|
| Entrez Id: |
55130 |
| Gene Symbol: |
ARMC4 |
ARMC4
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.
|
23849778 |
2013 |
|
| Entrez Id: |
388389 |
| Gene Symbol: |
CCDC103 |
CCDC103
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
|
22581229 |
2012 |
|
| Entrez Id: |
93233 |
| Gene Symbol: |
CCDC114 |
CCDC114
|
0.300 |
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
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.
|
23261303 |
2013 |
|
| Entrez Id: |
115948 |
| Gene Symbol: |
CCDC151 |
CCDC151
|
0.300 |
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
|
0.300 |
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: |
85478 |
| Gene Symbol: |
CCDC65 |
CCDC65
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
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
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.
|
24824133 |
2015 |
|
| Entrez Id: |
10309 |
| Gene Symbol: |
CCNO |
CCNO
|
0.300 |
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
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.
|
24094744 |
2013 |
|
| 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: |
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: |
352909 |
| Gene Symbol: |
DNAAF3 |
DNAAF3
|
0.500 |
Biomarker
|
disease |
CTD_human |
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
|
22387996 |
2012 |
|
| Entrez Id: |
352909 |
| Gene Symbol: |
DNAAF3 |
DNAAF3
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
|
22387996 |
2012 |
|
| Entrez Id: |
161582 |
| Gene Symbol: |
DNAAF4 |
DNAAF4
|
0.500 |
Biomarker
|
disease |
CTD_human |
DYX1C1 is required for axonemal dynein assembly and ciliary motility.
|
23872636 |
2013 |
|
| Entrez Id: |
161582 |
| Gene Symbol: |
DNAAF4 |
DNAAF4
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
DYX1C1 is required for axonemal dynein assembly and ciliary motility.
|
23872636 |
2013 |
|
| Entrez Id: |
54919 |
| Gene Symbol: |
DNAAF5 |
DNAAF5
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.
|
23040496 |
2012 |
|
| Entrez Id: |
25981 |
| Gene Symbol: |
DNAH1 |
DNAH1
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Variation in DNAH1 may contribute to primary ciliary dyskinesia.
|
25927852 |
2015 |
|
| Entrez Id: |
1770 |
| Gene Symbol: |
DNAH9 |
DNAH9
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.
|
30471718 |
2018 |
|
| Entrez Id: |
1770 |
| Gene Symbol: |
DNAH9 |
DNAH9
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
|
30471717 |
2018 |
|
| Entrez Id: |
27019 |
| Gene Symbol: |
DNAI1 |
DNAI1
|
0.500 |
Biomarker
|
disease |
CTD_human |
Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis.
|
19675306 |
2010 |
|
| Entrez Id: |
27019 |
| Gene Symbol: |
DNAI1 |
DNAI1
|
0.500 |
Biomarker
|
disease |
MGD |
Ion Torrent sequencing for conducting genome-wide scans for mutation mapping analysis.
|
24306492 |
2014 |
|
| Entrez Id: |
374407 |
| Gene Symbol: |
DNAJB13 |
DNAJB13
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
|
27486783 |
2016 |
|
| Entrez Id: |
92749 |
| Gene Symbol: |
DRC1 |
DRC1
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.
|
23354437 |
2013 |