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 CausalMutation group CLINVAR Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia. 27779714 2016
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 CausalMutation group CLINVAR Aminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia. 27618201 2016
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 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: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 CausalMutation group CLINVAR An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia. 26228299 2016
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 GeneticVariation group CLINVAR The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey. 24905662 2015
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 CausalMutation group CLINVAR Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. 26139845 2015
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 CausalMutation group CLINVAR Ciliary function and motor protein composition of human fallopian tubes. 26373788 2015
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 GeneticVariation group CLINVAR Ciliary function and motor protein composition of human fallopian tubes. 26373788 2015
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 GeneticVariation group CLINVAR Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273 2014
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 GeneticVariation group CLINVAR The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 24498942 2014
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 CausalMutation group CLINVAR Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273 2014
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 CausalMutation group CLINVAR A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family. 24150548 2014
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 CausalMutation group CLINVAR The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 24498942 2014
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 CausalMutation group CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469 2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 GeneticVariation group CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469 2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 CausalMutation group CLINVAR Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. 23477994 2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 CausalMutation group CLINVAR Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302 2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 GeneticVariation group CLINVAR Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. 23477994 2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 GeneticVariation group CLINVAR Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302 2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 CausalMutation group CLINVAR High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. 22499950 2012
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 CausalMutation group CLINVAR Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia. 22416021 2012
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 CausalMutation group CLINVAR Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. 21270641 2011
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 GeneticVariation group CLINVAR Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. 21270641 2011
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 GeneticVariation group CLINVAR Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. 19357118 2009
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		0.310 CausalMutation group CLINVAR Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. 19357118 2009