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: C2675228
Disease: CILIARY DYSKINESIA, PRIMARY, 12
CILIARY DYSKINESIA, PRIMARY, 12
disease 0.600 None 0 2
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: 221421
Gene Symbol: RSPH9
RSPH9
radial spoke head component 9 0.659 0.615 2.4E-09
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
disease 0.100 None 0 1