DFNA3A
MCID: DFN098
MIFTS: 40

Deafness, Autosomal Dominant 3a (DFNA3A)

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

Aliases & Classifications for Deafness, Autosomal Dominant 3a

MalaCards integrated aliases for Deafness, Autosomal Dominant 3a:

Name: Deafness, Autosomal Dominant 3a 56 29 13 6 71
Dfna3a 56 12 73
Autosomal Dominant Nonsyndromic Deafness 3a 12 15
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3a 73
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3a 73
Deafness, Autosomal Dominant, Type 3a 39
Deafness, Autosomal Dominant, 3a 73
Autosomal Dominant Deafness 3a 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in late childhood


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110564
OMIM 56 601544
OMIM Phenotypic Series 56 PS124900
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C2675750
SNOMED-CT via HPO 68 263681008 60700002
UMLS 71 C2675750

Summaries for Deafness, Autosomal Dominant 3a

UniProtKB/Swiss-Prot : 73 Deafness, autosomal dominant, 3A: A form of non-syndromic sensorineural hearing loss. 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 3a, also known as dfna3a, is related to spinocerebellar ataxia 34 and nonsyndromic hearing loss and deafness, dfna3. An important gene associated with Deafness, Autosomal Dominant 3a is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are G-Beta Gamma Signaling and Myometrial Relaxation and Contraction Pathways. Affiliated tissues include brain and skin, and related phenotypes are sensorineural hearing impairment and cardiovascular system

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has material basis in mutation in the GJB2 gene on chromosome 13q12.

More information from OMIM: 601544 PS124900

Related Diseases for Deafness, Autosomal Dominant 3a

Diseases in the Rare Deafness family:

Deafness, Autosomal Dominant 1 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
Nonsyndromic Deafness 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 Otof-Related Deafness
Familial Deafness

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

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 34 10.2 GJB4 GJB3
2 nonsyndromic hearing loss and deafness, dfna3 10.2 GJB6 GJB2
3 deafness, autosomal dominant 4b 10.2 GJB3 GJB2
4 deafness, autosomal dominant 24 10.2 GJB6 GJB2
5 purulent labyrinthitis 10.1 GJB6 GJB2
6 viral labyrinthitis 10.1 GJB6 GJB2
7 congenital cytomegalovirus 10.1 GJB6 GJB2
8 deafness, x-linked 2 10.1 GJB6 GJB2
9 non-syndromic genetic deafness 10.1 GJB2 COCH
10 keratitis-ichthyosis-deafness syndrome, autosomal dominant 10.1 GJB6 GJB2
11 deafness, autosomal dominant 64 10.1 GJB6 GJB2
12 cogan syndrome 10.1 GJB2 COCH
13 deafness, autosomal dominant 59 10.1 GJB6 GJB2
14 deafness, autosomal dominant 2a 10.1 GJB2 COCH
15 vohwinkel syndrome 10.1 GJB6 GJB2
16 deafness, autosomal dominant 56 10.1 GJB2 COCH
17 hypotrichosis 10.1 GJB4 GJB3 GJB2
18 hypotrichosis-deafness syndrome 10.0 GJB4 GJB3 GJB2
19 erythrokeratoderma 10.0 GJB4 GJB3 GJB2
20 hereditary lymphedema ic 10.0 GJB4 GJB3 GJB2
21 deafness, autosomal dominant 13 10.0 GSDME COCH
22 peripheral vertigo 10.0 GJB2 COCH
23 waardenburg syndrome, type 1 10.0 GSDME GJB2
24 deafness, autosomal dominant 41 10.0 GSDME COCH
25 deafness, autosomal dominant 17 10.0 GSDME COCH
26 deafness, autosomal dominant 15 9.9 GSDME COCH
27 deafness, autosomal dominant 12 9.9 GSDME COCH
28 nonsyndromic hearing loss and deafness, dfnb1 9.9 GJB6 GJB3 GJB2
29 dfnb1 9.9 GJB6 GJB3 GJB2
30 deafness, autosomal recessive 1b 9.9 GJB6 GJB3 GJB2
31 deafness, autosomal recessive 12 9.9 GJB6 GJB2
32 deafness, autosomal dominant 3b 9.9 GJB6 GJB3 GJB2
33 hodgkin's lymphoma, nodular sclerosis 9.9 GJB6 GJB3 GJB2
34 deafness, autosomal dominant 10 9.9 GSDME GRHL2
35 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.9 GJB6 GJB3 GJB2
36 branchiootorenal syndrome 9.9 GJB6 GJB2
37 deafness, autosomal dominant 9 9.8 GSDME GJB2 COCH
38 deafness, autosomal dominant 6 9.8 GSDME GJB2 COCH
39 deafness, autosomal dominant 25 9.8 GSDME GJB2 COCH
40 deafness, autosomal dominant 11 9.8 GSDME GJB2 COCH
41 x-linked nonsyndromic deafness 9.8 GSDME GJB6 GJB2
42 labyrinthitis 9.8 GJB6 GJB2 COCH
43 keratitis, hereditary 9.8 GJB6 GJB2
44 otosclerosis 9.7 GJB6 GJB2 COCH
45 pseudoainhum 9.7 GJB6 GJB4 GJB3 GJB2
46 deafness, autosomal dominant 2b 9.7 GSDME GJB3 GJB2 CRYM
47 knuckle pads 9.7 GJB6 GJB4 GJB3 GJB2
48 knuckle pads, leukonychia, and sensorineural deafness 9.7 GJB6 GJB4 GJB3 GJB2
49 clouston syndrome 9.7 GJB6 GJB4 GJB3 GJB2
50 oculodentodigital dysplasia 9.6 GJB6 GJB4 GJB3 GJB2

