Details of Disease | DrugMAP

General Information of Disease (ID: DISFFSU2)

Disease Name	Congenital stationary night blindness 1H
Synonyms	CSNB1H; GNB3 congenital stationary night blindness; congenital stationary night blindness caused by mutation in GNB3; congenital stationary night blindness type 1H; night blindness, congenital stationary, type 1H
Definition	Any congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 gene.
Disease Hierarchy	DISX0CWK: Congenital stationary night blindness DISFFSU2: Congenital stationary night blindness 1H
Disease Identifiers	MONDO ID MONDO_0014872 UMLS CUI C4310758 OMIM ID 617024 MedGen ID 934725

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
GNB3	OTA6HYBA	Strong	Autosomal recessive	[1]
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References

1	Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. Am J Hum Genet. 2016 May 5;98(5):1011-1019. doi: 10.1016/j.ajhg.2016.03.021. Epub 2016 Apr 7.