Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769
CAMTA1 Q9Y6Y1 calmodulin binding transcription activator 1 Transcription factor 1.00 0.599 0.615
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
DAG1 Q14118 dystroglycan 1 Receptor 0.98 0.498 0.808
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
EXT2 Q93063 exostosin glycosyltransferase 2 Enzyme 1.3E-09 0.576 0.654
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
HTT P42858 huntingtin 1.00 0.548 0.654
L1CAM P32004 L1 cell adhesion molecule 1.00 0.475 0.769
PAK1 Q13153 p21 (RAC1) activated kinase 1 Kinase 1.3E-03 0.494 0.808
PMP22 Q01453 peripheral myelin protein 22 Cellular structure 0.91 0.471 0.885
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
PRKRA O75569 protein activator of interferon induced protein kinase EIF2AK2 Kinase 0.42 0.579 0.615
PRNP F7VJQ1 P04156 prion protein 6.3E-04 0.445 0.923
SHANK3 Q9BYB0 SH3 and multiple ankyrin repeat domains 3 1.00 0.550 0.731
SOD1 P00441 superoxide dismutase 1 Enzyme 0.18 0.379 0.962
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
STAG2 Q8N3U4 stromal antigen 2 Nucleic acid binding 1.00 0.568 0.731
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
SYT14 Q8NB59 synaptotagmin 14 0.94 0.716 0.346
WWOX Q9NZC7 WW domain containing oxidoreductase Enzyme 1.2E-15 0.453 0.808