Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
SOX2 P48431 SRY-box transcription factor 2 Transcription factor 0.71 0.405 0.808
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
GSK3B P49841 glycogen synthase kinase 3 beta Kinase 0.96 0.430 0.846
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
NHS Q6T4R5 NHS actin remodeling regulator 1.00 0.466 0.846
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
ACTG1 P63261 actin gamma 1 Cellular structure 4.8E-03 0.477 0.846
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808
TUBB3 Q13509 tubulin beta 3 class III Cellular structure 2.6E-10 0.486 0.808