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
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
GJB1 P08034 gap junction protein beta 1 Cell-cell junction 0.85 0.514 0.731
TTPA P49638 alpha tocopherol transfer protein Transporter 1.4E-03 0.612 0.577