Details of Disease | DrugMAP

General Information of Disease (ID: DIS20FJI)

Disease Name	Knobloch syndrome
Disease Hierarchy	DISVPRKD: Vitreoretinal degeneration DIS20FJI: Knobloch syndrome
Disease Identifiers	MONDO ID MONDO_0800166 MESH ID C537209 UMLS CUI C1849409 MedGen ID 336594 Orphanet ID 1571 SNOMED CT ID 703542000

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	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADAMTS18	OTRMFI04	Strong	Genetic Variation	[2]
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References

1	COL18A1 is a candidate eye iridocorneal angle-closure gene in humans.Hum Mol Genet. 2018 Nov 1;27(21):3772-3786. doi: 10.1093/hmg/ddy256.
2	Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. J Med Genet. 2011 Sep;48(9):597-601. doi: 10.1136/jmedgenet-2011-100306.