MCID: DFN097
MIFTS: 40

Deafness, Autosomal Recessive 1a

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

Aliases & Classifications for Deafness, Autosomal Recessive 1a

MalaCards integrated aliases for Deafness, Autosomal Recessive 1a:

Name: Deafness, Autosomal Recessive 1a 54 29 13 69
Autosomal Recessive Nonsyndromic Deafness 1a 12 14
Deafness, Digenic, Gjb2/gjb3 54 29
Dfnb1a 12 71
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1 71
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1 71
Deafness Neurosensory Autosomal Recessive 1 71
Deafness, Autosomal Recessive, 1a 71
Autosomal Recessive Deafness 1a 12
Deafness, Digenic, Gjb2/gjb6 29
Deafness, Digenic Gjb2/gjb6 54
Deafness Digenic Gjb2/gjb3 71
Deafness Digenic Gjb2/gjb6 71
Nsrd1 71

Characteristics:

OMIM:

54
Miscellaneous:
about half of patients report vestibular symptoms

Inheritance:
digenic dominant
autosomal recessive


HPO:

32
deafness, autosomal recessive 1a:
Inheritance autosomal recessive inheritance digenic inheritance


Classifications:



External Ids:

OMIM 54 220290
Disease Ontology 12 DOID:0110475
ICD10 33 H90.3
MeSH 42 D006319
SNOMED-CT via HPO 65 258211005 60700002

Summaries for Deafness, Autosomal Recessive 1a

UniProtKB/Swiss-Prot : 71 Deafness, autosomal recessive, 1A: 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 Recessive 1a, also known as autosomal recessive nonsyndromic deafness 1a, is related to deafness, autosomal recessive 1b and gjb2-related dfnb 1 nonsyndromic hearing loss and deafness, and has symptoms including sensorineural hearing impairment and vestibular dysfunction. An important gene associated with Deafness, Autosomal Recessive 1a is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are Vesicle-mediated transport and Development Slit-Robo signaling. Affiliated tissues include brain, and related phenotype is immune system.

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has material basis in mutation in the GJB2 gene on chromosome 13q12.

Description from OMIM: 220290

Related Diseases for Deafness, Autosomal Recessive 1a

Diseases in the Familial Deafness family:

Deafness, Autosomal Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 108
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 105
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 Dominant 70 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 55
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 104 Deafness, Autosomal Recessive 66
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 53
Deafness, Autosomal Dominant 31 Deafness, Autosomal Recessive 67
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 66 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 Recessive 97
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 106
Deafness, Autosomal Recessive 18b Deafness, Autosomal Dominant 59
Deafness, Autosomal Recessive 51 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 Dominant 73 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 Dominant 3b
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 Dominant 71 Deafness, Autosomal Recessive 48
Deafness, Autosomal Dominant 68 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 Recessive 107
Deafness, Autosomal Dominant 20/26 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 4b Deafness, Autosomal Dominant 4a
Deafness, Autosomal Dominant 67 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
Nonsyndromic Deafness Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 8
Autosomal Dominant Nonsyndromic Deafness 12 Autosomal Dominant Nonsyndromic Deafness 20
Autosomal Dominant Nonsyndromic Deafness 6 Autosomal Dominant Nonsyndromic Deafness 69
Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 1a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
id Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 1b 11.1
2 gjb2-related dfnb 1 nonsyndromic hearing loss and deafness 10.8
3 x-linked dystonia-parkinsonism/lubag 10.1 GJB1 GJB2
4 myocardial infarction 2 10.1 GJB2 GJB6
5 myopia 22, autosomal dominant 10.0 GJB2 GJB6
6 congenital disorder of glycosylation with developmental anomaly 10.0 GJB2 GJB6
7 diabetes persistent mullerian ducts 10.0 GJB2 GJB6
8 troyer syndrome 10.0 GJB2 GJB6
9 keratoderma, palmoplantar, with deafness 9.9 GJB2 GJB6
10 nonsyndromic hydrocephalus, ccdc88c-related 9.9 GJB2 GJB6
11 transient neonatal multiple acyl-coa dehydrogenase deficiency 9.8 GJB2 GJB3
12 microcephaly and chorioretinopathy, autosomal recessive, 3 9.8 GJB2 GJB6
13 deafness, autosomal dominant 2a 9.8 GJB2 GJB6
14 spastic paraplegia 50, autosomal recessive 9.7 GJB2 GJB3
15 ausems wittebol-post hennekam syndrome 9.7 GJB2 GJB6
16 cerebral artery occlusion 9.7 GJB2 GJB6
17 psoriatic arthritis 9.7 GJB2 GJB3
18 carotid artery disease 9.4 GJB2 GJB3
19 kikuchi disease 9.3 GJB2 GJB3 GJB6
20 pseudocholinesterase deficiency 9.3 GJB2 GJB3 GJB6
21 fascioliasis 9.3 GJB2 GJB3 GJB6
22 viral laryngitis 9.3 GJB2 GJB3 GJB6
23 dementia, familial british 9.3 GJB2 GJB3 GJB6
24 nodular lichen myxedematosus 9.3 GJB2 GJB3 GJB6
25 narcissistic personality disorder 9.2 GJB2 GJB3 GJB6
26 mixed lacrimal gland cancer 9.2 GJB2 GJB3 GJB6
27 dihydrolipoamide dehydrogenase deficiency 9.2 GJB2 GJB3 GJB6
28 discrete papular lichen myxedematosus 9.2 GJB2 GJB3 GJB6
29 deafness, autosomal recessive 9.2 GJB2 GJB3
30 endometritis 9.2 GJB2 GJB3 GJB6
31 small non-cleaved cell lymphoma 9.2 GJB2 GJB3 GJB6
32 autosomal recessive nonsyndromic deafness 9.2 GJB2 GJB3 GJB6
33 deafness, autosomal dominant 3a 8.8 GJB1 GJB2 GJB3 GJB6
34 erythrokeratodermia variabilis et progressiva 1 8.8 GJB1 GJB2 GJB3 GJB6

