Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 GeneticVariation group CLINVAR DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. 16627867 2006
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 CausalMutation group CLINVAR DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. 16627867 2006
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 CausalMutation group CLINVAR Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. 11788826 2002
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 GeneticVariation group CLINVAR Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. 11788826 2002
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 CausalMutation group CLINVAR [Study of anti-ischemic action of carnitine chloride and its effects on the effectiveness of antianginal agents]. 2127064 1990
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 CausalMutation group CLINVAR Interhemispheric transfer of plasticity in the cerebral cortex. 2389146 1990
Entrez Id: 64446
Gene Symbol: DNAI2
DNAI2 		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
Entrez Id: 64446
Gene Symbol: DNAI2
DNAI2 		0.300 CausalMutation group CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469 2013
Entrez Id: 64446
Gene Symbol: DNAI2
DNAI2 		0.300 CausalMutation group CLINVAR Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302 2013
Entrez Id: 64446
Gene Symbol: DNAI2
DNAI2 		0.300 GeneticVariation group CLINVAR DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. 18950741 2008
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