Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED	300991 C4478372 MONDO:0010517 OMIM:300991	DNAAF6	Causal	23715323 24421334 28041644 28176794 32170493 33106461 35873488 37900281 38051289 38408845	CTD, ClinGen, ClinVar, Disgenet, HPO	—
CILIARY DYSKINESIA, PRIMARY, 37	617577 C4539798 MONDO:0033204	DNAH1	Causal	11371505 24360805 25927852 31213628 31507630 31765523	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
CILIARY DYSKINESIA, PRIMARY, 38	618063 C4748052 MONDO:0054843	CFAP300	Causal	29727692 29727693	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	—
CILIARY DYSKINESIA, PRIMARY, 39	618254 C4748841 MONDO:0032637	LRRC56	Causal	147810 30388400	ClinGen, ClinVar, Disgenet, GenCC, HPO	—
CILIARY DYSKINESIA, PRIMARY, 40	618300 C4749028 MONDO:0032664	DNAH9	Causal	30471717 30471718	ClinGen, ClinVar, Disgenet, HPO	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
CILIARY DYSKINESIA, PRIMARY, 40	618300 C4749028 MONDO:0032664	SRP54	Causal	—	Disgenet	Protein export SRP-dependent cotranslational protein targeting to membrane
CILIARY DYSKINESIA, PRIMARY, 42	618695 MONDO:0032872	MCIDAS	Causal	21543332 22231168 24934224 25048963 30237576 30877126 31879361 32802948 33795320 34569065	ClinGen, ClinVar, GWAS catalog, HPO	—
CILIARY DYSKINESIA, PRIMARY, 43	618699 C5231466 MONDO:0032874	FOXJ1	Causal	12818891 19011629 19011630 23715323 25048963 31630787 32060058 33077954 34132502 37469238 37813609 9739041	ClinGen, ClinVar, Disgenet, GenCC, HPO	—
CILIARY DYSKINESIA, PRIMARY, 44	618781 C5394063 MONDO:0032914	NEK10	Causal	29581457 31959991 32414360 33875846 35728977 37998386	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	—
CILIARY DYSKINESIA, PRIMARY, 45	C5394104 618801 MONDO:0032924	DNAH6	Causal	—	Disgenet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
CILIARY DYSKINESIA, PRIMARY, 45	C5394104 618801 MONDO:0032924	TTC12	Causal	31978331 36273201 37325566 38992144	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	—
CILIARY DYSKINESIA, PRIMARY, 46	619436 C5543646 MONDO:0030332	STK36	Causal	10806483 16055717 19305393 28543983 36786090 36989043 37584603	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	—
CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY	619466 C5561951 MONDO:0030346	TP73	Causal	34077761	ClinGen, ClinVar, Disgenet, HPO	p53 signaling pathway Hippo signaling pathway Neurotrophin signaling pathway +8 more
CILIARY DYSKINESIA, PRIMARY, 48, WITHOUT SITUS INVERSUS	620032 C5774214 MONDO:0031054	NME5	Causal	12169685 14499630 21391306 21746835 22065640 23715323 24424412 25789548 31479451 32185794 32950024 37296588 37957793	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	—
CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS	620197 C5774291 MONDO:0859353	CFAP74	Causal	20421426 23715323 32555313 36047773 36459505 39362668	ClinGen, ClinVar, Disgenet, HPO	—
CILIARY DYSKINESIA, PRIMARY, 51	620438 C5830608 MONDO:0957396	BRWD1	Causal	31959991	ClinVar, Disgenet, HPO	Interleukin-7 signaling Chromatin modifying enzymes
CILIARY DYSKINESIA, PRIMARY, 52	620570 MONDO:0957922	DAW1	Causal	—	ClinGen, ClinVar, GenCC, HPO	—
CILIARY DYSKINESIA, PRIMARY, 53	620642 C5882728 MONDO:0957991	CLXN	Causal	23715323 31286071 36727596 38860289	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	—
