Details of Disease | DrugMAP

General Information of Disease (ID: DISWI9ES)

Disease Name	Microcephaly 30, primary, autosomal recessive
Disease Hierarchy	DIS29IE3: Autosomal recessive primary microcephaly DISWI9ES: Microcephaly 30, primary, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0859342 UMLS CUI C5774280 OMIM ID 620183 MedGen ID 1824053

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
BUB1	TT78309	Limited	Unknown	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BUB1	OT80DZMT	Limited	Unknown	[1]
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References

1	Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation. Sci Adv. 2022 Jan 21;8(3):eabk0114. doi: 10.1126/sciadv.abk0114. Epub 2022 Jan 19.