Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
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
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808
GMNN O75496 geminin DNA replication inhibitor 0.11 0.554 0.808
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
ANTXR2 P58335 ANTXR cell adhesion molecule 2 Receptor 8.7E-02 0.568 0.808
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462
TRIP11 Q15643 thyroid hormone receptor interactor 11 1.7E-12 0.595 0.654
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808
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