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

Molecular Interaction Atlas (MIA)
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]
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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.