Source: ALL

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885 960 48
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885 662 37
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 535 65
WNK1 Q9H4A3 WNK lysine deficient protein kinase 1 Kinase 1.00 0.416 0.846 460 26
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808 412 38
RUNX2 Q13950 RUNX family transcription factor 2 Transcription factor 0.95 0.437 0.846 405 37
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846 400 73
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846 378 111
GATA4 P43694 GATA binding protein 4 0.49 0.458 0.846 336 72
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846 327 16
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846 315 37
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808 296 24
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808 261 125
USP9X Q93008 ubiquitin specific peptidase 9 X-linked 1.00 0.502 0.846 255 14
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808 251 53
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654 249 44
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885 236 28
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692 224 221
FIG4 Q92562 FIG4 phosphoinositide 5-phosphatase 2.3E-34 0.551 0.731 223 32
AIP O00170 aryl hydrocarbon receptor interacting protein Chaperone 0.36 0.517 0.769 216 24
SCN9A Q15858 sodium voltage-gated channel alpha subunit 9 Ion channel 4.8E-19 0.543 0.615 213 70
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731 208 27
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769 198 26
CPT2 P23786 carnitine palmitoyltransferase 2 Enzyme 4.6E-10 0.542 0.769 187 78