×
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: 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: 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: 25981
Gene Symbol: DNAH1
DNAH1
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
Variation in DNAH1 may contribute to primary ciliary dyskinesia.
25927852 2015
×
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: 83538
Gene Symbol: TTC25
TTC25
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.
27486780 2016
×
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: 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: 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: 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: 1770
Gene Symbol: DNAH9
DNAH9
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.
30471718 2018
×
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: 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: 139212
Gene Symbol: PIH1D3
PIH1D3
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.
28041644 2017
×
Entrez Id: 1770
Gene Symbol: DNAH9
DNAH9
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
30471717 2018
×
Entrez Id: 374407
Gene Symbol: DNAJB13
DNAJB13
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
27486783 2016
×
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: 85016
Gene Symbol: CFAP300
CFAP300
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
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: 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: 27148
Gene Symbol: STK36
STK36
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect.
28543983 2017
×
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: 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: 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: 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