DFNB1B
MCID: DFN103
MIFTS: 39

Deafness, Autosomal Recessive 1b (DFNB1B)

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

Aliases & Classifications for Deafness, Autosomal Recessive 1b

MalaCards integrated aliases for Deafness, Autosomal Recessive 1b:

Name: Deafness, Autosomal Recessive 1b 57 29 13 6 70
Dfnb1b 57 12 72
Autosomal Recessive Nonsyndromic Deafness 1b 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1 72
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1 72
Deafness Neurosensory Autosomal Recessive 1 72
Deafness, Autosomal Recessive, Type 1b 39
Autosomal Recessive Deafness Type 1b 29
Deafness, Autosomal Recessive, 1b 72
Autosomal Recessive Deafness 1b 12
Deafness Digenic Gjb2/gjb6 72
Nsrd1 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
about half of patients with gjb2/gjb6 deafness report vestibular symptoms


HPO:

31
deafness, autosomal recessive 1b:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110476
OMIM® 57 612645
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C2675235
UMLS 70 C2675235

Summaries for Deafness, Autosomal Recessive 1b

UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 1B: 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 1b, also known as dfnb1b, is related to deafness, autosomal recessive 1a and deafness, autosomal dominant 3a. An important gene associated with Deafness, Autosomal Recessive 1b is GJB6 (Gap Junction Protein Beta 6), and among its related pathways/superpathways is Gap junction trafficking. Affiliated tissues include skin, and related phenotypes are vestibular dysfunction and hearing impairment

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 GJB6 gene on chromosome 13q12.

More information from OMIM: 612645 PS220290

Related Diseases for Deafness, Autosomal Recessive 1b

Diseases in the Rare Deafness family:

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 Deafness, Autosomal Dominant 75
Deafness, Autosomal Dominant 76 Deafness, Autosomal Dominant 77
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
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 Dominant Nonsyndromic Deafness 78 Autosomal Dominant Nonsyndromic Deafness 79
Autosomal Recessive Nonsyndromic Deafness 116 Autosomal Dominant Nonsyndromic Deafness 74
Autosomal Dominant Nonsyndromic Deafness 75 Autosomal Dominant Nonsyndromic Deafness 76
Autosomal Dominant Nonsyndromic Deafness 77 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

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

(show top 50) (show all 98)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 1a 31.1 STRC GJB6 GJB3 GJB2 CRYL1
2 deafness, autosomal dominant 3a 30.1 GJB6 GJB3 GJB2
3 deafness, autosomal dominant nonsyndromic sensorineural 3 11.0
4 nonsyndromic hearing loss and deafness, dfna3 10.3 GJB6 GJB2
5 deafness, autosomal recessive 7 10.3 MYO15A GJB2
6 purulent labyrinthitis 10.3 GJB6 GJB2
7 labyrinthitis 10.3 GJB6 GJB2
8 viral labyrinthitis 10.3 GJB6 GJB2
9 hypotrichosis-deafness syndrome 10.3 GJB3 GJB2
10 deafness, autosomal recessive 9 10.3 MYO15A GJB2
11 congenital cytomegalovirus 10.3 GJB6 GJB2
12 deafness, autosomal recessive 2 10.3 MYO15A GJB2
13 hereditary lymphedema ic 10.3 GJB3 GJB2
14 erythrokeratoderma 10.3 GJB3 GJB2
15 deafness, autosomal dominant 2b 10.3 GJB3 GJB2
16 drug-induced hearing loss 10.2 GJB3 GJB2
17 deafness, autosomal recessive 8 10.2 MYO15A GJB2
18 deafness, autosomal recessive 3 10.2 MYO15A GJB2
19 deafness, autosomal dominant 6 10.2 MYO15A GJB2
20 deafness, autosomal recessive 39 10.2 STRC GJB2
21 deafness, autosomal dominant 16 10.2 STRC GJB3
22 keratitis-ichthyosis-deafness syndrome, autosomal dominant 10.2 GJB6 GJB2
23 deafness, autosomal dominant 64 10.2 GJB2 CEACAM16
24 deafness, autosomal recessive 84b 10.2 STRC CEACAM16
25 deafness, autosomal recessive 22 10.2 STRC MYO15A
26 pseudoainhum 10.2 GJB6 GJB3 GJB2
27 nonsyndromic hearing loss and deafness, dfnb1 10.2 GJB6 GJB3 GJB2
28 dfnb1 10.2 GJB6 GJB3 GJB2
29 knuckle pads 10.2 GJB6 GJB3 GJB2
30 bart-pumphrey syndrome 10.2 GJB6 GJB3 GJB2
31 deafness, autosomal dominant 17 10.2 TPRN MYO15A
32 palmoplantar keratoderma and congenital alopecia 1 10.1 GJB6 GJB3 GJB2
33 deafness, autosomal recessive 24 10.1 TPRN MYO15A
34 deafness, autosomal dominant 9 10.1 GJB6 GJB3 GJB2
35 clouston syndrome 10.1 GJB6 GJB3 GJB2
36 deafness, autosomal dominant 11 10.1 MYO15A GJB2
37 oculodentodigital dysplasia 10.1 GJB6 GJB3 GJB2
38 vohwinkel syndrome 10.1 GJB6 GJB3 GJB2
39 deafness, autosomal recessive 37 10.1 TPRN MYO15A
40 erythrokeratodermia variabilis et progressiva 1 10.1 GJB6 GJB3 GJB2
41 deafness, autosomal recessive 66 10.1 STRC CEACAM16
42 y-linked deafness 10.1 STRC POU3F4
43 deafness, autosomal recessive 23 10.1 MYO15A GJB2
44 y-linked monogenic disease 10.1 STRC POU3F4
45 deafness, autosomal recessive 91 10.1 TPRN GJB3 GJB2
46 deafness, autosomal dominant 22 10.1 TPRN MYO15A
47 deafness, autosomal recessive 16 10.1 STRC MYO15A GJB2
48 deafness, autosomal recessive 15 10.1 MYO15A CEACAM16
49 usher syndrome, type if 10.1 STRC MYO15A
50 autosomal recessive nonsyndromic deafness 3 10.1 TPRN MYO15A GJB2