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



Diseases related to Deafness, Autosomal Dominant 3a

Symptoms & Phenotypes for Deafness, Autosomal Dominant 3a

Human phenotypes related to Deafness, Autosomal Dominant 3a:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
deafness, neurosensory

Clinical features from OMIM:

601544

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.5 ATP6V1B1 CRYM GJB2 GJB3 GJB4 GJB6
2 hearing/vestibular/ear MP:0005377 9.17 ATP6V1B1 COCH CRYM GJB2 GJB3 GJB6

Drugs & Therapeutics for Deafness, Autosomal Dominant 3a

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

Genetic Tests for Deafness, Autosomal Dominant 3a

Genetic tests related to Deafness, Autosomal Dominant 3a:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 3a 29 GJB2

Anatomical Context for Deafness, Autosomal Dominant 3a

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

40
Brain, Skin

Publications for Deafness, Autosomal Dominant 3a

Articles related to Deafness, Autosomal Dominant 3a:

(show all 21)
# Title Authors PMID Year
1
Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss. 56 6
15996214 2005
2
W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness. 56 6
11298683 2001
3
A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. 56 6
10807696 2000
4
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. 56 6
9139825 1997
5
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
6
A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome. 6
20854437 2011
7
R75Q dominant mutation in GJB2 gene silenced by the in Cis recessive mutation c.35delG. 56
20815033 2010
8
Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30. 6
20442751 2010
9
The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. 6
16059934 2005
10
A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss. 6
12786758 2003
11
Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness. 6
12700168 2003
12
Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. 6
12668604 2003
13
The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family. 6
12372058 2002
14
De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss. 6
11354642 2001
15
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 6
11313763 2001
16
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
17
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. 6
9856479 1998
18
Nonsyndromic Hearing Loss and Deafness, DFNA3 6
20301708 1998
19
Connexin 26 gene linked to a dominant deafness. 56
9620796 1998
20
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. 56
9529365 1998
21
A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval. 56
7881423 1994

