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: 23639
Gene Symbol: LRRC6
LRRC6 		leucine rich repeat containing 6 0.659 0.538 1.0E-10
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 0 5
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: 51314
Gene Symbol: NME8
NME8 		NME/NM23 family member 8 0.644 0.692 5.6E-28
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 0 1
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: 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: 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: 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: 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: 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
Entrez Id: 151613
Gene Symbol: TTC14
TTC14 		tetratricopeptide repeat domain 14 1.2E-09
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 1.000 3 4 2011 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