×
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
Ciliary Motility Disorders
0.310
CausalMutation
CLINVAR
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
23891469 2013
×
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
High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.
22499950 2012
×
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
Ciliary Motility Disorders
0.310
CausalMutation
CLINVAR
Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.
23477994 2013
×
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
Ciliary Motility Disorders
0.310
CausalMutation
CLINVAR
Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.
25186273 2014
×
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
Ciliary Motility Disorders
0.310
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 Motility Disorders
0.310
CausalMutation
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
Ciliary Motility Disorders
0.310
CausalMutation
CLINVAR
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
23261302 2013
×
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
Ciliary Motility Disorders
0.310
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
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
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
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
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 Motility Disorders
0.310
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 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
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
×
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
Ciliary Motility Disorders
0.310
CausalMutation
CLINVAR
Interhemispheric transfer of plasticity in the cerebral cortex.
2389146 1990
×
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
Ciliary Motility Disorders
0.310
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 Motility Disorders
0.310
CausalMutation
CLINVAR
Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.
19357118 2009
×
Entrez Id: 64446
Gene Symbol: DNAI2
DNAI2
Ciliary Motility Disorders
0.300
CausalMutation
CLINVAR
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
23891469 2013
×
Entrez Id: 64446
Gene Symbol: DNAI2
DNAI2
Ciliary Motility Disorders
0.300
CausalMutation
CLINVAR
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
23261302 2013
×
Entrez Id: 64446
Gene Symbol: DNAI2
DNAI2
Ciliary Motility Disorders
0.300
CausalMutation
CLINVAR
Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.
25802884 2015
×
Entrez Id: 100528020
Gene Symbol: FAM187A
FAM187A
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
23891469 2013
×
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
23255504 2013