×
Entrez Id: 55130
Gene Symbol: ARMC4
ARMC4
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.
23849778 2013
×
Entrez Id: 388389
Gene Symbol: CCDC103
CCDC103
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
23891469 2013
×
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: 388389
Gene Symbol: CCDC103
CCDC103
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
22581229 2012
×
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: 388389
Gene Symbol: CCDC103
CCDC103
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 388389
Gene Symbol: CCDC103
CCDC103
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia.
24357714 2013
×
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: 93233
Gene Symbol: CCDC114
CCDC114
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 93233
Gene Symbol: CCDC114
CCDC114
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
23261302 2013
×
Entrez Id: 93233
Gene Symbol: CCDC114
CCDC114
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.
23261303 2013
×
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: 339829
Gene Symbol: CCDC39
CCDC39
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
21131972 2011
×
Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
Multinuclear NMR investigations of probe construction materials at 4.7 T.
2325550 1990
×
Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
23891469 2013
×
Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
Umbilical bile staining in a patient with gall-bladder perforation.
22693295 2011
×
Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia.
24498942 2014
×
Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
23255504 2013
×
Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39
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
×
Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.
25186273 2014
×
Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39
Ciliary Motility Disorders
0.100
GeneticVariation
CLINVAR
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
21131972 2011
×
Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.
22693285 2012
×
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
×
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.
22693285 2012
×
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40
Ciliary Motility Disorders
0.100
CausalMutation
CLINVAR
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.
21131974 2011