CILIARY DYSKINESIA, PRIMARY, 17
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.
|
28790179 |
2018 |
CILIARY DYSKINESIA, PRIMARY, 17
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.
|
28790179 |
2018 |
CILIARY DYSKINESIA, PRIMARY, 17
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.
|
27637300 |
2016 |
CILIARY DYSKINESIA, PRIMARY, 17
|
0.700 |
CausalMutation
|
disease |
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 |
CILIARY DYSKINESIA, PRIMARY, 17
|
0.700 |
GeneticVariation
|
disease |
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 |
CILIARY DYSKINESIA, PRIMARY, 17
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.
|
25186273 |
2014 |
CILIARY DYSKINESIA, PRIMARY, 17
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia.
|
24357714 |
2013 |
CILIARY DYSKINESIA, PRIMARY, 17
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia.
|
24357714 |
2013 |
CILIARY DYSKINESIA, PRIMARY, 17
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
|
22581229 |
2012 |
CILIARY DYSKINESIA, PRIMARY, 17
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
|
22581229 |
2012 |
CILIARY DYSKINESIA, PRIMARY, 17
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
|
22581229 |
2012 |
CILIARY DYSKINESIA, PRIMARY, 17
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
CILIARY DYSKINESIA, PRIMARY, 17
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
CILIARY DYSKINESIA, PRIMARY, 17
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
CILIARY DYSKINESIA, PRIMARY, 17
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Primary Ciliary Dyskinesia
|
0.530 |
AlteredExpression
|
disease |
BEFREE |
Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction.
|
31273583 |
2019 |
Primary Ciliary Dyskinesia
|
0.530 |
GeneticVariation
|
disease |
BEFREE |
Exome sequencing identified a homozygous missense variant in CCDC103 (c.461A > C; p.His154Pro) as the most likely cause of the PCD and laterality defects in this family.
|
26123568 |
2015 |
Primary Ciliary Dyskinesia
|
0.530 |
GermlineCausalMutation
|
disease |
ORPHANET |
These results identify Ccdc103 as a dynein arm attachment factor that causes primary ciliary dyskinesia when mutated.
|
22581229 |
2012 |
Primary Ciliary Dyskinesia
|
0.530 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
These results identify Ccdc103 as a dynein arm attachment factor that causes primary ciliary dyskinesia when mutated.
|
22581229 |
2012 |
Primary Ciliary Dyskinesia
|
0.530 |
Biomarker
|
disease |
BEFREE |
These results identify Ccdc103 as a dynein arm attachment factor that causes primary ciliary dyskinesia when mutated.
|
22581229 |
2012 |
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
|
22581229 |
2012 |
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Kartagener Syndrome
|
0.320 |
AlteredExpression
|
disease |
BEFREE |
Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction.
|
31273583 |
2019 |
Kartagener Syndrome
|
0.320 |
Biomarker
|
disease |
BEFREE |
These results identify Ccdc103 as a dynein arm attachment factor that causes primary ciliary dyskinesia when mutated.
|
22581229 |
2012 |
Kartagener Syndrome
|
0.320 |
GermlineCausalMutation
|
disease |
ORPHANET |
These results identify Ccdc103 as a dynein arm attachment factor that causes primary ciliary dyskinesia when mutated.
|
22581229 |
2012 |