Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
CUL3 Q13618 cullin 3 1.00 0.592 0.654
SF3B4 Q15427 splicing factor 3b subunit 4 0.99 0.576 0.615
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
TMEM216 Q9P0N5 transmembrane protein 216 1.9E-03 0.544 0.615
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ACTG2 P63267 actin gamma 2, smooth muscle Cellular structure 7.1E-02 0.505 0.808
TUBA1A Q71U36 tubulin alpha 1a Cellular structure 0.97 0.597 0.769
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
KCNH2 Q12809 potassium voltage-gated channel subfamily H member 2 Ion channel 1.00 0.522 0.731
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808
DVL1 O14640 dishevelled segment polarity protein 1 Signaling 3.7E-06 0.531 0.769
SOX2 P48431 SRY-box transcription factor 2 Transcription factor 0.71 0.405 0.808
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769