Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808 301
FLNA P21333 filamin A 1.00 0.419 0.846 298
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 255
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 254
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 242
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846 206
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808 199
TRNL1 tRNA 0.534 0.731 194
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846 193
SUFU Q9UMX1 SUFU negative regulator of hedgehog signaling 1.00 0.493 0.769 189
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808 186
POLR3A O14802 RNA polymerase III subunit A Enzyme 1.3E-23 0.538 0.769 186
ERCC4 Q92889 ERCC excision repair 4, endonuclease catalytic subunit Enzyme 1.4E-12 0.468 0.846 185
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808 180
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654 179
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731 177
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615 177
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808 173
TRNS1 tRNA 0.555 0.808 170
BSCL2 Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 1.1E-09 0.545 0.692 168
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808 167
GP1BB P13224 glycoprotein Ib platelet subunit beta 0.51 0.524 0.769 158
POMT2 Q9UKY4 protein O-mannosyltransferase 2 9.4E-12 0.544 0.615 157
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962 155