Disease Term Disease ID Gene Symbol References
Ciliary Motility Disorders C0008780 DNAH5 25186273, 16627867, 23891469, 27779714, 24498942, 19357118, 22499950, 23477994, 24905662, 2127064, 23261302, 11788826, 27618201, 24150548, 27637300, 21270641, 22416021, 26228299, 26139845, 26373788, 2389146
DNAH8 24307375
GAS8
PRKAR1B
RPGR 9399904, 10937588, 9855162
SPAG1
OFD1
DNAH11 27637300, 25802884, 18022865, 24450482, 22184204, 26139845, 22102620, 20513915
CCNO 26139845, 26777464, 24824133, 24747639
RPGRIP1L 17558407, 17558409
DNAAF11
DNAI1 11231901, 21143860, 29363216, 18434704, 16858015, 10577904, 19675306, 21270641, 26918822, 11713099
NME8
ZMYND10 23891469, 23891471
EPDR1
HYDIN
DNAAF5 23040496, 25232951, 24307375
CCDC40 23255504, 22693285, 21131974, 22499950, 24498942, 23891469, 25619595
ODAD2 23849778
DNAAF2
CDCA7L
IFT122 20493458
DNAH7
INPP5E 19668215, 19668216
CFAP298 24094744
DNAI2 23891469, 18950741, 23261302, 25802884
DNAL1 21496787
RSPH3
CCDC65 23991085, 25802884, 24094744
RSPH1 24518672, 23993197, 26139845, 24568568
DRC1 23354437
ODAD1 23261302, 23261303
ODAD3
DNAAF1 19944405, 19944400
TTC14 23255504, 23891469, 21131972
DNAAF4
RSPH9 23993197, 24307375, 19200523, 22384920
CCDC39 27637300, 21131972, 2325550, 23891469, 22693295, 24498942, 23255504, 25186273, 22693285
MCIDAS
RSPH4A 25789548, 22448264, 23993197, 19200523, 23798057
DNAAF3 22387996
CCDC103 23891469, 26123568, 22581229, 28790179, 24357714, 27637300
DNAH8-AS1 24307375
FAM187A 23891469, 24357714, 26123568, 28790179, 22581229, 27637300
DNAAF4-CCPG1
CILIARY DYSKINESIA, PRIMARY, 3 C1837618 DNAH5 23477994, 21270641, 26938784, 19357118, 11062149, 25186273, 11912187, 16627867, 26228299, 11788826, 24498942, 19630565, 23891469, 25066065, 22416021, 27637300, 15750039, 23261302
Primary Ciliary Dyskinesia C4551720, 244 DNAH5
DNAH9 30471718, 30471717
FOXJ1 31630787
GAS8 26387594, 30166424
RPGR
SPAG1 24055112
OFD1
DNAH11
CCNO 24824133, 24747639
RPGRIP1L 17558407, 17558409
DNAAF11 23122589
DNAH1 25927852
DNAI1
STK36 28543983
ZMYND10 23891469, 23891471
HYDIN 23022101
DNAAF5 23040496
CCDC40
ODAD2 23849778
DNAAF2
IFT122 20493458
INPP5E 19668216, 19668215
CFAP298 24094744
DNAI2
SPEF2 31545650
ODAD4 27486780
DNAL1
RSPH3 26073779
CFAP300 29727693, 29727692
CCDC65 30166424, 24094744
RSPH1 23993197
DRC1 23354437
ODAD1 23261302, 23261303
LRRC56 30388400
ODAD3 25192045
DNAAF1
DNAAF6 28041644
DNAAF4 23872636
CFAP221 31636325
RSPH9
GAS2L2 30649222, 30665704
CCDC39
MCIDAS 25048963
RSPH4A
DNAAF3 22387996
DNAJB13 27486783
CCDC103 22581229
TTC12
NEK10
NME8
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus C4551906 DNAH5 23477994
DNAH8
DNAH9 30471717, 30471718
FOXJ1 31630787
GAS8 26387594
RPGR
SPAG1 24055112
OFD1
CCNO 24824133, 24747639
DNAAF11 24307375, 23122589, 23891469
DNAH1 25927852
DNAI1 11231901, 10577904, 19675306, 23477994, 16858015, 21270641, 25186273, 18950741
STK36 28543983
ZMYND10 23891471, 23891469
HYDIN 23022101
DNAAF5 23040496
CCDC40 21131974
ODAD2 23849778
CFAP298 24094744
