Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
RBFOX2 O43251 RNA binding fox-1 homolog 2 Nucleic acid binding 1.00 0.590 0.846
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
NRP2 O60462 neuropilin 2 8.1E-04 0.539 0.615
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
TRIO O75962 trio Rho guanine nucleotide exchange factor Kinase 1.00 0.556 0.731
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
SOX11 P35716 SRY-box transcription factor 11 Transcription factor 0.86 0.494 0.808
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
SOX2 P48431 SRY-box transcription factor 2 Transcription factor 0.71 0.405 0.808
GSK3B P49841 glycogen synthase kinase 3 beta Kinase 0.96 0.430 0.846
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
PLP1 P60201 proteolipid protein 1 Cellular structure 0.93 0.543 0.769