MCID: DFN265
MIFTS: 12

Deafness, Autosomal Recessive 76 malady

Genetic diseases, Ear diseases, Rare diseases, Fetal diseases, Neuronal diseases, Cardiovascular diseases categories
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Summaries for Deafness, Autosomal Recessive 76

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MalaCards based summary: Deafness, Autosomal Recessive 76 and has symptoms including An important gene associated with Deafness, Autosomal Recessive 76 is SYNE4 (spectrin repeat containing, nuclear envelope family member 4).

Description from OMIM:46 615540

Aliases & Classifications for Deafness, Autosomal Recessive 76

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Deafness, Autosomal Recessive 76, Aliases & Descriptions:

Name: Deafness, Autosomal Recessive 76 46


Classifications:



Related Diseases for Deafness, Autosomal Recessive 76

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Diseases in the Deafness, Autosomal Dominant 3b family:

Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 55
Deafness, Autosomal Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Dominant 2a
Deafness, Autosomal Recessive 32 Deafness, Autosomal Dominant 7
Deafness, Autosomal Dominant 49 Deafness, Autosomal Recessive 45
Deafness, Autosomal Recessive 9 Deafness, Autosomal Dominant 58
Deafness, Autosomal Recessive 70 Deafness, Autosomal Dominant 43
Deafness, Autosomal Recessive 88 Deafness, Autosomal Dominant 16
Deafness, Autosomal Recessive 27 Deafness, Autosomal Recessive 59
Deafness, Autosomal Recessive 6 Deafness, Autosomal Recessive 42
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 6/14/38 Deafness, Autosomal Recessive 25
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 26
Deafness, Autosomal Dominant 24 Deafness, Autosomal Recessive 49
Deafness, Autosomal Dominant 1 Deafness, Autosomal Dominant 54
Deafness, Autosomal Dominant 15 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 91
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 66
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 53
Deafness, Autosomal Dominant 31 Deafness, Autosomal Recessive 67
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 10 Deafness, Autosomal Recessive 38
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 39 Deafness, Autosomal Recessive 61
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 17
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 13
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 28
Deafness, Autosomal Recessive 83 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 31
Deafness, Autosomal Dominant 56 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 18a Deafness, Autosomal Recessive 18b
Deafness, Autosomal Dominant 59 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 63 Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 8/12
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 20 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 102 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Recessive 84b Deafness, Autosomal Dominant 25
Deafness, Autosomal Dominant 64 Deafness, Autosomal Dominant 41
Deafness, Autosomal Recessive 1a Deafness, Autosomal Dominant 3a
Deafness, Autosomal Recessive 1b Deafness, Autosomal Dominant 33
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 48 Deafness, Autosomal Dominant 30
Deafness , Autosomal Recessive 86 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 20/26
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 15 Deafness, Autosomal Recessive 68
Deafness, Autosomal Recessive 81 deafness, autosomal recessive 76
Deafness, Autosomal Dominant 4b Deafness, Autosomal Dominant 4a
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 29
Deafness, Autosomal Recessive 8/10 Deafness, Autosomal Recessive 98
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 40
Deafness, Autosomal Recessive 28

Symptoms for Deafness, Autosomal Recessive 76

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Symptoms by clinical synopsis from OMIM:

615540

Clinical features from OMIM:

615540

HPO human phenotypes related to Deafness, Autosomal Recessive 76:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 progressive sensorineural hearing impairment HP:0000408

Drugs & Therapeutics for Deafness, Autosomal Recessive 76

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Drug clinical trials:

Search ClinicalTrials for Deafness, Autosomal Recessive 76

Search NIH Clinical Center for Deafness, Autosomal Recessive 76

Genetic Tests for Deafness, Autosomal Recessive 76

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Anatomical Context for Deafness, Autosomal Recessive 76

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Animal Models for Deafness, Autosomal Recessive 76 or affiliated genes

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Publications for Deafness, Autosomal Recessive 76

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Variations for Deafness, Autosomal Recessive 76

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Clinvar genetic disease variations for Deafness, Autosomal Recessive 76:

6
id Gene Name Type Significance SNP ID Assembly Location
1SYNE4NM_001039876.1(SYNE4): c.228_229delAT (p.Trp77Valfs)deletionPathogenicGRCh37Chr 19, 36499169: 36499170

Expression for genes affiliated with Deafness, Autosomal Recessive 76

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Expression patterns in normal tissues for genes affiliated with Deafness, Autosomal Recessive 76

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 76.

Pathways for genes affiliated with Deafness, Autosomal Recessive 76

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Compounds for genes affiliated with Deafness, Autosomal Recessive 76

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GO Terms for genes affiliated with Deafness, Autosomal Recessive 76

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Products for genes affiliated with Deafness, Autosomal Recessive 76

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  • Antibodies
  • Proteins
  • Lysates

Sources for Deafness, Autosomal Recessive 76

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet