MCID: DFN102
MIFTS: 41

Deafness, Autosomal Dominant 3b malady

Genetic diseases, Ear diseases, Rare diseases, Neuronal diseases, Fetal diseases, Cardiovascular diseases categories
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Summaries for Deafness, Autosomal Dominant 3b

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MalaCards based summary: Deafness, Autosomal Dominant 3b, also known as autosomal dominant non-syndromic sensorineural hearing loss type dfna, is related to dfnb1 and sensorineural hearing loss, and has symptoms including An important gene associated with Deafness, Autosomal Dominant 3b is GJB6 (gap junction protein, beta 6, 30kDa), and among its related pathways are Gap junction trafficking and Cell adhesion Gap junctions. The compounds 10panx and gap 27 have been mentioned in the context of this disorder. Related mouse phenotypes are craniofacial and integument.

Descriptions from OMIM:46 612643, 612644, 613074, 613558, 614152 614211, 614614, 615629, 615649, 615654, 603964, 604717, 605192, 605583, 606012, 606282, 606346, 606451, 606705, 607017, 607197, 607453, 607683, 607841, 608224, 608372, 608394, 608641, 608645, 608652, 609129, 609965, 612431, 612642, 124900, 600101, 600652, 600965, 600994, 601316, 601317, 601369, 601412, 601543, 601544, 601868, 602459, 603622, 616044 more

Aliases & Classifications for Deafness, Autosomal Dominant 3b

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
See all sources

Deafness, Autosomal Dominant 3b, Aliases & Descriptions:

Name: Deafness, Autosomal Dominant 3b 46
Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna 48
Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna 48
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna 48
Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna 48
 
Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna 48
Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna 48
Autosomal Dominant Isolated Sensorineural Deafness Type Dfna 48
Autosomal Dominant Isolated Neurosensory Deafness Type Dfna 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
autosomal dominant non-syndromic sensorineural hearing loss type dfna:
Inheritance: Autosomal dominant; Age of onset: Childhood


Related Diseases for Deafness, Autosomal Dominant 3b

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Diseases in the Deafness, Autosomal Dominant 3b family:

Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 55
Deafness, Autosomal Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Dominant 2a
Deafness, Autosomal Recessive 32 Deafness, Autosomal Dominant 7
Deafness, Autosomal Dominant 49 Deafness, Autosomal Recessive 45
Deafness, Autosomal Recessive 9 Deafness, Autosomal Dominant 58
Deafness, Autosomal Recessive 70 Deafness, Autosomal Dominant 43
Deafness, Autosomal Recessive 88 Deafness, Autosomal Dominant 16
Deafness, Autosomal Recessive 27 Deafness, Autosomal Recessive 59
Deafness, Autosomal Recessive 6 Deafness, Autosomal Recessive 42
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 6/14/38 Deafness, Autosomal Recessive 25
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 26
Deafness, Autosomal Dominant 24 Deafness, Autosomal Recessive 49
Deafness, Autosomal Dominant 1 Deafness, Autosomal Dominant 54
Deafness, Autosomal Dominant 15 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 91
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 66
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 53
Deafness, Autosomal Dominant 31 Deafness, Autosomal Recessive 67
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 10 Deafness, Autosomal Recessive 38
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 39 Deafness, Autosomal Recessive 61
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 17
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 13
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 28
Deafness, Autosomal Recessive 83 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 31
Deafness, Autosomal Dominant 56 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 18a Deafness, Autosomal Recessive 18b
Deafness, Autosomal Dominant 59 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 63 Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 8/12
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 20 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 102 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Recessive 84b Deafness, Autosomal Dominant 25
Deafness, Autosomal Dominant 64 Deafness, Autosomal Dominant 41
Deafness, Autosomal Recessive 1a Deafness, Autosomal Dominant 3a
Deafness, Autosomal Recessive 1b Deafness, Autosomal Dominant 33
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 48 Deafness, Autosomal Dominant 30
Deafness , Autosomal Recessive 86 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 20/26
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 15 Deafness, Autosomal Recessive 68
Deafness, Autosomal Recessive 81 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 4b Deafness, Autosomal Dominant 4a
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 29
Deafness, Autosomal Recessive 8/10 Deafness, Autosomal Recessive 98
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 40
Deafness, Autosomal Recessive 28

