Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
STAT1 P42224 signal transducer and activator of transcription 1 Nucleic acid binding 1.00 0.399 0.885
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808
EFL1 Q7Z2Z2 elongation factor like GTPase 1 Enzyme 5.1E-08 0.638 0.577
MYH9 P35579 myosin heavy chain 9 1.00 0.505 0.808
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
CHRNE Q04844 cholinergic receptor nicotinic epsilon subunit Ion channel 4.7E-09 0.636 0.577
STAG2 Q8N3U4 stromal antigen 2 Nucleic acid binding 1.00 0.568 0.731
SH2D1A O60880 SH2 domain containing 1A 0.39 0.525 0.731
MPL P40238 MPL proto-oncogene, thrombopoietin receptor Receptor 4.1E-09 0.510 0.692
GATA1 P15976 GATA binding protein 1 0.95 0.483 0.808
ADAMTS13 Q76LX8 ADAM metallopeptidase with thrombospondin type 1 motif 13 Enzyme 5.1E-15 0.496 0.769
DGKE P52429 diacylglycerol kinase epsilon Enzyme 5.5E-06 0.674 0.538
LIG4 P49917 DNA ligase 4 4.2E-06 0.478 0.846
TRIM25 Q14258 tripartite motif containing 25 4.1E-03 0.633 0.462
WAS P42768 WASP actin nucleation promoting factor Cellular structure 1.00 0.529 0.808
RUNX1 Q01196 RUNX family transcription factor 1 Transcription factor 0.65 0.425 0.808
CLCN7 P51798 chloride voltage-gated channel 7 Ion channel 0.27 0.590 0.731
GP1BA P07359 glycoprotein Ib platelet subunit alpha Receptor 3.2E-03 0.565 0.692
ELOVL4 Q9GZR5 ELOVL fatty acid elongase 4 Enzyme 0.83 0.601 0.577
ETV6 P41212 ETS variant transcription factor 6 Transcription factor 0.97 0.477 0.731
GP1BB P13224 glycoprotein Ib platelet subunit beta 0.51 0.524 0.769
PIK3CD O00329 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta Kinase 1.00 0.319 0.885