Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
PPM1D O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 2.2E-11 0.513 0.808
TUBB3 Q13509 tubulin beta 3 class III Cellular structure 2.6E-10 0.486 0.808
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
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
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
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846
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
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
CCND2 P30279 cyclin D2 Enzyme modulator 0.99 0.477 0.808
CHUK O15111 component of inhibitor of nuclear factor kappa B kinase complex Kinase 0.99 0.556 0.731
ARNTL O00327 aryl hydrocarbon receptor nuclear translocator like Transcription factor 0.99 0.510 0.885
SMAD2 Q15796 SMAD family member 2 Transcription factor 1.00 0.456 0.808
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
RARB P10826 retinoic acid receptor beta Nuclear receptor 1.00 0.478 0.846
CTCF P49711 CCCTC-binding factor Transcription factor 1.00 0.504 0.769
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846