Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
TBCK Q8TEA7 TBC1 domain containing kinase Kinase 2.1E-15 0.650 0.654
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
ZNF292 O60281 zinc finger protein 292 Enzyme 1.00 0.695 0.423
KAT6A Q92794 lysine acetyltransferase 6A Enzyme 1.00 0.560 0.769
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
KIF11 P52732 kinesin family member 11 Cellular structure 1.00 0.560 0.769