PRIMARY CILIARY DYSKINESIA	244 C4551720 MONDO:0016575PS244400	CCDC39	Causal	20301301	Disgenet, GWAS catalog, Orphanet	—
		CCDC40	Causal	20301301	Disgenet, Orphanet	—
		CCNO	Causal	24747639 24824133	Disgenet, Orphanet	—
		CFAP221	Causal	18039845 20421426 23715323 31636325	ClinGen, Disgenet, GWAS catalog, Orphanet	—
		CFAP300	Causal	29727692 29727693	CTD, Disgenet, Orphanet	—
		CFAP57	Causal	23715323 32764743	ClinGen, GWAS catalog	—
		DAW1	Causal	36074124	Orphanet	—
		DNAAF1	Causal	20301301	CTD, Disgenet, Orphanet	—
		DNAAF11	Causal	20301301 23122589	Disgenet, Orphanet	—
		DNAAF19	Causal	20301301 22581229	Disgenet, GWAS catalog, Orphanet	—
		DNAAF2	Causal	20301301	Disgenet, Orphanet	—
		DNAAF3	Causal	20301301 22387996	CTD, Disgenet, Orphanet	—
		DNAAF4	Causal	23872636	CTD, Disgenet, Orphanet	—
		DNAAF5	Causal	20301301 23040496	ClinVar, Disgenet, GWAS catalog, Orphanet	—
		DNAAF6	Causal	28041644	Disgenet, GWAS catalog, Orphanet	—
		DNAH1	Causal	25927852	Disgenet, Orphanet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		DNAH11	Causal	20301301	Disgenet, Orphanet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		DNAH5	Causal	20301301	Disgenet, GWAS catalog, Orphanet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		DNAH7	Causal	34476482	Orphanet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		DNAH8	Causal	—	ClinGen	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		DNAH9	Causal	30471717 30471718	Disgenet, GenCC, Orphanet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		DNAI1	Causal	20301301	CTD, Disgenet, Orphanet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		DNAI2	Causal	20301301	Disgenet, Orphanet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		DNAL1	Causal	20301301	Disgenet, GWAS catalog, Orphanet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		DRC1	Causal	23354437	CTD, Disgenet, Orphanet	—
		DRC2	Causal	24094744	Orphanet	—
		HYDIN	Causal	20301301 23022101	CTD, Disgenet, Orphanet	—
		MCIDAS	Causal	25048963	Disgenet, GWAS catalog, Orphanet	—
		ODAD1	Causal	23261302 23261303	ClinGen, Disgenet, Orphanet	—
		ODAD2	Causal	23849778	Disgenet, Orphanet	—
		ODAD3	Causal	25192045	CTD, Disgenet, Orphanet	—
		ODAD4	Causal	27486780	Disgenet, GWAS catalog, Orphanet	—
		OFD1	Causal	neant	Disgenet, GWAS catalog, Orphanet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		RPGR	Causal	neant	Disgenet, GWAS catalog, Orphanet	—
		RSPH1	Causal	23993197	Disgenet, GWAS catalog, Orphanet	—
		RSPH4A	Causal	20301301	Disgenet, GWAS catalog, Orphanet	—
		RSPH9	Causal	20301301	Disgenet, GWAS catalog, Orphanet	—
		SPAG1	Causal	24055112	Disgenet, GenCC, Orphanet	—
PRIMARY CILIARY DYSKINESIA 10	MONDO:0012918	DNAAF2	Causal	19052621 23525783 23715323 29358401 31107948 32638265 33635866 34785929	ClinGen, ClinVar, GWAS catalog	—
PRIMARY CILIARY DYSKINESIA 11	MONDO:0012978	RSPH4A	Causal	16507594 19200523 23715323 23798057 25789548 32203505 33852348	ClinGen, ClinVar, HPO	—
PRIMARY CILIARY DYSKINESIA 12	MONDO:0012979	RSPH9	Causal	19200523 23715323 25789548 27626380 27687975 30383886 31285900 32709945 33577779 35046476 36059358 36873931	ClinGen, ClinVar, GWAS catalog	—
