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
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
KMT2B Q9UMN6 lysine methyltransferase 2B 1.00 0.529 0.808
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
TBCK Q8TEA7 TBC1 domain containing kinase Kinase 2.1E-15 0.650 0.654
KCNQ1 P51787 potassium voltage-gated channel subfamily Q member 1 Ion channel 4.5E-08 0.485 0.769
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692
PSEN1 P49768 presenilin 1 Enzyme 0.97 0.469 0.846
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
DNAH11 Q96DT5 dynein axonemal heavy chain 11 Enzyme 2.5E-58 0.587 0.692