Details of Disease | DrugMAP

General Information of Disease (ID: DISM03XG)

Disease Name	Night blindness, congenital stationary, type1i
Synonyms	CSNB1I; night blindness, congenital stationary, type 1I; NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I
Disease Hierarchy	DISX0CWK: Congenital stationary night blindness DIS2BIP8: Congenital nervous system disorder DISR72NR: GUCY2D-related recessive retinopathy DISM03XG: Night blindness, congenital stationary, type1i
Disease Identifiers	MONDO ID MONDO_0032811 UMLS CUI C5231408 OMIM ID 618555 MedGen ID 1684817

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
GUCY2D	TTWNFC2	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GUCY2D	OT81UJI0	Strong	Autosomal recessive	[1]
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References

1	Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D. Am J Ophthalmol. 2018 Jun;190:58-68. doi: 10.1016/j.ajo.2018.03.021. Epub 2018 Mar 17.