×
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
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
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
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
[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
Interhemispheric transfer of plasticity in the cerebral cortex.
2389146
1990
×
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:
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
GeneticVariation
CLINVAR
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.
18950741
2008
×
Entrez Id:
27019
Gene Symbol:
DNAI1
DNAI1
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients.
29363216
2018
×
Entrez Id:
100528020
Gene Symbol:
FAM187A
FAM187A
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.
28790179
2018
×
Entrez Id:
388389
Gene Symbol:
CCDC103
CCDC103
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.
28790179
2018
×
Entrez Id:
339829
Gene Symbol:
CCDC39
CCDC39
Ciliary Motility Disorders
0.100
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:
8701
Gene Symbol:
DNAH11
DNAH11
Ciliary Motility Disorders
0.100
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:
10309
Gene Symbol:
CCNO
CCNO
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.
26777464
2016
×
Entrez Id:
100528020
Gene Symbol:
FAM187A
FAM187A
Ciliary Motility Disorders
0.100
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:
27019
Gene Symbol:
DNAI1
DNAI1
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia.
26918822
2016
×
Entrez Id:
55036
Gene Symbol:
CCDC40
CCDC40
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature.
25619595
2016
×
Entrez Id:
388389
Gene Symbol:
CCDC103
CCDC103
Ciliary Motility Disorders
0.100
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:
100528020
Gene Symbol:
FAM187A
FAM187A
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.
26123568
2015
×
Entrez Id:
345895
Gene Symbol:
RSPH4A
RSPH4A
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.
25789548
2015
×
Entrez Id:
388389
Gene Symbol:
CCDC103
CCDC103
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.
26123568
2015
×
Entrez Id:
10309
Gene Symbol:
CCNO
CCNO
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.
26139845
2015
×
Entrez Id:
8701
Gene Symbol:
DNAH11
DNAH11
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.
25802884
2015