Details of Disease | DrugMAP

General Information of Disease (ID: DISIS02N)

Disease Name	Lissencephaly 10
Synonyms	lissencephaly 10; LISSENCEPHALY 10; LIS10
Disease Hierarchy	DISBCZL7: Lissencephaly spectrum disorders DISIS02N: Lissencephaly 10
Disease Identifiers	MONDO ID MONDO_0030031 UMLS CUI C5394354 OMIM ID 618873 MedGen ID 1719546

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
CEP85L	OTSHJFOT	Definitive	Autosomal dominant	[1]
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References

1	Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. Neuron. 2020 Apr 22;106(2):237-245.e8. doi: 10.1016/j.neuron.2020.01.027. Epub 2020 Feb 24.