×
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
×
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
×
Entrez Id: 352909
Gene Symbol: DNAAF3
DNAAF3
Polynesian Bronchiectasis
0.500
GermlineCausalMutation
ORPHANET
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
22387996 2012
×
Entrez Id: 388389
Gene Symbol: CCDC103
CCDC103
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
22581229 2012
×
Entrez Id: 54768
Gene Symbol: HYDIN
HYDIN
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.
23022101 2012
×
Entrez Id: 54919
Gene Symbol: DNAAF5
DNAAF5
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.
23040496 2012
×
Entrez Id: 23639
Gene Symbol: LRRC6
LRRC6
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
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: 93233
Gene Symbol: CCDC114
CCDC114
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
23261302 2013
×
Entrez Id: 93233
Gene Symbol: CCDC114
CCDC114
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.
23261303 2013
×
Entrez Id: 92749
Gene Symbol: DRC1
DRC1
Polynesian Bronchiectasis
0.500
GermlineCausalMutation
ORPHANET
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.
23354437 2013
×
Entrez Id: 55130
Gene Symbol: ARMC4
ARMC4
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.
23849778 2013
×
Entrez Id: 161582
Gene Symbol: DNAAF4
DNAAF4
Polynesian Bronchiectasis
0.500
GermlineCausalMutation
ORPHANET
DYX1C1 is required for axonemal dynein assembly and ciliary motility.
23872636 2013
×
Entrez Id: 51364
Gene Symbol: ZMYND10
ZMYND10
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
23891469 2013
×
Entrez Id: 51364
Gene Symbol: ZMYND10
ZMYND10
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.
23891471 2013
×
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
23993197 2013
×
Entrez Id: 6674
Gene Symbol: SPAG1
SPAG1
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.
24055112 2013
×
Entrez Id: 85478
Gene Symbol: CCDC65
CCDC65
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.
24094744 2013
×
Entrez Id: 56683
Gene Symbol: CFAP298
CFAP298
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.
24094744 2013
×
Entrez Id: 10309
Gene Symbol: CCNO
CCNO
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia.
24747639 2014
×
Entrez Id: 10309
Gene Symbol: CCNO
CCNO
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.
24824133 2015
×
Entrez Id: 345643
Gene Symbol: MCIDAS
MCIDAS
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia.
25048963 2014
×
Entrez Id: 115948
Gene Symbol: CCDC151
CCDC151
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
25192045 2014
×
Entrez Id: 25981
Gene Symbol: DNAH1
DNAH1
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
Variation in DNAH1 may contribute to primary ciliary dyskinesia.
25927852 2015
×
Entrez Id: 83861
Gene Symbol: RSPH3
RSPH3
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.
26073779 2015
×
Entrez Id: 2622
Gene Symbol: GAS8
GAS8
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.
26387594 2015