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 Biomarker disease MGD Ion Torrent sequencing for conducting genome-wide scans for mutation mapping analysis. 24306492 2014
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1 		0.900 GeneticVariation disease UNIPROT Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273 2014
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 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: 27019
Gene Symbol: DNAI1
DNAI1 		0.900 Biomarker disease CTD_human Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis. 19675306 2010
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1 		0.900 Biomarker disease GENOMICS_ENGLAND DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. 18950741 2008
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 UNIPROT Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). 11231901 2001
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1 		0.900 Biomarker disease GENOMICS_ENGLAND Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). 11231901 2001
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 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 92749
Gene Symbol: DRC1
DRC1 		0.700 Biomarker disease GENOMICS_ENGLAND 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 		0.700 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 		0.700 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: 92749
Gene Symbol: DRC1
DRC1 		0.700 CausalMutation disease CLINVAR
Entrez Id: 352909
Gene Symbol: DNAAF3
DNAAF3 		0.600 GermlineCausalMutation disease ORPHANET Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. 22387996 2012
Entrez Id: 352909
Gene Symbol: DNAAF3
DNAAF3 		0.600 Biomarker disease CTD_human Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. 22387996 2012
Entrez Id: 352909
Gene Symbol: DNAAF3
DNAAF3 		0.600 CausalMutation disease CLINVAR
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: 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: 25981
Gene Symbol: DNAH1
DNAH1 		0.400 GermlineCausalMutation disease ORPHANET Variation in DNAH1 may contribute to primary ciliary dyskinesia. 25927852 2015
Entrez Id: 83861
Gene Symbol: RSPH3
RSPH3 		0.400 GermlineCausalMutation disease 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 		0.400 GermlineCausalMutation disease ORPHANET Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. 24824133 2015
Entrez Id: 25981
Gene Symbol: DNAH1
DNAH1 		0.400 CausalMutation disease CLINVAR Variation in DNAH1 may contribute to primary ciliary dyskinesia. 25927852 2015