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
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 GermlineCausalMutation disease ORPHANET Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. 24824133 2015
CUI: C0600260
Disease: Lung Diseases, Obstructive
Lung Diseases, Obstructive 		0.400 Biomarker group CTD_human Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. 24747639 2014
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 GermlineCausalMutation disease ORPHANET Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. 24747639 2014
CUI: C0600260
Disease: Lung Diseases, Obstructive
Lung Diseases, Obstructive 		0.400 Biomarker group HPO
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 CausalMutation disease CLINVAR
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.310 GermlineCausalMutation disease ORPHANET This is the first study to implicate CCNO, a DNA repair gene reported to be involved in multiciliogenesis, in PCD. 24824133 2015
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.310 Biomarker disease BEFREE This is the first study to implicate CCNO, a DNA repair gene reported to be involved in multiciliogenesis, in PCD. 24824133 2015
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.310 GermlineCausalMutation disease ORPHANET Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. 24747639 2014
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.300 GermlineCausalMutation disease ORPHANET Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. 24824133 2015
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis 		0.300 GermlineCausalMutation disease ORPHANET Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. 24824133 2015
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.300 GermlineCausalMutation disease ORPHANET Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. 24747639 2014
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis 		0.300 GermlineCausalMutation disease ORPHANET Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. 24747639 2014
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.120 GeneticVariation disease BEFREE Our results further establish <i>CCNO</i> as an important gene for normal development and suggest that heterozygous CCNO mutations could underlie hydrocephalus or diminished fertility in some human patients. 29245899 2017
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.120 Biomarker disease BEFREE Combining these 15 patients with the previously reported CCNO case reports revealed rapid deterioration in lung function, an increased prevalence of hydrocephalus (10%) as well as increased female infertility (22%). 26777464 2016
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.120 Biomarker disease HPO
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation group CLINVAR Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis. 26777464 2016
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation group CLINVAR Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. 26139845 2015
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation group CLINVAR Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. 24824133 2015