Details of Disease | DrugMAP

General Information of Disease (ID: DISEH1QX)

Disease Name	Coloboma, ocular, autosomal recessive
Synonyms	coloboma, ocular, autosomal recessive
Disease Hierarchy	DISYKSRF: Genetic disease DISP39N5: Coloboma DISEH1QX: Coloboma, ocular, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0009002 UMLS CUI C4011974 OMIM ID 216820 MedGen ID 860411

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
SALL2	OTQWI68Q	Limited	Autosomal recessive	[1]
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References

1	Mutation of SALL2 causes recessive ocular coloboma in humans and mice. Hum Mol Genet. 2014 May 15;23(10):2511-26. doi: 10.1093/hmg/ddt643. Epub 2014 Jan 9.