Disease Term Disease ID Gene Symbol Classification References Source
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