Primary ciliary dyskinesia | Gene-Disease Associations & Pathways | GeDiPNet

eDiPNet

Log in to bookmark this disease

Include the contents of this disease's 46 subtypes in the table below

Show the subtypes

Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
primary ciliary dyskinesia	EFO_1001352 MONDO_0010220 MONDO_0054843 MONDO:0016575 MONDO_0957922 MONDO_0033204 MONDO_0957252 MONDO_0014123 MONDO_0012088 244 C4551720 MONDO_0032924	CCDC39	Causal	21131972	Open Targets	—
		CCDC40	Causal	21131974	Open Targets	—
		CCNO	Causal	24747639 24824133 26777464 31765523 32502479 33577779 34102041 36157652 36949367 37220549 37477497 37503872 38222993 38784318 38871375	Open Targets	—
		CFAP221	Causal	31636325 38960684 39362668 40250778	ClinGen, Open Targets	—
		CFAP300	Causal	29727692 29727693	Open Targets	—
		CFAP57	Causal	—	ClinGen	—
		DAW1	Causal	28991257 36074124	ClinGen, Open Targets	—
		DNAAF11	Causal	23122589	Open Targets	—
		DNAAF19	Causal	22581229	Open Targets	—
		DNAAF3	Causal	10745040 22387996	Open Targets	—
		DNAAF5	Causal	23040496	Open Targets	—
		DNAH1	Causal	25927852	ClinGen, Open Targets	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		DNAH5	Causal	11788826 12775878 16627867 19357118 24150548 24912412 27637300 27779714 27988889 31118369 31638833 32089523 33589394 33974255 34391405 34962988 36585005 37319416 37575649 18037990	Open Targets	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		DNAH7	Causal	34476482 35543642	ClinGen, Open Targets	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		DRC1	Causal	23354437	Open Targets	—
		DRC2	Causal	23991085 24094744	Open Targets	—
		HYDIN	Causal	14985390 23022101 28441829 31089940 36112114 36742411	Open Targets	—
		ODAD1	Causal	23261302 23261303	Open Targets	—
		ODAD2	Causal	23849778 24203976 28801648 31765523 33577779 34349594 34394199	Open Targets	—
		OFD1	Causal	31373179 22548404 16783569 32276433 31366608	Open Targets	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		SPEF2	Causal	—	ClinGen	—
		ZMYND10	Causal	23891471	Open Targets	—
		CFAP298	Unknown	24094744 34215651	Open Targets	—
		CFAP43	Unknown	—	ClinGen	—
		CFAP46	Unknown	—	ClinGen	—
		DNAH10	Unknown	—	ClinGen	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		DRC4	Unknown	26387594	Open Targets	—
		GAS2L2	Unknown	30665704	Open Targets	—
		TTC12	Unknown	31978331	Open Targets	—
		TUBB4B	Unknown	38662826 39115449	Open Targets	Phagosome Gap junction Motor proteins +38 more