DFNB1
MCID: DFN038
MIFTS: 34

Dfnb1 (DFNB1)

Categories: Ear diseases, Rare diseases

Aliases & Classifications for Dfnb1

MalaCards integrated aliases for Dfnb1:

Name: Dfnb1 20 54
Gjb2-Related Deafness 20 6
Deafness Nonsyndromic, Connexin 26 Linked 20
Connexin 26 Deafness 20

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Ear diseases


Summaries for Dfnb1

MalaCards based summary : Dfnb1, also known as gjb2-related deafness, is related to nonsyndromic hearing loss and deafness, dfnb1 and branchiootic syndrome 1. An important gene associated with Dfnb1 is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are G-Beta Gamma Signaling and Myometrial Relaxation and Contraction Pathways. Related phenotypes are hearing/vestibular/ear and no phenotypic analysis

Wikipedia : 73 Gap junction beta-2 protein (GJB2), also known as connexin 26 (Cx26) — is a protein that in humans is... more...

Related Diseases for Dfnb1

Diseases related to Dfnb1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 109)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic hearing loss and deafness, dfnb1 31.6 GJB6 GJB3 GJB2
2 branchiootic syndrome 1 30.8 OTOF MYO7A GJB2
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 30.7 MYO7A GJB2
4 nonsyndromic deafness 30.5 PCDH15 GJB2
5 non-syndromic genetic deafness 30.4 OTOF MYO7A GJB2
6 deafness, autosomal dominant 3a 30.4 GJB6 GJB3 GJB2
7 rare genetic deafness 30.2 PCDH15 OTOF MYO7A GJB2
8 deafness, autosomal recessive 1b 30.1 GJB6 GJB3 GJB2
9 deafness, autosomal recessive 1a 30.0 OTOF MYO7A GJB6 GJB3 GJB2
10 deafness, autosomal recessive 3 30.0 MYO7A GJB2
11 keratitis-ichthyosis-deafness syndrome, autosomal dominant 29.9 GJB6 GJB2
12 keratoderma, palmoplantar, with deafness 29.9 GJB6 GJB3 GJB2
13 usher syndrome, type if 29.8 PCDH15 MYO7A
14 deafness, autosomal recessive 23 29.7 PCDH15 MYO7A GJB2
15 bart-pumphrey syndrome 29.7 GJB6 GJB3 GJB2
16 deafness, autosomal recessive 2 29.6 PCDH15 OTOF MYO7A GJB2
17 vohwinkel syndrome 29.6 GJB6 GJB3 GJB2
18 autosomal recessive nonsyndromic deafness 3 29.6 OTOF MYO7A GJB2
19 retinitis pigmentosa-deafness syndrome 29.6 PCDH15 MYO7A
20 autosomal recessive non-syndromic sensorineural deafness type dfnb 29.6 PCDH15 OTOF MYO7A GJB6 GJB3 GJB2
21 nonsyndromic hearing loss 29.6 PCDH15 OTOF MYO7A GJB6 GJB3 GJB2
22 autosomal recessive nonsyndromic deafness 29.5 PCDH15 OTOF MYO7A GJB2
23 sensorineural hearing loss 29.3 PCDH15 OTOF MYO7A GJB6 GJB3 GJB2
24 autosomal dominant non-syndromic sensorineural deafness type dfna 29.2 PCDH15 OTOF MYO7A GJB6 GJB3 GJB2
25 usher syndrome, type i 29.0 PCDH15 OTOF MYO7A GJB6 GJB2
26 deafness, autosomal recessive 12 28.6 PCDH15 OTOF MYO7A GJB6 GJB3 GJB2
27 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 28.6 PCDH15 OTOF MYO7A GJB6 GJB3 GJB2
28 usher syndrome 28.5 PCDH15 OTOF MYO7A GJB6 GJB3 GJB2
29 nonsyndromic hearing loss and deafness, dfna3 10.2 GJB6 GJB2
30 purulent labyrinthitis 10.2 GJB6 GJB2
31 viral labyrinthitis 10.2 GJB6 GJB2
32 congenital cytomegalovirus 10.2 GJB6 GJB2
33 deafness, autosomal dominant 6 10.1 MYO7A GJB2
34 hypotrichosis-deafness syndrome 10.1 GJB3 GJB2
35 usher syndrome, type ih 10.1 PCDH15 MYO7A
36 hereditary lymphedema ic 10.1 GJB3 GJB2
37 deafness, autosomal recessive 8 10.1 OTOF GJB2
38 deafness, autosomal recessive 18a 10.1 PCDH15 MYO7A
39 erythrokeratoderma 10.1 GJB3 GJB2
40 deafness, autosomal recessive 93 10.1 OTOF GJB2
41 deafness, autosomal dominant 2b 10.1 GJB3 GJB2
42 deafness, autosomal dominant 1, with or without thrombocytopenia 10.1 MYO7A GJB2
43 deafness, autosomal dominant 67 10.1 OTOF GJB2
44 auditory neuropathy spectrum disorder 10.1 OTOF MYO7A
45 usher syndrome, type ij 10.1 PCDH15 MYO7A
46 deafness, autosomal recessive 91 10.1 GJB3 GJB2
47 deafness, autosomal dominant 2a 10.1 GJB3 GJB2
48 peripheral vertigo 10.1 MYO7A GJB2
49 usher syndrome, type iiib 10.1 PCDH15 MYO7A
50 deafness, autosomal recessive 83 10.1 OTOF MYO7A

