DFNB1A
MCID: DFN097
MIFTS: 39

Deafness, Autosomal Recessive 1a (DFNB1A)

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

Aliases & Classifications for Deafness, Autosomal Recessive 1a

MalaCards integrated aliases for Deafness, Autosomal Recessive 1a:

Name: Deafness, Autosomal Recessive 1a 57 29 13 6 73
Deafness, Digenic, Gjb2/gjb3 57 29 6
Dfnb1a 57 12 75
Autosomal Recessive Nonsyndromic Deafness 1a 12 15
Deafness, Digenic, Gjb2/gjb6 29 6
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1 75
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1 75
Deafness Neurosensory Autosomal Recessive 1 75
Deafness, Autosomal Recessive, Type 1a 40
Deafness, Autosomal Recessive, 1a 75
Autosomal Recessive Deafness 1a 12
Deafness, Digenic Gjb2/gjb6 57
Deafness Digenic Gjb2/gjb3 75
Deafness Digenic Gjb2/gjb6 75
Nsrd1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
digenic (see miscellaneous)

Miscellaneous:
about half of patients report vestibular symptoms
digenic form caused by simultaneous heterozygous mutations in gjb2 and either gjb3 or gjb6


HPO:

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


Classifications:



External Ids:

OMIM 57 220290
Disease Ontology 12 DOID:0110475
ICD10 33 H90.3
MeSH 44 D006319
SNOMED-CT via HPO 69 258211005 60700002
UMLS 73 C2673759

Summaries for Deafness, Autosomal Recessive 1a

UniProtKB/Swiss-Prot : 75 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 deafness, digenic, gjb2/gjb3, is related to deafness, autosomal recessive 1b and deafness, autosomal dominant nonsyndromic sensorineural 3. 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 G-Beta Gamma Signaling. Affiliated tissues include brain and skin, and related phenotypes are sensorineural hearing impairment and vestibular dysfunction

