DFNA3A
MCID: DFN098
MIFTS: 32

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 58 30 13 6 74
Dfna3a 58 12 76
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3a 76
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3a 76
Autosomal Dominant Nonsyndromic Deafness 3a 12
Deafness, Autosomal Dominant, Type 3a 41
Deafness, Autosomal Dominant, 3a 76
Autosomal Dominant Deafness 3a 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in late childhood


HPO:

33
deafness, autosomal dominant 3a:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110564
OMIM 58 601544
MeSH 45 D006319
ICD10 34 H90.3
MedGen 43 C2675750
SNOMED-CT via HPO 70 263681008 60700002
UMLS 74 C2675750

Summaries for Deafness, Autosomal Dominant 3a

UniProtKB/Swiss-Prot : 76 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 erythrokeratodermia variabilis et progressiva 2 and hypotrichosis-deafness syndrome. An important gene associated with Deafness, Autosomal Dominant 3a is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are Myometrial Relaxation and Contraction Pathways and Gap junction trafficking. Affiliated tissues include brain and skin, and related phenotype is sensorineural hearing impairment.

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.

Description from OMIM: 601544

Related Diseases for Deafness, Autosomal Dominant 3a

Diseases in the Familial 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 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
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 erythrokeratodermia variabilis et progressiva 2 9.8 GJB4 LOC105378642
2 hypotrichosis-deafness syndrome 9.8 GJB2 GJB4
3 kid syndrome 9.7 GJB2 GJB4
4 pseudoainhum 9.7 GJB2 GJB4
5 knuckle pads 9.7 GJB2 GJB4
6 knuckle pads, leukonychia, and sensorineural deafness 9.7 GJB2 GJB4
7 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 9.7 GJB2 GJB4
8 oculodentodigital dysplasia 9.7 GJB2 GJB4
9 erythrokeratodermia variabilis et progressiva 1 9.6 GJB2 GJB4
10 clouston syndrome 9.6 GJB2 GJB4
11 deafness, autosomal recessive 1a 9.5 GJB2 GJB4 LOC105378642
12 skin disease 9.4 GJB2 GJB4

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:

33
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 33 HP:0000407

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
deafness, neurosensory

Clinical features from OMIM:

601544

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 30 GJB2

Anatomical Context for Deafness, Autosomal Dominant 3a

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

42
Brain, Skin

Publications for Deafness, Autosomal Dominant 3a

Articles related to Deafness, Autosomal Dominant 3a:

(show all 14)
# Title Authors Year
1
A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome. ( 20854437 )
2011
2
Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30. ( 20442751 )
2010
3
Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss. ( 15996214 )
2005
4
The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. ( 16059934 )
2005
5
Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. ( 12668604 )
2003
6
Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness. ( 12700168 )
2003
7
A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss. ( 12786758 )
2003
8
The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family. ( 12372058 )
2002
9
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. ( 11313763 )
2001
10
De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss. ( 11354642 )
2001
11
W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness. ( 11298683 )
2001
12
A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. ( 10807696 )
2000
13
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. ( 9856479 )
1998
14
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. ( 9139825 )
1997

