Details of Disease

General Information of Disease (ID: DISFLETQ)

• Disease Name: Autosomal dominant nonsyndromic hearing loss 13
• Synonyms: COL11A2 autosomal dominant nonsyndromic deafness; deafness, autosomal dominant type 13; autosomal dominant nonsyndromic deafness caused by mutation in COL11A2; autosomal dominant nonsyndromic deafness 13; deafness, autosomal dominant 13; DFNA13; autosomal dominant nonsyndromic deafness type 13; autosomal dominant deafness 13
• Definition: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene.
• Disease Hierarchy:
  DISYC1G0: Autosomal dominant nonsyndromic hearing loss
  DISFLETQ: Autosomal dominant nonsyndromic hearing loss 13
• Disease Identifiers:
  MONDO ID: MONDO_0011159
  MESH ID: C566612
  UMLS CUI: C1866095
  OMIM ID: 601868
  MedGen ID: 400917

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COCH	OTBEHD89	Strong	Genetic Variation	[1]
DIAPH1	OTZBYPLH	Strong	Genetic Variation	[1]
MYO7A	OTBZSPEL	Strong	Genetic Variation	[1]
TECTA	OT5E0NE2	Strong	Biomarker	[2]
COL11A2	OT3BQUBH	Definitive	Autosomal dominant	[3]

References

• [1] Hereditary deafness and phenotyping in humans.Br Med Bull. 2002;63:73-94. doi: 10.1093/bmb/63.1.73.
• [2] Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.Front Med. 2016 Jun;10(2):137-42. doi: 10.1007/s11684-016-0449-8. Epub 2016 May 3.
• [3] Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nat Genet. 1999 Dec;23(4):413-9. doi: 10.1038/70516.