Details of Disease

General Information of Disease (ID: DISBNROI)

Disease Name Autosomal recessive nonsyndromic hearing loss 76
Synonyms
SYNE4 autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic deafness type 76; autosomal recessive nonsyndromic deafness caused by mutation in SYNE4; deafness, autosomal recessive type 76; DFNB76; deafness, autosomal recessive 76; autosomal recessive nonsyndromic deafness 76; autosomal recessive deafness 76; autosomal recessive nonsyndromic hearing loss 76
Definition Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene.
Disease Hierarchy
DIS8G9R9: Hearing loss, autosomal recessive
DISBNROI: Autosomal recessive nonsyndromic hearing loss 76
Disease Identifiers
MONDO ID
MONDO_0014237
UMLS CUI
C3147083
OMIM ID
615540
MedGen ID
811137

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SYNE4 OTFWZSV7 Strong Autosomal recessive [1]
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References

1 The LINC complex is essential for hearing. J Clin Invest. 2013 Feb;123(2):740-50. doi: 10.1172/JCI66911. Epub 2013 Jan 25.