DNAI2
SPEF2 31545650
ODAD4 27486780
DNAL1 21496787
RSPH3 26073779
CFAP300 29727692, 29727693
CCDC65 24094744
RSPH1 24568568, 23993197
DRC1 23354437
ODAD1 23261302, 23261303
LRRC56 30388400
ODAD3 25224326, 25192045
DNAAF1 19944400, 19944405
DNAAF6 28041644
DNAAF4 23872636
CFAP221 31636325
RSPH9
GAS2L2 30649222
MCIDAS 25048963
RSPH4A 23798057, 24824133
DNAAF3 22387996
DNAJB13 27486783
CCDC103 22581229
FAM187A
CILIARY DYSKINESIA, PRIMARY, 40 C4749028 DNAH9 30471717, 30471718
CILIARY DYSKINESIA, PRIMARY, 33 C4225230 GAS8 26387594, 27120127, 27472056
URAHP
CILIARY DYSKINESIA, PRIMARY, 28 C3809706 SPAG1 26228299, 24055112, 27637300
CILIARY DYSKINESIA, PRIMARY, 7 (disorder) C2678473 DNAH11 25186273, 18022865, 22102620, 12142464
CDCA7L
CILIARY DYSKINESIA, PRIMARY, 29 C4014534 CCNO 26777464, 24747639, 30166424
CILIARY DYSKINESIA, PRIMARY, 19 C3543826 DNAAF11 23891469, 23122589, 23527195, 27637300, 25186273
CILIARY DYSKINESIA, PRIMARY, 37 C4539798 DNAH1 28552195, 27573432, 25927852, 11371505
CILIARY DYSKINESIA, PRIMARY, 6 C1970506 NME8
CILIARY DYSKINESIA, PRIMARY, 22 C3809543 ZMYND10 23891471, 23891469, 29601588, 25186273
Ciliary Dyskinesia, Primary, 5 C1837615 HYDIN 30712880, 23022101
CILIARY DYSKINESIA, PRIMARY, 18 C3543825 DNAAF5 25232951, 29363216, 23040496
CILIARY DYSKINESIA, PRIMARY, 14 C3151136 CCDC40
CCDC39 21131972, 23255504, 24498942, 25186273, 24896178, 23891469, 22693285
CILIARY DYSKINESIA, PRIMARY, 15 C3151137 CCDC40 22499950, 21131974, 23255504, 22693285
CILIARY DYSKINESIA, PRIMARY, 23 C3809548 ODAD2 23849778, 24203976, 25186273
CILIARY DYSKINESIA, PRIMARY, 10 C2675867 DNAAF2 19052621
CILIARY DYSKINESIA, PRIMARY, 26 C3809684 CFAP298 24094744
CILIARY DYSKINESIA, PRIMARY, 9 C2676235 DNAI2 25802884, 18950741, 23261302, 23891469
PONTOCEREBELLAR HYPOPLASIA, TYPE 12 C4748873 COASY 30089828
CILIARY DYSKINESIA, PRIMARY, 35 C4310721 ODAD4 27486780
CILIARY DYSKINESIA, PRIMARY, 16 C3151460 DNAL1 21496787
CILIARY DYSKINESIA, PRIMARY, 32 C4225311 RSPH3 26073779
CILIARY DYSKINESIA, PRIMARY, 38 C4748052 CFAP300 29727693, 29727692
CILIARY DYSKINESIA, PRIMARY, 27 C3809701 CCDC65
CILIARY DYSKINESIA, PRIMARY, 24 C3809634 RSPH1 25186273, 23993197
CILIARY DYSKINESIA, PRIMARY, 21 C3809087 DRC1
CILIARY DYSKINESIA, PRIMARY, 20 C3540844 ODAD1 23261303
CILIARY DYSKINESIA, PRIMARY, 39 C4748841 LRRC56 30388400
CILIARY DYSKINESIA, PRIMARY, 30 C4015016 ODAD3 25192045, 25224326
CILIARY DYSKINESIA, PRIMARY, 13 C2750790 DNAAF1 19944405, 19944400, 25186273, 18385425
CILIARY DYSKINESIA, PRIMARY, 25 C3809641 DNAAF4 23872636
DNAAF4-CCPG1
CILIARY DYSKINESIA, PRIMARY, 12 C2675228 RSPH9
CILIARY DYSKINESIA, PRIMARY, 11 C2675229 RSPH4A 23798057, 25186273, 19200523
CILIARY DYSKINESIA, PRIMARY, 2 (disorder) C1847554 DNAAF3 22387996
CILIARY DYSKINESIA, PRIMARY, 34 C4310722 DNAJB13 27486783
CILIARY DYSKINESIA, PRIMARY, 17 C3542550 CCDC103 22581229, 24357714, 28790179, 27637300, 25186273, 26123568
FAM187A 24357714, 22581229, 27637300, 26123568, 28790179