Disease: CILIARY DYSKINESIA, PRIMARY, 38 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748052
Disease: CILIARY DYSKINESIA, PRIMARY, 38
CILIARY DYSKINESIA, PRIMARY, 38 		0.600 GeneticVariation disease UNIPROT Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms. 29727693 2018
CUI: C4748052
Disease: CILIARY DYSKINESIA, PRIMARY, 38
CILIARY DYSKINESIA, PRIMARY, 38 		0.600 GeneticVariation disease UNIPROT C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia. 29727692 2018
CUI: C4748052
Disease: CILIARY DYSKINESIA, PRIMARY, 38
CILIARY DYSKINESIA, PRIMARY, 38 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms. 29727693 2018
CUI: C4748052
Disease: CILIARY DYSKINESIA, PRIMARY, 38
CILIARY DYSKINESIA, PRIMARY, 38 		0.600 Biomarker disease GENOMICS_ENGLAND C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia. 29727692 2018
CUI: C4748052
Disease: CILIARY DYSKINESIA, PRIMARY, 38
CILIARY DYSKINESIA, PRIMARY, 38 		0.600 CausalMutation disease CLINVAR