Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ACTG1 P63261 actin gamma 1 Cellular structure 4.8E-03 0.477 0.846
ACTG2 P63267 actin gamma 2, smooth muscle Cellular structure 7.1E-02 0.505 0.808
ANOS1 P23352 anosmin 1 1.00 0.537 0.769
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
CECR cat eye syndrome chromosome region 0.599 0.731
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
CTCF P49711 CCCTC-binding factor Transcription factor 1.00 0.504 0.769
DIPK1A Q5T7M9 divergent protein kinase domain 1A 0.58 0.743 0.423
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FLT4 P35916 fms related receptor tyrosine kinase 4 Kinase 1.00 0.457 0.808
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GJA8 P48165 gap junction protein alpha 8 Cell-cell junction 2.2E-03 0.587 0.577
GRHL3 Q8TE85 grainyhead like transcription factor 3 Transcription factor 0.99 0.572 0.692
GSK3B P49841 glycogen synthase kinase 3 beta Kinase 0.96 0.430 0.846
LRP5 O75197 LDL receptor related protein 5 0.51 0.485 0.846
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692