DFNA3B
MCID: DFN102
MIFTS: 37

Deafness, Autosomal Dominant 3b (DFNA3B)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness, Autosomal Dominant 3b

MalaCards integrated aliases for Deafness, Autosomal Dominant 3b:

Name: Deafness, Autosomal Dominant 3b 57 29 13 6 70
Dfna3b 57 12 72
Autosomal Dominant Nonsyndromic Deafness 3b 12 15
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3b 72
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3b 72
Deafness, Autosomal Dominant, Type 3b 39
Deafness, Autosomal Dominant, 3b 72
Autosomal Dominant Deafness 3b 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
one italian family has been described (last curated august 2015)


HPO:

31
deafness, autosomal dominant 3b:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110565
OMIM® 57 612643
OMIM Phenotypic Series 57 PS124900
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C2675237
SNOMED-CT via HPO 68 263681008
UMLS 70 C2675237

Summaries for Deafness, Autosomal Dominant 3b

UniProtKB/Swiss-Prot : 72 Deafness, autosomal dominant, 3B: A form of non-syndromic sensorineural hearing loss characterized by a variable phenotype, ranging from bilateral middle to high frequency hearing loss to profound sensorineural deafness. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

MalaCards based summary : Deafness, Autosomal Dominant 3b, also known as dfna3b, is related to nonsyndromic hearing loss and deafness, dfna3 and purulent labyrinthitis. An important gene associated with Deafness, Autosomal Dominant 3b is GJB6 (Gap Junction Protein Beta 6), and among its related pathways/superpathways are Myometrial Relaxation and Contraction Pathways and Gap junction trafficking. Affiliated tissues include skin, and related phenotypes are adult onset sensorineural hearing impairment and hearing/vestibular/ear

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that has material basis in mutation in the GJB6 gene on chromosome 13q12.

More information from OMIM: 612643 PS124900

Related Diseases for Deafness, Autosomal Dominant 3b

Diseases in the Rare Deafness family:

Deafness, Autosomal Recessive 1a Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 3
Deafness, Autosomal Dominant 4a Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 6 Deafness, Autosomal Recessive 6
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 9 Deafness, Autosomal Recessive 8
Deafness, Autosomal Dominant 10 Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 9 Deafness, Autosomal Recessive 12
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 13
Deafness, Autosomal Recessive 15 Deafness, Autosomal Recessive 18a
Deafness, Autosomal Dominant 15 Deafness, Autosomal Recessive 17
Deafness, Autosomal Recessive 13 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 16 Deafness, Autosomal Dominant 16
Deafness, Autosomal Recessive 20 Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 23 Deafness, Autosomal Recessive 26
Deafness, Autosomal Dominant 25 Deafness, Autosomal Recessive 27
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 24
Deafness, Autosomal Dominant 22 Deafness, Autosomal Dominant 30
Deafness, Autosomal Dominant 36 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 22 Deafness, Autosomal Recessive 31
Deafness, Autosomal Recessive 30 Deafness, Autosomal Recessive
Deafness, Autosomal Recessive 33 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 52 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 48 Deafness, Autosomal Recessive 38
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 40
Deafness, Autosomal Recessive 39 Deafness, Autosomal Dominant 49
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 35
Deafness, Autosomal Dominant 28 Deafness, Autosomal Dominant 31
Deafness, Autosomal Dominant 47 Deafness, Autosomal Recessive 48
Deafness, Autosomal Recessive 23 Deafness, Autosomal Recessive 42
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 28 Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 47 Deafness, Autosomal Recessive 55
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 49 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 66 Deafness, Autosomal Recessive 59
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 63 Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 45 Deafness, Autosomal Dominant 59
Deafness, Autosomal Dominant 3b Deafness, Autosomal Dominant 2b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Recessive 71
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 25 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 51
Deafness, Autosomal Recessive 83 Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 89
Deafness, Autosomal Recessive 29 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 33 Deafness, Autosomal Recessive 96
Deafness, Autosomal Dominant 4b Deafness, Autosomal Recessive 86
Deafness, Autosomal Recessive 98 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 70 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Recessive 18b Deafness, Autosomal Recessive 88
Deafness, Autosomal Recessive 76 Deafness, Autosomal Dominant 56
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 58
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 102
Deafness, Autosomal Recessive 103 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 67 Deafness, Autosomal Dominant 40
Deafness, Autosomal Recessive 104 Deafness, Autosomal Dominant 69
Deafness, Autosomal Recessive 97 Deafness, Autosomal Dominant 68
Deafness, Autosomal Dominant 70 Deafness, Autosomal Dominant 66
Deafness, Autosomal Dominant 71 Deafness, Autosomal Dominant 72
Deafness, Autosomal Recessive 106 Deafness, Autosomal Recessive 107
Deafness, Autosomal Recessive 108 Deafness, Autosomal Dominant 73
Deafness, Autosomal Recessive 57 Deafness, Autosomal Recessive 109
Deafness, Autosomal Recessive 110 Deafness, Autosomal Dominant 74
Deafness, Autosomal Recessive 111 Deafness, Autosomal Recessive 112
Deafness, Autosomal Recessive 113 Deafness, Autosomal Recessive 100
Deafness, Autosomal Recessive 94 Deafness, Autosomal Recessive 114
Deafness, Autosomal Recessive 115 Deafness, Autosomal Recessive 99
Deafness, Autosomal Dominant 37 Deafness, Autosomal Dominant 75
Deafness, Autosomal Dominant 76 Deafness, Autosomal Dominant 77
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 106 Autosomal Recessive Nonsyndromic Deafness 107
Autosomal Recessive Nonsyndromic Deafness 108 Autosomal Dominant Nonsyndromic Deafness 71
Autosomal Dominant Nonsyndromic Deafness 72 Autosomal Dominant Nonsyndromic Deafness 73
Autosomal Dominant Nonsyndromic Deafness 34 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Dominant Nonsyndromic Deafness 78 Autosomal Dominant Nonsyndromic Deafness 79
Autosomal Recessive Nonsyndromic Deafness 116 Autosomal Dominant Nonsyndromic Deafness 74
Autosomal Dominant Nonsyndromic Deafness 75 Autosomal Dominant Nonsyndromic Deafness 76
Autosomal Dominant Nonsyndromic Deafness 77 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

