Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 51364
Gene Symbol: ZMYND10
ZMYND10
CUI: C4317124
Disease: Polynesian Bronchiectasis
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: 54768
Gene Symbol: HYDIN
HYDIN
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis 		0.300 GermlineCausalMutation ORPHANET Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. 23022101

2012
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: 388389
Gene Symbol: CCDC103
CCDC103
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis 		0.300 GermlineCausalMutation ORPHANET CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. 22581229

2012
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: 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: 23639
Gene Symbol: LRRC6
LRRC6
CUI: C4317124
Disease: Polynesian Bronchiectasis
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: 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: 6674
Gene Symbol: SPAG1
SPAG1
CUI: C4317124
Disease: Polynesian Bronchiectasis
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: 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: 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: 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