Graphical network of the top 20 diseases related to Dfnb1:



Diseases related to Dfnb1

Symptoms & Phenotypes for Dfnb1

MGI Mouse Phenotypes related to Dfnb1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.43 GJB2 GJB3 GJB6 MYO7A OTOF PCDH15
2 no phenotypic analysis MP:0003012 9.02 GJB2 GJB3 GJB6 MYO7A OTOF

Drugs & Therapeutics for Dfnb1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Development of Cellular Models of the Ear and Nose From Patient Samples to Study the Mechanisms of Hearing Not yet recruiting NCT04823195

Search NIH Clinical Center for Dfnb1

Genetic Tests for Dfnb1

Anatomical Context for Dfnb1

Publications for Dfnb1

Articles related to Dfnb1:

(show top 50) (show all 484)
# Title Authors PMID Year
1
Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2. 6 54 61
20022641 2010
2
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F. 54 6 61
19375528 2009
3
Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss. 61 54 6
19371219 2009
4
High prevalence of the connexin 26 (GJB2) mutation in Chinese cochlear implant recipients. 61 6 54
19707039 2009
5
Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity. 6 61 54
18758381 2008
6
Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele. 61 54 6
16773579 2006
7
Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients. 61 6 54
15964725 2005
8
High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss. 61 6 54
16088916 2005
9
GJB2: the spectrum of deafness-causing allele variants and their phenotype. 61 54 6
15365987 2004
10
Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss. 6 54 61
15241677 2004
11
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. 54 6 61
14571368 2003
12
Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness. 6 54 61
12910486 2003
13
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. 61 6 54
12865758 2003
14
Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family. 61 54 6
12522556 2003
15
Functional analysis of connexin-26 mutants associated with hereditary recessive deafness. 54 61 6
12562518 2003
16
Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness. 61 54 6
12505163 2003
17
Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10. 6 54 61
12497637 2003
18
Functional study of GJB2 in hereditary hearing loss. 61 54 6
12352684 2002
19
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. 6 54 61
11807148 2002
20
Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss. 6 61 54
11134236 2001
21
Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT. 61 54 6
10903123 2000
22
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. 6 54 61
10218527 1999
23
Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1) 6 54 61
10049954 1999
24
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. 61 6 54
9529365 1998
25
Connexin-26 mutations in sporadic and inherited sensorineural deafness. 61 54 6
9482292 1998
26
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. 54 61 6
9600457 1998
27
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. 54 61 6
9285800 1997
28
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. 61 54 6
9139825 1997
29
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients. 6 61
29196752 2017
30
Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not? 61 6
27057829 2016
31
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population. 6 61
26896187 2016
32
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus. 61 6
26444186 2016
33
Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population. 61 6
26061264 2015
34
GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico. 61 6
25288386 2014
35
Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran. 61 6
24529908 2014
36
GJB2-associated hearing loss undetected by hearing screening of newborns. 61 6
24013081 2013
37
EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus. 61 6
23695287 2013
38
Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients. 6 61
23668481 2013
39
A novel p.Leu213X mutation in GJB2 gene in a Portuguese family. 61 6
23141775 2013
40
A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment. 6 61
24039984 2013
41
The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study. 61 6
22695344 2012
42
[Changes in the connexin 26 (GJB2) gene in Russian patients with hearing disorders: results of long-term molecular diagnostics of hereditary nonsyndromic deafness]. 6 61
22567861 2012
43
Vestibular dysfunction in DFNB1 deafness. 6 61
21465647 2011
44
Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations. 61 6
21287563 2011
45
DFNB1-associated deafness in Portuguese cochlear implant users: prevalence and impact on oral outcome. 6 61
20650534 2010
46
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression. 61 6
20236118 2010
47
Spectrum of GJB2 mutations in a cohort of nonsyndromic hearing loss cases from the Kingdom of Saudi Arabia. 61 6
19929407 2010
48
Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients. 6 61
19715472 2009
49
GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals. 61 6
18560174 2008
50
Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment. 61 6
16300957 2006

