DFNA3A
MCID: DFN098
MIFTS: 33

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 57 29 13 6 72
Dfna3a 57 12 74
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3a 74
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3a 74
Autosomal Dominant Nonsyndromic Deafness 3a 12
Deafness, Autosomal Dominant, Type 3a 40
Deafness, Autosomal Dominant, 3a 74
Autosomal Dominant Deafness 3a 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in late childhood


HPO:

32
deafness, autosomal dominant 3a:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110564
MeSH 44 D006319
ICD10 33 H90.3
MedGen 42 C2675750
UMLS 72 C2675750

Summaries for Deafness, Autosomal Dominant 3a

UniProtKB/Swiss-Prot : 74 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 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.

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 Familial 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 9.7 LOC105378642 GJB4
2 hypotrichosis-deafness syndrome 9.6 GJB4 GJB2
3 kid syndrome 9.6 GJB4 GJB2
4 pseudoainhum 9.6 GJB4 GJB2
5 knuckle pads 9.5 GJB4 GJB2
6 knuckle pads, leukonychia, and sensorineural deafness 9.5 GJB4 GJB2
7 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 9.5 GJB4 GJB2
8 oculodentodigital dysplasia 9.4 GJB4 GJB2
9 erythrokeratodermia variabilis et progressiva 1 9.4 GJB4 GJB2
10 clouston syndrome 9.3 GJB4 GJB2
11 deafness, autosomal recessive 1a 9.1 LOC105378642 GJB4 GJB2
12 skin disease 9.1 GJB4 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:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407

Symptoms via clinical synopsis from OMIM:

