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: 56683
Gene Symbol: CFAP298
CFAP298
cilia and flagella associated protein 298 0.678 0.500 1.1E-06
CUI: C3809684
Disease: CILIARY DYSKINESIA, PRIMARY, 26
CILIARY DYSKINESIA, PRIMARY, 26
disease 0.700 None 1.000 0 3 2013 2013
Entrez Id: 56683
Gene Symbol: CFAP298
CFAP298
cilia and flagella associated protein 298 0.678 0.500 1.1E-06
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
disease 0.400 None 1.000 0 3 2013 2013
Entrez Id: 56683
Gene Symbol: CFAP298
CFAP298
cilia and flagella associated protein 298 0.678 0.500 1.1E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
group 0.100 None 1.000 1 3 2013 2013