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: 352909
Gene Symbol: DNAAF3
DNAAF3 		dynein axonemal assembly factor 3 0.599 0.731 5.5E-08
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 1.000 1 9 2012 2012
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1 		radial spoke head component 1 0.666 0.500 2.1E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 1.000 4 9 2013 2015
Entrez Id: 85478
Gene Symbol: CCDC65
CCDC65 		coiled-coil domain containing 65 0.674 0.500 5.8E-11
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 1.000 3 1 2013 2015
Entrez Id: 93233
Gene Symbol: CCDC114
CCDC114 		coiled-coil domain containing 114 0.674 0.500 6.6E-09
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 1.000 2 6 2013 2013
Entrez Id: 51364
Gene Symbol: ZMYND10
ZMYND10 		zinc finger MYND-type containing 10 0.553 0.731 2.3E-07
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 1.000 2 4 2013 2013
Entrez Id: 56683
Gene Symbol: CFAP298
CFAP298 		cilia and flagella associated protein 298 0.678 0.500 1.1E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 1.000 1 3 2013 2013
Entrez Id: 55130
Gene Symbol: ARMC4
ARMC4 		armadillo repeat containing 4 0.641 0.615 1.9E-25
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 1.000 1 1 2013 2013
Entrez Id: 92749
Gene Symbol: DRC1
DRC1 		dynein regulatory complex subunit 1 0.641 0.654 8.3E-20
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 1.000 1 3 2013 2013
Entrez Id: 10309
Gene Symbol: CCNO
CCNO 		cyclin O 0.621 0.538 3.5E-03
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 1.000 4 7 2014 2016
Entrez Id: 1769
Gene Symbol: DNAH8
DNAH8 		dynein axonemal heavy chain 8 0.556 0.731 1.1E-60
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 1.000 1 18 2014 2014
Entrez Id: 100131047
Gene Symbol: DNAH8-AS1
DNAH8-AS1 		DNAH8 antisense RNA 1
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 1.000 1 6 2014 2014