Details of Disease

General Information of Disease (ID: DIS9OT2N)

Disease Name Ciliary dyskinesia, primary, 49, without situs inversus
Disease Hierarchy
DISOBC7V: Primary ciliary dyskinesia
DIS9OT2N: Ciliary dyskinesia, primary, 49, without situs inversus
Disease Identifiers
MONDO ID
MONDO_0859353
UMLS CUI
C5774291
OMIM ID
620197
MedGen ID
1824064

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
CFAP74 OTVW2BGR Limited Autosomal recessive [1]
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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.