Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome
0.310 GeneticVariation disease BEFREE Our findings indicate that DYNC2LI1 mutations are associated with a wider clinical spectrum than previously appreciated, including EvC, with the severity of the phenotype likely depending on the extent of defective DYNC2LI1 function. 28857138 2018
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome
0.310 GermlineCausalMutation disease ORPHANET DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects. 26130459 2015