57
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 29 GJB2

Anatomical Context for Deafness, Autosomal Dominant 3a

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

41
Brain

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. 8 71
15996214 2005
2
W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness. 8 71
11298683 2001
3
A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. 8 71
10807696 2000
4
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. 8 71
9139825 1997
5
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 71
24651602 2014
6
A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome. 71
20854437 2011
7
R75Q dominant mutation in GJB2 gene silenced by the in Cis recessive mutation c.35delG. 8
20815033 2010
8
Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30. 71
20442751 2010
9
The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. 71
16059934 2005
10
A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss. 71
12786758 2003
11
Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness. 71
12700168 2003
12
Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. 71
12668604 2003
13
The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family. 71
12372058 2002
14
De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss. 71
11354642 2001
15
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. 71
11313763 2001
16
Hereditary Hearing Loss and Deafness Overview 71
20301607 1999
17
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. 71
9856479 1998
18
Nonsyndromic Hearing Loss and Deafness, DFNA3 71
20301708 1998
19
Connexin 26 gene linked to a dominant deafness. 8
9620796 1998
20
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. 8
9529365 1998
21
A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval. 8
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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GJB2 NM_004004.6(GJB2): c.487A> C (p.Met163Leu) single nucleotide variant Pathogenic rs80338949 13:20763234-20763234 13:20189095-20189095
2 GJB2 NM_004004.6(GJB2): c.172C> G (p.Pro58Ala) single nucleotide variant Pathogenic rs1064797090 13:20763549-20763549 13:20189410-20189410
3 GJB2 NM_004004.6(GJB2): c.164C> A (p.Thr55Asn) single nucleotide variant Pathogenic rs1064797089 13:20763557-20763557 13:20189418-20189418
4 GJB2 NM_004004.6(GJB2): c.136G> A (p.Asp46Asn) single nucleotide variant Pathogenic rs1064797088 13:20763585-20763585 13:20189446-20189446
5 GJB2 NM_004004.6(GJB2): c.250G> A (p.Val84Met) single nucleotide variant Pathogenic rs104894409 13:20763471-20763471 13:20189332-20189332
6 GJB2 NM_004004.6(GJB2): c.101T> C (p.Met34Thr) single nucleotide variant Pathogenic rs35887622 13:20763620-20763620 13:20189481-20189481
7 GJB2 NM_004004.6(GJB2): c.231G> A (p.Trp77Ter) single nucleotide variant Pathogenic rs80338944 13:20763490-20763490 13:20189351-20189351
8 GJB2 NM_004004.6(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 13:20763650-20763650 13:20189511-20189511
9 GJB2 NM_004004.6(GJB2): c.229T> C (p.Trp77Arg) single nucleotide variant Pathogenic rs104894397 13:20763492-20763492 13:20189353-20189353
10 GJB2 NM_004004.6(GJB2): c.35del (p.Gly12fs) deletion Pathogenic rs80338939 13:20763686-20763686 13:20189547-20189547
11 GJB2 NM_004004.6(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 13:20763582-20763582 13:20189443-20189443
12 GJB2 NM_004004.6(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 13:20763294-20763294 13:20189155-20189155
13 GJB2 NM_004004.6(GJB2): c.167del (p.Leu56fs) deletion Pathogenic rs80338942 13:20763554-20763554 13:20189415-20189415
14 GJB2 NM_004004.6(GJB2): c.223C> T (p.Arg75Trp) single nucleotide variant Pathogenic rs104894402 13:20763498-20763498 13:20189359-20189359
15 GJB2 NM_004004.6(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 13:20763452-20763452 13:20189313-20189313
16 GJB2 NM_004004.6(GJB2): c.605G> T (p.Cys202Phe) single nucleotide variant Pathogenic rs104894406 13:20763116-20763116 13:20188977-20188977
17 GJB2 NM_004004.6(GJB2): c.132G> C (p.Trp44Cys) single nucleotide variant Pathogenic rs104894407 13:20763589-20763589 13:20189450-20189450
18 GJB2 NM_004004.6(GJB2): c.109G> A (p.Val37Ile) single nucleotide variant Pathogenic rs72474224 13:20763612-20763612 13:20189473-20189473
19 GJB2 NM_004004.6(GJB2): c.535G> A (p.Asp179Asn) single nucleotide variant Pathogenic rs28931595 13:20763186-20763186 13:20189047-20189047
20 GJB2 NM_004004.6(GJB2): c.224G> A (p.Arg75Gln) single nucleotide variant Pathogenic rs28931593 13:20763497-20763497 13:20189358-20189358
21 GJB2 NM_004004.6(GJB2): c.-23+1G> A single nucleotide variant Pathogenic rs80338940 13:20766921-20766921 13:20192782-20192782
