Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
ANTXR2 P58335 ANTXR cell adhesion molecule 2 Receptor 8.7E-02 0.568 0.808
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
TRIP11 Q15643 thyroid hormone receptor interactor 11 1.7E-12 0.595 0.654
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692