Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
CBL P22681 Cbl proto-oncogene Enzyme 6.1E-04 0.527 0.769
EXOSC9 Q06265 exosome component 9 Enzyme 1.8E-11 0.705 0.423
PACS1 Q6VY07 phosphofurin acidic cluster sorting protein 1 1.00 0.603 0.615