×
Entrez Id:
1767
Gene Symbol:
DNAH5
DNAH5
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
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
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
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
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
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
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
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
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
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
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
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
CILIARY DYSKINESIA, PRIMARY, 3
0.900
CausalMutation
CLINVAR
Genetics, medicine, and the Plain people.
19630565
2009
×
Entrez Id:
1767
Gene Symbol:
DNAH5
DNAH5
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
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
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
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
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
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
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
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
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
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
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
Ciliary Motility Disorders
0.310
CausalMutation
CLINVAR
Ciliary function and motor protein composition of human fallopian tubes.
26373788
2015