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

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic hearing loss and deafness, dfna3 10.2 GJB6 GJB2
2 purulent labyrinthitis 10.2 GJB6 GJB2
3 labyrinthitis 10.2 GJB6 GJB2
4 viral labyrinthitis 10.2 GJB6 GJB2
5 hypotrichosis-deafness syndrome 10.2 GJB3 GJB2
6 congenital cytomegalovirus 10.2 GJB6 GJB2
7 hereditary lymphedema ic 10.2 GJB3 GJB2
8 erythrokeratoderma 10.1 GJB3 GJB2
9 deafness, autosomal dominant 2b 10.1 GJB3 GJB2
10 drug-induced hearing loss 10.1 GJB3 GJB2
11 keratitis-ichthyosis-deafness syndrome, autosomal dominant 10.1 GJB6 GJB2
12 autosomal recessive nonsyndromic deafness 3 10.1 TPRN GJB2
13 deafness, autosomal dominant 64 10.1 GJB2 CEACAM16
14 palmoplantar keratosis 10.1 GJB3 GJB2
15 deafness, autosomal dominant 1, with or without thrombocytopenia 10.1 TPRN GJB2
16 deafness, autosomal recessive 39 10.0 OTOA GJB2
17 nevus, epidermal 10.0 GJB3 GJB2
18 branchiootorenal syndrome 10.0 GJB6 GJB2
19 deafness, autosomal recessive 61 10.0 TPRN OTOA
20 pendred syndrome 10.0 GJB6 GJB2
21 pseudoainhum 10.0 GJB6 GJB3 GJB2
22 nonsyndromic hearing loss and deafness, dfnb1 10.0 GJB6 GJB3 GJB2
23 dfnb1 10.0 GJB6 GJB3 GJB2
24 deafness, autosomal recessive 28 10.0 TPRN OTOA
25 deafness, autosomal dominant 3a 10.0 GJB6 GJB3 GJB2
26 knuckle pads 10.0 GJB6 GJB3 GJB2
27 bart-pumphrey syndrome 10.0 GJB6 GJB3 GJB2
28 keratoderma, palmoplantar, with deafness 10.0 GJB6 GJB3 GJB2
29 palmoplantar keratoderma and congenital alopecia 1 10.0 GJB6 GJB3 GJB2
30 deafness, x-linked 3 10.0 TPRN SMPX
31 vestibular disease 10.0 GJB6 GJB3 GJB2
32 deafness, autosomal dominant 9 10.0 GJB6 GJB3 GJB2
33 clouston syndrome 10.0 GJB6 GJB3 GJB2
34 oculodentodigital dysplasia 10.0 GJB6 GJB3 GJB2
35 vohwinkel syndrome 10.0 GJB6 GJB3 GJB2
36 inner ear disease 10.0 GJB6 GJB3 GJB2
37 non-syndromic genetic deafness 10.0 GJB2 CEACAM16
38 postaxial acrofacial dysostosis 10.0 TPRN CEACAM16
39 deafness, autosomal recessive 7 10.0 LHFPL5 GJB2
40 deafness, autosomal dominant 20 10.0 TPRN SMPX
41 waardenburg's syndrome 9.9 GJB6 GJB2
42 usher syndrome, type iia 9.9 OTOA GJB2
43 ectodermal dysplasia 9.9 GJB6 GJB3 GJB2
44 deafness, autosomal recessive 77 9.9 LHFPL5 GJB2
45 deafness, autosomal recessive 6 9.9 OTOA LHFPL5
46 deafness, autosomal recessive 85 9.9 OTOA LHFPL5
47 deafness, autosomal recessive 83 9.8 OTOA LHFPL5
48 deafness, autosomal dominant 36 9.8 LHFPL5 GJB2
49 deafness, autosomal dominant 12 9.8 OTOA GJB3 CEACAM16
50 deafness, autosomal recessive 53 9.8 LHFPL5 CEACAM16

