Disease: Low set ears
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
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
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 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
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
TWIST1 Q15672 twist family bHLH transcription factor 1 Transcription factor 0.34 0.397 0.846
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
FLNA P21333 filamin A 1.00 0.419 0.846
SOX9 P48436 SRY-box transcription factor 9 1.00 0.419 0.846
BMP2 P12643 bone morphogenetic protein 2 Signaling 0.99 0.432 0.846
INSR P06213 insulin receptor Kinase 3.6E-05 0.432 0.846
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
WNT5A P41221 Wnt family member 5A Signaling 0.99 0.443 0.808