Variations for Deafness, Autosomal Dominant 3a

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

76
# 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

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

6 (show top 50) (show all 132)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.101T> C (p.Met34Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs35887622 GRCh37 Chromosome 13, 20763620: 20763620
2 GJB2 NM_004004.5(GJB2): c.101T> C (p.Met34Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs35887622 GRCh38 Chromosome 13, 20189481: 20189481
3 GJB2 NM_004004.5(GJB2): c.231G> A (p.Trp77Ter) single nucleotide variant Pathogenic rs80338944 GRCh37 Chromosome 13, 20763490: 20763490
4 GJB2 NM_004004.5(GJB2): c.231G> A (p.Trp77Ter) single nucleotide variant Pathogenic rs80338944 GRCh38 Chromosome 13, 20189351: 20189351
5 GJB2 NM_004004.6(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh37 Chromosome 13, 20763650: 20763650
6 GJB2 NM_004004.6(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh38 Chromosome 13, 20189511: 20189511
7 GJB2 NM_004004.5(GJB2): c.229T> C (p.Trp77Arg) single nucleotide variant Pathogenic rs104894397 GRCh37 Chromosome 13, 20763492: 20763492
8 GJB2 NM_004004.5(GJB2): c.229T> C (p.Trp77Arg) single nucleotide variant Pathogenic rs104894397 GRCh38 Chromosome 13, 20189353: 20189353
9 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
10 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh38 Chromosome 13, 20189547: 20189547
11 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
12 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh38 Chromosome 13, 20189443: 20189443
13 GJB2 NM_004004.5(GJB2): c.551G> C (p.Arg184Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338950 GRCh37 Chromosome 13, 20763170: 20763170
14 GJB2 NM_004004.5(GJB2): c.551G> C (p.Arg184Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338950 GRCh38 Chromosome 13, 20189031: 20189031
15 GJB2 NM_004004.6(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh37 Chromosome 13, 20763294: 20763294
16 GJB2 NM_004004.6(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh38 Chromosome 13, 20189155: 20189155
17 GJB2 NM_004004.5(GJB2): c.167delT (p.Leu56Argfs) deletion Pathogenic rs80338942 GRCh37 Chromosome 13, 20763554: 20763554
18 GJB2 NM_004004.5(GJB2): c.167delT (p.Leu56Argfs) deletion Pathogenic rs80338942 GRCh38 Chromosome 13, 20189415: 20189415
19 GJB2 NM_004004.5(GJB2): c.223C> T (p.Arg75Trp) single nucleotide variant Pathogenic rs104894402 GRCh37 Chromosome 13, 20763498: 20763498
20 GJB2 NM_004004.5(GJB2): c.223C> T (p.Arg75Trp) single nucleotide variant Pathogenic rs104894402 GRCh38 Chromosome 13, 20189359: 20189359
21 GJB2 NM_004004.5(GJB2): c.235delC (p.Leu79Cysfs) deletion Pathogenic rs80338943 GRCh37 Chromosome 13, 20763486: 20763486
22 GJB2 NM_004004.5(GJB2): c.235delC (p.Leu79Cysfs) deletion Pathogenic rs80338943 GRCh38 Chromosome 13, 20189347: 20189347
23 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
24 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh38 Chromosome 13, 20189313: 20189313
25 GJB2 NM_004004.5(GJB2): c.428G> A (p.Arg143Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894401 GRCh37 Chromosome 13, 20763293: 20763293
26 GJB2 NM_004004.5(GJB2): c.428G> A (p.Arg143Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894401 GRCh38 Chromosome 13, 20189154: 20189154
27 GJB2 NM_004004.5(GJB2): c.605G> T (p.Cys202Phe) single nucleotide variant Pathogenic rs104894406 GRCh37 Chromosome 13, 20763116: 20763116
28 GJB2 NM_004004.5(GJB2): c.605G> T (p.Cys202Phe) single nucleotide variant Pathogenic rs104894406 GRCh38 Chromosome 13, 20188977: 20188977
