSS3): c.323-6G> ASNVPathogenicrs374793617GRCh37Chr 21, 43808641: 43808641
115TMPRSS3NM_ 024022.2(TMPRSS3): c.325C> T (p.Arg109Trp)SNVPathogenic/ Likely pathogenicrs201632198GRCh37Chr 21, 43808633: 43808633
116TMPRSS3NM_ 024022.2(TMPRSS3): c.413C> A (p.Ala138Glu)SNVPathogenic/ Likely pathogenicrs147231991GRCh37Chr 21, 43808545: 43808545
117TMPRSS3NM_ 024022.2(TMPRSS3): c.579dupA (p.Cys194Metfs)duplicationPathogenicrs397517376GRCh37Chr 21, 43804116: 43804116
118TMPRSS3NM_ 024022.2(TMPRSS3): c.916G> A (p.Ala306Thr)SNVPathogenicrs181949335GRCh37Chr 21, 43802210: 43802210
119LOXHD1NM_ 144612.6(LOXHD1): c.2497C> T (p.Arg833Ter)SNVPathogenicrs188119157GRCh37Chr 18, 44143129: 44143129
120OTOFNM_ 194248.2(OTOF): c.2153G> A (p.Trp718Ter)SNVPathogenicrs111033383GRCh38Chr 2, 26479325: 26479325
121PCDH15NM_ 033056.3(PCDH15): c.400C> G (p.Arg134Gly)SNVPathogenic/ Likely pathogenicrs137853003GRCh37Chr 10, 56128954: 56128954
122GJB6NM_ 006783.4(GJB6): c.31G> A (p.Gly11Arg)SNVPathogenicrs104894415GRCh37Chr 13, 20797589: 20797589
123OTOFNM_ 194248.2(OTOF): c.4491T> A (p.Tyr1497Ter)SNVPathogenicrs80356600GRCh37Chr 2, 26689591: 26689591
124OTOFNM_ 194248.2(OTOF): c.2485C> T (p.Gln829Ter)SNVPathogenicrs80356593GRCh37Chr 2, 26700078: 26700078
125KCNQ4NM_ 004700.3(KCNQ4): c.853G> A (p.Gly285Ser)SNVPathogenic/ Likely pathogenicrs28937588GRCh37Chr 1, 41285565: 41285565
126KCNQ4NM_ 004700.3(KCNQ4): c.827G> C (p.Trp276Ser)SNVPathogenicrs80358277GRCh37Chr 1, 41285137: 41285137
127OTOFNM_ 194248.2(OTOF): c.2239G> T (p.Glu747Ter)SNVPathogenicrs397515591GRCh37Chr 2, 26700593: 26700593
128COCHNM_ 004086.2(COCH): c.151C> T (p.Pro51Ser)SNVPathogenicrs28938175GRCh37Chr 14, 31346846: 31346846
129COCHNM_ 004086.2(COCH): c.1625G> T (p.Cys542Phe)SNVPathogenic/ Likely pathogenicrs121908932GRCh37Chr 14, 31358969: 31358969
130MYO6NM_ 004999.3(MYO6): c.737A> G (p.His246Arg)SNVPathogenic/ Likely pathogenicrs121912560GRCh37Chr 6, 76551016: 76551016

Expression for genes affiliated with Nonsyndromic Hearing Loss and Deafness

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

Pathways for genes affiliated with Nonsyndromic Hearing Loss and Deafness

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
10.2GJB2, GJB6, MYO6

GO Terms for genes affiliated with Nonsyndromic Hearing Loss and Deafness

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

idNameGO IDScoreTop Affiliating Genes
1connexin complexGO:000592210.7GJB2, GJB6
2apical plasma membraneGO:001632410.5GJB6, MARVELD2, OTOA, RDX
3stereociliumGO:003242010.2LOXHD1, MYO15A, RDX, STRC
4stereocilium tipGO:003242610.1CEACAM16, STRC, TMC1

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

idNameGO IDScoreTop Affiliating Genes
1barbed-end actin filament cappingGO:005101610.9RDX, TRIOBP
2detection of mechanical stimulus involved in sensory perception of soundGO:005091010.8STRC, TMC1
3establishment of endothelial barrierGO:006102810.8MARVELD2, RDX
4inner ear developmentGO:004883910.8GJB2, GJB6, POU3F4
5cell-matrix adhesionGO:000716010.7OTOA, STRC, TECTA
6sensory perception of soundGO:00076058.5CEACAM16, COCH, DFNA5, DFNB59, GJB2, GJB6

Sources for Nonsyndromic Hearing Loss and Deafness

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet