Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
TUBB3 Q13509 tubulin beta 3 class III Cellular structure 2.6E-10 0.486 0.808
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923
SOX2 P48431 SRY-box transcription factor 2 Transcription factor 0.71 0.405 0.808
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
SMAD2 Q15796 SMAD family member 2 Transcription factor 1.00 0.456 0.808
RARB P10826 retinoic acid receptor beta Nuclear receptor 1.00 0.478 0.846
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
PPM1D O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 2.2E-11 0.513 0.808
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808
NRP2 O60462 neuropilin 2 8.1E-04 0.539 0.615
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
GPER1 Q99527 G protein-coupled estrogen receptor 1 G-protein coupled receptor 0.57 0.505 0.731
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
CTCF P49711 CCCTC-binding factor Transcription factor 1.00 0.504 0.769
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846