Ciliary dyskinesia | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
PRIMARY CILIARY DYSKINESIA	244 C4551720 MONDO:0016575	SPEF2	Causal	21715716 31048344 31545650 31942643 36615117 36873931	ClinGen, Disgenet, GenCC, Orphanet	—
PRIMARY CILIARY DYSKINESIA	244 C4551720 MONDO:0016575	ZMYND10	Causal	23891469 23891471	CTD, Disgenet, Orphanet	—
PRIMARY CILIARY DYSKINESIA 22	MONDO:0014192	ZMYND10	Causal	17413031 23715323 23891469 23891471 26139845 28823919 29916806	ClinGen, ClinVar, GWAS catalog	—
PRIMARY CILIARY DYSKINESIA 26	MONDO:0014211	CFAP298	Causal	—	ClinGen, ClinVar, GenCC	—
PRIMARY CILIARY DYSKINESIA 29	C4014534	CENPF	Causal	—	Disgenet	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Polo-like kinase mediated events Separation of Sister Chromatids +4 more
PRIMARY CILIARY DYSKINESIA 29	C4014534	GCDH	Causal	—	Disgenet	Fatty acid degradation Lysine degradation Tryptophan metabolism +2 more
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	—

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