Details of Disease | DrugMAP

General Information of Disease (ID: DISRCFVW)

Disease Name	Coloboma, ocular, autosomal dominant
Synonyms	coloboma of iris, choroid, and retina; coloboma, Uveoretinal; coloboma, ocular; coloboma, ocular, autosomal dominant
Disease Hierarchy	DISP39N5: Coloboma DISRCFVW: Coloboma, ocular, autosomal dominant

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
PAX6	OTOC9876	Strong	Autosomal dominant	[1]
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References

1	Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction. Genet Med. 2020 Mar;22(3):598-609. doi: 10.1038/s41436-019-0685-9. Epub 2019 Nov 8.