Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 92749
Gene Symbol: DRC1
DRC1
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.700 GermlineCausalMutation ORPHANET The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. 23354437

2013
Entrez Id: 352909
Gene Symbol: DNAAF3
DNAAF3
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.600 GermlineCausalMutation ORPHANET Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. 22387996

2012
Entrez Id: 161582
Gene Symbol: DNAAF4
DNAAF4
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.500 GermlineCausalMutation ORPHANET DYX1C1 is required for axonemal dynein assembly and ciliary motility. 23872636

2013
Entrez Id: 25981
Gene Symbol: DNAH1
DNAH1
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 GermlineCausalMutation ORPHANET Variation in DNAH1 may contribute to primary ciliary dyskinesia. 25927852

2015
Entrez Id: 83861
Gene Symbol: RSPH3
RSPH3
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 GermlineCausalMutation ORPHANET RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. 26073779

2015
Entrez Id: 10309
Gene Symbol: CCNO
CCNO
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 GermlineCausalMutation ORPHANET Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. 24824133

2015
Entrez Id: 10309
Gene Symbol: CCNO
CCNO
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 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: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 GermlineCausalMutation ORPHANET CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. 25192045

2014
Entrez Id: 345643
Gene Symbol: MCIDAS
MCIDAS
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 GermlineCausalMutation ORPHANET MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia. 25048963

2014
Entrez Id: 93233
Gene Symbol: CCDC114
CCDC114
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 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: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 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: 56683
Gene Symbol: CFAP298
CFAP298
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 GermlineCausalMutation 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
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 GermlineCausalMutation ORPHANET Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. 23261303

2013
Entrez Id: 55130
Gene Symbol: ARMC4
ARMC4
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 GermlineCausalMutation ORPHANET ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. 23849778

2013
Entrez Id: 6674
Gene Symbol: SPAG1
SPAG1
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 GermlineCausalMutation ORPHANET Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. 24055112

2013
Entrez Id: 85478
Gene Symbol: CCDC65
CCDC65
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 GermlineCausalMutation ORPHANET Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. 24094744

2013
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 GermlineCausalMutation ORPHANET Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. 23993197

2013
Entrez Id: 51364
Gene Symbol: ZMYND10
ZMYND10
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 GermlineCausalMutation ORPHANET ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469

2013
Entrez Id: 23639
Gene Symbol: LRRC6
LRRC6
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 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: 388389
Gene Symbol: CCDC103
CCDC103
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 GermlineCausalMutation ORPHANET CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. 22581229

2012
Entrez Id: 54768
Gene Symbol: HYDIN
HYDIN
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 GermlineCausalMutation ORPHANET Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. 23022101

2012
Entrez Id: 200373
Gene Symbol: CFAP221
CFAP221
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		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: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		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: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		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: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		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