MCID: DFN042
MIFTS: 14

Dfna 3 Nonsyndromic Hearing Loss and Deafness malady

Ear category

Summaries for Dfna 3 Nonsyndromic Hearing Loss and Deafness

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33MalaCards
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MalaCards: Dfna 3 Nonsyndromic Hearing Loss and Deafness is related to gjb6-related dfna 3 nonsyndromic hearing loss and deafness and gjb2-related dfna 3 nonsyndromic hearing loss and deafness. An important gene associated with Dfna 3 Nonsyndromic Hearing Loss and Deafness is GJB6 (gap junction protein, beta 6, 30kDa), and among its related pathways are Calcium Regulation in the Cardiac Cell and Membrane Trafficking. The compounds gap 27 and carbenoxolone disodium have been mentioned in the context of this disorder. Related mouse phenotype hearing/vestibular/ear.

Aliases & Classifications for Dfna 3 Nonsyndromic Hearing Loss and Deafness

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20GeneTests, 22GTR
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Ear


Aliases & Descriptions:

dfna 3 nonsyndromic hearing loss and deafness 20 22


Related Diseases for Dfna 3 Nonsyndromic Hearing Loss and Deafness

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Dfna 3 Nonsyndromic Hearing Loss and Deafness:



Diseases related to dfna 3 nonsyndromic hearing loss and deafness

Clinical Features for Dfna 3 Nonsyndromic Hearing Loss and Deafness

Drugs & Therapeutics for Dfna 3 Nonsyndromic Hearing Loss and Deafness

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Dfna 3 Nonsyndromic Hearing Loss and Deafness

Search CenterWatch for Dfna 3 Nonsyndromic Hearing Loss and Deafness

Genetic Tests for Dfna 3 Nonsyndromic Hearing Loss and Deafness

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20GeneTests, 22GTR
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Genetic tests related to Dfna 3 Nonsyndromic Hearing Loss and Deafness:

id Genetic test Affiliating Genes
1 Dfna 3 Nonsyndromic Hearing Loss And Deafness20 22 GJB6

Anatomical Context for Dfna 3 Nonsyndromic Hearing Loss and Deafness

Animal Models for Dfna 3 Nonsyndromic Hearing Loss and Deafness or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Dfna 3 Nonsyndromic Hearing Loss and Deafness:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1GJB2, GJB6

Publications for Dfna 3 Nonsyndromic Hearing Loss and Deafness

Genetic Variations for Dfna 3 Nonsyndromic Hearing Loss and Deafness

Expression for genes affiliated with Dfna 3 Nonsyndromic Hearing Loss and Deafness

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dfna 3 Nonsyndromic Hearing Loss and Deafness

Search GEO for disease gene expression data for Dfna 3 Nonsyndromic Hearing Loss and Deafness.

Pathways for genes affiliated with Dfna 3 Nonsyndromic Hearing Loss and Deafness

Sources:
38NCBI BioSystems Database, 54Reactome, 52QIAGEN
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Pathways related to Dfna 3 Nonsyndromic Hearing Loss and Deafness according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1GJB2, GJB6
29.1GJB2, GJB6
39.1GJB2, GJB6
4
Hide members
9.1GJB2, GJB6

Compounds for genes affiliated with Dfna 3 Nonsyndromic Hearing Loss and Deafness

Sources:
60Tocris Bioscience, 29IUPHAR, 24HMDB, 45Novoseek, 2BitterDB, 11DrugBank
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Compounds related to Dfna 3 Nonsyndromic Hearing Loss and Deafness according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gap 27609.3GJB2, GJB6
2carbenoxolone disodium609.3GJB6, GJB2
3scrambled 10panx609.2GJB6, GJB2
410panx609.2GJB6, GJB2
5octanol29 2410.1GJB6, GJB2
6flufenamic acid45 29 2 1112.1GJB6, GJB2
7carbenoxolone29 45 1111.0GJB2, GJB6
8ca2+298.8GJB2, GJB6

GO Terms for genes affiliated with Dfna 3 Nonsyndromic Hearing Loss and Deafness

Sources:
16Gene Ontology
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Cellular components related to Dfna 3 Nonsyndromic Hearing Loss and Deafness according to GeneCards/GeneDecks:

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

Biological processes related to Dfna 3 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 Dfna 3 Nonsyndromic Hearing Loss and Deafness

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dfna 3 Nonsyndromic Hearing Loss and Deafness

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet