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: 221421
Gene Symbol: RSPH9
RSPH9 		radial spoke head component 9 0.659 0.615 2.4E-09
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 1.000 4 4 2009 2014
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: 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: 345895
Gene Symbol: RSPH4A
RSPH4A 		radial spoke head component 4A 0.666 0.538 7.6E-11
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 1.000 5 15 2009 2015
Entrez Id: 100528020
Gene Symbol: FAM187A
FAM187A 		family with sequence similarity 187 member A 0.890 0.154 6.5E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 1.000 6 3 2012 2018
Entrez Id: 388389
Gene Symbol: CCDC103
CCDC103 		coiled-coil domain containing 103 0.666 0.538 5.1E-04
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 1.000 6 3 2012 2018
Entrez Id: 55036
Gene Symbol: CCDC40
CCDC40 		coiled-coil domain containing 40 0.656 0.538 3.8E-17
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 1.000 7 25 2011 2016
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11 		dynein axonemal heavy chain 11 0.587 0.692 2.5E-58
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 1.000 8 53 2008 2016
Entrez Id: 339829
Gene Symbol: CCDC39
CCDC39 		coiled-coil domain containing 39 0.641 0.615 7.9E-12
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 1.000 9 33 1990 2016
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1 		dynein axonemal intermediate chain 1 0.597 0.692 2.4E-08
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 1.000 10 17 1999 2018
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5 		dynein axonemal heavy chain 5 0.590 0.692 4.9E-64
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.310 None 1.000 21 122 1990 2016