Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 374407
Gene Symbol: DNAJB13
DNAJB13 		0.300 GermlineCausalMutation disease ORPHANET Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility. 27486783 2016
Entrez Id: 1770
Gene Symbol: DNAH9
DNAH9 		0.300 GermlineCausalMutation disease ORPHANET Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus. 30471717 2018
Entrez Id: 139212
Gene Symbol: PIH1D3
PIH1D3 		0.300 GermlineCausalMutation disease 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 		0.300 GermlineCausalMutation disease ORPHANET Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. 24055112 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: 1770
Gene Symbol: DNAH9
DNAH9 		0.300 GermlineCausalMutation disease ORPHANET Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. 30471718 2018
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: 83861
Gene Symbol: RSPH3
RSPH3 		0.300 GermlineCausalMutation disease ORPHANET RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. 26073779 2015
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: 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: 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: 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: 83538
Gene Symbol: TTC25
TTC25 		0.300 GermlineCausalMutation disease 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: 10309
Gene Symbol: CCNO
CCNO 		0.300 GermlineCausalMutation disease ORPHANET Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. 24824133 2015
Entrez Id: 25981
Gene Symbol: DNAH1
DNAH1 		0.300 GermlineCausalMutation disease ORPHANET Variation in DNAH1 may contribute to primary ciliary dyskinesia. 25927852 2015
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: 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: 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