Details of Disease

General Information of Disease (ID: DISQQMKS)

Disease Name Autosomal recessive nonsyndromic hearing loss 26
Synonyms deafness, autosomal recessive 26; autosomal recessive deafness 26; DFNB26; autosomal recessive nonsyndromic deafness type 26; autosomal recessive nonsyndromic deafness 26
Definition An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31.
Disease Hierarchy
DIS8G9R9: Hearing loss, autosomal recessive
DISQQMKS: Autosomal recessive nonsyndromic hearing loss 26
Disease Identifiers
MONDO ID
MONDO_0011553
MESH ID
C565329
UMLS CUI
C1854275
OMIM ID
605428
MedGen ID
340185

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
GAB1 OTQKE6V4 Limited Unknown [1]
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References

1 Modifier variant of METTL13 suppresses human GAB1-associated profound deafness. J Clin Invest. 2018 Apr 2;128(4):1509-1522. doi: 10.1172/JCI97350. Epub 2018 Mar 12.