Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 352909
Gene Symbol: DNAAF3
DNAAF3
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.730 GermlineCausalMutation ORPHANET Knockdown of dnaaf3 in zebrafish likewise disrupts dynein arm assembly and ciliary motility, causing primary ciliary dyskinesia phenotypes that include hydrocephalus and laterality malformations. 22387996

2012
Entrez Id: 92749
Gene Symbol: DRC1
DRC1
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.710 GermlineCausalMutation ORPHANET The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. 23354437

2013
Entrez Id: 115948
Gene Symbol: CCDC151
CCDC151
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.540 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: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.520 GermlineCausalMutation ORPHANET ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. 23849778

2013
Entrez Id: 2302
Gene Symbol: FOXJ1
FOXJ1
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.510 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: 161582
Gene Symbol: DNAAF4
DNAAF4
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.500 GermlineCausalMutation ORPHANET DYX1C1 is required for axonemal dynein assembly and ciliary motility. 23872636

2013
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.340 GermlineCausalMutation ORPHANET Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. 23993197

2013
Entrez Id: 1770
Gene Symbol: DNAH9
DNAH9
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.330 GermlineCausalMutation ORPHANET Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus. 30471717

2018
Entrez Id: 1770
Gene Symbol: DNAH9
DNAH9
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.330 GermlineCausalMutation ORPHANET Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. 30471718

2018
Entrez Id: 93233
Gene Symbol: CCDC114
CCDC114
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.330 GermlineCausalMutation ORPHANET Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. 23261303

2013
Entrez Id: 51364
Gene Symbol: ZMYND10
ZMYND10
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.330 GermlineCausalMutation ORPHANET ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469

2013
Entrez Id: 93233
Gene Symbol: CCDC114
CCDC114
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.330 GermlineCausalMutation ORPHANET Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302

2013
Entrez Id: 51364
Gene Symbol: ZMYND10
ZMYND10
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.330 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: 23639
Gene Symbol: LRRC6
LRRC6
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.330 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: 200373
Gene Symbol: CFAP221
CFAP221
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.320 GermlineCausalMutation ORPHANET Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia. 31636325

2020
Entrez Id: 85016
Gene Symbol: CFAP300
CFAP300
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.320 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
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.320 GermlineCausalMutation ORPHANET C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia. 29727692

2018
Entrez Id: 139212
Gene Symbol: PIH1D3
PIH1D3
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.320 GermlineCausalMutation ORPHANET Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. 28041644

2017
Entrez Id: 25981
Gene Symbol: DNAH1
DNAH1
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.320 GermlineCausalMutation ORPHANET Variation in DNAH1 may contribute to primary ciliary dyskinesia. 25927852

2015
Entrez Id: 85478
Gene Symbol: CCDC65
CCDC65
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.320 GermlineCausalMutation ORPHANET Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. 24094744

2013
Entrez Id: 388389
Gene Symbol: CCDC103
CCDC103
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.320 GermlineCausalMutation ORPHANET These results identify Ccdc103 as a dynein arm attachment factor that causes primary ciliary dyskinesia when mutated. 22581229

2012
Entrez Id: 79925
Gene Symbol: SPEF2
SPEF2
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.310 GermlineCausalMutation ORPHANET <i>SPEF2-</i> and <i>HYDIN</i>-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics. 31545650

2020
Entrez Id: 27148
Gene Symbol: STK36
STK36
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.310 GermlineCausalMutation ORPHANET Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect. 28543983

2017
Entrez Id: 83538
Gene Symbol: TTC25
TTC25
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.310 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: 83861
Gene Symbol: RSPH3
RSPH3
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.310 GermlineCausalMutation ORPHANET RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. 26073779

2015