MCID: DFN042
MIFTS: 22

Dfna 3 Nonsyndromic Hearing Loss and Deafness malady

Genetic diseases (common), Ear diseases categories
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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 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 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)
Global: Genetic diseases (common)
Anatomical: Ear diseases


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

Symptoms for Dfna 3 Nonsyndromic Hearing Loss and Deafness

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Drugs & Therapeutics for Dfna 3 Nonsyndromic Hearing Loss and Deafness

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Dfna 3 Nonsyndromic Hearing Loss and Deafness

Search NIH Clinical Center 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

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

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37MGI
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MGI Mouse Phenotypes related to Dfna 3 Nonsyndromic Hearing Loss and Deafness:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.1GJB2, GJB6
2MP:00053778.8GJB2, GJB6

Publications for Dfna 3 Nonsyndromic Hearing Loss and Deafness

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Variations for Dfna 3 Nonsyndromic Hearing Loss and Deafness

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

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2BioGPS, 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

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50PathCards, 38NCBI BioSystems Database, 55Reactome, 53QIAGEN, 30KEGG
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Compounds for genes affiliated with Dfna 3 Nonsyndromic Hearing Loss and Deafness

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Sources:
61Tocris Bioscience, 29IUPHAR, 24HMDB, 45Novoseek, 3BitterDB, 11DrugBank
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Compounds related to Dfna 3 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
5octanol29 2410.1GJB6, GJB2
6flufenamic acid29 45 3 1112.1GJB2, GJB6
7carbenoxolone45 29 1111.0GJB2, GJB6
8ca2+298.8GJB2, GJB6

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

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dfna 3 Nonsyndromic Hearing Loss and Deafness

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet