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 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: 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: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation group CLINVAR
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.020 GeneticVariation group BEFREE Using a whole-exome sequencing strategy, we identified recessive CCNO (encoding cyclin O) mutations in 16 individuals suffering from chronic destructive lung disease due to insufficient airway clearance. 24747639 2014
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 GeneticVariation disease BEFREE In family B, we identified three candidate genes (CCNO, KCNN3 and CDKN1C), with a 5-bp duplication in CCNO (NM_021147.3:c.258_262dup; p.Gln88Argfs*8) being the most likely cause of ciliary aplasia. 24824133 2015
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.010 GeneticVariation group BEFREE Peripheral blood lymphocytes of 9 patients under CCNU therapy were examined for frequency of sister-chromatid exchanges (SCEs) and chromosomal aberrations (CAs). 3173387 1988
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 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 GENOMICS_ENGLAND Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia. 30166424 2019
CUI: C0600260
Disease: Lung Diseases, Obstructive
Lung Diseases, Obstructive 		0.400 Biomarker group HPO
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: 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: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.120 Biomarker disease HPO
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: C0000786
Disease: Spontaneous abortion
Spontaneous abortion 		0.100 Biomarker phenotype HPO
CUI: C0004096
Disease: Asthma
Asthma 		0.100 Biomarker disease HPO
CUI: C0004144
Disease: Atelectasis
Atelectasis 		0.100 Biomarker phenotype HPO
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		0.100 Biomarker disease HPO
CUI: C0008677
Disease: Bronchitis, Chronic
Bronchitis, Chronic 		0.100 Biomarker disease HPO
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 Biomarker group HPO
CUI: C0009080
Disease: Clubbed Fingers
Clubbed Fingers 		0.100 Biomarker disease HPO
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.100 Biomarker disease HPO
CUI: C0010200
Disease: Coughing
Coughing 		0.100 Biomarker phenotype HPO