Disease: Situs ambiguus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		0.510 GeneticVariation disease BEFREE We show that cfap53 is required for cilia rotation specifically in Kupffer's vesicle, the zebrafish laterality organ, providing a mechanism by which patients with CFAP53 mutations develop dextrocardia and heterotaxy, and confirming previous evidence that left-right asymmetry in humans is regulated through cilia-driven fluid flow in a laterality organ. 26531781 2016
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		0.510 Biomarker disease GENOMICS_ENGLAND Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer. 25504577 2015
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		0.510 GermlineCausalMutation disease ORPHANET A human laterality disorder associated with recessive CCDC11 mutation. 22577226 2012