Diseases related to Deafness, Autosomal Dominant 3b via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dfnb110.4GJB2
2sensorineural hearing loss10.4GJB3, GJB2
3clouston syndrome10.4GJB2, GJB3
4enlarged vestibular aqueduct10.4GJB3, GJB2
5nonepidermolytic palmoplantar keratoderma10.4GJB2, GJB3
6erythrokeratodermia variabilis10.3GJB3, GJB2
7palmoplantar keratosis10.2GJB3, GJB2
8nonsyndromic deafness10.0SLC17A8, GJB3, GJB2, CRYM, COCH, COL11A2

Graphical network of diseases related to Deafness, Autosomal Dominant 3b:



Diseases related to deafness, autosomal dominant 3b

Symptoms for Deafness, Autosomal Dominant 3b

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HPO human phenotypes related to Deafness, Autosomal Dominant 3b:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 adult onset sensorineural hearing impairment HP:0008615

Drugs & Therapeutics for Deafness, Autosomal Dominant 3b

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Drug clinical trials:

Search ClinicalTrials for Deafness, Autosomal Dominant 3b

Search NIH Clinical Center for Deafness, Autosomal Dominant 3b

Genetic Tests for Deafness, Autosomal Dominant 3b

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Anatomical Context for Deafness, Autosomal Dominant 3b

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Animal Models for Deafness, Autosomal Dominant 3b or affiliated genes

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Publications for Deafness, Autosomal Dominant 3b

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Variations for Deafness, Autosomal Dominant 3b

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UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 3b:

64
id Symbol AA change Variation ID SNP ID
1GJB6p.Thr5MetVAR_008711

Clinvar genetic disease variations for Deafness, Autosomal Dominant 3b:

