Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.300 Biomarker group CTD_human INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. 19668215 2009
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.300 Biomarker group CTD_human Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 19668216 2009