| CILIARY DYSKINESIA, PRIMARY, 25 |
C3809641 |
DNAAF4
|
Causal
Pathogenic evidence from ClinVar
|
23872636 |
ClinVar |
| Ciliary Motility Disorders |
C0008780 |
DNAAF4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNAAF5
|
Causal
Pathogenic evidence from ClinVar
|
23040496, 24307375, 25232951 |
ClinVar |
|
DNAH11
|
Causal
Pathogenic evidence from ClinVar
|
18022865, 20513915, 22102620, 22184204, 24450482, 25802884, 26139845, 27637300 |
ClinVar |
|
DNAH5
|
Causal
Pathogenic evidence from ClinVar
|
2127064, 2389146, 11788826, 16627867, 19357118, 21270641, 22416021, 22499950, 23261302, 23477994, 23891469, 24150548, 24498942, 24905662, 25186273, 26139845, 26228299, 26373788, 27618201, 27637300, 27779714 |
ClinVar |
|
DNAH8
|
Causal
Pathogenic evidence from ClinVar
|
24307375 |
ClinVar |
|
DNAI1
|
Causal
Pathogenic evidence from ClinVar
|
10577904, 11231901, 11713099, 16858015, 18434704, 19675306, 21143860, 21270641, 26918822, 29363216 |
ClinVar |
|
DNAI2
|
Causal
Pathogenic evidence from ClinVar
|
18950741, 23261302, 23891469, 25802884 |
ClinVar |
|
DNAL1
|
Causal
Pathogenic evidence from ClinVar
|
21496787 |
ClinVar |
|
DRC1
|
Causal
Pathogenic evidence from ClinVar
|
23354437 |
ClinVar |
| Primary ciliary dyskinesia |
244 |
DNAAF4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNAAF5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNAH1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNAH11
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNAH5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNAH9
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNAI1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNAI2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNAJB13
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNAL1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DRC1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Primary Ciliary Dyskinesia |
C4551720 |
DNAAF4
|
Causal
Pathogenic evidence from ClinVar
|
23872636 |
ClinVar |
|
DNAAF5
|
Causal
Pathogenic evidence from ClinVar
|
23040496 |
ClinVar |
|
DNAH1
|
Causal
Pathogenic evidence from ClinVar
|
25927852 |
ClinVar |
|
DNAH11
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNAH5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNAH9
|
Causal
Pathogenic evidence from ClinVar
|
30471717, 30471718 |
ClinVar |
|
DNAI1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNAI2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNAJB13
|
Causal
Pathogenic evidence from ClinVar
|
27486783 |
ClinVar |
|
DNAL1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus |
C4551906 |
DNAAF5
|
Causal
Pathogenic evidence from ClinVar
|
23040496 |
ClinVar |
|
DNAH1
|
Causal
Pathogenic evidence from ClinVar
|
25927852 |
ClinVar |
|
DNAH5
|
Causal
Pathogenic evidence from ClinVar
|
23477994 |
ClinVar |
|
DNAH8
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNAH9
|
Causal
Pathogenic evidence from ClinVar
|
30471717, 30471718 |
ClinVar |
|
DNAI1
|
Causal
Pathogenic evidence from ClinVar
|
10577904, 11231901, 16858015, 18950741, 19675306, 21270641, 23477994, 25186273 |
ClinVar |
|
DNAI2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNAJB13
|
Causal
Pathogenic evidence from ClinVar
|
27486783 |
ClinVar |
|
DNAL1
|
Causal
Pathogenic evidence from ClinVar
|
21496787 |
ClinVar |
|
DRC1
|
Causal
Pathogenic evidence from ClinVar
|
23354437 |
ClinVar |
| CILIARY DYSKINESIA, PRIMARY, 18 |
C3543825 |
DNAAF5
|
Causal
Pathogenic evidence from ClinVar
|
23040496, 25232951, 29363216 |
ClinVar |
| CILIARY DYSKINESIA, PRIMARY, 37 |
C4539798 |
DNAH1
|
Causal
Pathogenic evidence from ClinVar
|
11371505, 25927852, 27573432, 28552195 |
ClinVar |
| CILIARY DYSKINESIA, PRIMARY, 7 (disorder) |
C2678473 |
DNAH11
|
Causal
Pathogenic evidence from ClinVar
|
12142464, 18022865, 22102620, 25186273 |
ClinVar |
| CILIARY DYSKINESIA, PRIMARY, 3 |
C1837618 |
DNAH5
|
Causal
Pathogenic evidence from ClinVar
|
11062149, 11788826, 11912187, 15750039, 16627867, 19357118, 19630565, 21270641, 22416021, 23261302, 23477994, 23891469, 24498942, 25066065, 25186273, 26228299, 26938784, 27637300 |
ClinVar |
| CILIARY DYSKINESIA, PRIMARY, 40 |
C4749028 |
DNAH9
|
Causal
Pathogenic evidence from ClinVar
|
30471717, 30471718 |
ClinVar |
| CILIARY DYSKINESIA, PRIMARY, 9 |
C2676235 |
DNAI2
|
Causal
Pathogenic evidence from ClinVar
|
18950741, 23261302, 23891469, 25802884 |
ClinVar |
| CILIARY DYSKINESIA, PRIMARY, 34 |
C4310722 |
DNAJB13
|
Causal
Pathogenic evidence from ClinVar
|
27486783 |
ClinVar |
| CILIARY DYSKINESIA, PRIMARY, 16 |
C3151460 |
DNAL1
|
Causal
Pathogenic evidence from ClinVar
|
21496787 |
ClinVar |
| CILIARY DYSKINESIA, PRIMARY, 21 |
C3809087 |
DRC1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |