PDE6D, phosphodiesterase 6D, 5147

N. diseases: 79; N. variants: 3
Disease: OROFACIODIGITAL SYNDROME VI ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		0.300 GermlineCausalMutation disease ORPHANET A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. 24166846 2014