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
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731
TRIP11 Q15643 thyroid hormone receptor interactor 11 1.7E-12 0.595 0.654
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
ANTXR2 P58335 ANTXR cell adhesion molecule 2 Receptor 8.7E-02 0.568 0.808
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808