Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia
0.310 GeneticVariation disease BEFREE Some individuals with hemizygous OFD1 variants have PCD, either apparently isolated or in combination with other features of OFD1-related disorders. 31373179 2019
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia
0.310 GermlineCausalMutation disease ORPHANET