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



Diseases related to Deafness, Autosomal Recessive 1b

Symptoms & Phenotypes for Deafness, Autosomal Recessive 1b

Human phenotypes related to Deafness, Autosomal Recessive 1b:

31
# Description HPO Frequency HPO Source Accession
1 vestibular dysfunction 31 occasional (7.5%) HP:0001751
2 hearing impairment 31 HP:0000365

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, sensorineural, prelingual profound
vestibular dysfunction (in some patients)

Clinical features from OMIM®:

612645 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.28 CEACAM16 ESPN GJB2 GJB3 GJB6 MYO15A

Drugs & Therapeutics for Deafness, Autosomal Recessive 1b

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

Genetic Tests for Deafness, Autosomal Recessive 1b

Genetic tests related to Deafness, Autosomal Recessive 1b:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 1b 29 GJB6
2 Autosomal Recessive Deafness Type 1b 29

Anatomical Context for Deafness, Autosomal Recessive 1b

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

40
Skin

Publications for Deafness, Autosomal Recessive 1b

Articles related to Deafness, Autosomal Recessive 1b:

(show all 27)
# Title Authors PMID Year
1
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. 57 6
11807148 2002
2
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 6
32576985 2020
3
[A gene study of a family with hidrotic ectodermal dysplasia]. 6
27817781 2016
4
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia. 6
27137747 2016
5
Immune system disturbances in Clouston syndrome. 6
26551294 2016
6
A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia. 6
24514865 2014
7
The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice. 6
24685692 2014
8
Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies. 6
24522190 2014
9
Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia. 6
23863883 2013
10
Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia. 6
23981984 2013
11
[Mutation analysis and first-trimester prenatal diagnosis for a Chinese family with hidrotic ectodermal dysplasia]. 6
23926005 2013
12
Vestibular dysfunction in DFNB1 deafness. 57
21465647 2011
13
Infant hearing loss and connexin testing in a diverse population. 57
18580690 2008
14
Infrequency of two deletion mutations at the DFNB1 locus in patients and controls. 6
18324688 2008
15
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls. 6
17041943 2006
16
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. 6
15994881 2005
17
Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis. 6
15769851 2005
18
Double heterozygosity with mutations involving both the GJB2 and GJB6 genes is a possible, but very rare, cause of congenital deafness in the Czech population. 6
15638823 2005
19
Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity. 6
15213106 2004
20
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. 6
14571368 2003
21
Clouston syndrome can mimic pachyonychia congenita. 6
14708603 2003
22
A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia. 6
12788524 2003
23
Functional studies of human skin disease- and deafness-associated connexin 30 mutations. 6
12419304 2002
24
A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect? 57
11896458 2002
25
Mutations in GJB6 cause hidrotic ectodermal dysplasia. 6
11017065 2000
26
Neurosensory hearing loss in secondary adhalinopathy. 61
8677023 1996
27
A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval. 61
7881423 1994

