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: 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: 100533483
Gene Symbol: DNAAF4-CCPG1
DNAAF4-CCPG1 		DNAAF4-CCPG1 readthrough (NMD candidate) 1.000
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		group 0.100 None 0 6
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: 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: 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: 56171
Gene Symbol: DNAH7
DNAH7 		dynein axonemal heavy chain 7 0.769 0.346 1.4E-71
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: 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: 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: 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