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 3b:



Diseases related to Deafness, Autosomal Dominant 3b

Symptoms & Phenotypes for Deafness, Autosomal Dominant 3b

Human phenotypes related to Deafness, Autosomal Dominant 3b:

31
# Description HPO Frequency HPO Source Accession
1 adult onset sensorineural hearing impairment 31 HP:0008615

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, bilateral (middle-to-high frequency)

Clinical features from OMIM®:

612643 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 3b:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.5 CEACAM16 GJB2 GJB3 GJB6 LHFPL5 OTOA
2 no phenotypic analysis MP:0003012 8.92 GJB2 GJB3 GJB6 SMPX

Drugs & Therapeutics for Deafness, Autosomal Dominant 3b

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 3b

Genetic Tests for Deafness, Autosomal Dominant 3b

Genetic tests related to Deafness, Autosomal Dominant 3b:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 3b 29 GJB6

Anatomical Context for Deafness, Autosomal Dominant 3b

MalaCards organs/tissues related to Deafness, Autosomal Dominant 3b:

40
Skin

Publications for Deafness, Autosomal Dominant 3b

Articles related to Deafness, Autosomal Dominant 3b:

(show all 18)
# Title Authors PMID Year
1
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. 57 6
10471490 1999
2
[A gene study of a family with hidrotic ectodermal dysplasia]. 6
27817781 2016
3
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia. 6
27137747 2016
4
Immune system disturbances in Clouston syndrome. 6
26551294 2016
5
A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia. 6
24514865 2014
6
The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice. 6
24685692 2014
7
Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies. 6
24522190 2014
8
Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia. 6
23863883 2013
9
Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia. 6
23981984 2013
10
[Mutation analysis and first-trimester prenatal diagnosis for a Chinese family with hidrotic ectodermal dysplasia]. 6
23926005 2013
11
The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice. 6
20858605 2010
12
Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan. 6
17259707 2007
13
Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis. 6
15769851 2005
14
Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity. 6
15213106 2004
15
Clouston syndrome can mimic pachyonychia congenita. 6
14708603 2003
16
A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia. 6
12788524 2003
17
Functional studies of human skin disease- and deafness-associated connexin 30 mutations. 6
12419304 2002
18
Mutations in GJB6 cause hidrotic ectodermal dysplasia. 6
11017065 2000

