Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2676235
Disease: CILIARY DYSKINESIA, PRIMARY, 9
CILIARY DYSKINESIA, PRIMARY, 9 		0.600 GeneticVariation disease CLINVAR Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. 25802884 2015
CUI: C2676235
Disease: CILIARY DYSKINESIA, PRIMARY, 9
CILIARY DYSKINESIA, PRIMARY, 9 		0.600 GeneticVariation disease CLINVAR Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302 2013
CUI: C2676235
Disease: CILIARY DYSKINESIA, PRIMARY, 9
CILIARY DYSKINESIA, PRIMARY, 9 		0.600 CausalMutation disease CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469 2013
CUI: C2676235
Disease: CILIARY DYSKINESIA, PRIMARY, 9
CILIARY DYSKINESIA, PRIMARY, 9 		0.600 CausalMutation disease CLINVAR Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302 2013
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.300 CausalMutation group CLINVAR Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. 25802884 2015
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.300 CausalMutation group CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469 2013
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.300 CausalMutation group CLINVAR Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302 2013
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.300 GeneticVariation group CLINVAR DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. 18950741 2008
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.100 CausalMutation disease CLINVAR