Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1 		0.900 CausalMutation disease CLINVAR Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. 10577904 1999
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1 		0.900 CausalMutation disease CLINVAR Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. 23477994 2013
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1 		0.900 CausalMutation disease CLINVAR Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. 16858015 2006
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1 		0.900 GeneticVariation disease CLINVAR Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. 16858015 2006
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1 		0.900 GeneticVariation disease CLINVAR Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. 21270641 2011
Entrez Id: 92749
Gene Symbol: DRC1
DRC1 		0.700 CausalMutation disease CLINVAR
Entrez Id: 352909
Gene Symbol: DNAAF3
DNAAF3 		0.600 CausalMutation disease CLINVAR
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1 		0.400 CausalMutation disease CLINVAR Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. 24568568 2014
Entrez Id: 23639
Gene Symbol: LRRC6
LRRC6 		0.400 CausalMutation disease CLINVAR Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. 24307375 2014
Entrez Id: 56683
Gene Symbol: CFAP298
CFAP298 		0.400 CausalMutation disease CLINVAR
Entrez Id: 83861
Gene Symbol: RSPH3
RSPH3 		0.400 CausalMutation disease CLINVAR
Entrez Id: 10309
Gene Symbol: CCNO
CCNO 		0.400 CausalMutation disease CLINVAR
Entrez Id: 23639
Gene Symbol: LRRC6
LRRC6 		0.400 CausalMutation disease CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469 2013
Entrez Id: 54768
Gene Symbol: HYDIN
HYDIN 		0.400 CausalMutation disease CLINVAR
Entrez Id: 25981
Gene Symbol: DNAH1
DNAH1 		0.400 CausalMutation disease CLINVAR Variation in DNAH1 may contribute to primary ciliary dyskinesia. 25927852 2015
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40 		0.400 GeneticVariation disease CLINVAR
Entrez Id: 55130
Gene Symbol: ARMC4
ARMC4 		0.400 CausalMutation disease CLINVAR ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. 23849778 2013
Entrez Id: 51364
Gene Symbol: ZMYND10
ZMYND10 		0.400 CausalMutation disease CLINVAR 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: 345643
Gene Symbol: MCIDAS
MCIDAS 		0.400 CausalMutation disease CLINVAR
Entrez Id: 6674
Gene Symbol: SPAG1
SPAG1 		0.400 CausalMutation disease CLINVAR Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. 24055112 2013
Entrez Id: 115948
Gene Symbol: CCDC151
CCDC151 		0.400 CausalMutation disease CLINVAR Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia. 25224326 2014
Entrez Id: 93233
Gene Symbol: CCDC114
CCDC114 		0.400 CausalMutation disease CLINVAR Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. 23261303 2013
Entrez Id: 115948
Gene Symbol: CCDC151
CCDC151 		0.400 CausalMutation disease CLINVAR CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. 25192045 2014
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40 		0.400 CausalMutation disease CLINVAR
Entrez Id: 85478
Gene Symbol: CCDC65
CCDC65 		0.400 CausalMutation disease CLINVAR