Details of Disease | DrugMAP

General Information of Disease (ID: DISC2X5N)

Disease Name	CNGB1-related retinopathy
Definition	An inherited retinopathy caused by bi-allelic variants in the CNGB1 gene.
Disease Hierarchy	DISGGL77: Inherited retinal dystrophy DISC2X5N: CNGB1-related retinopathy

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
CNGB1	OTA5DE38	Definitive	Autosomal recessive	[1]
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References

1	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.