|
| Entrez Id: |
55036 |
| Gene Symbol: |
CCDC40 |
CCDC40
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.
|
22499950 |
2012 |
|
| Entrez Id: |
55036 |
| Gene Symbol: |
CCDC40 |
CCDC40
|
Ciliary Motility Disorders
|
0.100 |
GeneticVariation |
CLINVAR |
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.
|
22693285 |
2012 |
|
| Entrez Id: |
55036 |
| Gene Symbol: |
CCDC40 |
CCDC40
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia.
|
24498942 |
2014 |
|
| Entrez Id: |
55036 |
| Gene Symbol: |
CCDC40 |
CCDC40
|
Ciliary Motility Disorders
|
0.100 |
GeneticVariation |
CLINVAR |
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
|
23255504 |
2013 |
|
| Entrez Id: |
55036 |
| Gene Symbol: |
CCDC40 |
CCDC40
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
|
23891469 |
2013 |
|
| Entrez Id: |
55036 |
| Gene Symbol: |
CCDC40 |
CCDC40
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature.
|
25619595 |
2016 |
|
| Entrez Id: |
55036 |
| Gene Symbol: |
CCDC40 |
CCDC40
|
Ciliary Motility Disorders
|
0.100 |
GeneticVariation |
CLINVAR |
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.
|
21131974 |
2011 |
|
| Entrez Id: |
85478 |
| Gene Symbol: |
CCDC65 |
CCDC65
|
Ciliary Motility Disorders
|
0.100 |
GeneticVariation |
CLINVAR |
CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia.
|
23991085 |
2013 |
|
| Entrez Id: |
85478 |
| Gene Symbol: |
CCDC65 |
CCDC65
|
Ciliary Motility Disorders
|
0.100 |
GeneticVariation |
CLINVAR |
Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.
|
25802884 |
2015 |
|
| Entrez Id: |
85478 |
| Gene Symbol: |
CCDC65 |
CCDC65
|
Ciliary Motility Disorders
|
0.100 |
GeneticVariation |
CLINVAR |
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.
|
24094744 |
2013 |
|
| Entrez Id: |
10309 |
| Gene Symbol: |
CCNO |
CCNO
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.
|
26139845 |
2015 |
|
| Entrez Id: |
10309 |
| Gene Symbol: |
CCNO |
CCNO
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.
|
26777464 |
2016 |
|
| Entrez Id: |
10309 |
| Gene Symbol: |
CCNO |
CCNO
|
Ciliary Motility Disorders
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
10309 |
| Gene Symbol: |
CCNO |
CCNO
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.
|
24824133 |
2015 |
|
| Entrez Id: |
10309 |
| Gene Symbol: |
CCNO |
CCNO
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia.
|
24747639 |
2014 |
|
| Entrez Id: |
55536 |
| Gene Symbol: |
CDCA7L |
CDCA7L
|
Ciliary Motility Disorders
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
55536 |
| Gene Symbol: |
CDCA7L |
CDCA7L
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
56683 |
| Gene Symbol: |
CFAP298 |
CFAP298
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.
|
24094744 |
2013 |
|
| Entrez Id: |
123872 |
| Gene Symbol: |
DNAAF1 |
DNAAF1
|
Ciliary Motility Disorders
|
0.100 |
GeneticVariation |
CLINVAR |
Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.
|
19944405 |
2009 |
|
| Entrez Id: |
123872 |
| Gene Symbol: |
DNAAF1 |
DNAAF1
|
Ciliary Motility Disorders
|
0.100 |
GeneticVariation |
CLINVAR |
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.
|
19944400 |
2009 |
|
| Entrez Id: |
123872 |
| Gene Symbol: |
DNAAF1 |
DNAAF1
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.
|
19944400 |
2009 |
|
| Entrez Id: |
123872 |
| Gene Symbol: |
DNAAF1 |
DNAAF1
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.
|
19944405 |
2009 |
|
| Entrez Id: |
352909 |
| Gene Symbol: |
DNAAF3 |
DNAAF3
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
|
22387996 |
2012 |
|
| Entrez Id: |
352909 |
| Gene Symbol: |
DNAAF3 |
DNAAF3
|
Ciliary Motility Disorders
|
0.100 |
GeneticVariation |
CLINVAR |
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
|
22387996 |
2012 |
|
| Entrez Id: |
161582 |
| Gene Symbol: |
DNAAF4 |
DNAAF4
|
Ciliary Motility Disorders
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|