DFNB1B
MCID: DFN103
MIFTS: 40

Deafness, Autosomal Recessive 1b (DFNB1B)

Categories: Blood diseases, 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 56 29 13 6 71
Dfnb1b 56 12 73
Autosomal Recessive Nonsyndromic Deafness 1b 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1 73
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1 73
Deafness Neurosensory Autosomal Recessive 1 73
Deafness, Autosomal Recessive, Type 1b 39
Autosomal Recessive Deafness Type 1b 29
Deafness, Autosomal Recessive, 1b 73
Autosomal Recessive Deafness 1b 12
Deafness Digenic Gjb2/gjb6 73
Nsrd1 73

Characteristics:

OMIM:

56
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 56 612645
OMIM Phenotypic Series 56 PS220290
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C2675235
UMLS 71 C2675235

Summaries for Deafness, Autosomal Recessive 1b

UniProtKB/Swiss-Prot : 73 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 are G-Beta Gamma Signaling and Myometrial Relaxation and Contraction Pathways. Affiliated tissues include brain and testes, 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 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
Deafness, Autosomal Dominant 75 Deafness, Autosomal Dominant 76
Deafness, Autosomal Dominant 77 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 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 103)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 1a 31.0 STRC GJB6 GJB3 GJB2 GJA3 CRYL1
2 deafness, autosomal dominant 3a 30.6 GJB6 GJB3 GJB2
3 deafness, autosomal dominant nonsyndromic sensorineural 3 11.2
4 nonsyndromic hearing loss and deafness, dfna3 10.4 GJB6 GJB2
5 purulent labyrinthitis 10.4 GJB6 GJB2
6 viral labyrinthitis 10.4 GJB6 GJB2
7 nonsyndromic deafness 10.4 MYO15A GJB2
8 deafness, autosomal recessive 7 10.4 MYO15A GJB2
9 congenital cytomegalovirus 10.4 GJB6 GJB2
10 hypotrichosis-deafness syndrome 10.4 GJB3 GJB2
11 deafness, autosomal recessive 9 10.4 MYO15A GJB2
12 deafness, autosomal recessive 2 10.4 MYO15A GJB2
13 keratitis-ichthyosis-deafness syndrome, autosomal dominant 10.4 GJB6 GJB2
14 palmoplantar keratoderma and congenital alopecia 1 10.4 GJB3 GJB2
15 erythrokeratoderma 10.3 GJB3 GJB2
16 deafness, autosomal dominant 2b 10.3 GJB3 GJB2
17 deafness, autosomal recessive 3 10.3 MYO15A GJB2
18 deafness, autosomal recessive 8 10.3 MYO15A GJB2
19 drug-induced hearing loss 10.3 GJB3 GJB2
20 deafness, autosomal dominant 16 10.3 STRC GJB3
21 deafness, autosomal recessive 39 10.3 STRC GJB2
22 deafness, autosomal dominant 9 10.3 GJB3 GJB2
23 deafness, autosomal dominant 36 10.2 MYO15A GJB2
24 deafness, autosomal dominant 4b 10.2 GJB3 CEACAM16
25 deafness, autosomal recessive 84b 10.2 STRC CEACAM16
26 deafness, autosomal dominant 64 10.2 GJB2 CEACAM16
27 branchiootic syndrome 1 10.2
28 nonsyndromic hearing loss and deafness, dfnb1 10.2 GJB6 GJB3 GJB2
29 dfnb1 10.2 GJB6 GJB3 GJB2
30 pseudoainhum 10.2 GJB6 GJB3 GJB2
31 deafness, autosomal recessive 61 10.2 TPRN STRC
32 bart-pumphrey syndrome 10.2 GJB6 GJB3 GJB2
33 knuckle pads 10.2 GJB6 GJB3 GJB2
34 clouston syndrome 10.2 GJB6 GJB3 GJB2
35 deafness, autosomal dominant 11 10.2 MYO15A GJB2
36 vohwinkel syndrome 10.2 GJB6 GJB3 GJB2
37 palmoplantar keratosis 10.2 GJB6 GJB3 GJB2
38 y-linked deafness 10.2 STRC POU3F4
39 usher syndrome, type iia 10.2 STRC GJB2
40 deafness, autosomal dominant 17 10.2 TPRN MYO15A
41 deafness, autosomal recessive 66 10.2 STRC CEACAM16
42 inner ear disease 10.2 GJB6 GJB3 GJB2
43 y-linked monogenic disease 10.2 STRC POU3F4
44 deafness, autosomal recessive 24 10.1 TPRN MYO15A
45 deafness, autosomal recessive 37 10.1 TPRN MYO15A
46 pendred syndrome 10.1 MYO15A GJB6 GJB2
47 usher syndrome, type if 10.1 STRC MYO15A
48 deafness, autosomal recessive 15 10.1 MYO15A CEACAM16
49 deafness, autosomal dominant 22 10.1 TPRN MYO15A
50 hereditary lymphedema ic 10.1 GJB3 GJB2 GJA3

