General Information of Disease (ID: DIS9OAZJ)

Disease Name Hearing loss, autosomal recessive 106
Synonyms DFNB106; autosomal recessive nonsyndromic deafness 106; deafness, autosomal recessive 106; deafness autosomal recessive 106
Disease Hierarchy
DIS8G9R9: Hearing loss, autosomal recessive
DIS9OAZJ: Hearing loss, autosomal recessive 106
Disease Identifiers
MONDO ID
MONDO_0033198
UMLS CUI
C4539954
OMIM ID
617637
MedGen ID
1627111

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
EPS8L2 OT6OD55E Strong Autosomal recessive [1]
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References

1 EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss. Orphanet J Rare Dis. 2015 Aug 19;10:96. doi: 10.1186/s13023-015-0316-8.