Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923 153 73
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 125 84
PTCH1 Q13635 patched 1 1.00 0.398 0.885 116 144
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692 100 7
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846 93 79
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923 85 55
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808 82 76
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769 79 50
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885 78 577
TTN-AS1 TTN antisense RNA 1 0.599 0.577 78 567
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 77 192
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769 76 18
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692 68 3
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577 65 13
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808 63 59
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808 62 28
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 61 61
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808 54 264
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769 54 237
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769 54 33
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808 52 22
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346 50 425
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769 48 393
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885 47 887