Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
CILIARY DYSKINESIA, PRIMARY, 40	618300 C4749028 MONDO:0032664	DNAH9	Causal	30471717 30471718	ClinGen ClinVar Disgenet HPO
		SRP54	Causal	—	Disgenet
		E2F6	Unknown	—	Disgenet
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, 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
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
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, 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
CILIARY DYSKINESIA, PRIMARY, 51	620438 C5830608 MONDO:0957396	BRWD1	Causal	31959991	ClinVar Disgenet HPO
CILIARY DYSKINESIA, PRIMARY, 52	620570 MONDO:0957922	DAW1	Causal	—	ClinGen ClinVar GenCC HPO
CILIARY DYSKINESIA, PRIMARY, 52, WITH OR WITHOUT SITUS INVERSUS	C5882714	DAW1	Unknown	—	Disgenet
CILIARY DYSKINESIA, PRIMARY, 53	620642 C5882728 MONDO:0957991	CLXN	Causal	23715323 31286071 36727596 38860289	ClinGen ClinVar Disgenet GWAS catalog HPO
CILIARY DYSKINESIA, PRIMARY, 54	621125 MONDO:0100607	CFAP54	Unknown	20421426 23715323 26224312 37725231 39362668	CTD ClinGen ClinVar HPO
CILIARY DYSKINESIA, PRIMARY, 6	610852 C1970506 MESH:C567057	NME8	Unknown	—	CTD Disgenet HPO
CILIARY DYSKINESIA, PRIMARY, 7	C2678473 611884 MESH:C567504	CDCA7L	Unknown	—	Disgenet
CILIARY DYSKINESIA, PRIMARY, 7	C2678473 611884 MESH:C567504	DNAH11	Unknown	—	CTD Disgenet HPO
CILIARY DYSKINESIA, PRIMARY, 9	612444 C2676235 MESH:C567310	DNAI2	Unknown	—	CTD Disgenet HPO
CILIARY MOTILITY DISORDERS	C0008780	AK7	Unknown	—	Disgenet
		BRWD1	Unknown	—	Disgenet
		CCDC39	Unknown	—	Disgenet
		CCDC40	Unknown	—	Disgenet
		CCDC65	Unknown	—	Disgenet
		CCNO	Unknown	—	Disgenet
		CDCA7L	Unknown	—	Disgenet
		CFAP221	Unknown	—	Disgenet
		CFAP298	Unknown	—	Disgenet
		CFAP300	Unknown	—	Disgenet
		CFAP43	Unknown	—	Disgenet
		CFAP57	Unknown	—	Disgenet
		CFAP74	Unknown	—	Disgenet
		CLXN	Unknown	—	Disgenet
		CYBB	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
		DNAAF6	Unknown	—	Disgenet
		DNAH1	Unknown	—	Disgenet
		DNAH10	Unknown	—	Disgenet

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Ciliary dyskinesia