Details of Disease

General Information of Disease (ID: DISMTFI6)

Disease Name Hearing loss, X-linked 6
Synonyms
DFNX6; COL4A6 X-linked nonsyndromic deafness; deafness, X-linked 6; deafness, X-linked 6, X-linked recessive; X-linked nonsyndromic deafness caused by mutation in COL4A6; deafness, X-linked type 6; hearing loss, X-linked 6
Definition Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene.
Disease Hierarchy
DISSWCJS: X-linked nonsyndromic hearing loss
DISMTFI6: Hearing loss, X-linked 6
Disease Identifiers
MONDO ID
MONDO_0010484
UMLS CUI
C3806737
OMIM ID
300914
MedGen ID
813067

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
COL4A6 OTUREU5Z Limited X-linked [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.