MCID: DFN097
MIFTS: 38

Deafness, Autosomal Recessive 1a

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

Aliases & Classifications for Deafness, Autosomal Recessive 1a

MalaCards integrated aliases for Deafness, Autosomal Recessive 1a:

Name: Deafness, Autosomal Recessive 1a 53 28 13 69
Dfnb1a 53 12 71
Autosomal Recessive Nonsyndromic Deafness 1a 12 14
Deafness, Digenic, Gjb2/gjb3 53 28
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 28
Deafness, Digenic Gjb2/gjb6 53
Deafness Digenic Gjb2/gjb3 71
Deafness Digenic Gjb2/gjb6 71
Nsrd1 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive
digenic dominant

Miscellaneous:
about half of patients report vestibular symptoms


HPO:

31
deafness, autosomal recessive 1a:
Inheritance autosomal recessive inheritance digenic inheritance


Classifications:



External Ids:

OMIM 53 220290
Disease Ontology 12 DOID:0110475
ICD10 32 H90.3
MeSH 41 D006319
SNOMED-CT via HPO 65 258211005 60700002
UMLS 69 C2673759

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 dfnb1a, is related to deafness, autosomal recessive 1b and deafness, autosomal dominant 24, 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 G-Beta Gamma Signaling. Affiliated tissues include brain, and related phenotypes are integument and no phenotypic analysis

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 32 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 Recessive 105 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 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 1b 31.8 GJB2 GJB6
2 deafness, autosomal dominant 24 10.0 GJB2 GJB6
3 deafness, x-linked 2 10.0 GJB2 GJB6
4 knuckle pads, leukonychia, and sensorineural deafness 10.0 GJB2 GJB6
5 branchiootic syndrome 1 9.9
6 congenital cytomegalovirus 9.9 GJB2 GJB6
7 dfnb1 9.9 GJB2 GJB6
8 vohwinkel syndrome 9.9 GJB2 GJB6
9 non-syndromic genetic deafness 9.9 GJB2 GJB6
10 deafness, autosomal recessive 16 9.9 GJB2 GJB6
11 deafness, autosomal dominant 2a 9.8 GJB2 GJB6
12 hypotrichosis-deafness syndrome 9.8 GJB2 GJB3
13 deafness, autosomal recessive 93 9.7 GJB2 GJB3
14 keratitis, hereditary 9.7 GJB2 GJB6
15 deafness, autosomal recessive 28 9.7 GJB2 GJB3
16 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 9.7 GJB2 GJB3
17 corneal disease 9.7 GJB2 GJB6
18 deafness, autosomal recessive 67 9.6 GJB2 GJB3
19 palmoplantar keratosis 9.6 GJB2 GJB3
20 kid syndrome 9.4 GJB2 GJB3 GJB6
21 pseudoainhum 9.4 GJB2 GJB3 GJB6
22 hodgkin's lymphoma, nodular sclerosis 9.4 GJB2 GJB3 GJB6
23 knuckle pads 9.4 GJB2 GJB3 GJB6
24 vestibular disease 9.4 GJB2 GJB3 GJB6
25 erythrokeratodermia variabilis et progressiva 1 9.4 GJB2 GJB3 GJB6
26 autosomal dominant non-syndromic sensorineural deafness type dfna 9.4 GJB2 GJB3 GJB6
27 clouston syndrome 9.4 GJB2 GJB3 GJB6
28 deafness, autosomal recessive 12 9.4 GJB2 GJB3 GJB6
29 inner ear disease 9.4 GJB2 GJB3 GJB6
30 auditory system disease 9.4 GJB2 GJB3 GJB6
31 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.4 GJB2 GJB3 GJB6
32 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.4 GJB2 GJB3 GJB6
33 sensorineural hearing loss 9.4 GJB2 GJB3 GJB6
34 skin disease 9.4 GJB2 GJB3 GJB6
35 nonsyndromic deafness 9.4 GJB2 GJB3 GJB6
36 deafness, autosomal recessive 9.3 GJB2 GJB3

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:

53
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:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 vestibular dysfunction 31 occasional (7.5%) HP:0001751

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.13 GJB2 GJB3 GJB6
2 no phenotypic analysis MP:0003012 8.8 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:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 1a 28 GJB2 GJB3 GJB6
2 Deafness, Digenic, Gjb2/gjb6 28
3 Deafness, Digenic, Gjb2/gjb3 28 GJB2 GJB3

Anatomical Context for Deafness, Autosomal Recessive 1a

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

38
Brain

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:

71 (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 74)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.231G> A (p.Trp77Ter) single nucleotide variant Pathogenic rs80338944 GRCh37 Chromosome 13, 20763490: 20763490
2 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh37 Chromosome 13, 20763650: 20763650
3 GJB2 NM_004004.5(GJB2): c.229T> C (p.Trp77Arg) single nucleotide variant Pathogenic rs104894397 GRCh37 Chromosome 13, 20763492: 20763492
4 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
5 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
6 GJB2 NM_004004.5(GJB2): c.358_360delGAG (p.Glu120del) deletion Pathogenic rs80338947 GRCh37 Chromosome 13, 20763361: 20763363
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.51_62delCACCAGCATTGGinsA (p.Thr18Lysfs) indel Pathogenic rs886037624 GRCh37 Chromosome 13, 20763659: 20763670
10 GJB2 NM_004004.5(GJB2): c.235delC (p.Leu79Cysfs) deletion Pathogenic rs80338943 GRCh37 Chromosome 13, 20763486: 20763486
11 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
12 GJB2 NM_004004.5(GJB2): c.428G> A (p.Arg143Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894401 GRCh37 Chromosome 13, 20763293: 20763293
13 GJB2 NM_004004.5(GJB2): c.148G> A (p.Asp50Asn) single nucleotide variant Pathogenic rs28931594 GRCh37 Chromosome 13, 20763573: 20763573
14 GJB2 NM_004004.5(GJB2): c.476A> T (p.Asp159Val) single nucleotide variant Pathogenic rs28931592 GRCh37 Chromosome 13, 20763245: 20763245
15 GJB2 NM_004004.5(GJB2): c.280_284dupCACGT (p.Ala96Thrfs) duplication Pathogenic rs886037625 GRCh37 Chromosome 13, 20763437: 20763441
16 GJB2 NM_004004.5(GJB2): c.224G> A (p.Arg75Gln) single nucleotide variant Pathogenic rs28931593 GRCh37 Chromosome 13, 20763497: 20763497
17 GJB2 NM_004004.5(GJB2): c.-23+1G> A single nucleotide variant Pathogenic rs80338940 GRCh37 Chromosome 13, 20766921: 20766921
18 GJB2 NM_004004.5(GJB2): c.250G> C (p.Val84Leu) single nucleotide variant Pathogenic rs104894409 GRCh37 Chromosome 13, 20763471: 20763471
19 GJB2 NM_004004.5(GJB2): c.134G> A (p.Gly45Glu) single nucleotide variant Pathogenic/Likely pathogenic rs72561723 GRCh37 Chromosome 13, 20763587: 20763587
20 GJB2 NM_004004.5(GJB2): c.-260C> T single nucleotide variant Pathogenic rs886037626 GRCh37 Chromosome 13, 20767159: 20767159
21 GJB2 NM_004004.5(GJB2): c.250G> A (p.Val84Met) single nucleotide variant Pathogenic rs104894409 GRCh37 Chromosome 13, 20763471: 20763471
22 GJB2 NM_004004.5(GJB2): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic/Likely pathogenic rs1801002 GRCh37 Chromosome 13, 20763686: 20763686
23 GJB2 NM_004004.5(GJB2): c.169C> T (p.Gln57Ter) single nucleotide variant Pathogenic rs111033297 GRCh37 Chromosome 13, 20763552: 20763552
24 GJB2 NM_004004.5(GJB2): c.19C> T (p.Gln7Ter) single nucleotide variant Likely pathogenic rs111033451 GRCh37 Chromosome 13, 20763702: 20763702
25 GJB2 NM_004004.5(GJB2): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic/Likely pathogenic rs111033299 GRCh37 Chromosome 13, 20763438: 20763438
26 GJB2 NM_004004.5(GJB2): c.299_300delAT (p.His100Argfs) deletion Pathogenic rs111033204 GRCh37 Chromosome 13, 20763421: 20763422
27 GJB2 NM_004004.5(GJB2): c.313_326delAAGTTCATCAAGGG (p.Lys105Glyfs) deletion Pathogenic rs111033253 GRCh37 Chromosome 13, 20763395: 20763408
28 GJB2 NM_004004.5(GJB2): c.31_68del38 (p.Gly11Leufs) deletion Pathogenic/Likely pathogenic rs397516873 GRCh37 Chromosome 13, 20763653: 20763690
29 GJB2 NM_004004.5(GJB2): c.365A> T (p.Lys122Ile) single nucleotide variant Pathogenic/Likely pathogenic rs111033295 GRCh37 Chromosome 13, 20763356: 20763356
