Disease: Joubert syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.400 GermlineCausalMutation disease ORPHANET Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 22425360 2012
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.400 GermlineCausalMutation disease ORPHANET Molecular characterization of Joubert syndrome in Saudi Arabia. 22693042 2012
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.400 GeneticVariation disease CLINVAR