CCNO, cyclin O, 10309

N. diseases: 67; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014534
Disease: CILIARY DYSKINESIA, PRIMARY, 29
CILIARY DYSKINESIA, PRIMARY, 29
0.700 Biomarker disease GENOMICS_ENGLAND Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia. 30166424 2019
CUI: C4014534
Disease: CILIARY DYSKINESIA, PRIMARY, 29
CILIARY DYSKINESIA, PRIMARY, 29
0.700 GeneticVariation disease UNIPROT Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis. 26777464 2016
CUI: C4014534
Disease: CILIARY DYSKINESIA, PRIMARY, 29
CILIARY DYSKINESIA, PRIMARY, 29
0.700 GeneticVariation disease UNIPROT Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. 24747639 2014
CUI: C4014534
Disease: CILIARY DYSKINESIA, PRIMARY, 29
CILIARY DYSKINESIA, PRIMARY, 29
0.700 Biomarker disease GENOMICS_ENGLAND Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. 24747639 2014
CUI: C4014534
Disease: CILIARY DYSKINESIA, PRIMARY, 29
CILIARY DYSKINESIA, PRIMARY, 29
0.700 Biomarker disease CTD_human
CUI: C4014534
Disease: CILIARY DYSKINESIA, PRIMARY, 29
CILIARY DYSKINESIA, PRIMARY, 29
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4014534
Disease: CILIARY DYSKINESIA, PRIMARY, 29
CILIARY DYSKINESIA, PRIMARY, 29
0.700 CausalMutation disease CLINVAR