Details of Disease

General Information of Disease (ID: DIS1ZT40)

Disease Name Myopia 6
Synonyms myopia, susceptibility to; MYP6; myopia type 6; SCO2 myopia (disease); myopia (disease) caused by mutation in SCO2; myopia 6
Definition Any myopia in which the cause of the disease is a mutation in the SCO2 gene.
Disease Hierarchy
DISK5S60: Myopia
DIS1ZT40: Myopia 6
Disease Identifiers
MONDO ID
MONDO_0012154
MESH ID
C536105
UMLS CUI
C1837148
OMIM ID
608908
MedGen ID
324696

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
RAB8A OTPB54Y3 Strong Genetic Variation [1]
SCO2 OTJQQDRS Strong Autosomal dominant [2]
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References

1 Preoperative refraction, age and optical zone as predictors of optical and visual quality after advanced surface ablation in patients with high myopia: a cross-sectional study.BMJ Open. 2018 Jun 4;8(6):e023877. doi: 10.1136/bmjopen-2018-023877.
2 Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. Am J Hum Genet. 2013 May 2;92(5):820-6. doi: 10.1016/j.ajhg.2013.04.005.