Disease: Global developmental delay
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962
TGFB1 P01137 transforming growth factor beta 1 Signaling 3.7E-02 0.287 0.962
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
MAPK1 P28482 mitogen-activated protein kinase 1 Kinase 1.00 0.330 0.923
MTHFR P42898 methylenetetrahydrofolate reductase 3.2E-10 0.337 0.885
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
EGF P01133 epidermal growth factor 8.5E-17 0.357 0.923
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
EZH2 Q15910 enhancer of zeste 2 polycomb repressive complex 2 subunit Epigenetic regulator 1.00 0.376 0.885
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
LMNA P02545 lamin A/C 1.00 0.384 0.885
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885
TWIST1 Q15672 twist family bHLH transcription factor 1 Transcription factor 0.34 0.397 0.846
PTCH1 Q13635 patched 1 1.00 0.398 0.885
COMT P21964 catechol-O-methyltransferase Enzyme 1.1E-06 0.400 0.923
COX8A P10176 cytochrome c oxidase subunit 8A Enzyme 0.12 0.400 0.846