MCID: DFN062
MIFTS: 11

Dfna6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing Loss malady

Categories: Genetic diseases, Ear diseases

Aliases & Classifications for Dfna6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing...

Aliases & Descriptions for Dfna6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing Loss:

Name: Dfna6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing Loss 24 29
Wfs1-Related Low Frequency Sensory Hearing Loss 24
Deafness, Autosomal Dominant 6 69
Dfna 14 24
Dfna 38 24
Dfna14 24
Dfna38 24
Dfna 6 24

Classifications:



Summaries for Dfna6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing...

MalaCards based summary : Dfna6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing Loss, also known as wfs1-related low frequency sensory hearing loss, is related to dfna 6/14/38 nonsyndromic hearing loss and deafness and deafness, autosomal dominant 6/14/38. An important gene associated with Dfna6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing Loss is WFS1 (Wolframin ER Transmembrane Glycoprotein).

Related Diseases for Dfna6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing...

Diseases related to Dfna6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing Loss via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 dfna 6/14/38 nonsyndromic hearing loss and deafness 10.9
2 deafness, autosomal dominant 6/14/38 10.8
3 autosomal dominant nonsyndromic deafness 6 10.8

Symptoms & Phenotypes for Dfna6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing...

Drugs & Therapeutics for Dfna6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing...

Search Clinical Trials , NIH Clinical Center for Dfna6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing Loss

Genetic Tests for Dfna6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing...

Genetic tests related to Dfna6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing Loss:

id Genetic test Affiliating Genes
1 Dfna6/14/38 Nonsyndromic Low-Frequency Sensorineural Hearing Loss 29
2 Dfna6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing Loss 24 WFS1

Anatomical Context for Dfna6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing...

Publications for Dfna6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing...

Variations for Dfna6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing...

ClinVar genetic disease variations for Dfna6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing Loss:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 WFS1 NM_006005.3(WFS1): c.2590G> A (p.Glu864Lys) single nucleotide variant Pathogenic rs74315205 GRCh37 Chromosome 4, 6304112: 6304112

Expression for Dfna6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing...

Search GEO for disease gene expression data for Dfna6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing Loss.

Pathways for Dfna6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing...

GO Terms for Dfna6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing...

Sources for Dfna6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing...

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