Disease: Dysmorphic features
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ATR Q13535 ATR serine/threonine kinase Kinase 3.5E-09 0.456 0.923
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CBL P22681 Cbl proto-oncogene Enzyme 6.1E-04 0.527 0.769
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
CEP63 Q96MT8 centrosomal protein 63 Cellular structure 6.2E-25 0.666 0.500
GH1 P01241 growth hormone 1 Signaling 3.0E-02 0.373 0.923
GRIN1 Q05586 glutamate ionotropic receptor NMDA type subunit 1 Ion channel 0.98 0.561 0.692
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
IGF1 P05019 insulin like growth factor 1 0.27 0.318 0.885
IGFBP3 P17936 insulin like growth factor binding protein 3 Enzyme modulator 0.91 0.439 0.808
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
PPP1CB P62140 protein phosphatase 1 catalytic subunit beta Enzyme 1.00 0.601 0.577
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
SHOC2 Q9UQ13 SHOC2 leucine rich repeat scaffold protein 1.00 0.593 0.769
SHOX O15266 short stature homeobox 0.67 0.561 0.654
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
SPRED1 Q7Z699 sprouty related EVH1 domain containing 1 Receptor 0.97 0.644 0.577
XYLT2 Q9H1B5 xylosyltransferase 2 0.93 0.566 0.808