Details of Disease

General Information of Disease (ID: DISRAZKV)

Disease Name Glaucoma, normal tension, susceptibility to
Synonyms glaucoma, normal pressure, susceptibility to; NTG; glaucoma, normal tension, susceptibility to
Disease Hierarchy
DIS98MYE: Inherited disease susceptibility
DISRAZKV: Glaucoma, normal tension, susceptibility to
Disease Identifiers
MONDO ID
MONDO_0011693
UMLS CUI
C1847730
OMIM ID
606657
MedGen ID
335756

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
OPA1 TTTU49Q Strong Biomarker [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
OPTN OT2UXWH9 Definitive Autosomal dominant [2]
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References

1 Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.