Details of Disease | DrugMAP

General Information of Disease (ID: DIS588HX)

Disease Name	Oculogastrointestinal-neurodevelopmental syndrome
Synonyms	OGIN Syndrome
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DIS588HX: Oculogastrointestinal-neurodevelopmental syndrome
Disease Identifiers	MONDO ID MONDO_0036189 UMLS CUI C5543355 OMIM ID 619318 MedGen ID 1779113 Orphanet ID 611201

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
CAPN15	OT0WE161	Strong	Autosomal recessive	[1]
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References

1	Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits. Hum Mol Genet. 2020 Nov 4;29(18):3054-3063. doi: 10.1093/hmg/ddaa198.