Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
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
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885
USP7 Q93009 ubiquitin specific peptidase 7 Enzyme 1.00 0.538 0.808
HMBS P08397 hydroxymethylbilane synthase Enzyme 0.95 0.559 0.731
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769