Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
LETM1 O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 1.2E-06 0.545 0.692
MAPRE2 Q15555 microtubule associated protein RP/EB family member 2 Cellular structure 0.83 0.636 0.692
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
MIR200C microRNA 200c 0.486 0.846
MIR451A microRNA 451a 0.505 0.769
MSX2 P35548 msh homeobox 2 Transcription factor 0.26 0.539 0.769
NSD2 O96028 nuclear receptor binding SET domain protein 2 Epigenetic regulator 1.00 0.507 0.769
OTX2 P32243 orthodenticle homeobox 2 Transcription factor 0.92 0.514 0.808
PAK1 Q13153 p21 (RAC1) activated kinase 1 Kinase 1.3E-03 0.494 0.808
PBX1 P40424 PBX homeobox 1 Transcription factor 1.00 0.534 0.846
PIGN O95427 phosphatidylinositol glycan anchor biosynthesis class N Extracellular structure 2.3E-21 0.558 0.615
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PLEC Q15149 plectin Cellular structure 8.3E-12 0.523 0.808
POC1A Q8NBT0 POC1 centriolar protein A 3.3E-06 0.650 0.500
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
POMT2 Q9UKY4 protein O-mannosyltransferase 2 9.4E-12 0.544 0.615
PRKRA O75569 protein activator of interferon induced protein kinase EIF2AK2 Kinase 0.42 0.579 0.615
RBM10 P98175 RNA binding motif protein 10 1.00 0.599 0.615
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
RPS19 P39019 ribosomal protein S19 Nucleic acid binding 0.92 0.480 0.846
SALL1 Q9NSC2 spalt like transcription factor 1 Transcription factor 1.00 0.539 0.808
SEMA3E O15041 semaphorin 3E Signaling 8.7E-09 0.515 0.769