Variations for Deafness, Autosomal Dominant 3a

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

6 (show top 50) (show all 59) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GJB2 NM_004004.6(GJB2):c.101T>C (p.Met34Thr)SNV Pathogenic 17000 rs35887622 13:20763620-20763620 13:20189481-20189481
2 GJB2 NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)SNV Pathogenic 17001 rs80338944 13:20763490-20763490 13:20189351-20189351
3 GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)SNV Pathogenic 17002 rs104894396 13:20763650-20763650 13:20189511-20189511
4 GJB2 NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)SNV Pathogenic 17003 rs104894397 13:20763492-20763492 13:20189353-20189353
5 GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs)deletion Pathogenic 17004 rs80338939 13:20763686-20763686 13:20189547-20189547
6 GJB2 NM_004004.6(GJB2):c.235del (p.Leu79fs)deletion Pathogenic 17014 rs80338943 13:20763486-20763486 13:20189347-20189347
7 GJB2 NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)SNV Pathogenic 17005 rs104894398 13:20763582-20763582 13:20189443-20189443
8 GJB2 NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)SNV Pathogenic 17007 rs80338950 13:20763170-20763170 13:20189031-20189031
9 GJB2 NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)SNV Pathogenic 17009 rs80338948 13:20763294-20763294 13:20189155-20189155
10 GJB2 NM_004004.6(GJB2):c.167del (p.Leu56fs)deletion Pathogenic 17010 rs80338942 13:20763554-20763554 13:20189415-20189415
11 GJB2 NM_004004.6(GJB2):c.223C>T (p.Arg75Trp)SNV Pathogenic 17011 rs104894402 13:20763498-20763498 13:20189359-20189359
12 GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)SNV Pathogenic 17016 rs80338945 13:20763452-20763452 13:20189313-20189313
13 GJB2 NM_004004.6(GJB2):c.605G>T (p.Cys202Phe)SNV Pathogenic 17018 rs104894406 13:20763116-20763116 13:20188977-20188977
14 GJB2 NM_004004.6(GJB2):c.132G>C (p.Trp44Cys)SNV Pathogenic 17019 rs104894407 13:20763589-20763589 13:20189450-20189450
15 GJB2 NM_004004.6(GJB2):c.109G>A (p.Val37Ile)SNV Pathogenic 17023 rs72474224 13:20763612-20763612 13:20189473-20189473
16 GJB2 NM_004004.6(GJB2):c.535G>A (p.Asp179Asn)SNV Pathogenic 17026 rs28931595 13:20763186-20763186 13:20189047-20189047
17 GJB2 NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)SNV Pathogenic 17027 rs28931593 13:20763497-20763497 13:20189358-20189358
18 GJB2 NM_004004.6(GJB2):c.-23+1G>ASNV Pathogenic 17029 rs80338940 13:20766921-20766921 13:20192782-20192782
19 GJB2 NM_004004.6(GJB2):c.131G>C (p.Trp44Ser)SNV Pathogenic 17031 rs104894413 13:20763590-20763590 13:20189451-20189451
20 GJB2 NM_004004.6(GJB2):c.250G>A (p.Val84Met)SNV Pathogenic 17036 rs104894409 13:20763471-20763471 13:20189332-20189332
21 GJB2 NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)SNV Pathogenic 29662 rs80338950 13:20763170-20763170 13:20189031-20189031
22 GJB2 NM_004004.6(GJB2):c.1A>G (p.Met1Val)SNV Pathogenic 44729 rs111033293 13:20763720-20763720 13:20189581-20189581
23 GJB2 NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)SNV Pathogenic 44763 rs111033294 13:20763104-20763104 13:20188965-20188965
24 GJB2 NM_004004.6(GJB2):c.95G>A (p.Arg32His)SNV Pathogenic 44766 rs111033190 13:20763626-20763626 13:20189487-20189487
25 GJB2 NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)SNV Pathogenic 265481 rs774518779 13:20763215-20763215 13:20189076-20189076
26 GJB2 NM_004004.6(GJB2):c.487A>C (p.Met163Leu)SNV Pathogenic 424854 rs80338949 13:20763234-20763234 13:20189095-20189095
27 GJB2 NM_004004.6(GJB2):c.172C>G (p.Pro58Ala)SNV Pathogenic 424853 rs1064797090 13:20763549-20763549 13:20189410-20189410
28 GJB2 NM_004004.6(GJB2):c.164C>A (p.Thr55Asn)SNV Pathogenic 424852 rs1064797089 13:20763557-20763557 13:20189418-20189418
29 GJB2 NM_004004.6(GJB2):c.136G>A (p.Asp46Asn)SNV Pathogenic 424851 rs1064797088 13:20763585-20763585 13:20189446-20189446
30 GJB2 NM_004004.6(GJB2):c.122_124AGG[1] (p.Glu42del)short repeat Pathogenic 590775 rs1566528901 13:20763594-20763596 13:20189455-20189457
31 GJB2 NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)SNV Pathogenic/Likely pathogenic 44749 rs76434661 13:20763305-20763305 13:20189166-20189166
32 GJB2 NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)SNV Pathogenic/Likely pathogenic 550195 rs371024165 13:20763627-20763627 13:20189488-20189488
33 GJB2 NM_004004.6(GJB2):c.564_565del (p.Lys188fs)deletion Pathogenic/Likely pathogenic 371691 rs770116143 13:20763156-20763157 13:20189017-20189018
34 GJB2 NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)SNV Pathogenic/Likely pathogenic 371709 rs767178508 13:20763282-20763282 13:20189143-20189143
35 GJB2 NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)SNV Pathogenic/Likely pathogenic 44742 rs111033295 13:20763356-20763356 13:20189217-20189217
36 GJB2 NM_004004.6(GJB2):c.283G>A (p.Val95Met)SNV Pathogenic/Likely pathogenic 44735 rs111033299 13:20763438-20763438 13:20189299-20189299
37 GJB2 NM_004004.6(GJB2):c.31_68del (p.Gly11fs)deletion Pathogenic/Likely pathogenic 44738 rs397516873 13:20763653-20763690 13:20189514-20189551
38 GJB2 NM_004004.6(GJB2):c.647_650del (p.Arg216fs)deletion Pathogenic/Likely pathogenic 158609 rs587783647 13:20763071-20763074 13:20188932-20188935
39 GJB2 NM_004004.6(GJB2):c.379C>T (p.Arg127Cys)SNV Pathogenic/Likely pathogenic 163514 rs727503066 13:20763342-20763342 13:20189203-20189203
40 GJB2 NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)SNV Pathogenic/Likely pathogenic 188830 rs104894413 13:20763590-20763590 13:20189451-20189451
41 GJB2 NM_004004.6(GJB2):c.35G>T (p.Gly12Val)SNV Pathogenic/Likely pathogenic 21387 rs1801002 13:20763686-20763686 13:20189547-20189547
42 GJB2 NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)SNV Pathogenic/Likely pathogenic 17017 rs104894401 13:20763293-20763293 13:20189154-20189154
43 GJB2 NM_004004.6(GJB2):c.598G>A (p.Gly200Arg)SNV Likely pathogenic 225222 rs786204597 13:20763123-20763123 13:20188984-20188984
44 GJB2 NM_004004.6(GJB2):c.389G>C (p.Gly130Ala)SNV Likely pathogenic 228264 rs779018464 13:20763332-20763332 13:20189193-20189193
45 GJB2 NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)SNV Likely pathogenic 44740 rs104894408 13:20763687-20763687 13:20189548-20189548
46 GJB2 NM_004004.6(GJB2):c.238C>T (p.Gln80Ter)SNV Likely pathogenic 371685 rs199883710 13:20763483-20763483 13:20189344-20189344
47 GJB2 NM_004004.6(GJB2):c.134del (p.Gly45fs)deletion Likely pathogenic 371728 rs1057517491 13:20763587-20763587 13:20189448-20189448
48 GJB2 NM_004004.6(GJB2):c.59T>C (p.Ile20Thr)SNV Likely pathogenic 371766 rs1057517519 13:20763662-20763662 13:20189523-20189523
49 GJB2 NM_004004.6(GJB2):c.514del (p.Trp172fs)deletion Likely pathogenic 371755 rs1057517508 13:20763207-20763207 13:20189068-20189068
50 GJB2 NM_004004.6(GJB2):c.573_574CA[1] (p.Thr192fs)short repeat Likely pathogenic 371768 rs1057517521 13:20763145-20763146 13:20189006-20189007

