|
| Entrez Id: |
6103 |
| Gene Symbol: |
RPGR |
RPGR
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
| Entrez Id: |
8481 |
| Gene Symbol: |
OFD1 |
OFD1
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
| Entrez Id: |
79925 |
| Gene Symbol: |
SPEF2 |
SPEF2
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
SPEF2- and HYDIN-mutant Cilia Lack the Central Pair Associated Protein SPEF2 Aiding PCD Diagnostics.
|
31545650 |
2020 |
|
| Entrez Id: |
246176 |
| Gene Symbol: |
GAS2L2 |
GAS2L2
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification.
|
30649222 |
2019 |
|
| Entrez Id: |
55130 |
| Gene Symbol: |
ARMC4 |
ARMC4
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.
|
23849778 |
2013 |
|
| Entrez Id: |
115399 |
| Gene Symbol: |
LRRC56 |
LRRC56
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.
|
30388400 |
2018 |
|
| Entrez Id: |
85016 |
| Gene Symbol: |
CFAP300 |
CFAP300
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.
|
29727692 |
2018 |
|
| Entrez Id: |
388389 |
| Gene Symbol: |
CCDC103 |
CCDC103
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
|
22581229 |
2012 |
|
| Entrez Id: |
115948 |
| Gene Symbol: |
CCDC151 |
CCDC151
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
|
25192045 |
2014 |
|
| Entrez Id: |
27019 |
| Gene Symbol: |
DNAI1 |
DNAI1
|
0.500 |
Biomarker
|
disease |
CTD_human |
Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis.
|
19675306 |
2010 |
|
| Entrez Id: |
2302 |
| Gene Symbol: |
FOXJ1 |
FOXJ1
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.
|
31630787 |
2019 |
|
| Entrez Id: |
161582 |
| Gene Symbol: |
DNAAF4 |
DNAAF4
|
0.500 |
Biomarker
|
disease |
CTD_human |
DYX1C1 is required for axonemal dynein assembly and ciliary motility.
|
23872636 |
2013 |
|
| Entrez Id: |
161582 |
| Gene Symbol: |
DNAAF4 |
DNAAF4
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
DYX1C1 is required for axonemal dynein assembly and ciliary motility.
|
23872636 |
2013 |
|
| Entrez Id: |
93233 |
| Gene Symbol: |
CCDC114 |
CCDC114
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
|
23261302 |
2013 |
|
| Entrez Id: |
200373 |
| Gene Symbol: |
CFAP221 |
CFAP221
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia.
|
31636325 |
2020 |
|
| Entrez Id: |
27019 |
| Gene Symbol: |
DNAI1 |
DNAI1
|
0.500 |
Biomarker
|
disease |
MGD |
Ion Torrent sequencing for conducting genome-wide scans for mutation mapping analysis.
|
24306492 |
2014 |
|
| Entrez Id: |
2622 |
| Gene Symbol: |
GAS8 |
GAS8
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.
|
26387594 |
2015 |
|
| Entrez Id: |
23639 |
| Gene Symbol: |
LRRC6 |
LRRC6
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.
|
23122589 |
2012 |
|
| Entrez Id: |
89765 |
| Gene Symbol: |
RSPH1 |
RSPH1
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
|
23993197 |
2013 |
|
| Entrez Id: |
345643 |
| Gene Symbol: |
MCIDAS |
MCIDAS
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia.
|
25048963 |
2014 |
|
| Entrez Id: |
27148 |
| Gene Symbol: |
STK36 |
STK36
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect.
|
28543983 |
2017 |
|
| Entrez Id: |
352909 |
| Gene Symbol: |
DNAAF3 |
DNAAF3
|
0.500 |
Biomarker
|
disease |
CTD_human |
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
|
22387996 |
2012 |
|
| Entrez Id: |
352909 |
| Gene Symbol: |
DNAAF3 |
DNAAF3
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
|
22387996 |
2012 |
|
| Entrez Id: |
85016 |
| Gene Symbol: |
CFAP300 |
CFAP300
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.
|
29727693 |
2018 |
|
| Entrez Id: |
10309 |
| Gene Symbol: |
CCNO |
CCNO
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia.
|
24747639 |
2014 |