Disease: Primary Ciliary Dyskinesia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.300 Biomarker disease CTD_human Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 19668216 2009
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.300 Biomarker disease CTD_human INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. 19668215 2009