29 GJB2 NM_004004.5(GJB2): c.132G> C (p.Trp44Cys) single nucleotide variant Pathogenic rs104894407 GRCh37 Chromosome 13, 20763589: 20763589
30 GJB2 NM_004004.5(GJB2): c.132G> C (p.Trp44Cys) single nucleotide variant Pathogenic rs104894407 GRCh38 Chromosome 13, 20189450: 20189450
31 GJB2 NM_004004.5(GJB2): c.148G> A (p.Asp50Asn) single nucleotide variant Pathogenic rs28931594 GRCh37 Chromosome 13, 20763573: 20763573
32 GJB2 NM_004004.5(GJB2): c.148G> A (p.Asp50Asn) single nucleotide variant Pathogenic rs28931594 GRCh38 Chromosome 13, 20189434: 20189434
33 GJB2 NM_004004.6(GJB2): c.109G> A (p.Val37Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72474224 GRCh37 Chromosome 13, 20763612: 20763612
34 GJB2 NM_004004.6(GJB2): c.109G> A (p.Val37Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72474224 GRCh38 Chromosome 13, 20189473: 20189473
35 GJB2 NM_004004.5(GJB2): c.535G> A (p.Asp179Asn) single nucleotide variant Pathogenic rs28931595 GRCh37 Chromosome 13, 20763186: 20763186
36 GJB2 NM_004004.5(GJB2): c.535G> A (p.Asp179Asn) single nucleotide variant Pathogenic rs28931595 GRCh38 Chromosome 13, 20189047: 20189047
37 GJB2 NM_004004.5(GJB2): c.224G> A (p.Arg75Gln) single nucleotide variant Pathogenic rs28931593 GRCh37 Chromosome 13, 20763497: 20763497
38 GJB2 NM_004004.5(GJB2): c.224G> A (p.Arg75Gln) single nucleotide variant Pathogenic rs28931593 GRCh38 Chromosome 13, 20189358: 20189358
39 GJB2 NM_004004.6(GJB2): c.-23+1G> A single nucleotide variant Pathogenic rs80338940 GRCh37 Chromosome 13, 20766921: 20766921
40 GJB2 NM_004004.6(GJB2): c.-23+1G> A single nucleotide variant Pathogenic rs80338940 GRCh38 Chromosome 13, 20192782: 20192782
41 GJB2 NM_004004.5(GJB2): c.131G> C (p.Trp44Ser) single nucleotide variant Pathogenic rs104894413 GRCh37 Chromosome 13, 20763590: 20763590
42 GJB2 NM_004004.5(GJB2): c.131G> C (p.Trp44Ser) single nucleotide variant Pathogenic rs104894413 GRCh38 Chromosome 13, 20189451: 20189451
43 GJB2 NM_004004.5(GJB2): c.250G> A (p.Val84Met) single nucleotide variant Pathogenic rs104894409 GRCh37 Chromosome 13, 20763471: 20763471
44 GJB2 NM_004004.5(GJB2): c.250G> A (p.Val84Met) single nucleotide variant Pathogenic rs104894409 GRCh38 Chromosome 13, 20189332: 20189332
45 GJB2 NM_004004.5(GJB2): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic/Likely pathogenic rs1801002 GRCh37 Chromosome 13, 20763686: 20763686
46 GJB2 NM_004004.5(GJB2): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic/Likely pathogenic rs1801002 GRCh38 Chromosome 13, 20189547: 20189547
47 GJB2 NM_004004.5(GJB2): c.551G> A (p.Arg184Gln) single nucleotide variant Pathogenic rs80338950 GRCh37 Chromosome 13, 20763170: 20763170
48 GJB2 NM_004004.5(GJB2): c.551G> A (p.Arg184Gln) single nucleotide variant Pathogenic rs80338950 GRCh38 Chromosome 13, 20189031: 20189031
49 GJB2 NM_004004.5(GJB2): c.79G> A (p.Val27Ile) single nucleotide variant Benign rs2274084 GRCh37 Chromosome 13, 20763642: 20763642
50 GJB2 NM_004004.5(GJB2): c.79G> A (p.Val27Ile) single nucleotide variant Benign rs2274084 GRCh38 Chromosome 13, 20189503: 20189503

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
11.45 GJB2 GJB4
2
Show member pathways
10.61 GJB2 GJB4

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 gap junction GO:0005921 8.96 GJB2 GJB4
2 connexin complex GO:0005922 8.62 GJB2 GJB4

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

# Name GO ID Score Top Affiliating Genes
1 cell communication GO:0007154 8.62 GJB2 GJB4

Sources for Deafness, Autosomal Dominant 3a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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