MCID: DFN046

Dfna 8/12 Nonsyndromic Hearing Loss and Deafness malady

Genetic diseases (common), Ear diseases categories
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Summaries for Dfna 8/12 Nonsyndromic Hearing Loss and Deafness

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MalaCards: Dfna 8/12 Nonsyndromic Hearing Loss and Deafness, is also known as deafness, autosomal dominant 12 An important gene associated with Dfna 8/12 Nonsyndromic Hearing Loss and Deafness is TECTA (tectorin alpha).

Aliases & Classifications for Dfna 8/12 Nonsyndromic Hearing Loss and Deafness

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20GeneTests, 62UMLS
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Classifications:

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


Aliases & Descriptions:

dfna 8/12 nonsyndromic hearing loss and deafness 20
deafness, autosomal dominant 12 62


Related Diseases for Dfna 8/12 Nonsyndromic Hearing Loss and Deafness

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Symptoms for Dfna 8/12 Nonsyndromic Hearing Loss and Deafness

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Drugs & Therapeutics for Dfna 8/12 Nonsyndromic Hearing Loss and Deafness

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Dfna 8/12 Nonsyndromic Hearing Loss and Deafness

Search NIH Clinical Center for Dfna 8/12 Nonsyndromic Hearing Loss and Deafness

Genetic Tests for Dfna 8/12 Nonsyndromic Hearing Loss and Deafness

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20GeneTests
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Genetic tests related to Dfna 8/12 Nonsyndromic Hearing Loss and Deafness:

id Genetic test Affiliating Genes
1 Dfna 8/12 Nonsyndromic Hearing Loss and Deafness20 TECTA

Anatomical Context for Dfna 8/12 Nonsyndromic Hearing Loss and Deafness

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Animal Models for Dfna 8/12 Nonsyndromic Hearing Loss and Deafness or affiliated genes

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Publications for Dfna 8/12 Nonsyndromic Hearing Loss and Deafness

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Variations for Dfna 8/12 Nonsyndromic Hearing Loss and Deafness

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Dfna 8/12 Nonsyndromic Hearing Loss and Deafness:

1
id Gene Name Type Significance SNP ID Assembly Location
1TECTANM_005422.2(TECTA): c.5609A> G (p.Tyr1870Cys)single nucleotide variantPathogenicrs121909058GRCh37Chr 11, 121038785: 121038785
2TECTANM_005422.2(TECTA): c.3169T> A (p.Cys1057Ser)single nucleotide variantPathogenicrs121909059GRCh37Chr 11, 121008357: 121008357
3TECTANM_005422.2(TECTA): c.4856G> C (p.Cys1619Ser)single nucleotide variantPathogenicrs121909060GRCh37Chr 11, 121031010: 121031010
4TECTANM_005422.2(TECTA): c.5509T> G (p.Cys1837Gly)single nucleotide variantPathogenicrs121909061GRCh37Chr 11, 121037412: 121037412
5TECTANM_005422.2(TECTA): c.6062G> A (p.Arg2021His)single nucleotide variantPathogenicrs121909062GRCh37Chr 11, 121058603: 121058603
6TECTANM_005422.2(TECTA): c.5668C> T (p.Arg1890Cys)single nucleotide variantPathogenicrs121909063GRCh37Chr 11, 121038844: 121038844
7TECTANM_005422.2(TECTA): c.5509T> C (p.Cys1837Arg)single nucleotide variantPathogenicrs121909061GRCh37Chr 11, 121037412: 121037412

Expression for genes affiliated with Dfna 8/12 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 8/12 Nonsyndromic Hearing Loss and Deafness

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Pathways for genes affiliated with Dfna 8/12 Nonsyndromic Hearing Loss and Deafness

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Compounds for genes affiliated with Dfna 8/12 Nonsyndromic Hearing Loss and Deafness

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GO Terms for genes affiliated with Dfna 8/12 Nonsyndromic Hearing Loss and Deafness

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Products for genes affiliated with Dfna 8/12 Nonsyndromic Hearing Loss and Deafness

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dfna 8/12 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