Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
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
BCL11B Q9C0K0 BAF chromatin remodeling complex subunit BCL11B Transcription factor 0.99 0.568 0.731
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
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
CLPB Q9H078 caseinolytic mitochondrial matrix peptidase chaperone subunit B 5.0E-04 0.631 0.654
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
CHMP1A Q9HD42 charged multivesicular body protein 1A 2.9E-04 0.695 0.500
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
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
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
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 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