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