Details of Disease | DrugMAP

General Information of Disease (ID: DISVI56Q)

Disease Name	Obsolete Knobloch syndrome
Definition	OBSOLETE. Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DISVI56Q: Obsolete Knobloch syndrome

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
COL18A1	TT63DI9	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
COL18A1	OTJFUH6O	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.