Variations for Dfnb1

ClinVar genetic disease variations for Dfnb1:

6 (show top 50) (show all 288)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJB2 NM_004004.6(GJB2):c.51_62delinsA (p.Thr18fs) Indel Pathogenic 17013 rs886037624 GRCh37: 13:20763659-20763670
GRCh38: 13:20189520-20189531
2 GJB2 NM_004004.6(GJB2):c.280_284dup (p.Ala96fs) Duplication Pathogenic 17025 rs886037625 GRCh37: 13:20763436-20763437
GRCh38: 13:20189297-20189298
3 GJB2 NM_004004.6(GJB2):c.314_329del (p.Lys105fs) Deletion Pathogenic 211079 rs797045596 GRCh37: 13:20763392-20763407
GRCh38: 13:20189253-20189268
4 GJB2 and overlap with 2 gene(s) NC_000013.11:g.20365207_20496559del Deletion Pathogenic 253028 GRCh37: 13:20939346-21070698
GRCh38: 13:20365207-20496559
5 GJB2 , GJB6 del(GJB6-D13S1830) Deletion Pathogenic 5546 GRCh37:
GRCh38:
6 GJB2 Variation Pathogenic 253027 GRCh37:
GRCh38:
7 GJB2 NM_004004.6(GJB2):c.72G>A (p.Trp24Ter) SNV Pathogenic 554744 rs769486081 GRCh37: 13:20763649-20763649
GRCh38: 13:20189510-20189510
8 GJB2 NM_004004.6(GJB2):c.327_328delinsA (p.Glu110fs) Indel Pathogenic 556762 rs1555341931 GRCh37: 13:20763393-20763394
GRCh38: 13:20189254-20189255
9 GJB2 NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter) Duplication Pathogenic 627447 rs1566528185 GRCh37: 13:20763115-20763116
GRCh38: 13:20188976-20188977
10 GJB3 NM_024009.3(GJB3):c.8G>A (p.Trp3Ter) SNV Pathogenic 627448 rs1557659237 GRCh37: 1:35250371-35250371
GRCh38: 1:34784770-34784770
11 GJB2 NM_004004.6(GJB2):c.257C>G (p.Thr86Arg) SNV Pathogenic 631697 rs1291519904 GRCh37: 13:20763464-20763464
GRCh38: 13:20189325-20189325
12 GJB6 NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) SNV Pathogenic 5545 rs28937872 GRCh37: 13:20797357-20797357
GRCh38: 13:20223218-20223218
13 GJB2 NM_004004.6(GJB2):c.550C>T (p.Arg184Trp) SNV Pathogenic 560669 rs998045226 GRCh37: 13:20763171-20763171
GRCh38: 13:20189032-20189032
14 GJB2 NM_004004.6(GJB2):c.137_141del (p.Asp46fs) Deletion Pathogenic 917888 GRCh37: 13:20763580-20763584
GRCh38: 13:20189441-20189445
15 GJB2 NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) SNV Pathogenic 267367 rs72561723 GRCh37: 13:20763587-20763587
GRCh38: 13:20189448-20189448
16 GJB2 NM_004004.6(GJB2):c.176_191del (p.Gly59fs) Deletion Pathogenic 284906 rs750188782 GRCh37: 13:20763530-20763545
GRCh38: 13:20189391-20189406
17 GJB2 NM_004004.6(GJB2):c.250G>A (p.Val84Met) SNV Pathogenic 17036 rs104894409 GRCh37: 13:20763471-20763471
GRCh38: 13:20189332-20189332
18 GJB2 NM_004004.6(GJB2):c.487A>G (p.Met163Val) SNV Pathogenic 21388 rs80338949 GRCh37: 13:20763234-20763234
GRCh38: 13:20189095-20189095
19 GJB2 NM_004004.6(GJB2):c.465T>A (p.Tyr155Ter) SNV Pathogenic 195205 rs772264564 GRCh37: 13:20763256-20763256
GRCh38: 13:20189117-20189117
20 GJB2 NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) SNV Pathogenic 17007 rs80338950 GRCh37: 13:20763170-20763170
GRCh38: 13:20189031-20189031
21 GJB2 NM_004004.6(GJB2):c.283G>A (p.Val95Met) SNV Pathogenic 44735 rs111033299 GRCh37: 13:20763438-20763438
GRCh38: 13:20189299-20189299
22 GJB2 NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) SNV Pathogenic 44749 rs76434661 GRCh37: 13:20763305-20763305
GRCh38: 13:20189166-20189166
23 GJB6 NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) SNV Pathogenic 5544 rs104894415 GRCh37: 13:20797589-20797589
GRCh38: 13:20223450-20223450
24 GJB2 NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) SNV Pathogenic 163514 rs727503066 GRCh37: 13:20763342-20763342
GRCh38: 13:20189203-20189203
25 GJB2 NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) SNV Pathogenic 550195 rs371024165 GRCh37: 13:20763627-20763627
GRCh38: 13:20189488-20189488
