Details of Disease | DrugMAP

General Information of Disease (ID: DISC5WNZ)

Disease Name	Microcephaly, growth restriction, and increased sister chromatid exchange 2
Synonyms	MGRISCE2; microcephaly, growth restriction, and increased sister chromatid exchange 2
Disease Hierarchy	DISXNHQG: Microcephaly, growth restriction and increased sister chromatid exchange DISCPWH9: Autosomal recessive disease DISC5WNZ: Microcephaly, growth restriction, and increased sister chromatid exchange 2
Disease Identifiers	MONDO ID MONDO_0020628 UMLS CUI C4748176 OMIM ID 618097 MedGen ID 1648384

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
TOP3A	OT3CKUI9	Definitive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.