MCID: DFN047

Dfna 9 Nonsyndromic Hearing Loss and Deafness malady

Categories: Genetic diseases (common), Ear diseases

Aliases & Classifications for Dfna 9 Nonsyndromic Hearing Loss and Deafness

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Aliases & Descriptions for Dfna 9 Nonsyndromic Hearing Loss and Deafness:

Name: Dfna 9 Nonsyndromic Hearing Loss and Deafness 24
Deafness, Autosomal Dominant 9 67
 
Dfna 9 24
Dfna9 24

Classifications:



Summaries for Dfna 9 Nonsyndromic Hearing Loss and Deafness

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MalaCards based summary: Dfna 9 Nonsyndromic Hearing Loss and Deafness, also known as deafness, autosomal dominant 9, is related to deafness, autosomal dominant 9 and nonsyndromic deafness, and has symptoms including vertigo An important gene associated with Dfna 9 Nonsyndromic Hearing Loss and Deafness is COCH (Cochlin).

Related Diseases for Dfna 9 Nonsyndromic Hearing Loss and Deafness

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Diseases related to Dfna 9 Nonsyndromic Hearing Loss and Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1deafness, autosomal dominant 911.6
2nonsyndromic deafness9.8
3sensorineural hearing loss9.8

Symptoms for Dfna 9 Nonsyndromic Hearing Loss and Deafness

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UMLS symptoms related to Dfna 9 Nonsyndromic Hearing Loss and Deafness:


vertigo

Drugs & Therapeutics for Dfna 9 Nonsyndromic Hearing Loss and Deafness

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Interventional clinical trials:

Search ClinicalTrials, 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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Genetic tests related to Dfna 9 Nonsyndromic Hearing Loss and Deafness:

id Genetic test Affiliating Genes
1 Dfna 9 Nonsyndromic Hearing Loss and Deafness24 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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Clinvar genetic disease variations for Dfna 9 Nonsyndromic Hearing Loss and Deafness:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COCHNM_004086.2(COCH): c.151C> T (p.Pro51Ser)SNVPathogenicrs28938175GRCh37Chr 14, 31346846: 31346846
2COCHNM_004086.2(COCH): c.1625G> T (p.Cys542Phe)SNVPathogenicrs121908932GRCh37Chr 14, 31358969: 31358969

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

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Search GEO for disease gene expression data for Dfna 9 Nonsyndromic Hearing Loss and Deafness.

Pathways 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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Sources for Dfna 9 Nonsyndromic Hearing Loss and Deafness

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet