×
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
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
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
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
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
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
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
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 Motility Disorders
0.310
GeneticVariation
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
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 Motility Disorders
0.310
GeneticVariation
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
GeneticVariation
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 Motility Disorders
0.310
GeneticVariation
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
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
GeneticVariation
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
GeneticVariation
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
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 Motility Disorders
0.310
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 Motility Disorders
0.310
GeneticVariation
CLINVAR
Ciliary function and motor protein composition of human fallopian tubes.
26373788
2015
×
Entrez Id:
1767
Gene Symbol:
DNAH5
DNAH5
Multiple congenital anomalies
0.100
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
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.
11788826
2002
×
Entrez Id:
1767
Gene Symbol:
DNAH5
DNAH5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Lateralization defects and ciliary dyskinesia: lessons from algae.
12615011
2003
×
Entrez Id:
1767
Gene Symbol:
DNAH5
DNAH5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
23261302
2013
×
Entrez Id:
1767
Gene Symbol:
DNAH5
DNAH5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
24267886
2013
×
Entrez Id:
1767
Gene Symbol:
DNAH5
DNAH5
Multiple congenital anomalies
0.100
GeneticVariation
CLINVAR
Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.
19357118
2009