MCID: NNS015
MIFTS: 16

Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant malady

Categories: Genetic diseases, Ear diseases

Aliases & Classifications for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

Aliases & Descriptions for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant:

Name: Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant 24

Classifications:



Summaries for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

MalaCards based summary : Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant is related to inflammatory bowel disease 5 and 46xy partial gonadal dysgenesis, with minifascicular neuropathy. An important gene associated with Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant is WFS1 (Wolframin ER Transmembrane Glycoprotein), and among its related pathways/superpathways is RhoGDI Pathway. Related phenotype is hearing/vestibular/ear.

Related Diseases for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

Graphical network of the top 20 diseases related to Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant:



Diseases related to Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

Symptoms & Phenotypes for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

MGI Mouse Phenotypes related to Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.1 ACTG1 CRYM DFNA5 MYO1A MYO6 SLC17A8

Drugs & Therapeutics for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

Interventional clinical trials:


id Name Status NCT ID Phase
1 Epidemiology of Non-syndromic Dominant Deafness Completed NCT01150305

Search NIH Clinical Center for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

Genetic Tests for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

Genetic tests related to Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant 24 WFS1

Anatomical Context for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

Publications for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

Variations for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

Expression for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

Search GEO for disease gene expression data for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant.

Pathways for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

Pathways related to Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.18 ACTG1 MYO1A MYO6

GO Terms for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

Cellular components related to Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 microvillus GO:0005902 9.16 MYO1A MYO6
2 myosin complex GO:0016459 8.96 MYO1A MYO6
3 filamentous actin GO:0031941 8.8 ACTG1 MYO1A MYO6

Biological processes related to Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.23 CCDC50 CRYM DFNA5 MYO1A MYO6 P2RX2
2 cell junction assembly GO:0034329 8.96 ACTG1 GRHL2

Molecular functions related to Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase binding GO:0031625 9.13 ACTG1 CCDC50 WFS1
2 calmodulin binding GO:0005516 8.8 MYO1A MYO6 WFS1

Sources for Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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