Deafness, Autosomal Recessive 1b disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Ear diseases Neuronal diseases Blood diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the ear and mastoid process

Other disorders of ear

Conductive and sensorineural hearing loss

Sensorineural hearing loss, bilateral

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

SNOMED-CT via HPO ⁶⁸ 103276001 15188001 258211005 more

UMLS ⁷¹ C2675235

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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

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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:

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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

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Drugs & Therapeutics for Deafness, Autosomal Recessive 1b

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

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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

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Anatomical Context for Deafness, Autosomal Recessive 1b

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

⁴⁰

Brain, Testes

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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	del Castillo I...Moreno F	11807148	2002
2	Vestibular dysfunction in DFNB1 deafness. ⁵⁶	Dodson KM...Arnos KS	21465647	2011
3	Infant hearing loss and connexin testing in a diverse population. ⁵⁶	Schimmenti LA...Palmer CG	18580690	2008
4	Infrequency of two deletion mutations at the DFNB1 locus in patients and controls. ⁶	Tang HY...Alford RL	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	Tang HY...Alford RL	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	del Castillo FJ...del Castillo I	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	Seeman P...Kabelka Z	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	Del Castillo I...Moreno F	14571368	2003
9	A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect? ⁵⁶	Pallares-Ruiz N...Roux AF	11896458	2002
10	Neurosensory hearing loss in secondary adhalinopathy. ⁶¹	Oexle K...Voit T	8677023	1996
11	A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval. ⁶¹	Chaib H...Petit C	7881423	1994

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Genes for Deafness, Autosomal Recessive 1b

Genes related to Deafness, Autosomal Recessive 1b (2 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GJB6	Gap Junction Protein Beta 6	Protein Coding	1024.58	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	15994881 14571368 18324688 (more) 17041943 11807148 15638823
2	GJB2	Gap Junction Protein Beta 2	Protein Coding	415.35	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	15994881 14571368 18324688 (more) 17041943 11807148 15638823
3	GJB3	Gap Junction Protein Beta 3	Protein Coding	5.97	DISEASES inferred ¹⁵
4	STRC	Stereocilin	Protein Coding	5.84	DISEASES inferred ¹⁵
5	MYO15A	Myosin XVA	Protein Coding	5.55	DISEASES inferred ¹⁵
6	GJA3	Gap Junction Protein Alpha 3	Protein Coding	5.54	DISEASES inferred ¹⁵
7	TPRN	Taperin	Protein Coding	5.52	DISEASES inferred ¹⁵
8	CEACAM16	CEA Cell Adhesion Molecule 16, Tectorial Membrane Component	Protein Coding	5.5	DISEASES inferred ¹⁵
9	ESPN	Espin	Protein Coding	5.42	DISEASES inferred ¹⁵
10	SMPX	Small Muscle Protein X-Linked	Protein Coding	5.4	DISEASES inferred ¹⁵
11	CRYL1	Crystallin Lambda 1	Protein Coding	5.35	DISEASES inferred ¹⁵
12	POU3F4	POU Class 3 Homeobox 4	Protein Coding	5.28	DISEASES inferred ¹⁵

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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>A	SNV	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_?)dup	duplication	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

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Expression for Deafness, Autosomal Recessive 1b

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

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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	G-Beta Gamma Signaling ⁶³ Show member pathways CRHR Pathway ⁶³ GHRH Signaling ⁶³ Hedgehog Signaling in Mammals ⁶³ Relaxin Pathway ⁶³ Signaling in Gap Junctions ⁶³	12.43	GJB6 GJB3 GJB2 GJA3
2	Myometrial Relaxation and Contraction Pathways ¹ Show member pathways Calcium Regulation in the Cardiac Cell ¹	11.75	GJB6 GJB3 GJB2 GJA3
3	Development Slit-Robo signaling ²² Show member pathways Cell adhesion Gap junctions ²² Neurophysiological process Receptor-mediated axon growth repulsion ²² Pathogenic Escherichia coli infection ¹	11.74	GJB3 GJB2 GJA3
4	Gap junction trafficking ⁶⁵ Show member pathways Entry of Influenza Virion into Host Cell via Endocytosis ⁶⁵ Formation of annular gap junctions ⁶⁵ Gap junction assembly ⁶⁵ Gap junction degradation ⁶⁵ Gap junction trafficking and regulation ⁶⁵	10.92	GJB6 GJB3 GJB2 GJA3

Sources

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

Sources for Deafness, Autosomal Recessive 1b

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

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¹² Disease Ontology

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

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⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Deafness, Autosomal Recessive 1b (DFNB1B)

Aliases & Classifications for Deafness, Autosomal Recessive 1b

MalaCards integrated aliases for Deafness, Autosomal Recessive 1b:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Deafness, Autosomal Recessive 1b

Related Diseases for Deafness, Autosomal Recessive 1b

Diseases in the Rare Deafness family:

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

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

Symptoms & Phenotypes for Deafness, Autosomal Recessive 1b

Human phenotypes related to Deafness, Autosomal Recessive 1b:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Drugs & Therapeutics for Deafness, Autosomal Recessive 1b

Genetic Tests for Deafness, Autosomal Recessive 1b

Genetic tests related to Deafness, Autosomal Recessive 1b:

Anatomical Context for Deafness, Autosomal Recessive 1b

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

Publications for Deafness, Autosomal Recessive 1b

Articles related to Deafness, Autosomal Recessive 1b:

Genes for Deafness, Autosomal Recessive 1b

Genes related to Deafness, Autosomal Recessive 1b (2 elite genes):

Variations for Deafness, Autosomal Recessive 1b

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

Expression for Deafness, Autosomal Recessive 1b

Pathways for Deafness, Autosomal Recessive 1b

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

GO Terms for Deafness, Autosomal Recessive 1b

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

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

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

Sources for Deafness, Autosomal Recessive 1b