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 1a:



Diseases related to Deafness, Autosomal Recessive 1a

Symptoms & Phenotypes for Deafness, Autosomal Recessive 1a

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Ears:
vestibular dysfunction (in some patients)
hearing loss, sensorineural, prelingual profound


Clinical features from OMIM:

220290

Human phenotypes related to Deafness, Autosomal Recessive 1a:

32
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 vestibular dysfunction 32 occasional (7.5%) HP:0001751

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 1a:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 8.92 GJB1 GJB2 GJB3 GJB6

Drugs & Therapeutics for Deafness, Autosomal Recessive 1a

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 1a

Genetic Tests for Deafness, Autosomal Recessive 1a

Genetic tests related to Deafness, Autosomal Recessive 1a:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 1a 29
2 Deafness, Digenic, Gjb2/gjb6 29
3 Deafness, Digenic, Gjb2/gjb3 29

Anatomical Context for Deafness, Autosomal Recessive 1a

MalaCards organs/tissues related to Deafness, Autosomal Recessive 1a:

39
Brain

Publications for Deafness, Autosomal Recessive 1a

Variations for Deafness, Autosomal Recessive 1a

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 1a:

71 (show all 22)
id Symbol AA change Variation ID SNP ID
1 GJB2 p.Val37Ile VAR_002139 rs72474224
2 GJB2 p.Trp77Arg VAR_002141 rs104894397
3 GJB2 p.Val84Leu VAR_002143 rs104894409
4 GJB2 p.Val95Met VAR_002144 rs111033299
5 GJB2 p.Ser113Arg VAR_002145 rs80338946
6 GJB2 p.Arg184Trp VAR_009969
7 GJB2 p.Thr86Arg VAR_015458
8 GJB2 p.Arg143Trp VAR_015460 rs80338948
9 GJB2 p.Leu90Pro VAR_015937 rs80338945
10 GJB2 p.Asp159Val VAR_015941 rs28931592
11 GJB2 p.Arg184Pro VAR_015943 rs80338950
12 GJB2 p.Arg32His VAR_023605 rs111033190
13 GJB2 p.Leu79Pro VAR_023607
14 GJB2 p.Gln80Lys VAR_023608
15 GJB2 p.Met93Ile VAR_023609 rs397516871
16 GJB2 p.Glu129Lys VAR_023611 rs397516875
17 GJB2 p.Val178Ala VAR_023613 rs568612627
18 GJB2 p.Ile203Lys VAR_023616
19 GJB2 p.Leu214Pro VAR_023617
20 GJB2 p.Val84Met VAR_060800 rs104894409
21 GJB2 p.Gly130Ala VAR_069520
22 GJB2 p.Gly130Asp VAR_069521 rs779018464

ClinVar genetic disease variations for Deafness, Autosomal Recessive 1a:

6 (show top 50) (show all 75)
id Gene Variation Type Significance SNP ID Assembly Location
1 GJB2; GJB6 GJB6, 309-KB DEL deletion Pathogenic
2 GJB6 NC_000013.11 deletion Pathogenic GRCh38 Chromosome 13, 20228574: 20460629
3 GJB3 NM_024009.2(GJB3): c.497A> G (p.Asn166Ser) single nucleotide variant Pathogenic rs121908851 GRCh38 Chromosome 1, 34785259: 34785259
4 GJB2 NM_004004.5(GJB2): c.231G> A (p.Trp77Ter) single nucleotide variant Pathogenic rs80338944 GRCh37 Chromosome 13, 20763490: 20763490
5 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh37 Chromosome 13, 20763650: 20763650
6 GJB2 NM_004004.5(GJB2): c.229T> C (p.Trp77Arg) single nucleotide variant Pathogenic rs104894397 GRCh37 Chromosome 13, 20763492: 20763492
7 GJB2 NM_004004.5(GJB2): c.551G> C (p.Arg184Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338950 GRCh37 Chromosome 13, 20763170: 20763170
8 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh37 Chromosome 13, 20763294: 20763294
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.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
11 GJB2 NM_004004.5(GJB2): c.358_360delGAG (p.Glu120del) deletion Pathogenic rs80338947 GRCh37 Chromosome 13, 20763361: 20763363
12 GJB2 NM_004004.5(GJB2): c.51_62delCACCAGCATTGGinsA (p.Thr18Lysfs) indel Pathogenic rs886037624 GRCh37 Chromosome 13, 20763659: 20763670
13 GJB2 NM_004004.5(GJB2): c.235delC (p.Leu79Cysfs) deletion Pathogenic rs80338943 GRCh37 Chromosome 13, 20763486: 20763486
14 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
15 GJB2 NM_004004.5(GJB2): c.428G> A (p.Arg143Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894401 GRCh37 Chromosome 13, 20763293: 20763293
16 GJB2 NM_004004.5(GJB2): c.148G> A (p.Asp50Asn) single nucleotide variant Pathogenic rs28931594 GRCh37 Chromosome 13, 20763573: 20763573
17 GJB2 NM_004004.5(GJB2): c.109G> A (p.Val37Ile) single nucleotide variant Pathogenic/Likely pathogenic rs72474224 GRCh37 Chromosome 13, 20763612: 20763612
18 GJB2 NM_004004.5(GJB2): c.476A> T (p.Asp159Val) single nucleotide variant Pathogenic rs28931592 GRCh37 Chromosome 13, 20763245: 20763245
19 GJB2 NM_004004.5(GJB2): c.280_284dupCACGT (p.Ala96Thrfs) duplication Pathogenic rs886037625 GRCh37 Chromosome 13, 20763437: 20763441
20 GJB2 NM_004004.5(GJB2): c.224G> A (p.Arg75Gln) single nucleotide variant Pathogenic rs28931593 GRCh37 Chromosome 13, 20763497: 20763497
21 GJB2 NM_004004.5(GJB2): c.-23+1G> A single nucleotide variant Pathogenic rs80338940 GRCh37 Chromosome 13, 20766921: 20766921
22 GJB2 NM_004004.5(GJB2): c.250G> C (p.Val84Leu) single nucleotide variant Pathogenic rs104894409 GRCh37 Chromosome 13, 20763471: 20763471
23 GJB2 NM_004004.5(GJB2): c.134G> A (p.Gly45Glu) single nucleotide variant Pathogenic/Likely pathogenic rs72561723 GRCh37 Chromosome 13, 20763587: 20763587
24 GJB2 NM_004004.5(GJB2): c.-260C> T single nucleotide variant Pathogenic rs886037626 GRCh37 Chromosome 13, 20767159: 20767159
25 GJB2 NM_004004.5(GJB2): c.250G> A (p.Val84Met) single nucleotide variant Pathogenic rs104894409 GRCh37 Chromosome 13, 20763471: 20763471
26 GJB2 NM_004004.5(GJB2): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic/Likely pathogenic rs1801002 GRCh37 Chromosome 13, 20763686: 20763686
27 GJB2 NM_004004.5(GJB2): c.56G> C (p.Ser19Thr) single nucleotide variant Pathogenic rs80338941 GRCh37 Chromosome 13, 20763665: 20763665
28 GJB2 NM_004004.5(GJB2): c.19C> T (p.Gln7Ter) single nucleotide variant Likely pathogenic rs111033451 GRCh37 Chromosome 13, 20763702: 20763702
29 GJB2 NM_004004.5(GJB2): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic/Likely pathogenic rs111033299 GRCh37 Chromosome 13, 20763438: 20763438
30 GJB2 NM_004004.5(GJB2): c.299_300delAT (p.His100Argfs) deletion Pathogenic rs111033204 GRCh37 Chromosome 13, 20763421: 20763422
31 GJB2 NM_004004.5(GJB2): c.313_326delAAGTTCATCAAGGG (p.Lys105Glyfs) deletion Pathogenic rs111033253 GRCh37 Chromosome 13, 20763395: 20763408
32 GJB2 NM_004004.5(GJB2): c.31_68del38 (p.Gly11Leufs) deletion Pathogenic/Likely pathogenic rs397516873 GRCh37 Chromosome 13, 20763653: 20763690
33 GJB2 NM_004004.5(GJB2): c.365A> T (p.Lys122Ile) single nucleotide variant Pathogenic/Likely pathogenic rs111033295 GRCh37 Chromosome 13, 20763356: 20763356
34 GJB2 NM_004004.5(GJB2): c.370C> T (p.Gln124Ter) single nucleotide variant Pathogenic rs397516874 GRCh37 Chromosome 13, 20763351: 20763351
35 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh37 Chromosome 13, 20763305: 20763305
36 GJB2 NM_004004.5(GJB2): c.44A> C (p.Lys15Thr) single nucleotide variant Pathogenic/Likely pathogenic rs111033217 GRCh37 Chromosome 13, 20763677: 20763677
37 GJB2 NM_004004.5(GJB2) indel Pathogenic rs111033335 GRCh37 Chromosome 13, 20763121: 20763129
38 GJB2 NM_004004.5(GJB2): c.617A> G (p.Asn206Ser) single nucleotide variant Pathogenic rs111033294 GRCh37 Chromosome 13, 20763104: 20763104
39 GJB2 NM_004004.5(GJB2): c.95G> A (p.Arg32His) single nucleotide variant Pathogenic rs111033190 GRCh37 Chromosome 13, 20763626: 20763626
40 GJB2 NM_004004.5(GJB2): c.35dupG (p.Val13Cysfs) duplication Pathogenic/Likely pathogenic rs398123814 GRCh37 Chromosome 13, 20763686: 20763686
41 GJB2 NM_004004.5(GJB2): c.647_650delGATA (p.Arg216Ilefs) deletion Pathogenic/Likely pathogenic rs587783647 GRCh38 Chromosome 13, 20188932: 20188935
42 GJB2 NM_004004.5(GJB2): c.632_633delGT (p.Cys211Leufs) deletion Pathogenic/Likely pathogenic rs587783646 GRCh38 Chromosome 13, 20188949: 20188950
43 GJB2 NM_004004.5(GJB2): c.298C> T (p.His100Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs143343083 GRCh38 Chromosome 13, 20189284: 20189284
44 GJB2 NM_004004.5(GJB2): c.269dupT (p.Val91Serfs) duplication Pathogenic/Likely pathogenic rs730880338 GRCh37 Chromosome 13, 20763452: 20763452
45 GJB2 NM_004004.5(GJB2): c.250G> T (p.Val84Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894409 GRCh37 Chromosome 13, 20763471: 20763471
46 GJB2 NM_004004.5(GJB2): c.598G> T (p.Gly200Ter) single nucleotide variant Likely pathogenic rs786204597 GRCh37 Chromosome 13, 20763123: 20763123
47 GJB2 NM_004004.5(GJB2): c.596C> T (p.Ser199Phe) single nucleotide variant Likely pathogenic rs771748289 GRCh38 Chromosome 13, 20188986: 20188986
48 GJB2 NM_004004.5(GJB2): c.508_511dupAACG (p.Ala171Glufs) duplication Pathogenic/Likely pathogenic rs773528125 GRCh38 Chromosome 13, 20189071: 20189074
49 GJB2 NM_004004.5(GJB2): c.408C> A (p.Tyr136Ter) single nucleotide variant Likely pathogenic rs786204690 GRCh37 Chromosome 13, 20763313: 20763313
50 GJB2 NM_004004.5(GJB2): c.334_335delAA (p.Lys112Glufs) deletion Likely pathogenic rs756484720 GRCh37 Chromosome 13, 20763386: 20763387