6 (show all 104)
id Gene Name Type Significance SNP ID Assembly Location
1POU4F3POU4F3, 14-BP DEL, NT662deletionPathogenic
2CCDC50CCDC50, 8-BP DUPduplicationPathogenic
3MYO7AMYO7A, 9-BP DEL, EX22deletionPathogenic
4MYO7ANM_000260.3(MYO7A): c.1373A> T (p.Asn458Ile)single nucleotide variantPathogenicrs121965084GRCh37Chr 11, 76873195: 76873195
5GJB2NM_004004.5(GJB2): c.223C> T (p.Arg75Trp)single nucleotide variantPathogenicrs104894402GRCh37Chr 13, 20763498: 20763498
6GJB2NM_004004.5(GJB2): c.428G> A (p.Arg143Gln)single nucleotide variantPathogenicrs104894401GRCh37Chr 13, 20763293: 20763293
7GJB2NM_004004.5(GJB2): c.605G> T (p.Cys202Phe)single nucleotide variantPathogenicrs104894406GRCh37Chr 13, 20763116: 20763116
8GJB2NM_004004.5(GJB2): c.132G> C (p.Trp44Cys)single nucleotide variantPathogenicrs104894407GRCh37Chr 13, 20763589: 20763589
9GJB2NM_004004.5(GJB2): c.535G> A (p.Asp179Asn)single nucleotide variantPathogenicrs28931595GRCh37Chr 13, 20763186: 20763186
10GJB2NM_004004.5(GJB2): c.131G> C (p.Trp44Ser)single nucleotide variantPathogenicrs104894413GRCh37Chr 13, 20763590: 20763590
11COL11A2NM_080680.2(COL11A2): c.3100C> T (p.Arg1034Cys)single nucleotide variantPathogenicrs121912947GRCh37Chr 6, 33139540: 33139540
12COL11A2NM_080680.2(COL11A2): c.2423G> A (p.Gly808Glu)single nucleotide variantPathogenicrs121912948GRCh37Chr 6, 33142311: 33142311
13ACTG1NM_001614.3(ACTG1): c.266C> T (p.Thr89Ile)single nucleotide variantPathogenicrs28999111GRCh37Chr 17, 79479026: 79479026
14ACTG1NM_001614.3(ACTG1): c.353A> T (p.Lys118Met)single nucleotide variantPathogenicrs104894544GRCh37Chr 17, 79478939: 79478939
15ACTG1NM_001614.3(ACTG1): c.994C> G (p.Pro332Ala)single nucleotide variantPathogenicrs104894545GRCh37Chr 17, 79477850: 79477850
16ACTG1NM_001614.3(ACTG1): c.791C> T (p.Pro264Leu)single nucleotide variantPathogenicrs104894546GRCh37Chr 17, 79478225: 79478225
17ACTG1NM_001614.3(ACTG1): c.833C> T (p.Thr278Ile)single nucleotide variantPathogenicrs28999112GRCh37Chr 17, 79478104: 79478104
18ACTG1NM_001614.3(ACTG1): c.1109T> C (p.Val370Ala)single nucleotide variantPathogenicrs104894547GRCh37Chr 17, 79477735: 79477735
19ACTG1NM_001614.3(ACTG1): c.354G> C (p.Lys118Asn)single nucleotide variantPathogenicrs267606630GRCh37Chr 17, 79478938: 79478938
20ACTG1NM_001614.3(ACTG1): c.721G> A (p.Glu241Lys)single nucleotide variantPathogenicrs267606631GRCh37Chr 17, 79478295: 79478295
21DFNA5DFNA5, INV/DEL, EX8DELdeletionPathogenic
22DFNA5DFNA5, 3-BP DEL, IVS7, -17CTTdeletionPathogenic
23DFNA5DFNA5, IVS7, C-G, -6single nucleotide variantPathogenic
24DFNA5DFNA5, IVS8DS, A-G, +4single nucleotide variantPathogenic
25KCNQ4NM_004700.3(KCNQ4): c.546C> G (p.Phe182Leu)single nucleotide variantPathogenicrs80358273GRCh37Chr 1, 41284190: 41284190
26KCNQ4NM_004700.3(KCNQ4): c.778G> A (p.Glu260Lys)single nucleotide variantPathogenicrs80358274GRCh37Chr 1, 41285088: 41285088
27KCNQ4NM_004700.3(KCNQ4): c.785A> T (p.Asp262Val)single nucleotide variantPathogenicrs80358275GRCh37Chr 1, 41285095: 41285095
28GRHL2NM_024915.3(GRHL2): c.1609dupC (p.Arg537Profs)duplicationPathogenicrs398122997GRCh37Chr 8, 102656450: 102656450
29MYH14NM_001145809.1(MYH14): c.20C> A (p.Ser7Ter)single nucleotide variantPathogenicrs119103279GRCh37Chr 19, 50713642: 50713642
30MYH14NM_001145809.1(MYH14): c.3049C> T (p.Leu1017Phe)single nucleotide variantPathogenicrs28940306GRCh37Chr 19, 50774681: 50774681
31MYH14NM_001145809.1(MYH14): c.2299C> A (p.Arg767Ser)single nucleotide variantPathogenicrs28940307GRCh37Chr 19, 50762467: 50762467
32MYH14NM_001145809.1(MYH14): c.1150G> T (p.Gly384Cys)single nucleotide variantPathogenicrs119103280GRCh37Chr 19, 50747534: 50747534
33MYH14NM_001145809.1(MYH14): c.359C> T (p.Ser120Leu)single nucleotide variantPathogenicrs119103281GRCh37Chr 19, 50713981: 50713981
34GJB2NM_004004.5(GJB2): c.551G> A (p.Arg184Gln)single nucleotide variantPathogenicrs80338950GRCh37Chr 13, 20763170: 20763170
