Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1
0.300 GermlineCausalMutation disease ORPHANET Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. 24886560 2014