Details of Disease

General Information of Disease (ID: DISWLJZJ)

Disease Name Myopia 24, autosomal dominant
Synonyms MYP24; myopia 24, autosomal dominant
Disease Hierarchy
DISK5S60: Myopia
DISWLJZJ: Myopia 24, autosomal dominant
Disease Identifiers
MONDO ID
MONDO_0014411
UMLS CUI
C4014762
OMIM ID
615946
MedGen ID
863199

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC39A5 DTN9ACR Strong Autosomal dominant [1]
SLC39A5 DTN9ACR Strong Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC39A5 OTBO2WXH Strong Autosomal dominant [1]
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References

1 Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients. Sci Rep. 2017 Apr 25;7(1):1120. doi: 10.1038/s41598-017-01285-3.
2 SLC39A5 mutations interfering with the BMP/TGF- pathway in non-syndromic high myopia.J Med Genet. 2014 Aug;51(8):518-25. doi: 10.1136/jmedgenet-2014-102351. Epub 2014 Jun 2.