Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CILIARY DYSKINESIA, PRIMARY, 1	244400	DNAI1	Unknown	—	HPO	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
CILIARY DYSKINESIA, PRIMARY, 10	612518 C2675867 MESH:C567287	DNAAF2	Unknown	—	CTD, Disgenet, HPO	—
CILIARY DYSKINESIA, PRIMARY, 11	612649 C2675229 MESH:C567212	RSPH4A	Unknown	—	CTD, Disgenet, HPO	—
CILIARY DYSKINESIA, PRIMARY, 12	612650 C2675228 MESH:C567211	RSPH9	Unknown	—	CTD, Disgenet, HPO	—
CILIARY DYSKINESIA, PRIMARY, 13	613193 C2750790 MESH:C567713	DNAAF1	Unknown	—	CTD, Disgenet, HPO	—
CILIARY DYSKINESIA, PRIMARY, 13	613193 C2750790 MESH:C567713	TAF1C	Unknown	—	Disgenet	B-WICH complex positively regulates rRNA expression RNA Polymerase I Transcription Initiation RNA Polymerase I Promoter Escape +1 more
CILIARY DYSKINESIA, PRIMARY, 14	613807 C3151136 OMIM:613807	CCDC39	Unknown	—	CTD, Disgenet, HPO	—
CILIARY DYSKINESIA, PRIMARY, 14	613807 C3151136 OMIM:613807	TTC14	Unknown	—	Disgenet	—
CILIARY DYSKINESIA, PRIMARY, 15	613808 C3151137 OMIM:613808	CCDC40	Unknown	—	CTD, Disgenet, HPO	—
CILIARY DYSKINESIA, PRIMARY, 15	613808 C3151137 OMIM:613808	GAA	Unknown	—	Disgenet	Galactose metabolism Starch and sucrose metabolism Metabolic pathways +4 more
CILIARY DYSKINESIA, PRIMARY, 16	614017 C3151460 OMIM:614017	DNAL1	Unknown	—	CTD, Disgenet, HPO	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
CILIARY DYSKINESIA, PRIMARY, 17	614679 C3542550 OMIM:614679	DNAAF19	Unknown	—	CTD, Disgenet, HPO	—
		FAM187A	Unknown	—	Disgenet	—
		GFAP	Unknown	—	Disgenet	JAK-STAT signaling pathway Nuclear signaling by ERBB4
CILIARY DYSKINESIA, PRIMARY, 18	614874 C3543825 OMIM:614874	DNAAF5	Unknown	—	CTD, Disgenet, HPO	—
CILIARY DYSKINESIA, PRIMARY, 18	614874 C3543825 OMIM:614874	PRKAR1B	Unknown	—	Disgenet	Insulin signaling pathway PKA activation PKA activation in glucagon signalling +7 more
CILIARY DYSKINESIA, PRIMARY, 19	614935 C3543826 OMIM:614935	DNAAF11	Unknown	—	CTD, Disgenet, HPO	—
CILIARY DYSKINESIA, PRIMARY, 2	606763	DNAAF3	Unknown	—	HPO	—
CILIARY DYSKINESIA, PRIMARY, 20	615067 C3540844 OMIM:615067	ODAD1	Unknown	—	CTD, Disgenet, HPO	—
CILIARY DYSKINESIA, PRIMARY, 21	615294 C3809087 OMIM:615294	DRC1	Unknown	—	CTD, Disgenet, HPO	—
CILIARY DYSKINESIA, PRIMARY, 22	615444 C3809543 OMIM:615444	ZMYND10	Unknown	—	CTD, Disgenet, HPO	—
CILIARY DYSKINESIA, PRIMARY, 23	615451 C3809548 OMIM:615451	ODAD2	Unknown	—	CTD, Disgenet, HPO	—
CILIARY DYSKINESIA, PRIMARY, 24	615481 C3809634 OMIM:615481	RSPH1	Unknown	—	CTD, Disgenet, HPO	—
CILIARY DYSKINESIA, PRIMARY, 25	615482 C3809641 OMIM:615482	DNAAF4	Unknown	—	CTD, Disgenet, HPO	—
CILIARY DYSKINESIA, PRIMARY, 26	615500 C3809684 OMIM:615500	CFAP298	Unknown	—	CTD, Disgenet, HPO	—
CILIARY DYSKINESIA, PRIMARY, 26	615500 C3809684 OMIM:615500	CFAP298-TCP10L	Unknown	—	Disgenet	—
CILIARY DYSKINESIA, PRIMARY, 27	C3809701 615504 OMIM:615504	CCDC65	Unknown	—	Disgenet	—
CILIARY DYSKINESIA, PRIMARY, 27	C3809701 615504 OMIM:615504	DRC2	Unknown	—	CTD, HPO	—
