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
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
TRIM8 Q9BZR9 tripartite motif containing 8 0.99 0.588 0.731
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
FBN2 P35556 fibrillin 2 Calcium-binding protein 1.00 0.505 0.808
WFS1 O76024 wolframin ER transmembrane glycoprotein 1.6E-38 0.528 0.846
CHN1 P15882 chimerin 1 3.1E-02 0.573 0.615
STRN4 Q9NRL3 striatin 4 0.99 0.792 0.346
TGFBR1 P36897 transforming growth factor beta receptor 1 Kinase 0.85 0.451 0.885