Details of Disease

General Information of Disease (ID: DIS97336)

• Disease Name: Autosomal dominant nonsyndromic hearing loss 70
• Synonyms: deafness, autosomal dominant type 70; MCM2 autosomal dominant nonsyndromic deafness; autosomal dominant deafness 70; deafness, autosomal dominant 70; autosomal dominant nonsyndromic deafness 70; autosomal dominant nonsyndromic deafness caused by mutation in MCM2; autosomal dominant nonsyndromic deafness type 70; DFNA70; autosomal dominant nonsyndromic hearing loss 70
• Definition: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene.
• Disease Hierarchy:
  DISYC1G0: Autosomal dominant nonsyndromic hearing loss
  DIS97336: Autosomal dominant nonsyndromic hearing loss 70
• Disease Identifiers:
  MONDO ID: MONDO_0014853
  UMLS CUI: C4310775
  OMIM ID: 616968
  MedGen ID: 934742

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MCM2	OTGGORIQ	Strong	Autosomal dominant	[1]

References

• [1] Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family. PLoS One. 2015 Jul 21;10(7):e0133522. doi: 10.1371/journal.pone.0133522. eCollection 2015.