Variations for Deafness, Autosomal Recessive 1b

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

6 (show all 36)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 2 genes GRCh37/hg19 13q12.11(chr13:20803674-21030220) copy number loss Pathogenic 915994 GRCh37: 13:20803674-21030220
GRCh38:
2 GJB2 , GJB6 del(GJB6-D13S1830) Deletion Pathogenic 5546 GRCh37:
GRCh38:
3 GJB6 NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) SNV Pathogenic 5545 rs28937872 GRCh37: 13:20797357-20797357
GRCh38: 13:20223218-20223218
4 GJB6 NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) SNV Pathogenic 5544 rs104894415 GRCh37: 13:20797589-20797589
GRCh38: 13:20223450-20223450
5 GJB6 NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) SNV Pathogenic 5544 rs104894415 GRCh37: 13:20797589-20797589
GRCh38: 13:20223450-20223450
6 GJB2 NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) SNV Pathogenic 44749 rs76434661 GRCh37: 13:20763305-20763305
GRCh38: 13:20189166-20189166
7 GJB2 NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) SNV Pathogenic 44763 rs111033294 GRCh37: 13:20763104-20763104
GRCh38: 13:20188965-20188965
8 GJB2 NM_004004.6(GJB2):c.313_326del (p.Lys105fs) Deletion Pathogenic 44737 rs111033253 GRCh37: 13:20763395-20763408
GRCh38: 13:20189256-20189269
9 GJB2 NM_004004.6(GJB2):c.299_300del (p.His100fs) Deletion Pathogenic 44736 rs111033204 GRCh37: 13:20763421-20763422
GRCh38: 13:20189282-20189283
10 GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) SNV Pathogenic 17016 rs80338945 GRCh37: 13:20763452-20763452
GRCh38: 13:20189313-20189313
11 GJB2 NM_004004.6(GJB2):c.235del (p.Leu79fs) Deletion Pathogenic 17014 rs80338943 GRCh37: 13:20763486-20763486
GRCh38: 13:20189347-20189347
12 GJB2 NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) SNV Pathogenic 17001 rs80338944 GRCh37: 13:20763490-20763490
GRCh38: 13:20189351-20189351
13 GJB2 NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) SNV Pathogenic 17003 rs104894397 GRCh37: 13:20763492-20763492
GRCh38: 13:20189353-20189353
14 GJB2 NM_004004.6(GJB2):c.167del (p.Leu56fs) Deletion Pathogenic 17010 rs80338942 GRCh37: 13:20763554-20763554
GRCh38: 13:20189415-20189415
15 GJB2 NM_004004.6(GJB2):c.109G>A (p.Val37Ile) SNV Pathogenic 17023 rs72474224 GRCh37: 13:20763612-20763612
GRCh38: 13:20189473-20189473
16 GJB2 NM_004004.6(GJB2):c.101T>C (p.Met34Thr) SNV Pathogenic 17000 rs35887622 GRCh37: 13:20763620-20763620
GRCh38: 13:20189481-20189481
17 GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) SNV Pathogenic 17002 rs104894396 GRCh37: 13:20763650-20763650
GRCh38: 13:20189511-20189511
18 GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs) Deletion Pathogenic 17004 rs80338939 GRCh37: 13:20763686-20763686
GRCh38: 13:20189547-20189547
19 GJB2 NM_004004.6(GJB2):c.-23+1G>A SNV Pathogenic 17029 rs80338940 GRCh37: 13:20766921-20766921
GRCh38: 13:20192782-20192782
20 GJB2 NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) SNV Likely pathogenic 44740 rs104894408 GRCh37: 13:20763687-20763687
GRCh38: 13:20189548-20189548
21 GJB2 NM_004004.6(GJB2):c.445G>A (p.Ala149Thr) SNV Likely pathogenic 44751 rs111033225 GRCh37: 13:20763276-20763276
GRCh38: 13:20189137-20189137
22 GJB6 NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe) SNV Uncertain significance 426683 rs750540794 GRCh37: 13:20797441-20797441
GRCh38: 13:20223302-20223302
23 GJB6 NM_001110219.3(GJB6):c.518C>T (p.Pro173Leu) SNV Uncertain significance 969013 GRCh37: 13:20797102-20797102
GRCh38: 13:20222963-20222963
24 overlap with 10 genes NC_000013.10:g.(?_20716100)_(21398980_?)dup Duplication Uncertain significance 656832 GRCh37: 13:20716100-21398980
GRCh38: 13:20141961-20824841
25 GJB6 NM_001110219.3(GJB6):c.301G>C (p.Glu101Gln) SNV Uncertain significance 663718 rs571454176 GRCh37: 13:20797319-20797319
GRCh38: 13:20223180-20223180
26 GJB6 NM_001110219.3(GJB6):c.301G>A (p.Glu101Lys) SNV Uncertain significance 225377 rs571454176 GRCh37: 13:20797319-20797319
GRCh38: 13:20223180-20223180
27 GJB6 NM_001110219.3(GJB6):c.631T>G (p.Cys211Gly) SNV Uncertain significance 536989 rs141752846 GRCh37: 13:20796989-20796989
GRCh38: 13:20222850-20222850
28 GJB6 NM_001110219.3(GJB6):c.63del (p.Lys22fs) Deletion Uncertain significance 311382 rs770612890 GRCh37: 13:20797557-20797557
GRCh38: 13:20223418-20223418
29 GJB6 NM_001110219.3(GJB6):c.352A>G (p.Ile118Val) SNV Uncertain significance 1043052 GRCh37: 13:20797268-20797268
GRCh38: 13:20223129-20223129
30 GJB6 NM_001110219.3(GJB6):c.228del (p.Trp77fs) Deletion Uncertain significance 837505 GRCh37: 13:20797392-20797392
GRCh38: 13:20223253-20223253
31 GJB6 NM_001110219.3(GJB6):c.60C>T (p.Ile20=) SNV Likely benign 311383 rs778513540 GRCh37: 13:20797560-20797560
GRCh38: 13:20223421-20223421
32 GJB6 NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser) SNV Likely benign 45502 rs35277762 GRCh37: 13:20797144-20797144
GRCh38: 13:20223005-20223005
33 GJB6 NM_001110219.3(GJB6):c.177A>G (p.Gly59=) SNV Likely benign 196442 rs371123633 GRCh37: 13:20797443-20797443
GRCh38: 13:20223304-20223304
34 GJB6 NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys) SNV Benign 188490 rs143766955 GRCh37: 13:20797281-20797281
GRCh38: 13:20223142-20223142
35 GJB6 NM_001110219.3(GJB6):c.489G>A (p.Leu163=) SNV Benign 45503 rs35002004 GRCh37: 13:20797131-20797131
GRCh38: 13:20222992-20222992
36 GJB6 NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) SNV Benign 45504 rs111033338 GRCh37: 13:20797025-20797025
GRCh38: 13:20222886-20222886