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 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
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 105 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 Recessive 1a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 1b 11.4
2 deafness, autosomal dominant nonsyndromic sensorineural 3 11.1
3 deafness, autosomal dominant 24 10.1 GJB2 GJB6
4 deafness, x-linked 2 10.1 GJB2 GJB6
5 vohwinkel syndrome 10.1 GJB2 GJB6
6 deafness, autosomal recessive 23 10.1 GJB2 GJB6
7 congenital cytomegalovirus 10.1 GJB2 GJB6
8 deafness, autosomal recessive 9 10.1 GJB2 OTOF
9 deafness, autosomal recessive 2 10.1 GJB2 OTOF
10 deafness, autosomal recessive 59 10.1 GJB2 OTOF
11 deafness, autosomal dominant 2a 10.1 GJB2 GJB6
12 auditory neuropathy, autosomal dominant, 1 10.1 GJB2 OTOF
13 oculodentodigital dysplasia 10.1 GJB2 GJB4
14 deafness, autosomal recessive 26 10.0 GJB2 OTOF
15 autosomal recessive nonsyndromic deafness 10.0 GJB2 OTOF
16 autosomal recessive nonsyndromic deafness 3 10.0 GJB2 OTOF
17 deafness, autosomal dominant 6 10.0 GJB2 OTOF
18 erythrokeratodermia variabilis et progressiva 2 10.0 GJB4 LOC105378642
19 branchiootic syndrome 1 10.0 GJB2 OTOF
20 keratitis, hereditary 10.0 GJB2 GJB6
21 deafness, autosomal recessive 93 10.0 GJB2 GJB3
22 deafness, autosomal dominant 13 10.0 GJB2 OTOF
23 deafness, autosomal recessive 28 10.0 GJB2 GJB3
24 deafness, autosomal recessive 10.0 GJB3 OTOF
25 knuckle pads, leukonychia, and sensorineural deafness 9.9 GJB2 GJB4 GJB6
26 corneal disease 9.9 GJB2 GJB6
27 dfnb1 9.9 GJB2 GJB6 OTOF
28 deafness, autosomal recessive 67 9.9 GJB2 GJB3
29 deafness, autosomal recessive 16 9.9 GJB2 GJB6 OTOF
30 drug-induced hearing loss 9.9 GJB2 GJB3
31 deafness, autosomal dominant 2b 9.9 GJB3 LOC105378642
32 palmoplantar keratosis 9.9 GJB2 GJB3
33 deafness, autosomal dominant 3a 9.9 GJB2 GJB4 LOC105378642
34 ectodermal dysplasia 9.9 GJB2 GJB6
35 hodgkin's lymphoma, nodular sclerosis 9.8 GJB2 GJB3 GJB6
36 vestibular disease 9.8 GJB2 GJB3 GJB6
37 inner ear disease 9.8 GJB2 GJB3 GJB6
38 hypotrichosis-deafness syndrome 9.8 GJB2 GJB3 GJB4
39 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 9.8 GJB2 GJB3 GJB4
40 autosomal dominant nonsyndromic deafness 9.8 GJB2 GJB3 OTOF
41 kid syndrome 9.6 GJB2 GJB3 GJB4 GJB6
42 pseudoainhum 9.6 GJB2 GJB3 GJB4 GJB6
43 knuckle pads 9.6 GJB2 GJB3 GJB4 GJB6
44 erythrokeratodermia variabilis et progressiva 1 9.6 GJB2 GJB3 GJB4 GJB6
45 clouston syndrome 9.6 GJB2 GJB3 GJB4 GJB6
46 auditory system disease 9.6 GJB2 GJB3 GJB6 OTOF
47 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.6 GJB2 GJB3 GJB6 OTOF
48 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.6 GJB2 GJB3 GJB6 OTOF
49 nonsyndromic deafness 9.6 GJB2 GJB3 GJB6 OTOF
50 sensorineural hearing loss 9.6 GJB2 GJB3 GJB6 OTOF

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:

57
Head And Neck Ears:
hearing loss, sensorineural, prelingual profound
vestibular dysfunction (in some patients)


Clinical features from OMIM:

220290

Human phenotypes related to Deafness, Autosomal Recessive 1a:

32
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 8.92 GJB2 GJB3 GJB6 OTOF

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:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 1a 29 GJB2 GJB3 GJB6
2 Deafness, Digenic, Gjb2/gjb6 29
3 Deafness, Digenic, Gjb2/gjb3 29 GJB2 GJB3

Anatomical Context for Deafness, Autosomal Recessive 1a

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

41
Brain, Skin

Publications for Deafness, Autosomal Recessive 1a

Articles related to Deafness, Autosomal Recessive 1a:

# Title Authors Year
1
Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect. ( 21776002 )
2011

Variations for Deafness, Autosomal Recessive 1a

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

75 (show all 22)
# 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 rs998045226
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 rs779018464
22 GJB2 p.Gly130Asp VAR_069521 rs779018464

