Disease: COACH syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.300 GermlineCausalMutation disease ORPHANET Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 19668216 2009