×
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: 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: 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: 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: 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: 6103
Gene Symbol: RPGR
RPGR
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
×
Entrez Id: 115399
Gene Symbol: LRRC56
LRRC56
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.
30388400 2018
×
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: 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: 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: 85016
Gene Symbol: CFAP300
CFAP300
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.
29727692 2018
×
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: 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: 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: 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: 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: 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: 246176
Gene Symbol: GAS2L2
GAS2L2
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification.
30649222 2019
×
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: 8481
Gene Symbol: OFD1
OFD1
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
×
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: 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
×
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: 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: 51364
Gene Symbol: ZMYND10
ZMYND10
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
23891469 2013