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

6 (show top 50) (show all 336)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB6 NM_006783.4(GJB6): c.31G> A (p.Gly11Arg) single nucleotide variant Pathogenic rs104894415 GRCh37 Chromosome 13, 20797589: 20797589
2 GJB6 NM_006783.4(GJB6): c.31G> A (p.Gly11Arg) single nucleotide variant Pathogenic rs104894415 GRCh38 Chromosome 13, 20223450: 20223450
3 GJB2; GJB6 GJB6, 309-KB DEL deletion Pathogenic
4 GJB6 NC_000013.11 deletion Pathogenic GRCh37 Chromosome 13, 20802713: 21034768
5 GJB6 NC_000013.11 deletion Pathogenic GRCh38 Chromosome 13, 20228574: 20460629
6 GJB3 NM_024009.2(GJB3): c.497A> G (p.Asn166Ser) single nucleotide variant Pathogenic rs121908851 GRCh37 Chromosome 1, 35250860: 35250860
7 GJB3 NM_024009.2(GJB3): c.497A> G (p.Asn166Ser) single nucleotide variant Pathogenic rs121908851 GRCh38 Chromosome 1, 34785259: 34785259
8 GJB3 NM_024009.2(GJB3): c.580G> A (p.Ala194Thr) single nucleotide variant Likely benign rs117385606 GRCh37 Chromosome 1, 35250943: 35250943
9 GJB3 NM_024009.2(GJB3): c.580G> A (p.Ala194Thr) single nucleotide variant Likely benign rs117385606 GRCh38 Chromosome 1, 34785342: 34785342
10 GJB2 NM_004004.5(GJB2): c.101T> C (p.Met34Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs35887622 GRCh37 Chromosome 13, 20763620: 20763620
11 GJB2 NM_004004.5(GJB2): c.101T> C (p.Met34Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs35887622 GRCh38 Chromosome 13, 20189481: 20189481
12 GJB2 NM_004004.5(GJB2): c.231G> A (p.Trp77Ter) single nucleotide variant Pathogenic rs80338944 GRCh37 Chromosome 13, 20763490: 20763490
13 GJB2 NM_004004.5(GJB2): c.231G> A (p.Trp77Ter) single nucleotide variant Pathogenic rs80338944 GRCh38 Chromosome 13, 20189351: 20189351
14 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh37 Chromosome 13, 20763650: 20763650
15 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh38 Chromosome 13, 20189511: 20189511
16 GJB2 NM_004004.5(GJB2): c.229T> C (p.Trp77Arg) single nucleotide variant Pathogenic rs104894397 GRCh37 Chromosome 13, 20763492: 20763492
17 GJB2 NM_004004.5(GJB2): c.229T> C (p.Trp77Arg) single nucleotide variant Pathogenic rs104894397 GRCh38 Chromosome 13, 20189353: 20189353
18 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
19 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh38 Chromosome 13, 20189547: 20189547
20 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
21 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh38 Chromosome 13, 20189443: 20189443
22 GJB2 NM_004004.5(GJB2): c.358_360delGAG (p.Glu120del) deletion Pathogenic rs80338947 GRCh37 Chromosome 13, 20763361: 20763363
23 GJB2 NM_004004.5(GJB2): c.358_360delGAG (p.Glu120del) deletion Pathogenic rs80338947 GRCh38 Chromosome 13, 20189222: 20189224
24 GJB2 NM_004004.5(GJB2): c.551G> C (p.Arg184Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338950 GRCh37 Chromosome 13, 20763170: 20763170
25 GJB2 NM_004004.5(GJB2): c.551G> C (p.Arg184Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338950 GRCh38 Chromosome 13, 20189031: 20189031
26 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh37 Chromosome 13, 20763294: 20763294
27 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh38 Chromosome 13, 20189155: 20189155
28 GJB2 NM_004004.5(GJB2): c.167delT (p.Leu56Argfs) deletion Pathogenic rs80338942 GRCh37 Chromosome 13, 20763554: 20763554
29 GJB2 NM_004004.5(GJB2): c.167delT (p.Leu56Argfs) deletion Pathogenic rs80338942 GRCh38 Chromosome 13, 20189415: 20189415