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

73
# Symbol AA change Variation ID SNP ID
1 GJB2 p.Arg75Trp VAR_002140 rs104894402
2 GJB2 p.Trp44Cys VAR_008709 rs104894407
3 GJB2 p.Arg143Gln VAR_015940 rs104894401
4 GJB2 p.Cys202Phe VAR_015944 rs104894406
5 GJB2 p.Arg184Gln VAR_023614 rs80338950
6 GJB2 p.Ala197Ser VAR_023615 rs777236559
7 GJB2 p.Trp44Ser VAR_032749 rs104894413
8 GJB2 p.Asp179Asn VAR_032752 rs28931595
9 GJB2 p.Asp46Glu VAR_060798

Expression for Deafness, Autosomal Dominant 3a

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

Pathways for Deafness, Autosomal Dominant 3a

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.33 GJB6 GJB4 GJB3 GJB2
2
Show member pathways
11.75 GJB6 GJB4 GJB3 GJB2
3
Show member pathways
10.92 GJB6 GJB4 GJB3 GJB2

GO Terms for Deafness, Autosomal Dominant 3a

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

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.46 GJB6 GJB4 GJB3 GJB2
2 lateral plasma membrane GO:0016328 9.26 GJB2 ATP6V1B1
3 gap junction GO:0005921 9.26 GJB6 GJB4 GJB3 GJB2
4 connexin complex GO:0005922 8.92 GJB6 GJB4 GJB3 GJB2

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.71 GJB6 GJB4 GJB3 GJB2
2 cell communication GO:0007154 9.46 GJB6 GJB4 GJB3 GJB2
3 inner ear development GO:0048839 9.43 GJB6 GJB2
4 olfactory behavior GO:0042048 9.37 GJB4 ATP6V1B1
5 gap junction assembly GO:0016264 9.32 GJB6 GJB2
6 cell communication by electrical coupling GO:0010644 9.26 GJB6 GJB2
7 gap junction-mediated intercellular transport GO:1990349 9.13 GJB6 GJB4 GJB2
8 sensory perception of sound GO:0007605 9.1 GSDME GJB6 GJB2 CRYM COCH ATP6V1B1

Molecular functions related to Deafness, Autosomal Dominant 3a 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 8.92 GJB6 GJB4 GJB3 GJB2

Sources for Deafness, Autosomal Dominant 3a

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