Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CCND2 P30279 cyclin D2 Enzyme modulator 0.99 0.477 0.808
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
CHUK O15111 component of inhibitor of nuclear factor kappa B kinase complex Kinase 0.99 0.556 0.731
TP63 Q9H3D4 tumor protein p63 Transcription factor 1.00 0.362 0.769
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
CUL3 Q13618 cullin 3 1.00 0.592 0.654
FGD1 P98174 FYVE, RhoGEF and PH domain containing 1 Enzyme modulator 1.00 0.573 0.731
RARB P10826 retinoic acid receptor beta Nuclear receptor 1.00 0.478 0.846
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
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
HNRNPK P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 1.00 0.539 0.846
JAK1 P23458 Janus kinase 1 Kinase 1.00 0.474 0.769
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
FLT4 P35916 fms related receptor tyrosine kinase 4 Kinase 1.00 0.457 0.808
ITPR1 Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 1.00 0.534 0.846
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
SMARCA4 P51532 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 Epigenetic regulator 1.00 0.450 0.885