Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AARS2 Q5JTZ9 alanyl-tRNA synthetase 2, mitochondrial Nucleic acid binding 5.0E-17 0.644 0.500
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
BCL11B Q9C0K0 BAF chromatin remodeling complex subunit BCL11B Transcription factor 0.99 0.568 0.731
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CHMP1A Q9HD42 charged multivesicular body protein 1A 2.9E-04 0.695 0.500
CLPB Q9H078 caseinolytic mitochondrial matrix peptidase chaperone subunit B 5.0E-04 0.631 0.654
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
ECHS1 P30084 enoyl-CoA hydratase, short chain 1 Enzyme 8.8E-04 0.601 0.654
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GLE1 Q53GS7 GLE1 RNA export mediator Transporter 2.1E-10 0.628 0.577
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
MAN2B1 O00754 mannosidase alpha class 2B member 1 4.8E-22 0.674 0.462
METTL23 Q86XA0 methyltransferase like 23 1.3E-07 0.682 0.231
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769