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
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846 150 336
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 125 84
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692 100 7
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769 81 25
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885 70 52
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
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808 62 28
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846 45 34
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846 34 84
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846 34 63
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731 26 25
KCTD7 Q96MP8 potassium channel tetramerization domain containing 7 Enzyme modulator 6.3E-04 0.650 0.423 24 13
NFIX Q14938 nuclear factor I X Nucleic acid binding 1.00 0.547 0.769 23 25
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846 20 17
WAC Q9BTA9 WW domain containing adaptor with coiled-coil 1.00 0.686 0.615 20 12
PIGV Q9NUD9 phosphatidylinositol glycan anchor biosynthesis class V 1.5E-08 0.636 0.615 9 6
SMCHD1 A6NHR9 structural maintenance of chromosomes flexible hinge domain containing 1 1.00 0.631 0.615 7 30
MLLT1 Q03111 MLLT1 super elongation complex subunit Nucleic acid binding 0.99 0.663 0.346 7 1