Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1 		dynein axonemal intermediate chain 1 0.597 0.692 2.4E-08
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.900 None 1.000 4 9 1999 2014
Entrez Id: 92749
Gene Symbol: DRC1
DRC1 		dynein regulatory complex subunit 1 0.641 0.654 8.3E-20
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.700 moderate 1.000 0 2 2013 2013
Entrez Id: 352909
Gene Symbol: DNAAF3
DNAAF3 		dynein axonemal assembly factor 3 0.599 0.731 5.5E-08
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.600 None 1.000 0 3 2012 2012
Entrez Id: 93233
Gene Symbol: CCDC114
CCDC114 		coiled-coil domain containing 114 0.674 0.500 6.6E-09
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.400 None 1.000 2 1 2013 2013
Entrez Id: 23639
Gene Symbol: LRRC6
LRRC6 		leucine rich repeat containing 6 0.659 0.538 1.0E-10
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.400 None 1.000 2 1 2012 2014
Entrez Id: 115948
Gene Symbol: CCDC151
CCDC151 		coiled-coil domain containing 151 0.659 0.577 3.5E-15
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.400 None 1.000 2 2 2014 2014
Entrez Id: 51364
Gene Symbol: ZMYND10
ZMYND10 		zinc finger MYND-type containing 10 0.553 0.731 2.3E-07
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.400 None 1.000 1 2 2013 2013
Entrez Id: 6674
Gene Symbol: SPAG1
SPAG1 		sperm associated antigen 1 0.663 0.577 1.4E-09
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.400 None 1.000 1 2 2013 2013
Entrez Id: 25981
Gene Symbol: DNAH1
DNAH1 		dynein axonemal heavy chain 1 0.656 0.615 1.5E-26
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.400 None 1.000 1 1 2015 2015
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1 		radial spoke head component 1 0.666 0.500 2.1E-06
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.400 None 1.000 1 6 2013 2014
Entrez Id: 55130
Gene Symbol: ARMC4
ARMC4 		armadillo repeat containing 4 0.641 0.615 1.9E-25
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.400 None 1.000 1 2 2013 2013
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40 		coiled-coil domain containing 40 0.656 0.538 3.8E-17
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.400 None 1.000 0 2 2011 2011
Entrez Id: 56683
Gene Symbol: CFAP298
CFAP298 		cilia and flagella associated protein 298 0.678 0.500 1.1E-06
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.400 None 1.000 0 3 2013 2013
Entrez Id: 85478
Gene Symbol: CCDC65
CCDC65 		coiled-coil domain containing 65 0.674 0.500 5.8E-11
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.400 None 1.000 0 1 2013 2013
Entrez Id: 83861
Gene Symbol: RSPH3
RSPH3 		radial spoke head 3 0.682 0.500 9.9E-08
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.400 None 1.000 0 1 2015 2015
Entrez Id: 54768
Gene Symbol: HYDIN
HYDIN 		HYDIN axonemal central pair apparatus protein 0.641 0.538 2.3E-24
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.400 None 1.000 0 2 2012 2012
Entrez Id: 388389
Gene Symbol: CCDC103
CCDC103 		coiled-coil domain containing 103 0.666 0.538 5.1E-04
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.400 None 1.000 0 2 2012 2012
Entrez Id: 345643
Gene Symbol: MCIDAS
MCIDAS 		multiciliate differentiation and DNA synthesis associated cell cycle protein 0.566 0.769 1.3E-02
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.400 None 1.000 0 3 2014 2014
Entrez Id: 10309
Gene Symbol: CCNO
CCNO 		cyclin O 0.621 0.538 3.5E-03
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.400 None 1.000 0 7 2014 2015
Entrez Id: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.100 None 1.000 2 2 2013 2015
Entrez Id: 123872
Gene Symbol: DNAAF1
DNAAF1 		dynein axonemal assembly factor 1 0.633 0.654 8.5E-12
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.100 None 1.000 2 2 2009 2009
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		dynein axonemal heavy chain 5 0.590 0.692 4.9E-64
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.100 None 1.000 1 3 2013 2013
Entrez Id: 83544
Gene Symbol: DNAL1
DNAL1 		dynein axonemal light chain 1 0.682 0.500 8.9E-03
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.100 None 1.000 1 1 2011 2011
Entrez Id: 1769
Gene Symbol: DNAH8
DNAH8 		dynein axonemal heavy chain 8 0.556 0.731 1.1E-60
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.100 None 0 1
Entrez Id: 221421
Gene Symbol: RSPH9
RSPH9 		radial spoke head component 9 0.659 0.615 2.4E-09
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		disease 0.100 None 0 1