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
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
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
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846
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
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
FREM2 Q5SZK8 FRAS1 related extracellular matrix 2 3.6E-11 0.566 0.577
MYRF Q9Y2G1 myelin regulatory factor 1.00 0.584 0.731
TUBA1A Q71U36 tubulin alpha 1a Cellular structure 0.97 0.597 0.769
FGF14 Q92915 fibroblast growth factor 14 Signaling 0.91 0.619 0.692