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: 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
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: 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: 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: 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: 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: 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: 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: 161582
Gene Symbol: DNAAF4
DNAAF4 		dynein axonemal assembly factor 4 0.623 0.731 9.7E-10
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 0 6
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: 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