CILIARY DYSKINESIA, PRIMARY, 28	615505 C3809706 OMIM:615505	SPAG1	Unknown	—	CTD, Disgenet, HPO	—
CILIARY DYSKINESIA, PRIMARY, 28	615505 C3809706 OMIM:615505	VPS13B	Unknown	—	Disgenet	—
CILIARY DYSKINESIA, PRIMARY, 29	615872 OMIM:615872	CCNO	Unknown	—	CTD, HPO	—
CILIARY DYSKINESIA, PRIMARY, 3	C1837618 608644	BACH2	Unknown	—	Disgenet	—
		CCDC40	Unknown	—	Disgenet	—
		CREBBP	Unknown	—	Disgenet	Polycomb repressive complex Viral life cycle - HIV-1 cAMP signaling pathway +52 more
		DNAH11	Unknown	—	Disgenet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		DNAH5	Unknown	—	Disgenet, HPO	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		GAS2L2	Unknown	—	Disgenet	—
		MCIDAS	Unknown	—	Disgenet	—
		MPEG1	Unknown	—	Disgenet	—
		NFKB1	Unknown	—	Disgenet	Antifolate resistance MAPK signaling pathway Ras signaling pathway +96 more
CILIARY DYSKINESIA, PRIMARY, 30	616037 C4015016 OMIM:616037	ODAD3	Unknown	—	CTD, Disgenet, HPO	—
CILIARY DYSKINESIA, PRIMARY, 32	616481 C4225311 OMIM:616481	RSPH3	Unknown	—	CTD, Disgenet, HPO	—
CILIARY DYSKINESIA, PRIMARY, 33	616726 OMIM:616726 C4225230	DRC4	Unknown	—	CTD, HPO	—
CILIARY DYSKINESIA, PRIMARY, 33	616726 OMIM:616726 C4225230	GAS8	Unknown	—	Disgenet	Activation of SMO
CILIARY DYSKINESIA, PRIMARY, 34	617091 C4310722 OMIM:617091	DNAJB13	Unknown	—	CTD, Disgenet, HPO	—
CILIARY DYSKINESIA, PRIMARY, 35	617092 C4310721 OMIM:617092	ODAD4	Unknown	—	CTD, Disgenet, HPO	—
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, 41	618449 C5193103 MONDO:0032757	GAS2L2	Unknown	30665704	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	—
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, 7	611884 C2678473 MESH:C567504	DNAH11	Unknown	—	CTD, Disgenet, HPO	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
CILIARY MOTILITY DISORDERS	C0008780	CCDC39	Unknown	—	Disgenet	—
		CCDC40	Unknown	—	Disgenet	—
		CCDC65	Unknown	—	Disgenet	—
		CCNO	Unknown	—	Disgenet	—
		CFAP298	Unknown	—	Disgenet	—
		CFAP300	Unknown	—	Disgenet	—
		DNAAF1	Unknown	—	Disgenet	—
		DNAAF11	Unknown	—	Disgenet	—
		DNAAF19	Unknown	—	Disgenet	—
		DNAAF2	Unknown	—	Disgenet	—
		DNAAF3	Unknown	—	Disgenet	—
		DNAAF4	Unknown	—	Disgenet	—
		DNAAF5	Unknown	—	Disgenet	—
		DNAAF6	Unknown	—	Disgenet	—
		DNAH1	Unknown	—	Disgenet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		DNAH11	Unknown	—	Disgenet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		DNAH5	Unknown	—	Disgenet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		DNAH9	Unknown	—	Disgenet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		DNAI1	Unknown	—	Disgenet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		DNAJB13	Unknown	—	Disgenet	—
		DNAL1	Unknown	—	Disgenet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		DRC1	Unknown	—	Disgenet	—
		FAM187A	Unknown	—	Disgenet	—
		GAA	Unknown	—	Disgenet	Galactose metabolism Starch and sucrose metabolism Metabolic pathways +4 more
		GAS2L2	Unknown	—	Disgenet	—
		GAS8	Unknown	—	Disgenet	Activation of SMO
		GFAP	Unknown	—	Disgenet	JAK-STAT signaling pathway Nuclear signaling by ERBB4
