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: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0265004
Disease: Dilatation of aorta
Dilatation of aorta 		phenotype 0.200 None 0.909 0 1 2008 2018
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0265004
Disease: Dilatation of aorta
Dilatation of aorta 		phenotype 0.100 None 0 1