Disease: CILIARY DYSKINESIA, PRIMARY, 17 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3542550
Disease: CILIARY DYSKINESIA, PRIMARY, 17
CILIARY DYSKINESIA, PRIMARY, 17 		0.700 Biomarker disease GENOMICS_ENGLAND High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. 28790179 2018
CUI: C3542550
Disease: CILIARY DYSKINESIA, PRIMARY, 17
CILIARY DYSKINESIA, PRIMARY, 17 		0.700 GeneticVariation disease 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: C3542550
Disease: CILIARY DYSKINESIA, PRIMARY, 17
CILIARY DYSKINESIA, PRIMARY, 17 		0.700 CausalMutation disease CLINVAR Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients. 27637300 2016
CUI: C3542550
Disease: CILIARY DYSKINESIA, PRIMARY, 17
CILIARY DYSKINESIA, PRIMARY, 17 		0.700 CausalMutation disease 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: C3542550
Disease: CILIARY DYSKINESIA, PRIMARY, 17
CILIARY DYSKINESIA, PRIMARY, 17 		0.700 GeneticVariation disease 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: C3542550
Disease: CILIARY DYSKINESIA, PRIMARY, 17
CILIARY DYSKINESIA, PRIMARY, 17 		0.700 GeneticVariation disease UNIPROT Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273 2014
CUI: C3542550
Disease: CILIARY DYSKINESIA, PRIMARY, 17
CILIARY DYSKINESIA, PRIMARY, 17 		0.700 GeneticVariation disease CLINVAR Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia. 24357714 2013
CUI: C3542550
Disease: CILIARY DYSKINESIA, PRIMARY, 17
CILIARY DYSKINESIA, PRIMARY, 17 		0.700 CausalMutation disease CLINVAR Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia. 24357714 2013
CUI: C3542550
Disease: CILIARY DYSKINESIA, PRIMARY, 17
CILIARY DYSKINESIA, PRIMARY, 17 		0.700 GeneticVariation disease CLINVAR CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. 22581229 2012
CUI: C3542550
Disease: CILIARY DYSKINESIA, PRIMARY, 17
CILIARY DYSKINESIA, PRIMARY, 17 		0.700 GeneticVariation disease UNIPROT CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. 22581229 2012
CUI: C3542550
Disease: CILIARY DYSKINESIA, PRIMARY, 17
CILIARY DYSKINESIA, PRIMARY, 17 		0.700 CausalMutation disease CLINVAR CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. 22581229 2012
CUI: C3542550
Disease: CILIARY DYSKINESIA, PRIMARY, 17
CILIARY DYSKINESIA, PRIMARY, 17 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3542550
Disease: CILIARY DYSKINESIA, PRIMARY, 17
CILIARY DYSKINESIA, PRIMARY, 17 		0.700 Biomarker disease CTD_human
CUI: C3542550
Disease: CILIARY DYSKINESIA, PRIMARY, 17
CILIARY DYSKINESIA, PRIMARY, 17 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3542550
Disease: CILIARY DYSKINESIA, PRIMARY, 17
CILIARY DYSKINESIA, PRIMARY, 17 		0.700 Biomarker disease GENOMICS_ENGLAND