30 GJB2 NM_004004.5(GJB2): c.51_62delCACCAGCATTGGinsA (p.Thr18Lysfs) indel Pathogenic rs886037624 GRCh37 Chromosome 13, 20763659: 20763670
31 GJB2 NM_004004.5(GJB2): c.51_62delCACCAGCATTGGinsA (p.Thr18Lysfs) indel Pathogenic rs886037624 GRCh38 Chromosome 13, 20189520: 20189531
32 GJB2 NM_004004.5(GJB2): c.235delC (p.Leu79Cysfs) deletion Pathogenic rs80338943 GRCh37 Chromosome 13, 20763486: 20763486
33 GJB2 NM_004004.5(GJB2): c.235delC (p.Leu79Cysfs) deletion Pathogenic rs80338943 GRCh38 Chromosome 13, 20189347: 20189347
34 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
35 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh38 Chromosome 13, 20189313: 20189313
36 GJB2 NM_004004.5(GJB2): c.428G> A (p.Arg143Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894401 GRCh37 Chromosome 13, 20763293: 20763293
37 GJB2 NM_004004.5(GJB2): c.428G> A (p.Arg143Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894401 GRCh38 Chromosome 13, 20189154: 20189154
38 GJB2 NM_004004.5(GJB2): c.148G> A (p.Asp50Asn) single nucleotide variant Pathogenic rs28931594 GRCh37 Chromosome 13, 20763573: 20763573
39 GJB2 NM_004004.5(GJB2): c.148G> A (p.Asp50Asn) single nucleotide variant Pathogenic rs28931594 GRCh38 Chromosome 13, 20189434: 20189434
40 GJB2 NM_004004.5(GJB2): c.109G> A (p.Val37Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72474224 GRCh37 Chromosome 13, 20763612: 20763612
41 GJB2 NM_004004.5(GJB2): c.109G> A (p.Val37Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72474224 GRCh38 Chromosome 13, 20189473: 20189473
42 GJB2 NM_004004.5(GJB2): c.476A> T (p.Asp159Val) single nucleotide variant Uncertain significance rs28931592 GRCh37 Chromosome 13, 20763245: 20763245
43 GJB2 NM_004004.5(GJB2): c.476A> T (p.Asp159Val) single nucleotide variant Uncertain significance rs28931592 GRCh38 Chromosome 13, 20189106: 20189106
44 GJB2 NM_004004.5(GJB2): c.280_284dupCACGT (p.Ala96Thrfs) duplication Pathogenic rs886037625 GRCh37 Chromosome 13, 20763437: 20763441
45 GJB2 NM_004004.5(GJB2): c.280_284dupCACGT (p.Ala96Thrfs) duplication Pathogenic rs886037625 GRCh38 Chromosome 13, 20189298: 20189302
46 GJB2 NM_004004.5(GJB2): c.224G> A (p.Arg75Gln) single nucleotide variant Pathogenic rs28931593 GRCh37 Chromosome 13, 20763497: 20763497
47 GJB2 NM_004004.5(GJB2): c.224G> A (p.Arg75Gln) single nucleotide variant Pathogenic rs28931593 GRCh38 Chromosome 13, 20189358: 20189358
48 GJB2 NM_004004.5(GJB2): c.-23+1G> A single nucleotide variant Pathogenic rs80338940 GRCh37 Chromosome 13, 20766921: 20766921
49 GJB2 NM_004004.5(GJB2): c.-23+1G> A single nucleotide variant Pathogenic rs80338940 GRCh38 Chromosome 13, 20192782: 20192782
50 GJB2 NM_004004.5(GJB2): c.250G> C (p.Val84Leu) single nucleotide variant Pathogenic rs104894409 GRCh37 Chromosome 13, 20763471: 20763471

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:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.55 GJB2 GJB3 GJB4 GJB6 OTOF
2 gap junction GO:0005921 9.26 GJB2 GJB3 GJB4 GJB6
3 connexin complex GO:0005922 8.92 GJB2 GJB3 GJB4 GJB6

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

# Name GO ID Score Top Affiliating Genes
1 inner ear development GO:0048839 9.16 GJB2 GJB6
2 sensory perception of sound GO:0007605 9.13 GJB2 GJB6 OTOF
3 cell communication GO:0007154 8.92 GJB2 GJB3 GJB4 GJB6

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

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.62 GJB2 GJB3

Sources for Deafness, Autosomal Recessive 1a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
35 ICD9CM
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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