Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 92749
Gene Symbol: DRC1
DRC1
CUI: C4317124
Disease: Polynesian Bronchiectasis
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
CUI: C4317124
Disease: Polynesian Bronchiectasis
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
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis
0.500 GermlineCausalMutation ORPHANET Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. 22387996

2012

Entrez Id: 200373
Gene Symbol: CFAP221
CFAP221
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis
0.300 GermlineCausalMutation ORPHANET Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia. 31636325

2020

Entrez Id: 79925
Gene Symbol: SPEF2
SPEF2
CUI: C4317124
Disease: Polynesian Bronchiectasis
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
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis
0.300 GermlineCausalMutation ORPHANET A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification. 30649222

2019

Entrez Id: 2302
Gene Symbol: FOXJ1
FOXJ1
CUI: C4317124
Disease: Polynesian Bronchiectasis
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: 85016
Gene Symbol: CFAP300
CFAP300
CUI: C4317124
Disease: Polynesian Bronchiectasis
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: 115399
Gene Symbol: LRRC56
LRRC56
CUI: C4317124
Disease: Polynesian Bronchiectasis
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
CUI: C4317124
Disease: Polynesian Bronchiectasis
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: 85016
Gene Symbol: CFAP300
CFAP300
CUI: C4317124
Disease: Polynesian Bronchiectasis
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: 1770
Gene Symbol: DNAH9
DNAH9
CUI: C4317124
Disease: Polynesian Bronchiectasis
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: 27148
Gene Symbol: STK36
STK36
CUI: C4317124
Disease: Polynesian Bronchiectasis
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
CUI: C4317124
Disease: Polynesian Bronchiectasis
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: 83538
Gene Symbol: TTC25
TTC25
CUI: C4317124
Disease: Polynesian Bronchiectasis
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: 374407
Gene Symbol: DNAJB13
DNAJB13
CUI: C4317124
Disease: Polynesian Bronchiectasis
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: 83861
Gene Symbol: RSPH3
RSPH3
CUI: C4317124
Disease: Polynesian Bronchiectasis
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
CUI: C4317124
Disease: Polynesian Bronchiectasis
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: 10309
Gene Symbol: CCNO
CCNO
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis
0.300 GermlineCausalMutation ORPHANET Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. 24824133

2015

Entrez Id: 25981
Gene Symbol: DNAH1
DNAH1
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis
0.300 GermlineCausalMutation ORPHANET Variation in DNAH1 may contribute to primary ciliary dyskinesia. 25927852

2015

Entrez Id: 345643
Gene Symbol: MCIDAS
MCIDAS
CUI: C4317124
Disease: Polynesian Bronchiectasis
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
CUI: C4317124
Disease: Polynesian Bronchiectasis
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: 115948
Gene Symbol: CCDC151
CCDC151
CUI: C4317124
Disease: Polynesian Bronchiectasis
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: 55130
Gene Symbol: ARMC4
ARMC4
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis
0.300 GermlineCausalMutation ORPHANET ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. 23849778

2013

Entrez Id: 93233
Gene Symbol: CCDC114
CCDC114
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis
0.300 GermlineCausalMutation ORPHANET Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302

2013