Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1 		0.100 CausalMutation group CLINVAR Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients. 29363216 2018
Entrez Id: 100528020
Gene Symbol: FAM187A
FAM187A 		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
Entrez Id: 388389
Gene Symbol: CCDC103
CCDC103 		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
Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39 		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
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11 		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
Entrez Id: 10309
Gene Symbol: CCNO
CCNO 		0.100 CausalMutation group CLINVAR Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis. 26777464 2016
Entrez Id: 100528020
Gene Symbol: FAM187A
FAM187A 		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
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1 		0.100 CausalMutation group CLINVAR DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia. 26918822 2016
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40 		0.100 CausalMutation group CLINVAR CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature. 25619595 2016
Entrez Id: 388389
Gene Symbol: CCDC103
CCDC103 		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
Entrez Id: 100528020
Gene Symbol: FAM187A
FAM187A 		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
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		0.100 CausalMutation group CLINVAR Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects. 25789548 2015
Entrez Id: 388389
Gene Symbol: CCDC103
CCDC103 		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
Entrez Id: 10309
Gene Symbol: CCNO
CCNO 		0.100 CausalMutation group CLINVAR Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. 26139845 2015
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11 		0.100 CausalMutation group CLINVAR Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. 25802884 2015
Entrez Id: 85478
Gene Symbol: CCDC65
CCDC65 		0.100 GeneticVariation group CLINVAR Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. 25802884 2015
Entrez Id: 10309
Gene Symbol: CCNO
CCNO 		0.100 CausalMutation group CLINVAR Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. 24824133 2015
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11 		0.100 CausalMutation group CLINVAR Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. 26139845 2015
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1 		0.100 CausalMutation group CLINVAR Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. 26139845 2015
Entrez Id: 221421
Gene Symbol: RSPH9
RSPH9 		0.100 CausalMutation group CLINVAR Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. 24307375 2014
Entrez Id: 1769
Gene Symbol: DNAH8
DNAH8 		0.100 GeneticVariation group CLINVAR Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. 24307375 2014
Entrez Id: 54919
Gene Symbol: DNAAF5
DNAAF5 		0.100 GeneticVariation group CLINVAR HEATR2 plays a conserved role in assembly of the ciliary motile apparatus. 25232951 2014
Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39 		0.100 CausalMutation group CLINVAR The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 24498942 2014
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11 		0.100 CausalMutation group CLINVAR Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure. 24450482 2014
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1 		0.100 CausalMutation group CLINVAR Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. 24518672 2014