Variations for Deafness, Autosomal Dominant 3b

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

6 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJB6 NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) SNV Pathogenic 5545 rs28937872 GRCh37: 13:20797357-20797357
GRCh38: 13:20223218-20223218
2 GJB6 NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) SNV Pathogenic 5544 rs104894415 GRCh37: 13:20797589-20797589
GRCh38: 13:20223450-20223450
3 GJB6 NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) SNV Pathogenic 5544 rs104894415 GRCh37: 13:20797589-20797589
GRCh38: 13:20223450-20223450
4 GJB6 NM_001110219.3(GJB6):c.14C>T (p.Thr5Met) SNV Pathogenic 5543 rs104894414 GRCh37: 13:20797606-20797606
GRCh38: 13:20223467-20223467
5 GJB6 NM_001110219.3(GJB6):c.119C>T (p.Ala40Val) SNV Pathogenic 424855 rs780320724 GRCh37: 13:20797501-20797501
GRCh38: 13:20223362-20223362
6 GJB6 NM_001110219.3(GJB6):c.346A>T (p.Lys116Ter) SNV Pathogenic 1031676 GRCh37: 13:20797274-20797274
GRCh38: 13:20223135-20223135
7 GJB6 NM_001110219.3(GJB6):c.63del (p.Lys22fs) Deletion Pathogenic 311382 rs770612890 GRCh37: 13:20797557-20797557
GRCh38: 13:20223418-20223418
8 GJB6 NM_001110219.3(GJB6):c.689dup (p.Asn230fs) Duplication Pathogenic 95435 rs398124237 GRCh37: 13:20796930-20796931
GRCh38: 13:20222791-20222792
9 GJB6 NM_001110219.3(GJB6):c.352A>G (p.Ile118Val) SNV Uncertain significance 1043052 GRCh37: 13:20797268-20797268
GRCh38: 13:20223129-20223129
10 GJB6 NM_001110219.3(GJB6):c.228del (p.Trp77fs) Deletion Uncertain significance 837505 GRCh37: 13:20797392-20797392
GRCh38: 13:20223253-20223253
11 GJB6 NM_001110219.3(GJB6):c.63del (p.Lys22fs) Deletion Uncertain significance 311382 rs770612890 GRCh37: 13:20797557-20797557
GRCh38: 13:20223418-20223418
12 GJB6 NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe) SNV Uncertain significance 426683 rs750540794 GRCh37: 13:20797441-20797441
GRCh38: 13:20223302-20223302
13 GJB6 NM_001110219.3(GJB6):c.301G>A (p.Glu101Lys) SNV Uncertain significance 225377 rs571454176 GRCh37: 13:20797319-20797319
GRCh38: 13:20223180-20223180
14 GJB6 NM_001110219.3(GJB6):c.631T>G (p.Cys211Gly) SNV Uncertain significance 536989 rs141752846 GRCh37: 13:20796989-20796989
GRCh38: 13:20222850-20222850
15 GJB6 NM_001110219.3(GJB6):c.518C>T (p.Pro173Leu) SNV Uncertain significance 969013 GRCh37: 13:20797102-20797102
GRCh38: 13:20222963-20222963
16 overlap with 10 genes NC_000013.10:g.(?_20716100)_(21398980_?)dup Duplication Uncertain significance 656832 GRCh37: 13:20716100-21398980
GRCh38: 13:20141961-20824841
17 GJB6 NM_001110219.3(GJB6):c.301G>C (p.Glu101Gln) SNV Uncertain significance 663718 rs571454176 GRCh37: 13:20797319-20797319
GRCh38: 13:20223180-20223180
18 GJB6 NM_001110219.3(GJB6):c.60C>T (p.Ile20=) SNV Likely benign 311383 rs778513540 GRCh37: 13:20797560-20797560
GRCh38: 13:20223421-20223421
19 GJB6 NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser) SNV Likely benign 45502 rs35277762 GRCh37: 13:20797144-20797144
GRCh38: 13:20223005-20223005
20 GJB6 NM_001110219.3(GJB6):c.177A>G (p.Gly59=) SNV Likely benign 196442 rs371123633 GRCh37: 13:20797443-20797443
GRCh38: 13:20223304-20223304
21 GJB6 NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys) SNV Benign 188490 rs143766955 GRCh37: 13:20797281-20797281
GRCh38: 13:20223142-20223142
22 GJB6 NM_001110219.3(GJB6):c.489G>A (p.Leu163=) SNV Benign 45503 rs35002004 GRCh37: 13:20797131-20797131
GRCh38: 13:20222992-20222992
23 GJB6 NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) SNV Benign 45504 rs111033338 GRCh37: 13:20797025-20797025
GRCh38: 13:20222886-20222886

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

72
# Symbol AA change Variation ID SNP ID
1 GJB6 p.Thr5Met VAR_008711 rs104894414

Expression for Deafness, Autosomal Dominant 3b

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

Pathways for Deafness, Autosomal Dominant 3b

Pathways related to Deafness, Autosomal Dominant 3b according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.62 GJB6 GJB3 GJB2
2
Show member pathways
10.79 GJB6 GJB3 GJB2

GO Terms for Deafness, Autosomal Dominant 3b

Cellular components related to Deafness, Autosomal Dominant 3b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.43 OTOA LHFPL5 GJB6
2 stereocilium tip GO:0032426 9.16 LHFPL5 CEACAM16
3 gap junction GO:0005921 9.13 GJB6 GJB3 GJB2
4 connexin complex GO:0005922 8.8 GJB6 GJB3 GJB2

Biological processes related to Deafness, Autosomal Dominant 3b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.58 GJB6 GJB3 GJB2
2 inner ear development GO:0048839 9.43 GJB6 GJB2
3 auditory receptor cell stereocilium organization GO:0060088 9.37 TPRN LHFPL5
4 gap junction assembly GO:0016264 9.32 GJB6 GJB2
5 cell communication by electrical coupling GO:0010644 9.26 GJB6 GJB2
6 gap junction-mediated intercellular transport GO:1990349 9.16 GJB6 GJB2
7 cell communication GO:0007154 9.13 GJB6 GJB3 GJB2
8 sensory perception of sound GO:0007605 9.1 TPRN OTOA LHFPL5 GJB6 GJB2 CEACAM16

Molecular functions related to Deafness, Autosomal Dominant 3b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 8.96 GJB6 GJB2
2 gap junction channel activity GO:0005243 8.8 GJB6 GJB3 GJB2

Sources for Deafness, Autosomal Dominant 3b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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