Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 137 1044
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769 71 47
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808 62 28
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769 54 237
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808 39 3
KCNMA1 Q12791 potassium calcium-activated channel subfamily M alpha 1 Ion channel 1.00 0.518 0.846 38 5
KCNMA1-AS1 KCNMA1 antisense RNA 1 0.705 0.654 37 2
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731 30 148
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846 29 51
FREM2 Q5SZK8 FRAS1 related extracellular matrix 2 3.6E-11 0.566 0.577 23 12
PLOD1 Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 1.5E-15 0.579 0.731 20 14
KMT2E Q8IZD2 lysine methyltransferase 2E 1.00 0.682 0.423 18 3
AEBP1 Q8IUX7 AE binding protein 1 7.3E-11 0.631 0.654 13 5
ACTL6A O96019 actin like 6A Cellular structure 1.00 0.678 0.346 13 1
FRAS1 Q86XX4 Fraser extracellular matrix complex subunit 1 3.1E-45 0.560 0.577 10 16
RIN2 Q8WYP3 Ras and Rab interactor 2 Enzyme modulator 8.1E-04 0.623 0.692 6 3
LTBP4 Q8N2S1 latent transforming growth factor beta binding protein 4 Calcium-binding protein 0.50 0.604 0.654 4 10