MCID: DFN047

Dfna 9 Nonsyndromic Hearing Loss and Deafness malady

Genetic diseases (common), Ear diseases categories
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Summaries for Dfna 9 Nonsyndromic Hearing Loss and Deafness

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33MalaCards
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MalaCards: Dfna 9 Nonsyndromic Hearing Loss and Deafness, is also known as deafness, autosomal dominant 9 An important gene associated with Dfna 9 Nonsyndromic Hearing Loss and Deafness is COCH (cochlin).

Aliases & Classifications for Dfna 9 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 9 nonsyndromic hearing loss and deafness 20
deafness, autosomal dominant 9 62


Related Diseases for Dfna 9 Nonsyndromic Hearing Loss and Deafness

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Symptoms for Dfna 9 Nonsyndromic Hearing Loss and Deafness

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Drugs & Therapeutics for Dfna 9 Nonsyndromic Hearing Loss and Deafness

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Dfna 9 Nonsyndromic Hearing Loss and Deafness

Search NIH Clinical Center for Dfna 9 Nonsyndromic Hearing Loss and Deafness

Genetic Tests for Dfna 9 Nonsyndromic Hearing Loss and Deafness

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20GeneTests
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Genetic tests related to Dfna 9 Nonsyndromic Hearing Loss and Deafness:

id Genetic test Affiliating Genes
1 Dfna 9 Nonsyndromic Hearing Loss and Deafness20 COCH

Anatomical Context for Dfna 9 Nonsyndromic Hearing Loss and Deafness

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Animal Models for Dfna 9 Nonsyndromic Hearing Loss and Deafness or affiliated genes

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Publications for Dfna 9 Nonsyndromic Hearing Loss and Deafness

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Variations for Dfna 9 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 9 Nonsyndromic Hearing Loss and Deafness:

1
id Gene Name Type Significance SNP ID Assembly Location
1NM_004086.2(COCH): c.197T> G (p.Val66Gly)single nucleotide variantPathogenicrs121908927GRCh37Chr 14, 31346892: 31346892
2NM_004086.2(COCH): c.263G> A (p.Gly88Glu)single nucleotide variantPathogenicrs121908928GRCh37Chr 14, 31348040: 31348040
3NM_004086.2(COCH): c.349T> C (p.Trp117Arg)single nucleotide variantPathogenicrs121908929GRCh37Chr 14, 31348126: 31348126
4NM_004086.2(COCH): c.151C> T (p.Pro51Ser)single nucleotide variantPathogenicrs28938175GRCh37Chr 14, 31346846: 31346846
5NM_004086.2(COCH): c.326T> A (p.Ile109Asn)single nucleotide variantPathogenicrs121908930GRCh37Chr 14, 31348103: 31348103
6NM_004086.2(COCH): c.355G> A (p.Ala119Thr)single nucleotide variantPathogenicrs121908931GRCh37Chr 14, 31348132: 31348132
7NM_004086.2(COCH): c.1625G> T (p.Cys542Phe)single nucleotide variantPathogenicrs121908932GRCh37Chr 14, 31358969: 31358969
8NM_004086.2(COCH): c.1625G> A (p.Cys542Tyr)single nucleotide variantPathogenicrs121908932GRCh37Chr 14, 31358969: 31358969
9NM_004086.2(COCH): c.1535T> C (p.Met512Thr)single nucleotide variantPathogenicrs121908934GRCh37Chr 14, 31358879: 31358879

Expression for genes affiliated with Dfna 9 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 9 Nonsyndromic Hearing Loss and Deafness

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Pathways for genes affiliated with Dfna 9 Nonsyndromic Hearing Loss and Deafness

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Compounds for genes affiliated with Dfna 9 Nonsyndromic Hearing Loss and Deafness

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GO Terms for genes affiliated with Dfna 9 Nonsyndromic Hearing Loss and Deafness

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Products for genes affiliated with Dfna 9 Nonsyndromic Hearing Loss and Deafness

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dfna 9 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