Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
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
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731
WAC Q9BTA9 WW domain containing adaptor with coiled-coil 1.00 0.686 0.615
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
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
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
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CTCF P49711 CCCTC-binding factor Transcription factor 1.00 0.504 0.769
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769