Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
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
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
TTN-AS1 TTN antisense RNA 1 0.599 0.577
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885