Disease: Primary Ciliary Dyskinesia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.530 AlteredExpression disease BEFREE Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction. 31273583 2019
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.530 GeneticVariation disease BEFREE Exome sequencing identified a homozygous missense variant in CCDC103 (c.461A > C; p.His154Pro) as the most likely cause of the PCD and laterality defects in this family. 26123568 2015
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.530 GermlineCausalMutation disease ORPHANET These results identify Ccdc103 as a dynein arm attachment factor that causes primary ciliary dyskinesia when mutated. 22581229 2012
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.530 Biomarker disease GENOMICS_ENGLAND These results identify Ccdc103 as a dynein arm attachment factor that causes primary ciliary dyskinesia when mutated. 22581229 2012
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.530 Biomarker disease BEFREE These results identify Ccdc103 as a dynein arm attachment factor that causes primary ciliary dyskinesia when mutated. 22581229 2012