Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923 85 55
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 125 84
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808 82 76
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923 153 73
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885 36 77
PTCH1 Q13635 patched 1 1.00 0.398 0.885 116 144
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 61 61
TGFBR2 P37173 transforming growth factor beta receptor 2 Kinase 0.13 0.413 0.846 18 45
ELN P15502 elastin 2.1E-14 0.415 0.885 9 39
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885 45 26
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808 54 264
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846 29 51
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885 47 887
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 77 192
PAX6 P26367 paired box 6 1.00 0.450 0.769 25 102
SOX10 P56693 SRY-box transcription factor 10 0.99 0.461 0.808 19 38
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885 78 577
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808 39 371
TAZ Q16635 tafazzin Enzyme 0.73 0.477 0.808 4 24
GATA6 Q92908 GATA binding protein 6 1.00 0.478 0.808 14 10
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808 52 22
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808 62 28
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769 48 393
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769 37 17