Disease: Ciliary Motility Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation group CLINVAR High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. 28790179 2018
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation group CLINVAR Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients. 27637300 2016
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation group CLINVAR A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder. 26123568 2015
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 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 		0.100 CausalMutation group CLINVAR Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia. 24357714 2013
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation group CLINVAR CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. 22581229 2012
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation group CLINVAR
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 Biomarker group HPO