|
| Entrez Id: |
1767 |
| Gene Symbol: |
DNAH5 |
DNAH5
|
Ciliary Motility Disorders
|
0.310 |
CausalMutation |
CLINVAR |
Aminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia.
|
27618201 |
2016 |
|
| Entrez Id: |
1767 |
| Gene Symbol: |
DNAH5 |
DNAH5
|
Ciliary Motility Disorders
|
0.310 |
CausalMutation |
CLINVAR |
An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia.
|
26228299 |
2016 |
|
| Entrez Id: |
55130 |
| Gene Symbol: |
ARMC4 |
ARMC4
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.
|
23849778 |
2013 |
|
| Entrez Id: |
27019 |
| Gene Symbol: |
DNAI1 |
DNAI1
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome).
|
11231901 |
2001 |
|
| Entrez Id: |
27019 |
| Gene Symbol: |
DNAI1 |
DNAI1
|
Ciliary Motility Disorders
|
0.100 |
GeneticVariation |
CLINVAR |
Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome).
|
11231901 |
2001 |
|
| Entrez Id: |
64446 |
| Gene Symbol: |
DNAI2 |
DNAI2
|
Ciliary Motility Disorders
|
0.300 |
CausalMutation |
CLINVAR |
Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.
|
25802884 |
2015 |
|
| Entrez Id: |
8701 |
| Gene Symbol: |
DNAH11 |
DNAH11
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
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 |
Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.
|
25802884 |
2015 |
|
| Entrez Id: |
100528020 |
| Gene Symbol: |
FAM187A |
FAM187A
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
|
22581229 |
2012 |
|
| Entrez Id: |
388389 |
| Gene Symbol: |
CCDC103 |
CCDC103
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
|
22581229 |
2012 |
|
| Entrez Id: |
339829 |
| Gene Symbol: |
CCDC39 |
CCDC39
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
|
21131972 |
2011 |
|
| Entrez Id: |
151613 |
| Gene Symbol: |
TTC14 |
TTC14
|
Ciliary Motility Disorders
|
0.100 |
GeneticVariation |
CLINVAR |
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
|
21131972 |
2011 |
|
| Entrez Id: |
339829 |
| Gene Symbol: |
CCDC39 |
CCDC39
|
Ciliary Motility Disorders
|
0.100 |
GeneticVariation |
CLINVAR |
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
|
21131972 |
2011 |
|
| 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: |
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: |
1767 |
| Gene Symbol: |
DNAH5 |
DNAH5
|
Ciliary Motility Disorders
|
0.310 |
GeneticVariation |
CLINVAR |
Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.
|
25186273 |
2014 |
|
| Entrez Id: |
1767 |
| Gene Symbol: |
DNAH5 |
DNAH5
|
Ciliary Motility Disorders
|
0.310 |
CausalMutation |
CLINVAR |
Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.
|
25186273 |
2014 |
|
| Entrez Id: |
339829 |
| Gene Symbol: |
CCDC39 |
CCDC39
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.
|
25186273 |
2014 |
|
| Entrez Id: |
1767 |
| Gene Symbol: |
DNAH5 |
DNAH5
|
Ciliary Motility Disorders
|
0.310 |
CausalMutation |
CLINVAR |
Ciliary function and motor protein composition of human fallopian tubes.
|
26373788 |
2015 |
|
| Entrez Id: |
1767 |
| Gene Symbol: |
DNAH5 |
DNAH5
|
Ciliary Motility Disorders
|
0.310 |
GeneticVariation |
CLINVAR |
Ciliary function and motor protein composition of human fallopian tubes.
|
26373788 |
2015 |
|
| Entrez Id: |
27019 |
| Gene Symbol: |
DNAI1 |
DNAI1
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis.
|
19675306 |
2010 |
|
| 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: |
55036 |
| Gene Symbol: |
CCDC40 |
CCDC40
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
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 |
GeneticVariation |
CLINVAR |
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.
|
22693285 |
2012 |