Disease: JOUBERT SYNDROME 17 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.800 Biomarker disease MGD Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies. 25877302 2015
CUI: C3553264
Disease: JOUBERT SYNDROME 17
JOUBERT SYNDROME 17 		0.800 CausalMutation disease CLINVAR Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? 25407461 2015