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:

56
Head And Neck Ears:
hearing loss, sensorineural, prelingual profound
vestibular dysfunction (in some patients)

Clinical features from OMIM:

612645

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

45
# 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
Brain, Testes

Publications for Deafness, Autosomal Recessive 1b

Articles related to Deafness, Autosomal Recessive 1b:

(show all 11)
# Title Authors PMID Year
1
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. 6 56
11807148 2002
2
Vestibular dysfunction in DFNB1 deafness. 56
21465647 2011
3
Infant hearing loss and connexin testing in a diverse population. 56
18580690 2008
4
Infrequency of two deletion mutations at the DFNB1 locus in patients and controls. 6
18324688 2008
5
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
6
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
7
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
8
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. 6
14571368 2003
9
A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect? 56
11896458 2002
10
Neurosensory hearing loss in secondary adhalinopathy. 61
8677023 1996
11
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 31) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GJB6 NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)SNV Pathogenic 5544 rs104894415 13:20797589-20797589 13:20223450-20223450
2 GJB6 NM_001110219.3(GJB6):c.263C>T (p.Ala88Val)SNV Pathogenic 5545 rs28937872 13:20797357-20797357 13:20223218-20223218
3 GJB2 , GJB6 del(GJB6-D13S1830)deletion Pathogenic 5546
4 GJB2 NM_004004.6(GJB2):c.101T>C (p.Met34Thr)SNV Pathogenic 17000 rs35887622 13:20763620-20763620 13:20189481-20189481
5 GJB2 NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)SNV Pathogenic 17001 rs80338944 13:20763490-20763490 13:20189351-20189351
6 GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)SNV Pathogenic 17002 rs104894396 13:20763650-20763650 13:20189511-20189511
7 GJB2 NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)SNV Pathogenic 17003 rs104894397 13:20763492-20763492 13:20189353-20189353
8 GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs)deletion Pathogenic 17004 rs80338939 13:20763686-20763686 13:20189547-20189547
9 GJB2 NM_004004.6(GJB2):c.167del (p.Leu56fs)deletion Pathogenic 17010 rs80338942 13:20763554-20763554 13:20189415-20189415
10 GJB2 NM_004004.6(GJB2):c.235del (p.Leu79fs)deletion Pathogenic 17014 rs80338943 13:20763486-20763486 13:20189347-20189347
11 GJB2 NM_004004.6(GJB2):c.109G>A (p.Val37Ile)SNV Pathogenic 17023 rs72474224 13:20763612-20763612 13:20189473-20189473
12 GJB2 NM_004004.6(GJB2):c.-23+1G>ASNV Pathogenic 17029 rs80338940 13:20766921-20766921 13:20192782-20192782
13 GJB2 NM_004004.6(GJB2):c.299_300del (p.His100fs)deletion Pathogenic 44736 rs111033204 13:20763421-20763422 13:20189282-20189283
14 GJB2 NM_004004.6(GJB2):c.313_326del (p.Lys105fs)deletion Pathogenic 44737 rs111033253 13:20763395-20763408 13:20189256-20189269
15 GJB2 NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)SNV Pathogenic 44763 rs111033294 13:20763104-20763104 13:20188965-20188965
16 GJB2 NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)SNV Likely pathogenic 44740 rs104894408 13:20763687-20763687 13:20189548-20189548
17 GJB2 NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)SNV Conflicting interpretations of pathogenicity 44749 rs76434661 13:20763305-20763305 13:20189166-20189166
18 GJB2 NM_004004.6(GJB2):c.445G>A (p.Ala149Thr)SNV Conflicting interpretations of pathogenicity 44751 rs111033225 13:20763276-20763276 13:20189137-20189137
19 GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)SNV Conflicting interpretations of pathogenicity 17016 rs80338945 13:20763452-20763452 13:20189313-20189313
20 GJB6 NM_001110219.3(GJB6):c.489G>A (p.Leu163=)SNV Conflicting interpretations of pathogenicity 45503 rs35002004 13:20797131-20797131 13:20222992-20222992
21 GJB6 NM_001110219.3(GJB6):c.177A>G (p.Gly59=)SNV Conflicting interpretations of pathogenicity 196442 rs371123633 13:20797443-20797443 13:20223304-20223304
22 GJB6 NM_001110219.3(GJB6):c.60C>T (p.Ile20=)SNV Conflicting interpretations of pathogenicity 311383 rs778513540 13:20797560-20797560 13:20223421-20223421
23 GJB6 NM_001110219.3(GJB6):c.301G>A (p.Glu101Lys)SNV Uncertain significance 225377 rs571454176 13:20797319-20797319 13:20223180-20223180
24 GJB6 NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe)SNV Uncertain significance 426683 rs750540794 13:20797441-20797441 13:20223302-20223302
25 GJB6 NM_001110219.3(GJB6):c.631T>G (p.Cys211Gly)SNV Uncertain significance 536989 rs141752846 13:20796989-20796989 13:20222850-20222850
26 GJB6 NM_001110219.3(GJB6):c.301G>C (p.Glu101Gln)SNV Uncertain significance 663718 13:20797319-20797319 13:20223180-20223180
27 GJB6 NC_000013.10:g.(?_20716100)_(21398980_?)dupduplication Uncertain significance 656832 13:20716100-21398980 13:20141961-20824841
28 GJB6 NM_001110219.3(GJB6):c.228del (p.Trp77fs)deletion Uncertain significance 837505 13:20797392-20797392 13:20223253-20223253
29 GJB6 NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr)SNV Benign/Likely benign 45504 rs111033338 13:20797025-20797025 13:20222886-20222886
30 GJB6 NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys)SNV Benign/Likely benign 188490 rs143766955 13:20797281-20797281 13:20223142-20223142
31 GJB6 NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser)SNV Benign/Likely benign 45502 rs35277762 13:20797144-20797144 13:20223005-20223005

