Details of Disease | DrugMAP

General Information of Disease (ID: DIS6YOSV)

Disease Name	Autosomal dominant nonsyndromic hearing loss 41
Synonyms	deafness, autosomal dominant type 41; P2RX2 autosomal dominant nonsyndromic deafness; autosomal dominant deafness 41; autosomal dominant nonsyndromic deafness type 41; DFNA41; autosomal dominant nonsyndromic deafness caused by mutation in P2RX2; autosomal dominant nonsyndromic deafness 41; deafness, autosomal dominant 41
Definition	Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene.
Disease Hierarchy	DISYC1G0: Autosomal dominant nonsyndromic hearing loss DIS6YOSV: Autosomal dominant nonsyndromic hearing loss 41
Disease Identifiers	MONDO ID MONDO_0011994 MESH ID C564272 UMLS CUI C1842371 OMIM ID 608224 MedGen ID 330834

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
P2RX2	OT0LF34A	Strong	Autosomal dominant	[1]
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References

1	Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise. Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):2228-33. doi: 10.1073/pnas.1222285110. Epub 2013 Jan 23.