26 GJB6 NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) SNV Pathogenic 5544 rs104894415 GRCh37: 13:20797589-20797589
GRCh38: 13:20223450-20223450
27 GJB2 NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) SNV Pathogenic 17007 rs80338950 GRCh37: 13:20763170-20763170
GRCh38: 13:20189031-20189031
28 GJB2 NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) SNV Pathogenic 44749 rs76434661 GRCh37: 13:20763305-20763305
GRCh38: 13:20189166-20189166
29 GJB2 NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) SNV Pathogenic 17001 rs80338944 GRCh37: 13:20763490-20763490
GRCh38: 13:20189351-20189351
30 GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) SNV Pathogenic 17002 rs104894396 GRCh37: 13:20763650-20763650
GRCh38: 13:20189511-20189511
31 GJB2 NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) SNV Pathogenic 17003 rs104894397 GRCh37: 13:20763492-20763492
GRCh38: 13:20189353-20189353
32 GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs) Deletion Pathogenic 17004 rs80338939 GRCh37: 13:20763686-20763686
GRCh38: 13:20189547-20189547
33 GJB2 NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) SNV Pathogenic 17005 rs104894398 GRCh37: 13:20763582-20763582
GRCh38: 13:20189443-20189443
34 GJB2 NM_004004.6(GJB2):c.355_357GAG[1] (p.Glu120del) Microsatellite Pathogenic 17006 rs80338947 GRCh37: 13:20763361-20763363
GRCh38: 13:20189222-20189224
35 GJB2 NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) SNV Pathogenic 17009 rs80338948 GRCh37: 13:20763294-20763294
GRCh38: 13:20189155-20189155
36 GJB2 NM_004004.6(GJB2):c.167del (p.Leu56fs) Deletion Pathogenic 17010 rs80338942 GRCh37: 13:20763554-20763554
GRCh38: 13:20189415-20189415
37 GJB2 NM_004004.6(GJB2):c.235del (p.Leu79fs) Deletion Pathogenic 17014 rs80338943 GRCh37: 13:20763486-20763486
GRCh38: 13:20189347-20189347
38 GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) SNV Pathogenic 17016 rs80338945 GRCh37: 13:20763452-20763452
GRCh38: 13:20189313-20189313
39 GJB2 NM_004004.6(GJB2):c.-23+1G>A SNV Pathogenic 17029 rs80338940 GRCh37: 13:20766921-20766921
GRCh38: 13:20192782-20192782
40 GJB2 NM_004004.6(GJB2):c.250G>C (p.Val84Leu) SNV Pathogenic 17032 rs104894409 GRCh37: 13:20763471-20763471
GRCh38: 13:20189332-20189332
41 GJB2 NM_004004.6(GJB2):c.1A>G (p.Met1Val) SNV Pathogenic 44729 rs111033293 GRCh37: 13:20763720-20763720
GRCh38: 13:20189581-20189581
42 GJB2 NM_004004.6(GJB2):c.299_300del (p.His100fs) Deletion Pathogenic 44736 rs111033204 GRCh37: 13:20763421-20763422
GRCh38: 13:20189282-20189283
43 GJB2 NM_004004.6(GJB2):c.313_326del (p.Lys105fs) Deletion Pathogenic 44737 rs111033253 GRCh37: 13:20763395-20763408
GRCh38: 13:20189256-20189269
44 GJB2 NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) SNV Pathogenic 44744 rs397516874 GRCh37: 13:20763351-20763351
GRCh38: 13:20189212-20189212
45 GJB2 NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) SNV Pathogenic 44763 rs111033294 GRCh37: 13:20763104-20763104
GRCh38: 13:20188965-20188965
46 GJB2 NM_004004.6(GJB2):c.269dup (p.Val91fs) Duplication Pathogenic 177737 rs730880338 GRCh37: 13:20763451-20763452
GRCh38: 13:20189312-20189313
47 GJB2 NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) SNV Pathogenic 188758 rs371024165 GRCh37: 13:20763627-20763627
GRCh38: 13:20189488-20189488
48 GJB2 NM_004004.6(GJB2):c.250G>T (p.Val84Leu) SNV Pathogenic 167134 rs104894409 GRCh37: 13:20763471-20763471
GRCh38: 13:20189332-20189332
49 GJB2 NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) Duplication Pathogenic 188821 rs786204491 GRCh37: 13:20763430-20763431
GRCh38: 13:20189291-20189292
50 GJB2 NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) SNV Pathogenic 17027 rs28931593 GRCh37: 13:20763497-20763497
GRCh38: 13:20189358-20189358

