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 |
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 |
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 |
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 |
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 |
Kartagener Syndrome
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.
|
24824133 |
2015 |
Polynesian Bronchiectasis
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.
|
24824133 |
2015 |
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 |
CILIARY DYSKINESIA, PRIMARY, 29
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.
|
26139845 |
2015 |
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 |
Ciliary Motility Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.
|
24824133 |
2015 |
Ciliary Motility Disorders
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia.
|
24747639 |
2014 |
CILIARY DYSKINESIA, PRIMARY, 29
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
CILIARY DYSKINESIA, PRIMARY, 29
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
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 |
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 |
Lung Diseases, Obstructive
|
0.400 |
Biomarker
|
group |
HPO |
|
|
|
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 |
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 |
Hydrocephalus
|
0.120 |
Biomarker
|
disease |
HPO |
|
|
|
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 |
Spontaneous abortion
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Asthma
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|