		LRRC56	Unknown	—	Disgenet	—
		MCIDAS	Unknown	—	Disgenet	—
		ODAD1	Unknown	—	Disgenet	—
		ODAD2	Unknown	—	Disgenet	—
		ODAD3	Unknown	—	Disgenet	—
		ODAD4	Unknown	—	Disgenet	—
		PRKAR1B	Unknown	—	Disgenet	Insulin signaling pathway PKA activation PKA activation in glucagon signalling +7 more
		RSPH1	Unknown	—	Disgenet	—
		RSPH3	Unknown	—	Disgenet	—
		RSPH4A	Unknown	—	Disgenet	—
		RSPH9	Unknown	—	Disgenet	—
		SPAG1	Unknown	—	Disgenet	—
		TAF1C	Unknown	—	Disgenet	B-WICH complex positively regulates rRNA expression RNA Polymerase I Transcription Initiation RNA Polymerase I Promoter Escape +1 more
		TTC14	Unknown	—	Disgenet	—
		ZMYND10	Unknown	—	Disgenet	—
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	—
		CFAP300	Causal	29727692 29727693	CTD, Disgenet, 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
		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
		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	—
		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	—
		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	—
		ZMYND10	Causal	23891469 23891471	CTD, Disgenet, Orphanet	—
		CCDC65	Unknown	—	Disgenet	—
		CFAP298	Unknown	24094744	Disgenet, GWAS catalog, Orphanet	—
		DNAJB13	Unknown	27486783	CTD, Disgenet, Orphanet	—
		DRC4	Unknown	26387594	GWAS catalog, Orphanet	—
		GAS2L2	Unknown	30649222	Disgenet, GWAS catalog, Orphanet	—
		GAS8	Unknown	—	Disgenet	Activation of SMO
		LRRC56	Unknown	30388400	Disgenet, GWAS catalog, Orphanet	—
		RSPH3	Unknown	26073779	Disgenet, Orphanet	—
PRIMARY CILIARY DYSKINESIA 1	MONDO:0009484	DNAI1	Unknown	10577904 11713099 16858015 19675306 21143860 21270641 2147183 23715323 24306492 29363216 32823934 7698982	CTD, ClinGen	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
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 22	MONDO:0014192	ZMYND10	Causal	17413031 23715323 23891469 23891471 26139845 28823919 29916806	ClinGen, ClinVar, GWAS catalog	—
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 26	MONDO:0014211	CFAP298	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 32	MONDO:0014657	RSPH3	Causal	26073779	CTD, ClinGen, ClinVar	—
PRIMARY CILIARY DYSKINESIA 33	MONDO:0014750	DRC4	Causal	26387594	ClinGen, ClinVar, Disgenet	—
PRIMARY CILIARY DYSKINESIA 34	MONDO:0014909	DNAJB13	Causal	27486783 29363216 31650533	CTD, ClinGen, ClinVar	—
PRIMARY CILIARY DYSKINESIA 35	MONDO:0014910	ODAD4	Causal	17961536 23715323 25860617 27486780 31765523 33746037 34215651	ClinGen, ClinVar, GWAS catalog	—
PRIMARY CILIARY DYSKINESIA 42	C5231464	MCIDAS	Unknown	—	Disgenet	—
PRIMARY CILIARY DYSKINESIA 7	MONDO:0012748	DNAH11	Causal	—	ClinGen, ClinVar, GenCC	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
PRIMARY CILIARY DYSKINESIA, 2	C1847554 MESH:C535277	DNAAF3	Unknown	—	CTD, Disgenet	—
PRIMARY CILIARY DYSKINESIA, 3	MESH:C535278	DNAH5	Unknown	—	CTD	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more

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Ciliary dyskinesia

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