Details of Disease

General Information of Disease (ID: DISFBQTO)

Disease Name Hearing loss, autosomal dominant 74
Synonyms deafness, autosomal dominant 74; DFNA74
Disease Hierarchy
DISYC1G0: Autosomal dominant nonsyndromic hearing loss
DISFBQTO: Hearing loss, autosomal dominant 74
Disease Identifiers
MONDO ID
MONDO_0029137
UMLS CUI
C4748334
OMIM ID
618140
MedGen ID
1648467

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PDE1C TTW2HRK Limited Autosomal dominant [1]
PDE1C TTW2HRK Definitive Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PDE1C OT5VWYPI Limited Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss. Hum Genet. 2018 Jul;137(6-7):437-446. doi: 10.1007/s00439-018-1895-y. Epub 2018 Jun 2.