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
12.43 GJB6 GJB3 GJB2 GJA3
2
Show member pathways
11.75 GJB6 GJB3 GJB2 GJA3
3
Show member pathways
11.74 GJB3 GJB2 GJA3
4
Show member pathways
10.92 GJB6 GJB3 GJB2 GJA3

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 stereocilium GO:0032420 9.46 TPRN STRC MYO15A ESPN
2 stereocilium tip GO:0032426 9.43 STRC ESPN CEACAM16
3 stereocilium bundle GO:0032421 9.32 MYO15A ESPN
4 gap junction GO:0005921 9.26 GJB6 GJB3 GJB2 GJA3
5 connexin complex GO:0005922 8.92 GJB6 GJB3 GJB2 GJA3

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.76 GJB6 GJB3 GJB2 GJA3
2 cell-cell signaling GO:0007267 9.62 GJB6 GJB3 GJB2 GJA3
3 cell communication GO:0007154 9.46 GJB6 GJB3 GJB2 GJA3
4 auditory receptor cell stereocilium organization GO:0060088 9.43 TPRN STRC
5 inner ear development GO:0048839 9.43 POU3F4 GJB6 GJB2
6 gap junction assembly GO:0016264 9.4 GJB6 GJB2
7 cell communication by electrical coupling GO:0010644 9.37 GJB6 GJB2
8 sensory perception of sound GO:0007605 9.23 TPRN STRC POU3F4 MYO15A GJB6 GJB2
9 gap junction-mediated intercellular transport GO:1990349 9.13 GJB6 GJB2 GJA3

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 8.92 GJB6 GJB3 GJB2 GJA3

Sources for Deafness, Autosomal Recessive 1b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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