Details of Disease | DrugMAP

General Information of Disease (ID: DISX7WZB)

Disease Name	Microphthalmia, isolated, with coloboma 6
Synonyms	MCOPCB6; microphthalmia with coloboma 6; microphthalmia, isolated, with coloboma type 6; microphthalmia, isolated, with coloboma 6; microphthalmia with coloboma 6, digenic
Disease Hierarchy	DISLSEUJ: Microphthalmia, isolated, with coloboma DISX7WZB: Microphthalmia, isolated, with coloboma 6
Disease Identifiers	MONDO ID MONDO_0013376 UMLS CUI C3150968 OMIM ID 613703 MedGen ID 462318

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GDF3	OTD3KGJK	Limited	Autosomal dominant	[1]
GDF6	OTERXWJU	Strong	Biomarker	[2]
------------------------------------------------------------------------------------

References

1	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
2	GDF6, a novel locus for a spectrum of ocular developmental anomalies.Am J Hum Genet. 2007 Feb;80(2):306-15. doi: 10.1086/511280. Epub 2006 Dec 29.