Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
LDLR P01130 low density lipoprotein receptor 9.8E-24 0.449 0.885
COL3A1 P02461 collagen type III alpha 1 chain 1.00 0.477 0.808