Details of Disease

General Information of Disease (ID: DISHL7OQ)

Disease Name Hearing loss, X-linked 1
Synonyms DFNX1; deafness, X-linked 1; deafness, X-linked 2, sensorineural congenital; deafness, X-linked type 1
Disease Hierarchy
DISSWCJS: X-linked nonsyndromic hearing loss
DISHL7OQ: Hearing loss, X-linked 1
Disease Identifiers
MONDO ID
MONDO_0010577
MESH ID
C564433
UMLS CUI
C1844677
OMIM ID
304500
MedGen ID
336749

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
POU3F4 OTKF5AF7 moderate Biomarker [1]
PRPS1 OTN3A6CN Definitive X-linked [2]
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References

1 Nonsyndromic X-linked hearing loss.Front Biosci (Elite Ed). 2012 Jan 1;4(3):924-33. doi: 10.2741/E430.
2 Refinement of the locus for non-syndromic sensorineural deafness (DFN2). J Genet. 2004 Apr;83(1):35-8. doi: 10.1007/BF02715827.