Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

MalaCards integrated aliases for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3:

Name: Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 ⁵⁴ ⁷⁴

Dfna3 ⁵⁴ ⁵⁶

Neurosensory Nonsyndromic Dominant Deafness 1 ⁵⁴

Nsrd1 ⁵⁴

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases Ear diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷⁴ C2931770

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Summaries for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

MalaCards based summary : Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3, also known as dfna3, is related to nonsyndromic hearing loss and deafness, dfna3 and deafness, autosomal recessive 1a. An important gene associated with Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 is GJB2 (Gap Junction Protein Beta 2).

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Related Diseases for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

Diseases in the Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 family:

Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22	Deafness, Autosomal Dominant Nonsyndromic Sensorineural 23
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 24	Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 53

Diseases related to Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)

#	Related Disease	Score
1	nonsyndromic hearing loss and deafness, dfna3	12.1
2	deafness, autosomal recessive 1a	11.1
3	deafness, autosomal recessive 1b	11.1
4	nonsyndromic deafness	10.2
5	keratoderma, palmoplantar, with deafness	10.0
6	muscular dystrophy, limb-girdle, autosomal recessive 5	10.0
7	deafness, autosomal dominant 3a	10.0
8	deafness, autosomal dominant 3b	10.0
9	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.0
10	palmoplantar keratosis	10.0
11	muscular dystrophy	10.0
12	limb-girdle muscular dystrophy	10.0
13	dfnb1	10.0
14	mediastinal endodermal sinus tumors	10.0

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3:

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Symptoms & Phenotypes for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

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Drugs & Therapeutics for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

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Genetic Tests for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

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Anatomical Context for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

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Publications for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

Articles related to Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3:

#	Title	Authors	Year
1	A novel dominant GJB2 (DFNA3) mutation in a Chinese family. ( 28102197 )	Wang H...Wang Q	2017
2	Phenotypes of two Dutch DFNA3 families with mutations in GJB2. ( 21510145 )	Weegerink NJ...Kunst HP	2011
3	The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. ( 16059934 )	Feldmann D...Marlin S	2005
4	DFNA3. ( 12408062 )	Denoyelle F...Petit C	2002
5	DFNA3. ( 10868217 )	Denoyelle F...Petit C	2000
6	Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. ( 10471490 )	Grifa A...Gasparini P	1999
7	A YAC contig and an EST map in the pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness (DFNB1 and DFNA3) and limb-girdle muscular dystrophy type 2C (LGMD2C). ( 8530067 )	Guilford P...Cohen D	1995

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Genes for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

Genes related to Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GJB2	Gap Junction Protein Beta 2	Protein Coding	21.06	Novoseek inferred ⁵⁶	12064630 10633133 16059934 (more) 9507396 10369869 12768774 9465305 12522692 19707039 10704187

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Variations for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

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Expression for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

Search GEO for disease gene expression data for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3.

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Pathways for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

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GO Terms for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

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Sources for Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3

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