Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.300 GermlineCausalMutation disease ORPHANET
Entrez Id: 8481
Gene Symbol: OFD1
OFD1 		0.300 GermlineCausalMutation disease ORPHANET
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1 		0.500 Biomarker disease CTD_human Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis. 19675306 2010
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40 		0.300 Biomarker disease CTD_human The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. 21131974 2011
Entrez Id: 352909
Gene Symbol: DNAAF3
DNAAF3 		0.500 Biomarker disease CTD_human Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. 22387996 2012
Entrez Id: 352909
Gene Symbol: DNAAF3
DNAAF3 		0.500 GermlineCausalMutation disease ORPHANET Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. 22387996 2012
Entrez Id: 54919
Gene Symbol: DNAAF5
DNAAF5 		0.300 GermlineCausalMutation disease ORPHANET Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. 23040496 2012
Entrez Id: 54768
Gene Symbol: HYDIN
HYDIN 		0.300 GermlineCausalMutation disease ORPHANET Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. 23022101 2012
Entrez Id: 388389
Gene Symbol: CCDC103
CCDC103 		0.300 GermlineCausalMutation disease ORPHANET CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. 22581229 2012
Entrez Id: 23639
Gene Symbol: LRRC6
LRRC6 		0.300 GermlineCausalMutation disease 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: 92749
Gene Symbol: DRC1
DRC1 		0.500 GermlineCausalMutation disease 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 		0.500 Biomarker disease CTD_human DYX1C1 is required for axonemal dynein assembly and ciliary motility. 23872636 2013
Entrez Id: 161582
Gene Symbol: DNAAF4
DNAAF4 		0.500 GermlineCausalMutation disease ORPHANET DYX1C1 is required for axonemal dynein assembly and ciliary motility. 23872636 2013
Entrez Id: 92749
Gene Symbol: DRC1
DRC1 		0.500 Biomarker disease CTD_human The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. 23354437 2013
Entrez Id: 55130
Gene Symbol: ARMC4
ARMC4 		0.300 GermlineCausalMutation disease ORPHANET ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. 23849778 2013
Entrez Id: 93233
Gene Symbol: CCDC114
CCDC114 		0.300 GermlineCausalMutation disease ORPHANET Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302 2013
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1 		0.300 GermlineCausalMutation disease 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 		0.300 GermlineCausalMutation disease 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 		0.300 GermlineCausalMutation disease ORPHANET Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. 23261303 2013
Entrez Id: 56683
Gene Symbol: CFAP298
CFAP298 		0.300 GermlineCausalMutation disease ORPHANET Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. 24094744 2013
Entrez Id: 51364
Gene Symbol: ZMYND10
ZMYND10 		0.300 GermlineCausalMutation disease ORPHANET ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469 2013
Entrez Id: 51364
Gene Symbol: ZMYND10
ZMYND10 		0.300 GermlineCausalMutation disease 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: 6674
Gene Symbol: SPAG1
SPAG1 		0.300 GermlineCausalMutation disease ORPHANET Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. 24055112 2013
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1 		0.500 Biomarker disease MGD Ion Torrent sequencing for conducting genome-wide scans for mutation mapping analysis. 24306492 2014
Entrez Id: 345643
Gene Symbol: MCIDAS
MCIDAS 		0.300 GermlineCausalMutation disease ORPHANET MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia. 25048963 2014