PRIMARY CILIARY DYSKINESIA 13	MONDO:0013174	DNAAF1	Causal	18385425 19944400 19944405 27261005 29228333 30067075 32502479	CTD, ClinGen, ClinVar	—
PRIMARY CILIARY DYSKINESIA 14	MONDO:0013434	CCDC39	Causal	21131972	ClinGen, ClinVar, Orphanet	—
PRIMARY CILIARY DYSKINESIA 15	MONDO:0013435	CCDC40	Causal	21131974	ClinGen, ClinVar, Disgenet	—
PRIMARY CILIARY DYSKINESIA 16	MONDO:0013525	DNAL1	Causal	20451645 21496787 30300419 31213628 33479112 36841509	ClinGen, ClinVar, Disgenet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
PRIMARY CILIARY DYSKINESIA 17	MONDO:0013854	DNAAF19	Causal	22581229	ClinGen, ClinVar, GWAS catalog	—
PRIMARY CILIARY DYSKINESIA 18	MONDO:0013940	DNAAF5	Causal	23040496 23715323 25232951 29358401 29363216 32367404 37104040	ClinGen, ClinVar, GWAS catalog	—
PRIMARY CILIARY DYSKINESIA 19	MONDO:0013979	DNAAF11	Causal	23122589	ClinGen, ClinVar, GWAS catalog	—
PRIMARY CILIARY DYSKINESIA 2	MONDO:0011718	DNAAF3	Causal	10745040 22387996	CTD, ClinGen, ClinVar	—
PRIMARY CILIARY DYSKINESIA 20	MONDO:0014030	ODAD1	Causal	23261303 23261302	ClinGen, ClinVar, GWAS catalog	—
PRIMARY CILIARY DYSKINESIA 21	MONDO:0014123	DRC1	Causal	23354437 23715323 25411337 31270959 32108610 34169321 34815526 35873463 36856967	ClinGen, ClinVar, Orphanet	—
PRIMARY CILIARY DYSKINESIA 23	MONDO:0014193	ODAD2	Causal	23849778	ClinGen, ClinVar, GenCC	—
PRIMARY CILIARY DYSKINESIA 24	MONDO:0014202	RSPH1	Causal	23993197 35389161 31772028 25789548 25186273 24568568 24518672	CTD, ClinGen, ClinVar	—
PRIMARY CILIARY DYSKINESIA 25	MONDO:0014203	DNAAF4	Causal	—	ClinGen, ClinVar, GenCC	—
PRIMARY CILIARY DYSKINESIA 27	MONDO:0014215	DRC2	Causal	23991085 24094744	ClinGen, ClinVar, Orphanet	—
PRIMARY CILIARY DYSKINESIA 28	MONDO:0014216	SPAG1	Causal	24055112	ClinGen, ClinVar, GWAS catalog	—
PRIMARY CILIARY DYSKINESIA 29	C4014534 MONDO:0014378	CCNO	Causal	24747639 38871375 38784318 38222993 37503872 37477497 37220549 36949367 36157652 34102041 33577779 32502479 31765523 26777464 24824133	ClinGen, ClinVar, Disgenet	—
PRIMARY CILIARY DYSKINESIA 3	MONDO:0012085	DNAH5	Causal	11788826 11912187 12775878 15750039 16627867 19450574 32823934	ClinGen, ClinVar, GWAS catalog	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
PRIMARY CILIARY DYSKINESIA 30	MONDO:0014465	ODAD3	Causal	23715323 24067530 25192045 25224326 30504913 31213628 31469207 32490514 33719352	ClinGen, ClinVar, GWAS catalog	—
PRIMARY CILIARY DYSKINESIA 35	MONDO:0014910	ODAD4	Causal	17961536 23715323 25860617 27486780 31765523 33746037 34215651	ClinGen, ClinVar, GWAS catalog	—
PRIMARY CILIARY DYSKINESIA 5	MONDO:0012088	HYDIN	Causal	23022101 14985390 28441829 31089940 36112114 36742411	ClinGen, ClinVar, GWAS catalog	—
PRIMARY CILIARY DYSKINESIA 7	MONDO:0012748	DNAH11	Causal	—	ClinGen, ClinVar, GenCC	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
PRIMARY CILIARY DYSKINESIA 9	MONDO:0012906	DNAI2	Causal	11153919 18950741 20709053 2147183 23261302 30387321 33167880 7698982	ClinGen, ClinVar, Disgenet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more

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Ciliary dyskinesia

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