Details of Disease | DrugMAP

General Information of Disease (ID: DISO542K)

Disease Name	Ciliary dyskinesia, primary, 41
Synonyms	CILIARY DYSKINESIA, PRIMARY, 41; CILD41
Disease Hierarchy	DISOBC7V: Primary ciliary dyskinesia DISO542K: Ciliary dyskinesia, primary, 41
Disease Identifiers	MONDO ID MONDO_0032757 UMLS CUI C5193103 OMIM ID 618449 MedGen ID 1680404

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
GAS2L2	OTV0H6MJ	Moderate	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.