Source: INFERRED

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
SEC24C P53992 SEC24 homolog C, COPII coat complex component Transporter 1.00 0.543 0.808 128
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808 122
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846 121
NSD2 O96028 nuclear receptor binding SET domain protein 2 Epigenetic regulator 1.00 0.507 0.769 119
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577 118
COL5A1 P20908 collagen type V alpha 1 chain 1.00 0.536 0.769 116
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808 115
DMD P11532 dystrophin 1.00 0.423 0.923 114
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846 113
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808 110
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769 110
HERC2 O95714 HECT and RLD domain containing E3 ubiquitin protein ligase 2 1.00 0.568 0.692 110
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577 106
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731 106
TSC2 P49815 TSC complex subunit 2 Enzyme modulator 1.00 0.439 0.808 105
KIF1B O60333 kinesin family member 1B Cellular structure 1.00 0.516 0.808 105
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577 105
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808 105
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769 102
NF2 P35240 neurofibromin 2 1.00 0.468 0.885 99
SMARCA4 P51532 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 Epigenetic regulator 1.00 0.450 0.885 98
KIF11 P52732 kinesin family member 11 Cellular structure 1.00 0.560 0.769 97
TSC1 Q92574 TSC complex subunit 1 1.00 0.440 0.808 97
USP8 P40818 ubiquitin specific peptidase 8 Enzyme 1.00 0.587 0.654 94