22 GJB2 NM_004004.6(GJB2): c.131G> C (p.Trp44Ser) single nucleotide variant Pathogenic rs104894413 13:20763590-20763590 13:20189451-20189451
23 GJB2 NM_004004.6(GJB2): c.551G> A (p.Arg184Gln) single nucleotide variant Pathogenic rs80338950 13:20763170-20763170 13:20189031-20189031
24 GJB2 NM_004004.6(GJB2): c.235del (p.Leu79fs) deletion Pathogenic rs80338943 13:20763486-20763486 13:20189347-20189347
25 GJB2 NM_004004.6(GJB2): c.95G> A (p.Arg32His) single nucleotide variant Pathogenic rs111033190 13:20763626-20763626 13:20189487-20189487
26 GJB2 NM_004004.6(GJB2): c.617A> G (p.Asn206Ser) single nucleotide variant Pathogenic rs111033294 13:20763104-20763104 13:20188965-20188965
27 GJB2 NM_004004.6(GJB2): c.506G> A (p.Cys169Tyr) single nucleotide variant Pathogenic rs774518779 13:20763215-20763215 13:20189076-20189076
28 GJB2 NM_004004.6(GJB2): c.122_124AGG[1] (p.Glu42del) short repeat Pathogenic 13:20763594-20763596 13:20189455-20189457
29 GJB2 NM_004004.6(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 13:20763305-20763305 13:20189166-20189166
30 GJB2 NM_004004.6(GJB2): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894413 13:20763590-20763590 13:20189451-20189451
31 GJB2 NM_004004.6(GJB2): c.647_650del (p.Arg216fs) deletion Pathogenic/Likely pathogenic rs587783647 13:20763071-20763074 13:20188932-20188935
32 GJB2 NM_004004.6(GJB2): c.379C> T (p.Arg127Cys) single nucleotide variant Pathogenic/Likely pathogenic rs727503066 13:20763342-20763342 13:20189203-20189203
33 GJB2 NM_004004.6(GJB2): c.365A> T (p.Lys122Ile) single nucleotide variant Pathogenic/Likely pathogenic rs111033295 13:20763356-20763356 13:20189217-20189217
34 GJB2 NM_004004.6(GJB2): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs111033293 13:20763720-20763720 13:20189581-20189581
35 GJB2 NM_004004.6(GJB2): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic/Likely pathogenic rs111033299 13:20763438-20763438 13:20189299-20189299
36 GJB2 NM_004004.6(GJB2): c.31_68del (p.Gly11fs) deletion Pathogenic/Likely pathogenic rs397516873 13:20763653-20763690 13:20189514-20189551
37 GJB2 NM_004004.6(GJB2): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic/Likely pathogenic rs1801002 13:20763686-20763686 13:20189547-20189547
38 GJB2 NM_004004.6(GJB2): c.428G> A (p.Arg143Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894401 13:20763293-20763293 13:20189154-20189154
39 GJB2 NM_004004.6(GJB2): c.564_565del (p.Lys188fs) deletion Pathogenic/Likely pathogenic rs770116143 13:20763156-20763157 13:20189017-20189018
40 GJB2 NM_004004.6(GJB2): c.94C> A (p.Arg32Ser) single nucleotide variant Pathogenic/Likely pathogenic rs371024165 13:20763627-20763627 13:20189488-20189488
41 GJB2 NM_004004.6(GJB2): c.551G> C (p.Arg184Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338950 13:20763170-20763170 13:20189031-20189031
42 GJB2 NM_004004.6(GJB2): c.439G> A (p.Glu147Lys) single nucleotide variant Pathogenic/Likely pathogenic rs767178508 13:20763282-20763282 13:20189143-20189143
43 GJB2 NM_004004.6(GJB2): c.238C> T (p.Gln80Ter) single nucleotide variant Likely pathogenic rs199883710 13:20763483-20763483 13:20189344-20189344
44 GJB2 NM_004004.6(GJB2): c.134del (p.Gly45fs) deletion Likely pathogenic rs1057517491 13:20763587-20763587 13:20189448-20189448
45 GJB2 NM_004004.6(GJB2): c.59T> C (p.Ile20Thr) single nucleotide variant Likely pathogenic rs1057517519 13:20763662-20763662 13:20189523-20189523
46 GJB2 NM_004004.6(GJB2): c.172C> T (p.Pro58Ser) single nucleotide variant Likely pathogenic rs1064797090 13:20763549-20763549 13:20189410-20189410
47 GJB2 NM_004004.6(GJB2): c.573_574CA[1] (p.Thr192fs) short repeat Likely pathogenic rs1057517521 13:20763145-20763146 13:20189006-20189007
48 GJB2 NM_004004.6(GJB2): c.514del (p.Trp172fs) deletion Likely pathogenic rs1057517508 13:20763207-20763207 13:20189068-20189068
49 GJB2 NM_004004.6(GJB2): c.34G> T (p.Gly12Cys) single nucleotide variant Likely pathogenic rs104894408 13:20763687-20763687 13:20189548-20189548
50 GJB2 NM_004004.6(GJB2): c.598G> A (p.Gly200Arg) single nucleotide variant Likely pathogenic rs786204597 13:20763123-20763123 13:20188984-20188984

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

74
# 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
11.45 GJB4 GJB2
2
Show member pathways
10.61 GJB4 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 gap junction GO:0005921 8.96 GJB4 GJB2
2 connexin complex GO:0005922 8.62 GJB4 GJB2

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 GJB4 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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