Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
0.300 GermlineCausalMutation disease ORPHANET C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia. 29727692 2018
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
0.300 GermlineCausalMutation disease ORPHANET 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