Expression for Deafness, Autosomal Recessive 1a

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 1a.

Pathways for Deafness, Autosomal Recessive 1a

GO Terms for Deafness, Autosomal Recessive 1a

Cellular components related to Deafness, Autosomal Recessive 1a according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.46 GJB1 GJB2 GJB3 GJB6
2 lateral plasma membrane GO:0016328 9.26 GJB1 GJB2
3 gap junction GO:0005921 9.26 GJB1 GJB2 GJB3 GJB6
4 connexin complex GO:0005922 8.92 GJB1 GJB2 GJB3 GJB6

Biological processes related to Deafness, Autosomal Recessive 1a according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.43 GJB1 GJB2 GJB3
2 response to lipopolysaccharide GO:0032496 9.4 GJB2 GJB6
3 aging GO:0007568 9.37 GJB2 GJB6
4 sensory perception of sound GO:0007605 9.32 GJB2 GJB6
5 inner ear development GO:0048839 9.16 GJB2 GJB6
6 gap junction assembly GO:0016264 8.96 GJB1 GJB2
7 cell communication GO:0007154 8.92 GJB1 GJB2 GJB3 GJB6

Molecular functions related to Deafness, Autosomal Recessive 1a according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.8 GJB1 GJB2 GJB3

Sources for Deafness, Autosomal Recessive 1a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....