35MYO7ANM_000260.3(MYO7A): c.652G> A (p.Asp218Asn)single nucleotide variantPathogenicrs201539845GRCh37Chr 11, 76867967: 76867967
36MYO7ANM_000260.3(MYO7A): c.2011G> A (p.Gly671Ser)single nucleotide variantPathogenicrs387906699GRCh37Chr 11, 76885877: 76885877
37DIABLONM_019887.5(DIABLO): c.377C> T (p.Ser126Leu)single nucleotide variantPathogenicrs387906893GRCh37Chr 12, 122701355: 122701355
38SLC17A8NM_139319.2(SLC17A8): c.632C> T (p.Ala211Val)single nucleotide variantPathogenicrs121918339GRCh37Chr 12, 100790151: 100790151
39DIAPH3DIAPH3, -172G-Asingle nucleotide variantPathogenic
40CEACAM16NM_001039213.3(CEACAM16): c.418A> C (p.Thr140Pro)single nucleotide variantPathogenicrs387907149GRCh37Chr 19, 45207323: 45207323
41TMC1NM_138691.2(TMC1): c.1714G> A (p.Asp572Asn)single nucleotide variantPathogenicrs121908072GRCh37Chr 9, 75431077: 75431077
42TMC1NM_138691.2(TMC1): c.1714G> C (p.Asp572His)single nucleotide variantPathogenicrs121908072GRCh37Chr 9, 75431077: 75431077
43WFS1NM_006005.3(WFS1): c.2146G> A (p.Ala716Thr)single nucleotide variantPathogenicrs28937893GRCh37Chr 4, 6303668: 6303668
44WFS1NM_006005.3(WFS1): c.2486T> C (p.Leu829Pro)single nucleotide variantPathogenicrs104893883GRCh37Chr 4, 6304008: 6304008
45WFS1NM_006005.3(WFS1): c.2096C> T (p.Thr699Met)single nucleotide variantPathogenicrs28937894GRCh37Chr 4, 6303618: 6303618
46WFS1NM_006005.3(WFS1): c.2492G> A (p.Gly831Asp)single nucleotide variantPathogenicrs28937895GRCh37Chr 4, 6304014: 6304014
47WFS1NM_006005.3(WFS1): c.1901A> C (p.Lys634Thr)single nucleotide variantPathogenicrs104893882GRCh37Chr 4, 6303423: 6303423
48WFS1NM_006005.3(WFS1): c.2576G> A (p.Arg859Gln)single nucleotide variantPathogenicrs121912618GRCh37Chr 4, 6304098: 6304098
49GJB6NM_006783.4(GJB6): c.14C> T (p.Thr5Met)single nucleotide variantPathogenicrs104894414GRCh37Chr 13, 20797606: 20797606
50EYA4EYA4, 2-BP INS, 1468AAinsertionPathogenic
51EYA4EYA4, 2200C-Tsingle nucleotide variantPathogenic
52EYA4EYA4, 2-BP INS, 1490AAinsertionPathogenic
53EYA4EYA4, IVS14, 1282-12T-Asingle nucleotide variantPathogenic
54KCNQ4NM_004700.3(KCNQ4): c.853G> A (p.Gly285Ser)single nucleotide variantPathogenicrs28937588GRCh37Chr 1, 41285565: 41285565
55KCNQ4NM_004700.3(KCNQ4): c.827G> C (p.Trp276Ser)single nucleotide variantPathogenicrs80358277GRCh37Chr 1, 41285137: 41285137
56KCNQ4NM_004700.3(KCNQ4): c.961G> A (p.Gly321Ser)single nucleotide variantPathogenicrs28939710GRCh37Chr 1, 41285852: 41285852
57KCNQ4NM_004700.3(KCNQ4): c.853G> T (p.Gly285Cys)single nucleotide variantPathogenicrs28937588GRCh37Chr 1, 41285565: 41285565
58KCNQ4NM_004700.3(KCNQ4): c.211_223delCAGCGCTCCTCGG (p.Gln71Profs)deletionPathogenicrs80358271GRCh37Chr 1, 41249976: 41249988
59KCNQ4NM_004700.3(KCNQ4): c.842T> C (p.Leu281Ser)single nucleotide variantPathogenicrs80358278GRCh37Chr 1, 41285554: 41285554
60KCNQ4NM_004700.3(KCNQ4): c.821T> A (p.Leu274His)single nucleotide variantPathogenicrs80358276GRCh37Chr 1, 41285131: 41285131
61KCNQ4NM_004700.3(KCNQ4): c.211delC (p.Gln71Serfs)deletionPathogenicrs80358272GRCh37Chr 1, 41249976: 41249976
62KCNQ4NM_004700.3(KCNQ4): c.886G> A (p.Gly296Ser)single nucleotide variantPathogenicrs80358279GRCh37Chr 1, 41285598: 41285598
63GJB3NM_024009.2(GJB3): c.547G> A (p.Glu183Lys)single nucleotide variantPathogenicrs74315318GRCh37Chr 1, 35250910: 35250910
64GJB3NM_024009.2(GJB3): c.538C> T (p.Arg180Ter)single nucleotide variantPathogenicrs74315319GRCh37Chr 1, 35250901: 35250901
65GJB3GJB3, 3-BP DEL, 423ATTdeletionPathogenic
66GJB3NM_024009.2(GJB3): c.421A> G (p.Ile141Val)single nucleotide variantPathogenicrs74315320GRCh37Chr 1, 35250784: 35250784
67c.667_684del(664_681del)deletionPathogenic
68c.725G> Asingle nucleotide variantPathogenic
69c.859G> Csingle nucleotide variantPathogenic
70NM_004086.2(COCH): c.197T> G (p.Val66Gly)single nucleotide variantPathogenicrs121908927GRCh37Chr 14, 31346892: 31346892
71NM_004086.2(COCH): c.263G> A (p.Gly88Glu)single nucleotide variantPathogenicrs121908928GRCh37Chr 14, 31348040: 31348040
