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
PTCH1 Q13635 patched 1 1.00 0.398 0.885 116 144
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 107 343
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846 93 79
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769 81 25
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769 79 50
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808 76 33
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769 73 10
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654 73 2
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846 70 13
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731 69 38
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923 66 35
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808 63 59
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846 62 116
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 61 61
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885 60 27
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577 59 77
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731 58 15
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769 57 70
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769 54 33
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615 51 6
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346 50 425