×
Entrez Id: 200373
Gene Symbol: CFAP221
CFAP221
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia.
31636325 2020
×
Entrez Id: 2302
Gene Symbol: FOXJ1
FOXJ1
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.
31630787 2019
×
Entrez Id: 79925
Gene Symbol: SPEF2
SPEF2
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
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
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification.
30649222 2019
×
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 25981
Gene Symbol: DNAH1
DNAH1
Polynesian Bronchiectasis
0.300
GermlineCausalMutation
ORPHANET
Variation in DNAH1 may contribute to primary ciliary dyskinesia.
25927852 2015
×
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: 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: 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: 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: 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: 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: 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: 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