72NM_004086.2(COCH): c.349T> C (p.Trp117Arg)single nucleotide variantPathogenicrs121908929GRCh37Chr 14, 31348126: 31348126
73NM_004086.2(COCH): c.151C> T (p.Pro51Ser)single nucleotide variantPathogenicrs28938175GRCh37Chr 14, 31346846: 31346846
74NM_004086.2(COCH): c.326T> A (p.Ile109Asn)single nucleotide variantPathogenicrs121908930GRCh37Chr 14, 31348103: 31348103
75NM_004086.2(COCH): c.355G> A (p.Ala119Thr)single nucleotide variantPathogenicrs121908931GRCh37Chr 14, 31348132: 31348132
76NM_004086.2(COCH): c.1625G> T (p.Cys542Phe)single nucleotide variantPathogenicrs121908932GRCh37Chr 14, 31358969: 31358969
77NM_004086.2(COCH): c.1625G> A (p.Cys542Tyr)single nucleotide variantPathogenicrs121908932GRCh37Chr 14, 31358969: 31358969
78NM_004086.2(COCH): c.1535T> C (p.Met512Thr)single nucleotide variantPathogenicrs121908934GRCh37Chr 14, 31358879: 31358879
79TECTANM_005422.2(TECTA): c.5458C> T (p.Leu1820Phe)single nucleotide variantPathogenicrs281865415GRCh37Chr 11, 121037361: 121037361
80TECTANM_005422.2(TECTA): c.5609A> G (p.Tyr1870Cys)single nucleotide variantPathogenicrs121909058GRCh37Chr 11, 121038785: 121038785
81TECTANM_005422.2(TECTA): c.3169T> A (p.Cys1057Ser)single nucleotide variantPathogenicrs121909059GRCh37Chr 11, 121008357: 121008357
82TECTANM_005422.2(TECTA): c.4856G> C (p.Cys1619Ser)single nucleotide variantPathogenicrs121909060GRCh37Chr 11, 121031010: 121031010
83TECTANM_005422.2(TECTA): c.5509T> G (p.Cys1837Gly)single nucleotide variantPathogenicrs121909061GRCh37Chr 11, 121037412: 121037412
84TECTANM_005422.2(TECTA): c.6062G> A (p.Arg2021His)single nucleotide variantPathogenicrs121909062GRCh37Chr 11, 121058603: 121058603
85TECTANM_005422.2(TECTA): c.5668C> T (p.Arg1890Cys)single nucleotide variantPathogenicrs121909063GRCh37Chr 11, 121038844: 121038844
86TECTANM_005422.2(TECTA): c.5509T> C (p.Cys1837Arg)single nucleotide variantPathogenicrs121909061GRCh37Chr 11, 121037412: 121037412
87TECTATECTA, 5331G-Asingle nucleotide variantPathogenic
88POU4F3NM_002700.2(POU4F3): c.880_887delGCTATCCA (p.Ile295Thrfs)deletionPathogenicrs398124631GRCh37Chr 5, 145719870: 145719877
89POU4F3NM_002700.2(POU4F3): c.865C> T (p.Leu289Phe)single nucleotide variantPathogenicrs121909056GRCh37Chr 5, 145719855: 145719855
90POU4F3NM_002700.2(POU4F3): c.668T> C (p.Leu223Pro)single nucleotide variantPathogenicrs121909057GRCh37Chr 5, 145719658: 145719658
91DIAPH1DIAPH1, IVS17DS, G-T, +1single nucleotide variantPathogenic
92MYO1ANM_005379.3(MYO1A): c.277C> T (p.Arg93Ter)single nucleotide variantPathogenicrs121909305GRCh37Chr 12, 57441459: 57441459
93MYO1AMYO1A, 3-BP INS, 349CTTinsertionPathogenic
94MYO1ANM_005379.3(MYO1A): c.916G> A (p.Val306Met)single nucleotide variantPathogenicrs55679042GRCh37Chr 12, 57437119: 57437119
95MYO1ANM_005379.3(MYO1A): c.1155G> T (p.Glu385Asp)single nucleotide variantPathogenicrs61753849GRCh37Chr 12, 57435225: 57435225
96MYO1ANM_005379.3(MYO1A): c.1985G> A (p.Gly662Glu)single nucleotide variantPathogenicrs33962952GRCh37Chr 12, 57431402: 57431402
97MYO1ANM_005379.3(MYO1A): c.2728T> C (p.Ser910Pro)single nucleotide variantPathogenicrs121909306GRCh37Chr 12, 57423368: 57423368
98SIX1NM_005982.3(SIX1): c.397_399delGAG (p.Glu133del)deletionPathogenicrs80356460GRCh37Chr 14, 61115509: 61115511
99MIR96NR_029512.1(MIR96): n.13G> Asingle nucleotide variantPathogenicGRCh37Chr 7, 129414597: 129414597
100MIR96NR_029512.1(MIR96): n.14C> Asingle nucleotide variantPathogenicGRCh37Chr 7, 129414596: 129414596
101GRHL2NM_024915.3(GRHL2): c.1258-1G> Asingle nucleotide variantPathogenicrs398123006GRCh37Chr 8, 102643864: 102643864
102POU4F3NM_002700.2(POU4F3): c.977G> A (p.Arg326Lys)single nucleotide variantPathogenicrs398123070GRCh37Chr 5, 145719967: 145719967
103TNCNM_002160.3(TNC): c.5317G> A (p.Val1773Met)single nucleotide variantPathogenicrs137933052GRCh37Chr 9, 117803295: 117803295
104TNCNM_002160.3(TNC): c.5386A> T (p.Thr1796Ser)single nucleotide variantPathogenicrs431905513GRCh37Chr 9, 117803226: 117803226