Expression for Dfnb1

Search GEO for disease gene expression data for Dfnb1.

Pathways for Dfnb1

Pathways related to Dfnb1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.13 TUBA3C GJB6 GJB3 GJB2
2
Show member pathways
11.92 GJB6 GJB3 GJB2
3
Show member pathways
11.74 TUBA3C GJB3 GJB2
4
Show member pathways
10.79 GJB6 GJB3 GJB2

GO Terms for Dfnb1

Cellular components related to Dfnb1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.55 OTOF MYO7A GJB6 GJB3 GJB2
2 photoreceptor outer segment GO:0001750 9.32 PCDH15 MYO7A
3 stereocilium GO:0032420 9.26 PCDH15 MYO7A
4 gap junction GO:0005921 9.13 GJB6 GJB3 GJB2
5 connexin complex GO:0005922 8.8 GJB6 GJB3 GJB2

Biological processes related to Dfnb1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.63 GJB6 GJB3 GJB2
2 sensory perception of light stimulus GO:0050953 9.43 PCDH15 MYO7A
3 equilibrioception GO:0050957 9.4 PCDH15 MYO7A
4 gap junction assembly GO:0016264 9.37 GJB6 GJB2
5 cell communication GO:0007154 9.33 GJB6 GJB3 GJB2
6 cell communication by electrical coupling GO:0010644 9.32 GJB6 GJB2
7 gap junction-mediated intercellular transport GO:1990349 9.26 GJB6 GJB2
8 inner ear development GO:0048839 9.26 PCDH15 MYO7A GJB6 GJB2
9 sensory perception of sound GO:0007605 9.02 PCDH15 OTOF MYO7A GJB6 GJB2

Molecular functions related to Dfnb1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 8.96 GJB6 GJB2
2 gap junction channel activity GO:0005243 8.8 GJB6 GJB3 GJB2

Sources for Dfnb1

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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