×
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