Details of Disease

General Information of Disease (ID: DIS22GSR)

Disease Name Myopia 27
Synonyms MYP27; MYOPIA 27
Disease Hierarchy
DISK5S60: Myopia
DIS22GSR: Myopia 27
Disease Identifiers
MONDO ID
MONDO_0032941
UMLS CUI
C5394215
OMIM ID
618827
MedGen ID
1719756

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
CPSF1 OTAU1KOM Strong Autosomal dominant [1]
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References

1 CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection. Hum Mol Genet. 2019 Jun 15;28(12):1959-1970. doi: 10.1093/hmg/ddz029.