30 GJB2 NM_004004.5(GJB2): c.370C> T (p.Gln124Ter) single nucleotide variant Pathogenic rs397516874 GRCh37 Chromosome 13, 20763351: 20763351
31 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh37 Chromosome 13, 20763305: 20763305
32 GJB2 NM_004004.5(GJB2): c.44A> C (p.Lys15Thr) single nucleotide variant Pathogenic/Likely pathogenic rs111033217 GRCh37 Chromosome 13, 20763677: 20763677
33 GJB2 NM_004004.5(GJB2) indel Pathogenic rs111033335 GRCh37 Chromosome 13, 20763121: 20763129
34 GJB2 NM_004004.5(GJB2): c.617A> G (p.Asn206Ser) single nucleotide variant Pathogenic rs111033294 GRCh37 Chromosome 13, 20763104: 20763104
35 GJB2 NM_004004.5(GJB2): c.95G> A (p.Arg32His) single nucleotide variant Pathogenic rs111033190 GRCh37 Chromosome 13, 20763626: 20763626
36 GJB2 NM_004004.5(GJB2): c.35dupG (p.Val13Cysfs) duplication Pathogenic/Likely pathogenic rs398123814 GRCh37 Chromosome 13, 20763686: 20763686
37 GJB2 NM_004004.5(GJB2): c.647_650delGATA (p.Arg216Ilefs) deletion Pathogenic/Likely pathogenic rs587783647 GRCh38 Chromosome 13, 20188932: 20188935
38 GJB2 NM_004004.5(GJB2): c.632_633delGT (p.Cys211Leufs) deletion Pathogenic/Likely pathogenic rs587783646 GRCh38 Chromosome 13, 20188949: 20188950
39 GJB2 NM_004004.5(GJB2): c.298C> T (p.His100Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs143343083 GRCh38 Chromosome 13, 20189284: 20189284
40 GJB2 NM_004004.5(GJB2): c.269dupT (p.Val91Serfs) duplication Pathogenic/Likely pathogenic rs730880338 GRCh37 Chromosome 13, 20763452: 20763452
41 GJB2 NM_004004.5(GJB2): c.239A> C (p.Gln80Pro) single nucleotide variant Likely pathogenic rs727504302 GRCh37 Chromosome 13, 20763482: 20763482
42 GJB2 NM_004004.5(GJB2): c.250G> T (p.Val84Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894409 GRCh37 Chromosome 13, 20763471: 20763471
43 GJB2 NM_004004.5(GJB2): c.598G> T (p.Gly200Ter) single nucleotide variant Likely pathogenic rs786204597 GRCh37 Chromosome 13, 20763123: 20763123
44 GJB2 NM_004004.5(GJB2): c.596C> T (p.Ser199Phe) single nucleotide variant Likely pathogenic rs771748289 GRCh37 Chromosome 13, 20763125: 20763125
45 GJB2 NM_004004.5(GJB2): c.508_511dupAACG (p.Ala171Glufs) duplication Pathogenic/Likely pathogenic rs773528125 GRCh37 Chromosome 13, 20763210: 20763213
46 GJB2 NM_004004.5(GJB2): c.408C> A (p.Tyr136Ter) single nucleotide variant Likely pathogenic rs786204690 GRCh37 Chromosome 13, 20763313: 20763313
47 GJB2 NM_004004.5(GJB2): c.334_335delAA (p.Lys112Glufs) deletion Pathogenic/Likely pathogenic rs756484720 GRCh37 Chromosome 13, 20763386: 20763387
48 GJB2 NM_004004.5(GJB2): c.290dupA (p.Tyr97Terfs) duplication Pathogenic/Likely pathogenic rs786204491 GRCh38 Chromosome 13, 20189292: 20189292
49 GJB2 NM_004004.5(GJB2): c.246C> G (p.Ile82Met) single nucleotide variant Likely pathogenic rs781534323 GRCh38 Chromosome 13, 20189336: 20189336
50 GJB2 NM_004004.5(GJB2): c.230G> A (p.Trp77Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894395 GRCh38 Chromosome 13, 20189352: 20189352

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 9.33 GJB2 GJB3 GJB6
2 gap junction GO:0005921 9.13 GJB2 GJB3 GJB6
3 connexin complex GO:0005922 8.8 GJB2 GJB3 GJB6

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

# Name GO ID Score Top Affiliating Genes
1 response to lipopolysaccharide GO:0032496 9.32 GJB2 GJB6
2 aging GO:0007568 9.26 GJB2 GJB6
3 sensory perception of sound GO:0007605 9.16 GJB2 GJB6
4 inner ear development GO:0048839 8.96 GJB2 GJB6
5 cell communication GO:0007154 8.8 GJB2 GJB3 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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