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: 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: 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: 55536
Gene Symbol: CDCA7L
CDCA7L 		cell division cycle associated 7 like 0.686 0.615 1.8E-04
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 0 4
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: 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: 83544
Gene Symbol: DNAL1
DNAL1 		dynein axonemal light chain 1 0.682 0.500 8.9E-03
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 1.000 1 2 2011 2011
Entrez Id: 345643
Gene Symbol: MCIDAS
MCIDAS 		multiciliate differentiation and DNA synthesis associated cell cycle protein 0.566 0.769 1.3E-02
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 0 1
Entrez Id: 54749
Gene Symbol: EPDR1
EPDR1 		ependymin related 1 0.769 0.308 1.8E-02
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 0 1
Entrez Id: 5575
Gene Symbol: PRKAR1B
PRKAR1B 		protein kinase cAMP-dependent type I regulatory subunit beta 0.716 0.385 0.18
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 0 2
Entrez Id: 8481
Gene Symbol: OFD1
OFD1 		OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 0 4
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 1.000 3 3 1997 2000