Details of Disease | DrugMAP

General Information of Disease (ID: DIS3SYNP)

Disease Name	Ciliary dyskinesia, primary, 46
Synonyms	CILD46; ciliary dyskinesia, primary, 46
Disease Hierarchy	DISOBC7V: Primary ciliary dyskinesia DIS3SYNP: Ciliary dyskinesia, primary, 46
Disease Identifiers	MONDO ID MONDO_0030332 UMLS CUI C5543646 OMIM ID 619436 MedGen ID 1780196

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
STK36	TTX5KEQ	Limited	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
STK36	OTDWQNKK	Limited	Autosomal recessive	[1]
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References

1	Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect. Hum Mutat. 2017 Aug;38(8):964-969. doi: 10.1002/humu.23261. Epub 2017 Jun 15.