Expression for Deafness, Autosomal Recessive 1b

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

Pathways for Deafness, Autosomal Recessive 1b

Pathways related to Deafness, Autosomal Recessive 1b according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.79 GJB6 GJB3 GJB2

GO Terms for Deafness, Autosomal Recessive 1b

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

# Name GO ID Score Top Affiliating Genes
1 gap junction GO:0005921 9.43 GJB6 GJB3 GJB2
2 connexin complex GO:0005922 9.33 GJB6 GJB3 GJB2
3 stereocilium tip GO:0032426 9.13 STRC ESPN CEACAM16
4 stereocilium GO:0032420 8.92 TPRN STRC MYO15A ESPN

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

# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.61 GJB6 GJB3 GJB2
2 auditory receptor cell stereocilium organization GO:0060088 9.4 TPRN STRC
3 gap junction assembly GO:0016264 9.37 GJB6 GJB2
4 inner ear development GO:0048839 9.33 POU3F4 GJB6 GJB2
5 cell communication by electrical coupling GO:0010644 9.32 GJB6 GJB2
6 gap junction-mediated intercellular transport GO:1990349 9.26 GJB6 GJB2
7 sensory perception of sound GO:0007605 9.23 TPRN STRC POU3F4 MYO15A GJB6 GJB2
8 cell communication GO:0007154 9.13 GJB6 GJB3 GJB2

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.33 MYO15A GJB6 ESPN
2 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 8.96 GJB6 GJB2
3 gap junction channel activity GO:0005243 8.8 GJB6 GJB3 GJB2

Sources for Deafness, Autosomal Recessive 1b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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