Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3
0.900 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016

Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3
0.900 CausalMutation 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
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3
0.900 GeneticVariation 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
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3
0.900 CausalMutation CLINVAR Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273

2014

Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3
0.900 CausalMutation CLINVAR The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 24498942

2014

Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3
0.900 GeneticVariation CLINVAR Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p. 25066065

2014

Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3
0.900 CausalMutation CLINVAR Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. 23477994

2013

Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3
0.900 GeneticVariation CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469

2013

Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3
0.900 GeneticVariation CLINVAR Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302

2013

Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3
0.900 CausalMutation 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
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3
0.900 GeneticVariation 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
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3
0.900 CausalMutation 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
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3
0.900 CausalMutation CLINVAR Genetics, medicine, and the Plain people. 19630565

2009

Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3
0.900 GeneticVariation 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
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3
0.900 CausalMutation 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
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3
0.900 CausalMutation CLINVAR Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia. 15750039

2005

Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3
0.900 GeneticVariation CLINVAR Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus. 11912187

2002

Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C1837618
Disease: CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 3
0.900 CausalMutation CLINVAR Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. 11788826

2002

Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.310 CausalMutation 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
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.310 CausalMutation 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
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.310 CausalMutation 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
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.310 CausalMutation 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
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.310 GeneticVariation 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
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.310 CausalMutation CLINVAR Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. 26139845

2015

Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
0.310 CausalMutation CLINVAR Ciliary function and motor protein composition of human fallopian tubes. 26373788

2015