MCID: DFN063
MIFTS: 21

Dfnb 1 Nonsyndromic Hearing Loss and Deafness malady

Genetic diseases (common), Ear diseases categories
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Summaries for Dfnb 1 Nonsyndromic Hearing Loss and Deafness

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MalaCards based summary: Dfnb 1 Nonsyndromic Hearing Loss and Deafness is related to gjb6-related dfnb 1 nonsyndromic hearing loss and deafness and gjb2-related dfnb 1 nonsyndromic hearing loss and deafness. An important gene associated with Dfnb 1 Nonsyndromic Hearing Loss and Deafness is GJB6 (gap junction protein, beta 6, 30kDa), and among its related pathways are Myometrial Relaxation and Contraction Pathways and Clathrin derived vesicle budding. The compounds 10panx and scrambled 10panx have been mentioned in the context of this disorder. Related mouse phenotypes are no phenotypic analysis and hearing/vestibular/ear.

Aliases & Classifications for Dfnb 1 Nonsyndromic Hearing Loss and Deafness

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Dfnb 1 Nonsyndromic Hearing Loss and Deafness, Aliases & Descriptions:

Name: Dfnb 1 Nonsyndromic Hearing Loss and Deafness 20


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Ear diseases


Related Diseases for Dfnb 1 Nonsyndromic Hearing Loss and Deafness

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Graphical network of diseases related to Dfnb 1 Nonsyndromic Hearing Loss and Deafness:



Diseases related to dfnb 1 nonsyndromic hearing loss and deafness

Symptoms for Dfnb 1 Nonsyndromic Hearing Loss and Deafness

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Drugs & Therapeutics for Dfnb 1 Nonsyndromic Hearing Loss and Deafness

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Drug clinical trials:

Search ClinicalTrials for Dfnb 1 Nonsyndromic Hearing Loss and Deafness

Search NIH Clinical Center for Dfnb 1 Nonsyndromic Hearing Loss and Deafness

Genetic Tests for Dfnb 1 Nonsyndromic Hearing Loss and Deafness

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Genetic tests related to Dfnb 1 Nonsyndromic Hearing Loss and Deafness:

id Genetic test Affiliating Genes
1 Dfnb 1 Nonsyndromic Hearing Loss and Deafness20 GJB6

Anatomical Context for Dfnb 1 Nonsyndromic Hearing Loss and Deafness

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Animal Models for Dfnb 1 Nonsyndromic Hearing Loss and Deafness or affiliated genes

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MGI Mouse Phenotypes related to Dfnb 1 Nonsyndromic Hearing Loss and Deafness:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.1GJB2, GJB6
2MP:00053778.8GJB2, GJB6

Publications for Dfnb 1 Nonsyndromic Hearing Loss and Deafness

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Variations for Dfnb 1 Nonsyndromic Hearing Loss and Deafness

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Expression for genes affiliated with Dfnb 1 Nonsyndromic Hearing Loss and Deafness

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Expression patterns in normal tissues for genes affiliated with Dfnb 1 Nonsyndromic Hearing Loss and Deafness

Search GEO for disease gene expression data for Dfnb 1 Nonsyndromic Hearing Loss and Deafness.

Pathways for genes affiliated with Dfnb 1 Nonsyndromic Hearing Loss and Deafness

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Compounds for genes affiliated with Dfnb 1 Nonsyndromic Hearing Loss and Deafness

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Compounds related to Dfnb 1 Nonsyndromic Hearing Loss and Deafness according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
110panx619.3GJB2, GJB6
2scrambled 10panx619.3GJB2, GJB6
3carbenoxolone disodium619.2GJB2, GJB6
4gap 27619.2GJB2, GJB6
5octanol28 2410.1GJB6, GJB2
6flufenamic acid28 44 2 1112.1GJB2, GJB6
7carbenoxolone44 28 1111.0GJB2, GJB6
8ca2+288.8GJB2, GJB6

GO Terms for genes affiliated with Dfnb 1 Nonsyndromic Hearing Loss and Deafness

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Cellular components related to Dfnb 1 Nonsyndromic Hearing Loss and Deafness according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1connexon complexGO:0059229.1GJB2, GJB6

Biological processes related to Dfnb 1 Nonsyndromic Hearing Loss and Deafness according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sensory perception of soundGO:0076059.1GJB2, GJB6

Products for genes affiliated with Dfnb 1 Nonsyndromic Hearing Loss and Deafness

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  • Antibodies
  • Proteins
  • Lysates

Sources for Dfnb 1 Nonsyndromic Hearing Loss and Deafness

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet