|
| Entrez Id: |
55130 |
| Gene Symbol: |
ARMC4 |
ARMC4
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.
|
23849778 |
2013 |
|
| Entrez Id: |
55130 |
| Gene Symbol: |
ARMC4 |
ARMC4
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.
|
23849778 |
2013 |
|
| Entrez Id: |
388389 |
| Gene Symbol: |
CCDC103 |
CCDC103
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
|
22581229 |
2012 |
|
| Entrez Id: |
388389 |
| Gene Symbol: |
CCDC103 |
CCDC103
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
93233 |
| Gene Symbol: |
CCDC114 |
CCDC114
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
|
23261302 |
2013 |
|
| Entrez Id: |
93233 |
| Gene Symbol: |
CCDC114 |
CCDC114
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.
|
23261303 |
2013 |
|
| Entrez Id: |
93233 |
| Gene Symbol: |
CCDC114 |
CCDC114
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.
|
23261303 |
2013 |
|
| Entrez Id: |
93233 |
| Gene Symbol: |
CCDC114 |
CCDC114
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
|
23261302 |
2013 |
|
| Entrez Id: |
115948 |
| Gene Symbol: |
CCDC151 |
CCDC151
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia.
|
25224326 |
2014 |
|
| Entrez Id: |
115948 |
| Gene Symbol: |
CCDC151 |
CCDC151
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
|
25192045 |
2014 |
|
| Entrez Id: |
115948 |
| Gene Symbol: |
CCDC151 |
CCDC151
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
|
25192045 |
2014 |
|
| Entrez Id: |
55036 |
| Gene Symbol: |
CCDC40 |
CCDC40
|
0.400 |
Biomarker
|
disease |
CTD_human |
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.
|
21131974 |
2011 |
|
| Entrez Id: |
55036 |
| Gene Symbol: |
CCDC40 |
CCDC40
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
55036 |
| Gene Symbol: |
CCDC40 |
CCDC40
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
85478 |
| Gene Symbol: |
CCDC65 |
CCDC65
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.
|
24094744 |
2013 |
|
| Entrez Id: |
85478 |
| Gene Symbol: |
CCDC65 |
CCDC65
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
10309 |
| Gene Symbol: |
CCNO |
CCNO
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
10309 |
| Gene Symbol: |
CCNO |
CCNO
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.
|
24824133 |
2015 |
|
| Entrez Id: |
10309 |
| Gene Symbol: |
CCNO |
CCNO
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia.
|
24747639 |
2014 |
|
| Entrez Id: |
200373 |
| Gene Symbol: |
CFAP221 |
CFAP221
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia.
|
31636325 |
2020 |
|
| Entrez Id: |
56683 |
| Gene Symbol: |
CFAP298 |
CFAP298
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.
|
24094744 |
2013 |
|
| Entrez Id: |
56683 |
| Gene Symbol: |
CFAP298 |
CFAP298
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
85016 |
| Gene Symbol: |
CFAP300 |
CFAP300
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.
|
29727692 |
2018 |
|
| Entrez Id: |
85016 |
| Gene Symbol: |
CFAP300 |
CFAP300
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.
|
29727693 |
2018 |
|
| Entrez Id: |
123872 |
| Gene Symbol: |
DNAAF1 |
DNAAF1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.
|
19944400 |
2009 |