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
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
COL5A1 P20908 collagen type V alpha 1 chain 1.00 0.536 0.769
TGFBR2 P37173 transforming growth factor beta receptor 2 Kinase 0.13 0.413 0.846
COL3A1 P02461 collagen type III alpha 1 chain 1.00 0.477 0.808
FARSB Q9NSD9 phenylalanyl-tRNA synthetase subunit beta Enzyme 3.3E-03 0.682 0.500
COL5A2 P05997 collagen type V alpha 2 chain 1.00 0.568 0.731
MYH11 P35749 myosin heavy chain 11 0.77 0.528 0.731
MYLK Q15746 myosin light chain kinase Kinase 9.2E-12 0.510 0.846
SMAD3 P84022 SMAD family member 3 Transcription factor 0.80 0.415 0.923
SLC2A10 O95528 solute carrier family 2 member 10 Transporter 1.6E-08 0.550 0.615