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, 40	C4749028	E2F6	Unknown	—	Disgenet	Polycomb repressive complex G1/S-Specific Transcription Transcriptional Regulation by E2F6
CILIARY DYSKINESIA, PRIMARY, 41	618449 C5193103 MONDO:0032757	GAS2L2	Unknown	30665704	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	—
CILIARY DYSKINESIA, PRIMARY, 5	608647 C1837615 MESH:C563886	HYDIN	Unknown	—	CTD, Disgenet, HPO	—
CILIARY DYSKINESIA, PRIMARY, 50	620356 C5830473 MONDO:0957252	DNAH7	Unknown	34476482 35543642	ClinGen, ClinVar, Disgenet, HPO	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
CILIARY DYSKINESIA, PRIMARY, 52, WITH OR WITHOUT SITUS INVERSUS	C5882714	DAW1	Unknown	—	Disgenet	—
CILIARY DYSKINESIA, PRIMARY, 54	621125 MONDO:0100607	CFAP54	Unknown	20421426 23715323 26224312 37725231 39362668	CTD, ClinGen, ClinVar, 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	—
		DAW1	Unknown	—	Disgenet	—
		DNAAF1	Unknown	—	Disgenet	—
		DNAAF11	Unknown	—	Disgenet	—
		DNAAF19	Unknown	—	Disgenet	—
		DNAAF2	Unknown	—	Disgenet	—
		DNAAF3	Unknown	—	Disgenet	—
		DNAAF4	Unknown	—	Disgenet	—
		DNAAF5	Unknown	—	Disgenet	—
		DNAH11	Unknown	—	Disgenet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		DNAH5	Unknown	—	Disgenet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		DNAH7	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
		HYDIN	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	C4551720 244 MONDO:0016575	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
		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 42	C5231464	MCIDAS	Unknown	—	Disgenet	—
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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