Expression for genes affiliated with Deafness, Autosomal Dominant 3b

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Expression patterns in normal tissues for genes affiliated with Deafness, Autosomal Dominant 3b

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 3b.

Pathways for genes affiliated with Deafness, Autosomal Dominant 3b

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Pathways related to Deafness, Autosomal Dominant 3b according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.2GJB3, GJB2
210.1GJB3, GJB2, ACTG1
3
Show member pathways
Calcium Regulation in the Cardiac Cell37
10.1GJB3, GJB2, ACTG1
4
Show member pathways
10.1ACTG1, GJB2, GJB3
5
Show member pathways
Apoptosis and survival TNFR1 signaling pathway60
TWEAK Signaling Pathway37
Apoptosis Modulation by HSP7037
HIV-1 Nef- Negative effector of Fas and TNF-alpha37
9.9ACTG1, DIABLO, SHH

Compounds for genes affiliated with Deafness, Autosomal Dominant 3b

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Compounds related to Deafness, Autosomal Dominant 3b according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
110panx6110.4GJB3, GJB2
2gap 276110.4GJB2, GJB3
3carbenoxolone disodium6110.4GJB2, GJB3
4scrambled 10panx6110.3GJB2, GJB3
5octanol28 2411.3GJB3, GJB2
6flufenamic acid28 44 2 1113.2GJB3, GJB2
7carbenoxolone44 28 1112.1GJB3, GJB2
8ca2+289.9GJB3, GJB2
9atp44 2810.1CYP27A1, DIABLO, P2RX2, CRYM, GJB2

GO Terms for genes affiliated with Deafness, Autosomal Dominant 3b

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Cellular components related to Deafness, Autosomal Dominant 3b according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1connexon complexGO:00592210.2GJB3, GJB2

Biological processes related to Deafness, Autosomal Dominant 3b according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of mesenchymal cell proliferation involved in ureter developmentGO:200072910.2SHH, SIX1
2male genitalia developmentGO:03053910.2GJB2, SHH
3thyroid gland developmentGO:03087810.1SIX1, SHH
4inner ear developmentGO:04883910.1SIX1, SHH
5protein localization to nucleusGO:03450410.0SHH, SIX1
6thymus developmentGO:0485389.8SIX1, SHH
7sensory perception of soundGO:0076058.3SLC17A8, DIAPH1, P2RX2, CEACAM16, WFS1, COL11A2

Molecular functions related to Deafness, Autosomal Dominant 3b according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:00524310.2GJB3, GJB2

Products for genes affiliated with Deafness, Autosomal Dominant 3b

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  • Antibodies
  • Proteins
  • Lysates

Sources for Deafness, Autosomal Dominant 3b

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet